#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_BAM_File	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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	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
PHF14	9678	hgsc.bcm.edu	37	7	11076698	11076698	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr7:11076698C>T	ENST00000403050.3	+	10	2412	c.1960C>T	c.(1960-1962)Ctt>Ttt	p.L654F	PHF14_ENST00000445996.2_Missense_Mutation_p.L369F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	654					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ACAAGAAAAGCTTCATGTAGA	0.269																																																	0			7											33.0	31.0	31.0					7																	11076698		1772	4035	5807	11043223	SO:0001583	missense	9678			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1960C>T	7.37:g.11076698C>T	ENSP00000385795:p.Leu654Phe		11043223	A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646317	0.67358	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;T	0.72725	-0.4;-0.68	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.78761	0.4334	L	0.29908	0.895	0.80722	D	1	D;D;D;P	0.71674	0.997;0.995;0.998;0.493	D;D;D;B	0.78314	0.991;0.969;0.991;0.066	T	0.80139	-0.1507	10	0.87932	D	0	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	369;369;654;654	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	F	654;369	ENSP00000385795:L654F;ENSP00000403907:L369F	ENSP00000385795:L654F	L	+	1	0	PHF14	11043223	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.469000	0.80959	2.780000	0.95670	0.655000	0.94253	CTT		0.269	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660	
DNAH11	8701	hgsc.bcm.edu	37	7	21906230	21906230	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr7:21906230A>G	ENST00000409508.3	+	71	11670	c.11639A>G	c.(11638-11640)aAg>aGg	p.K3880R	DNAH11_ENST00000328843.6_Missense_Mutation_p.K3887R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3887					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTAATACAGAAGCTGATTCTT	0.428									Kartagener syndrome																																								0			7											79.0	79.0	79.0					7																	21906230		1853	4094	5947	21872755	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11639A>G	7.37:g.21906230A>G	ENSP00000475939:p.Lys3880Arg		21872755	Q9UJ82	Silent	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	A	12.97	2.097580	0.37048	.	.	ENSG00000105877	ENST00000328843	T	0.10382	2.88	5.81	5.81	0.92471	Dynein heavy chain (1);	0.086087	0.85682	D	0.000000	T	0.08403	0.0209	.	.	.	0.54753	D	0.999982	P	0.35628	0.513	B	0.35510	0.204	T	0.33523	-0.9865	9	0.10902	T	0.67	.	15.8235	0.78678	1.0:0.0:0.0:0.0	.	3887	Q96DT5	DYH11_HUMAN	R	3887	ENSP00000330671:K3887R	ENSP00000330671:K3887R	K	+	2	0	DNAH11	21872755	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.322000	0.65852	2.224000	0.72417	0.533000	0.62120	AAG		0.428	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
WIPF3	644150	hgsc.bcm.edu	37	7	29928974	29928974	+	Silent	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr7:29928974G>A	ENST00000409290.1	+	6	1302	c.1302G>A	c.(1300-1302)ccG>ccA	p.P434P	WIPF3_ENST00000242140.5_Silent_p.P434P|WIPF3_ENST00000409123.1_Silent_p.P434P	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	434					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						TTCCCCCTCCGGATGAATATA	0.448																																																	0			7											120.0	110.0	113.0					7																	29928974		1886	4115	6001	29895499	SO:0001819	synonymous_variant	644150			AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.1302G>A	7.37:g.29928974G>A			29895499	B8ZZV2	Silent	SNP	ENST00000409290.1	37	CCDS56472.1																																																																																				0.448	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1		
HERPUD2	64224	hgsc.bcm.edu	37	7	35674831	35674831	+	Silent	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr7:35674831T>C	ENST00000396081.1	-	6	1659	c.855A>G	c.(853-855)cgA>cgG	p.R285R	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Silent_p.R285R	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	285					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						GAATCGCAGCTCGTGAGAACG	0.413																																																	0			7											184.0	165.0	171.0					7																	35674831		2203	4300	6503	35641356	SO:0001819	synonymous_variant	64224			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.855A>G	7.37:g.35674831T>C			35641356	A4D1Y8|Q9H6F9	Silent	SNP	ENST00000396081.1	37	CCDS5446.1																																																																																				0.413	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373	
FIGNL1	63979	hgsc.bcm.edu	37	7	50514774	50514774	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr7:50514774T>C	ENST00000419119.1	-	2	1765	c.212A>G	c.(211-213)gAt>gGt	p.D71G	FIGNL1_ENST00000435566.1_Intron|FIGNL1_ENST00000356889.4_Missense_Mutation_p.D71G|FIGNL1_ENST00000433017.1_Missense_Mutation_p.D71G|FIGNL1_ENST00000395556.2_Missense_Mutation_p.D71G			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	71					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				ATTGTCAGAATCAATAATTGC	0.368																																																	0			7											87.0	83.0	84.0					7																	50514774		2203	4300	6503	50482268	SO:0001583	missense	63979			AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.212A>G	7.37:g.50514774T>C	ENSP00000410811:p.Asp71Gly		50482268	D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.939096	0.73557	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119;ENST00000436590;ENST00000422854;ENST00000440350	T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48843	-0.8999	10	0.87932	D	0	-23.2158	15.6587	0.77165	0.0:0.0:0.0:1.0	.	71	Q6PIW4	FIGL1_HUMAN	G	71	ENSP00000349356:D71G;ENSP00000378924:D71G;ENSP00000399997:D71G;ENSP00000410811:D71G;ENSP00000394070:D71G;ENSP00000403012:D71G;ENSP00000388471:D71G	ENSP00000349356:D71G	D	-	2	0	FIGNL1	50482268	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.563000	0.82314	2.164000	0.68074	0.460000	0.39030	GAT		0.368	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762	
TRRAP	8295	hgsc.bcm.edu	37	7	98493411	98493411	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr7:98493411A>G	ENST00000359863.4	+	7	684	c.475A>G	c.(475-477)Aaa>Gaa	p.K159E	TRRAP_ENST00000446306.3_Missense_Mutation_p.K159E|TRRAP_ENST00000355540.3_Missense_Mutation_p.K159E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	159					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGATTTTGTGAAACAGATTTA	0.274																																																	0			7											82.0	79.0	80.0					7																	98493411		2199	4298	6497	98331347	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.475A>G	7.37:g.98493411A>G	ENSP00000352925:p.Lys159Glu		98331347	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.091903	0.76756	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.63913	3.6;-0.07	5.63	5.63	0.86233	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61388	0.2343	M	0.68317	2.08	0.80722	D	1	B;B	0.16603	0.018;0.01	B;B	0.20767	0.031;0.014	T	0.57435	-0.7812	10	0.21540	T	0.41	.	16.1358	0.81487	1.0:0.0:0.0:0.0	.	159;159	Q9Y4A5-2;Q9Y4A5	.;TRRAP_HUMAN	E	159	ENSP00000352925:K159E;ENSP00000347733:K159E	ENSP00000347733:K159E	K	+	1	0	TRRAP	98331347	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.014000	0.93635	2.261000	0.74972	0.460000	0.39030	AAA		0.274	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
RBM28	55131	hgsc.bcm.edu	37	7	127953300	127953300	+	Silent	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr7:127953300G>A	ENST00000223073.2	-	18	2187	c.2073C>T	c.(2071-2073)ccC>ccT	p.P691P	RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Silent_p.P550P	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	691					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TGGGATGGACGGGCTTCACTT	0.483																																																	0			7											282.0	237.0	252.0					7																	127953300		2203	4300	6503	127740536	SO:0001819	synonymous_variant	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.2073C>T	7.37:g.127953300G>A			127740536	A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Silent	SNP	ENST00000223073.2	37	CCDS5801.1																																																																																				0.483	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077	
TRIM24	8805	hgsc.bcm.edu	37	7	138235871	138235871	+	Missense_Mutation	SNP	A	A	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr7:138235871A>C	ENST00000343526.4	+	8	1422	c.1207A>C	c.(1207-1209)Acc>Ccc	p.T403P	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.T403P			O15164	TIF1A_HUMAN	tripartite motif containing 24	403			T -> N (in a lung squamous cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GACCAACAACACCATCCAATT	0.418																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)												0			7											244.0	211.0	222.0					7																	138235871		2203	4300	6503	137886411	SO:0001583	missense	8805			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1207A>C	7.37:g.138235871A>C	ENSP00000340507:p.Thr403Pro		137886411	A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085788	0.76642	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.76968	-1.02;-1.06	4.9	4.9	0.64082	.	0.180145	0.49305	D	0.000141	T	0.78972	0.4368	L	0.44542	1.39	0.38470	D	0.947444	B;D	0.56521	0.158;0.976	B;P	0.56127	0.07;0.792	T	0.78209	-0.2293	10	0.27785	T	0.31	-6.3172	13.0416	0.58901	1.0:0.0:0.0:0.0	.	403;403	O15164;O15164-2	TIF1A_HUMAN;.	P	403;314;403;361	ENSP00000340507:T403P;ENSP00000390829:T403P	ENSP00000340507:T403P	T	+	1	0	TRIM24	137886411	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.630000	0.61297	1.956000	0.56807	0.482000	0.46254	ACC		0.418	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905	
DENND2A	27147	hgsc.bcm.edu	37	7	140269505	140269505	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr7:140269505G>A	ENST00000275884.6	-	6	1897	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	DENND2A_ENST00000537639.1_Missense_Mutation_p.R494W|DENND2A_ENST00000492720.1_Missense_Mutation_p.R494W|DENND2A_ENST00000496613.1_Missense_Mutation_p.R494W			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	494					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TTTCCTCTCCGGACCTCATAA	0.567																																																	0			7											133.0	134.0	134.0					7																	140269505		1952	4158	6110	139915974	SO:0001583	missense	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1480C>T	7.37:g.140269505G>A	ENSP00000275884:p.Arg494Trp		139915974	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986338	0.93044	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.13420	3.3;3.3;3.3;2.59	4.74	4.74	0.60224	.	0.081588	0.50627	D	0.000106	T	0.32645	0.0836	L	0.46157	1.445	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.973	T	0.06899	-1.0801	10	0.87932	D	0	-19.0906	17.7358	0.88392	0.0:0.0:1.0:0.0	.	494;494	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	W	494	ENSP00000275884:R494W;ENSP00000442245:R494W;ENSP00000419654:R494W;ENSP00000419464:R494W	ENSP00000275884:R494W	R	-	1	2	DENND2A	139915974	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.875000	0.69660	2.184000	0.69523	0.462000	0.41574	CGG		0.567	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689	
BRAF	673	hgsc.bcm.edu	37	7	140453171	140453171	+	Silent	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr7:140453171G>A	ENST00000288602.6	-	15	1824	c.1764C>T	c.(1762-1764)ctC>ctT	p.L588L		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	588	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TTTTTACTGTGAGGTCTTCAT	0.378		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0			7											97.0	93.0	95.0					7																	140453171		2203	4299	6502	140099640	SO:0001819	synonymous_variant	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1764C>T	7.37:g.140453171G>A			140099640	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Silent	SNP	ENST00000288602.6	37	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	G	9.936	1.216034	0.22373	.	.	ENSG00000157764	ENST00000496384	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	T	0.76550	0.4003	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74529	-0.3635	4	.	.	.	.	19.7917	0.96461	0.0:0.0:1.0:0.0	.	.	.	.	L	196	.	.	S	-	2	0	BRAF	140099640	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.157000	0.50716	2.686000	0.91538	0.650000	0.86243	TCA		0.378	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
BRAF	673	hgsc.bcm.edu	37	7	140481428	140481428	+	Silent	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr7:140481428T>C	ENST00000288602.6	-	11	1440	c.1380A>G	c.(1378-1380)ggA>ggG	p.G460G		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	460	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G460G(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	CAATTCTTTGTCCCACTGTAA	0.403		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	7											169.0	145.0	153.0					7																	140481428		2203	4300	6503	140127897	SO:0001819	synonymous_variant	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1380A>G	7.37:g.140481428T>C			140127897	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Silent	SNP	ENST00000288602.6	37	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.330893	0.24167	.	.	ENSG00000157764	ENST00000496384	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	T	0.61489	0.2351	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60835	-0.7184	4	.	.	.	.	10.2132	0.43154	0.0:0.0741:0.0:0.9259	.	.	.	.	G	68	.	.	D	-	2	0	BRAF	140127897	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.628000	0.24522	2.130000	0.65690	0.477000	0.44152	GAC		0.403	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
EPHB6	2051	hgsc.bcm.edu	37	7	142562019	142562019	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr7:142562019A>G	ENST00000392957.2	+	7	1248	c.461A>G	c.(460-462)aAg>aGg	p.K154R	EPHB6_ENST00000442129.1_Missense_Mutation_p.K154R|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	154	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CGCTGGACCAAGGTGGACACA	0.637																																																	0			7											61.0	65.0	64.0					7																	142562019		2203	4300	6503	142272141	SO:0001583	missense	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.461A>G	7.37:g.142562019A>G	ENSP00000376684:p.Lys154Arg		142272141	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	A	27.4	4.828961	0.90955	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.05258	3.47;3.47	5.6	5.6	0.85130	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.47455	D	0.000236	T	0.26521	0.0648	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00992	-1.1488	10	0.72032	D	0.01	.	14.969	0.71217	1.0:0.0:0.0:0.0	.	154	O15197	EPHB6_HUMAN	R	154	ENSP00000376684:K154R;ENSP00000410789:K154R	ENSP00000376684:K154R	K	+	2	0	EPHB6	142272141	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.334000	0.96470	2.133000	0.65898	0.533000	0.62120	AAG		0.637	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1		
GIMAP7	168537	hgsc.bcm.edu	37	7	150217240	150217240	+	Missense_Mutation	SNP	C	C	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr7:150217240C>G	ENST00000313543.4	+	2	335	c.178C>G	c.(178-180)Ctt>Gtt	p.L60V		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	60	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGAGACCTTCTTGTTGTAGA	0.532																																																	0			7											55.0	52.0	53.0					7																	150217240		2203	4300	6503	149848173	SO:0001583	missense	168537			BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.178C>G	7.37:g.150217240C>G	ENSP00000315474:p.Leu60Val		149848173		Missense_Mutation	SNP	ENST00000313543.4	37	CCDS5903.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.649620	0.00785	.	.	ENSG00000179144	ENST00000313543	T	0.61158	0.13	5.09	-0.281	0.12882	AIG1 (1);	0.535498	0.18313	N	0.145049	T	0.32941	0.0846	N	0.13198	0.31	0.09310	N	1	P	0.38129	0.619	B	0.33890	0.172	T	0.23904	-1.0175	10	0.19590	T	0.45	.	11.8577	0.52449	0.1209:0.2359:0.6432:0.0	.	60	Q8NHV1	GIMA7_HUMAN	V	60	ENSP00000315474:L60V	ENSP00000315474:L60V	L	+	1	0	GIMAP7	149848173	0.000000	0.05858	0.024000	0.17045	0.058000	0.15608	-0.555000	0.05999	0.275000	0.22094	-0.165000	0.13383	CTT		0.532	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236	
RHEB	6009	hgsc.bcm.edu	37	7	151167703	151167703	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr7:151167703T>C	ENST00000262187.5	-	7	828	c.416A>G	c.(415-417)gAa>gGa	p.E139G	RHEB_ENST00000472642.1_Missense_Mutation_p.E34G|RHEB_ENST00000496004.1_Missense_Mutation_p.E34G	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	139			E -> K (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		ATTCCAAGATTCTGCCAAAGC	0.333																																					Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)												0			7											71.0	72.0	72.0					7																	151167703		2202	4299	6501	150798636	SO:0001583	missense	6009			D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"""Ras homolog enriched in brain 2"""	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.416A>G	7.37:g.151167703T>C	ENSP00000262187:p.Glu139Gly		150798636	B3KWN6|D3DX13|Q53Y56|Q99444	Missense_Mutation	SNP	ENST00000262187.5	37	CCDS5927.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.397020	0.62177	.	.	ENSG00000106615	ENST00000262187;ENST00000472642;ENST00000496004	T;T;T	0.78364	-1.17;-1.17;-1.17	4.9	4.9	0.64082	Small GTP-binding protein domain (1);	0.051891	0.85682	D	0.000000	T	0.75539	0.3863	M	0.76002	2.32	0.80722	D	1	P	0.41784	0.762	B	0.36504	0.226	T	0.77651	-0.2508	10	0.40728	T	0.16	.	13.9983	0.64416	0.0:0.0:0.0:1.0	.	139	Q15382	RHEB_HUMAN	G	139;34;34	ENSP00000262187:E139G;ENSP00000420726:E34G;ENSP00000418161:E34G	ENSP00000262187:E139G	E	-	2	0	RHEB	150798636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.992000	0.70609	1.967000	0.57214	0.482000	0.46254	GAA		0.333	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348468.2	NM_005614	
SEL1L2	80343	hgsc.bcm.edu	37	20	13830868	13830868	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr20:13830868G>A	ENST00000284951.5	-	19	1990	c.1916C>T	c.(1915-1917)aCg>aTg	p.T639M	SEL1L2_ENST00000378072.5_Missense_Mutation_p.T526M|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	639						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GAGCAAATGCGTAGTTTCCAG	0.453																																																	0			20											104.0	99.0	101.0					20																	13830868		1961	4156	6117	13778868	SO:0001583	missense	80343			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1916C>T	20.37:g.13830868G>A	ENSP00000284951:p.Thr639Met		13778868	B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37		.	.	.	.	.	.	.	.	.	.	G	3.160	-0.172314	0.06421	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.21734	1.99;2.29	5.96	2.34	0.29019	.	0.402927	0.23714	N	0.045283	T	0.05777	0.0151	N	0.00926	-1.1	0.09310	N	0.999995	B;B	0.15473	0.013;0.001	B;B	0.04013	0.001;0.0	T	0.31420	-0.9944	10	0.33141	T	0.24	-0.0014	5.4149	0.16368	0.724:0.0:0.1472:0.1288	.	526;639	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	M	526;639	ENSP00000367312:T526M;ENSP00000284951:T639M	ENSP00000284951:T639M	T	-	2	0	SEL1L2	13778868	0.043000	0.20138	0.417000	0.26559	0.122000	0.20287	0.916000	0.28651	0.504000	0.28082	-0.247000	0.11927	ACG		0.453	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
CST9	128822	hgsc.bcm.edu	37	20	23584222	23584222	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr20:23584222G>T	ENST00000376971.3	-	2	416	c.405C>A	c.(403-405)agC>agA	p.S135R		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	135						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					AGCATCCACAGCTGTGGACCT	0.527																																																	0			20											164.0	132.0	143.0					20																	23584222		2203	4300	6503	23532222	SO:0001583	missense	128822			AF494536	CCDS33450.1	20p11.21	2012-08-14			ENSG00000173335	ENSG00000173335			13261	protein-coding gene	gene with protein product						20565543	Standard	NM_001008693		Approved	CLM, CTES7A	uc002wtl.3	Q5W186	OTTHUMG00000032076	ENST00000376971.3:c.405C>A	20.37:g.23584222G>T	ENSP00000366170:p.Ser135Arg		23532222	B2RP76|Q8TD53	Missense_Mutation	SNP	ENST00000376971.3	37	CCDS33450.1	.	.	.	.	.	.	.	.	.	.	G	7.798	0.713033	0.15306	.	.	ENSG00000173335	ENST00000376971	D	0.94232	-3.38	2.19	0.0809	0.14422	.	0.701100	0.11723	N	0.535658	T	0.81992	0.4940	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.71307	-0.4632	10	0.72032	D	0.01	.	2.9312	0.05800	0.1941:0.299:0.5069:0.0	.	135	Q5W186	CST9_HUMAN	R	135	ENSP00000366170:S135R	ENSP00000366170:S135R	S	-	3	2	CST9	23532222	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.255000	0.08769	0.028000	0.15324	0.561000	0.74099	AGC		0.527	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1	NM_001008693.1	
FAM217B	63939	hgsc.bcm.edu	37	20	58519472	58519472	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr20:58519472G>A	ENST00000358293.3	+	5	889	c.474G>A	c.(472-474)atG>atA	p.M158I	FAM217B_ENST00000360816.3_Missense_Mutation_p.M158I|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	158																	TACGAGATATGGCCCTGCTTC	0.483																																																	0			20											63.0	61.0	62.0					20																	58519472		2203	4300	6503	57952867	SO:0001583	missense	63939			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.474G>A	20.37:g.58519472G>A	ENSP00000351040:p.Met158Ile		57952867	B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261332	0.59431	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.26373	1.74;1.74	5.8	5.8	0.92144	.	0.139193	0.47852	D	0.000210	T	0.33498	0.0865	L	0.56769	1.78	0.30111	N	0.806589	P	0.52316	0.952	P	0.48815	0.591	T	0.40040	-0.9584	10	0.62326	D	0.03	-20.7205	11.3472	0.49567	0.0:0.1359:0.7231:0.141	.	158	Q9NTX9	CT177_HUMAN	I	158	ENSP00000351040:M158I;ENSP00000354056:M158I	ENSP00000351040:M158I	M	+	3	0	C20orf177	57952867	1.000000	0.71417	0.990000	0.47175	0.775000	0.43874	2.751000	0.47508	2.735000	0.93741	0.655000	0.94253	ATG		0.483	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106	
EP300	2033	hgsc.bcm.edu	37	22	41572510	41572510	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr22:41572510G>A	ENST00000263253.7	+	30	6258	c.5039G>A	c.(5038-5040)cGc>cAc	p.R1680H	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1680	Binding region for E1A adenovirus.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GTGGAGACACGCTGGCACTGT	0.577			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0			22											78.0	60.0	66.0					22																	41572510		2203	4300	6503	39902456	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5039G>A	22.37:g.41572510G>A	ENSP00000263253:p.Arg1680His		39902456	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335115	0.60853	.	.	ENSG00000100393	ENST00000263253	D	0.96522	-4.04	5.23	4.2	0.49525	Zinc finger, ZZ-type (4);	0.000000	0.41605	D	0.000856	D	0.98554	0.9517	H	0.95365	3.66	0.42002	D	0.990894	D	0.89917	1.0	D	0.67231	0.95	D	0.99856	1.1077	10	0.72032	D	0.01	-6.8579	15.4677	0.75416	0.0:0.0:0.8601:0.1399	.	1680	Q09472	EP300_HUMAN	H	1680	ENSP00000263253:R1680H	ENSP00000263253:R1680H	R	+	2	0	EP300	39902456	1.000000	0.71417	0.981000	0.43875	0.946000	0.59487	9.869000	0.99810	1.319000	0.45190	-0.188000	0.12872	CGC		0.577	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
MBIP	51562	hgsc.bcm.edu	37	14	36777342	36777342	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr14:36777342T>C	ENST00000416007.4	-	7	931	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	MBIP_ENST00000359527.7_Intron|MBIP_ENST00000318473.7_Missense_Mutation_p.I282V	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	282	Interaction with MAP3K12.|Leucine-zipper 1. {ECO:0000255}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		AATTCAAGGATTTTATCCTCA	0.289																																																	0			14											68.0	76.0	73.0					14																	36777342		2203	4290	6493	35847093	SO:0001583	missense	51562			BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.844A>G	14.37:g.36777342T>C	ENSP00000399718:p.Ile282Val		35847093	Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	CCDS9658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.93|16.93	3.257307|3.257307	0.59321|0.59321	.|.	.|.	ENSG00000151332|ENSG00000151332	ENST00000416007;ENST00000318473|ENST00000553977	T;T|.	0.52057|.	0.68;0.69|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67353|0.67353	0.2884|0.2884	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	P;P;P|.	0.46784|.	0.884;0.884;0.778|.	P;P;P|.	0.46253|.	0.509;0.509;0.472|.	T|T	0.65821|0.65821	-0.6075|-0.6075	10|5	0.72032|.	D|.	0.01|.	-17.3379|-17.3379	14.9313|14.9313	0.70916|0.70916	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	256;282;282|.	B4DE55;Q9NS73-5;Q9NS73|.	.;.;MBIP1_HUMAN|.	V|S	282|278	ENSP00000399718:I282V;ENSP00000324444:I282V|.	ENSP00000324444:I282V|.	I|N	-|-	1|2	0|0	MBIP|MBIP	35847093|35847093	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.664000|0.664000	0.39144|0.39144	5.299000|5.299000	0.65716|0.65716	1.983000|1.983000	0.57843|0.57843	0.254000|0.254000	0.18369|0.18369	ATC|AAT		0.289	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586	
MDGA2	161357	hgsc.bcm.edu	37	14	47600963	47600963	+	Silent	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr14:47600963A>G	ENST00000399232.2	-	5	1036	c.672T>C	c.(670-672)tgT>tgC	p.C224C	MDGA2_ENST00000357362.3_5'UTR|MDGA2_ENST00000439988.3_Silent_p.C293C|MDGA2_ENST00000426342.1_5'UTR	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	224	Ig-like 2.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CAGGAATATTACATACATTCC	0.333																																																	0			14											123.0	111.0	115.0					14																	47600963		1863	4097	5960	46670713	SO:0001819	synonymous_variant	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.672T>C	14.37:g.47600963A>G			46670713	F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	A	10.30	1.311970	0.23821	.	.	ENSG00000139915	ENST00000554762	.	.	.	5.34	1.75	0.24633	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0329	0.24977	0.5833:0.0:0.4167:0.0	.	.	.	.	Q	27	.	.	X	-	1	0	MDGA2	46670713	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	1.675000	0.37555	0.434000	0.26340	0.477000	0.44152	TAA		0.333	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
FRMD6	122786	hgsc.bcm.edu	37	14	52186866	52186866	+	Missense_Mutation	SNP	C	C	T	rs371612348		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr14:52186866C>T	ENST00000344768.5	+	11	1314	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V	FRMD6_ENST00000553556.1_Missense_Mutation_p.A15V|FRMD6_ENST00000554167.1_Missense_Mutation_p.A296V|FRMD6_ENST00000356218.4_Missense_Mutation_p.A365V|FRMD6_ENST00000395718.2_Missense_Mutation_p.A365V			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	373					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.A365V(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GGGAGCAGTGCGGGCAGCATG	0.607																																																	1	Substitution - Missense(1)	lung(1)	14						C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	66.0	62.0	64.0		1094,1094	5.1	0.5	14		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FRMD6	NM_001042481.1,NM_152330.3	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	365/615,365/615	52186866	1,13005	2203	4300	6503	51256616	SO:0001583	missense	122786			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1118C>T	14.37:g.52186866C>T	ENSP00000343899:p.Ala373Val		51256616	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574223	0.45902	0.0	1.16E-4	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555197;ENST00000555703;ENST00000553556	T;T;T;T	0.78003	-1.14;-1.14;-0.91;-0.72	5.98	5.1	0.69264	.	0.056465	0.64402	N	0.000001	T	0.62756	0.2454	N	0.14661	0.345	0.80722	D	1	P;B;P	0.37038	0.579;0.443;0.579	B;B;B	0.33392	0.163;0.078;0.104	T	0.65907	-0.6054	10	0.46703	T	0.11	.	15.226	0.73352	0.0:0.9327:0.0:0.0673	.	296;373;365	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	V	365;365;373;296;103;15;15	ENSP00000348550:A365V;ENSP00000379068:A365V;ENSP00000343899:A373V;ENSP00000451977:A296V	ENSP00000343899:A373V	A	+	2	0	FRMD6	51256616	0.208000	0.23494	0.510000	0.27712	0.148000	0.21650	0.918000	0.28678	1.538000	0.49270	0.591000	0.81541	GCG		0.607	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330	
MTHFD1	4522	hgsc.bcm.edu	37	14	64886575	64886575	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr14:64886575A>G	ENST00000545908.1	+	8	1056	c.827A>G	c.(826-828)gAa>gGa	p.E276G	MTHFD1_ENST00000216605.8_Missense_Mutation_p.E220G			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	220	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.|Substrate binding.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.E220G(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GGTCAGCCTGAAATGGTTAAA	0.443																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)												1	Substitution - Missense(1)	ovary(1)	14											123.0	114.0	117.0					14																	64886575		2203	4300	6503	63956328	SO:0001583	missense	4522			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.827A>G	14.37:g.64886575A>G	ENSP00000438588:p.Glu276Gly		63956328	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37		.	.	.	.	.	.	.	.	.	.	A	18.14	3.558735	0.65538	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.74	5.74	0.90152	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.43612	0.1255	L	0.31065	0.9	0.80722	D	1	B;B;B	0.18610	0.029;0.029;0.006	B;B;B	0.20184	0.017;0.028;0.01	T	0.31308	-0.9948	10	0.49607	T	0.09	-26.7219	14.6068	0.68486	1.0:0.0:0.0:0.0	.	276;220;220	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	G	276;220;276;200	ENSP00000438588:E276G;ENSP00000450560:E220G;ENSP00000216605:E276G;ENSP00000451309:E200G	ENSP00000216605:E220G	E	+	2	0	MTHFD1	63956328	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.339000	0.96797	2.192000	0.70111	0.528000	0.53228	GAA		0.443	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1		
ADCK1	57143	hgsc.bcm.edu	37	14	78285426	78285426	+	Silent	SNP	C	C	T	rs370327529		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr14:78285426C>T	ENST00000238561.5	+	2	204	c.105C>T	c.(103-105)ggC>ggT	p.G35G	Y_RNA_ENST00000362570.1_RNA|ADCK1_ENST00000341211.5_Silent_p.G35G	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	35						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ATGACTTTGGCGCTGTCAGGG	0.512																																																	0			14						C	,	0,4406		0,0,2203	140.0	123.0	129.0		105,105	-9.6	0.9	14		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADCK1	NM_001142545.1,NM_020421.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	35/456,35/524	78285426	1,13005	2203	4300	6503	77355179	SO:0001819	synonymous_variant	57143			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.105C>T	14.37:g.78285426C>T			77355179	B3KUD5|Q6PD65|Q9UIE6	Silent	SNP	ENST00000238561.5	37	CCDS9869.1																																																																																				0.512	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421	
NLGN4Y	22829	hgsc.bcm.edu	37	Y	16953118	16953118	+	3'UTR	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chrY:16953118C>T	ENST00000476359.1	+	0	2972							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						ATTTACCCCACGGACATTCCA	0.428																																																	0			Y																																								15462512	SO:0001624	3_prime_UTR_variant	22829				CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"""neuroligin 4, Y linked"""			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000476359.1:c.*2969C>T	Y.37:g.16953118C>T			15462512	F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Silent	SNP	ENST00000476359.1	37																																																																																					0.428	NLGN4Y-004	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000089064.2	NM_014893	
C3	718	hgsc.bcm.edu	37	19	6690729	6690729	+	Missense_Mutation	SNP	G	G	A	rs138900723		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr19:6690729G>A	ENST00000245907.6	-	27	3492	c.3400C>T	c.(3400-3402)Cgg>Tgg	p.R1134W		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1134					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TTGTTGTTCCGTAATCCACCC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		20290	0.001		0.0	False		,,,				2504	0.0																0			19						G	TRP/ARG	0,4406		0,0,2203	131.0	105.0	114.0		3400	0.4	0.0	19	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C3	NM_000064.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1134/1664	6690729	1,13005	2203	4300	6503	6641729	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3400C>T	19.37:g.6690729G>A	ENSP00000245907:p.Arg1134Trp		6641729	A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.26	1.883231	0.33255	0.0	1.16E-4	ENSG00000125730	ENST00000245907	T	0.38560	1.13	5.69	0.445	0.16597	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.918382	0.09060	N	0.854486	T	0.62307	0.2417	M	0.82323	2.585	0.09310	N	1	D	0.89917	1.0	D	0.64042	0.921	T	0.51036	-0.8756	10	0.66056	D	0.02	.	9.2829	0.37740	0.0791:0.0:0.2215:0.6994	.	1134	P01024	CO3_HUMAN	W	1134	ENSP00000245907:R1134W	ENSP00000245907:R1134W	R	-	1	2	C3	6641729	0.000000	0.05858	0.002000	0.10522	0.152000	0.21847	-0.416000	0.07097	0.101000	0.17610	0.491000	0.48974	CGG		0.532	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
ADAMTS10	81794	hgsc.bcm.edu	37	19	8665923	8665923	+	Silent	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr19:8665923T>C	ENST00000597188.1	-	6	969	c.699A>G	c.(697-699)cgA>cgG	p.R233R	ADAMTS10_ENST00000270328.4_Silent_p.R233R|ADAMTS10_ENST00000596709.1_5'UTR	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	233						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGCTGACCGATCGCTTCAGGC	0.647																																																	0			19											70.0	62.0	65.0					19																	8665923		2203	4300	6503	8571923	SO:0001819	synonymous_variant	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.699A>G	19.37:g.8665923T>C			8571923	M0QZE4	Silent	SNP	ENST00000597188.1	37	CCDS12206.1																																																																																				0.647	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957	
ZSWIM4	65249	hgsc.bcm.edu	37	19	13928045	13928045	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr19:13928045G>A	ENST00000254323.2	+	7	1385	c.1196G>A	c.(1195-1197)gGc>gAc	p.G399D	RN7SL619P_ENST00000581753.1_RNA|ZSWIM4_ENST00000440752.2_Missense_Mutation_p.G233D	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	399							zinc ion binding (GO:0008270)	p.G399V(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTCCAGAAGGGCTCCACCTGC	0.627																																																	1	Substitution - Missense(1)	endometrium(1)	19											79.0	76.0	77.0					19																	13928045		2203	4300	6503	13789045	SO:0001583	missense	65249			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1196G>A	19.37:g.13928045G>A	ENSP00000254323:p.Gly399Asp		13789045		Missense_Mutation	SNP	ENST00000254323.2	37	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283454	0.59867	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.49720	0.77;0.99	4.79	3.68	0.42216	.	0.479287	0.17966	N	0.156015	T	0.55737	0.1939	L	0.40543	1.245	0.46564	D	0.999101	D;B	0.71674	0.998;0.185	D;B	0.71656	0.974;0.14	T	0.48768	-0.9006	10	0.30854	T	0.27	-4.7683	12.128	0.53926	0.0:0.1747:0.8252:0.0	.	233;399	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	D	399;233	ENSP00000254323:G399D;ENSP00000405278:G233D	ENSP00000254323:G399D	G	+	2	0	ZSWIM4	13789045	1.000000	0.71417	0.886000	0.34754	0.276000	0.26787	5.408000	0.66368	2.215000	0.71742	0.400000	0.26472	GGC		0.627	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342	
SLC5A5	6528	hgsc.bcm.edu	37	19	17992829	17992829	+	Silent	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr19:17992829T>C	ENST00000222248.3	+	9	1466	c.1119T>C	c.(1117-1119)ccT>ccC	p.P373P		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	373					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCATCAAACCTCGGCTGCGGA	0.602																																					Melanoma(65;1008 1708 7910 46650)												0			19											90.0	86.0	87.0					19																	17992829		2203	4300	6503	17853829	SO:0001819	synonymous_variant	6528				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1119T>C	19.37:g.17992829T>C			17853829	O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	CCDS12368.1																																																																																				0.602	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1		
LSR	51599	hgsc.bcm.edu	37	19	35758362	35758362	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr19:35758362C>T	ENST00000361790.3	+	9	1798	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	LSR_ENST00000360798.3_Missense_Mutation_p.R479W|USF2_ENST00000595068.1_5'Flank|AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000427250.1_Missense_Mutation_p.R391W|USF2_ENST00000222305.3_5'Flank|LSR_ENST00000347609.4_Missense_Mutation_p.R489W|LSR_ENST00000354900.3_Missense_Mutation_p.R528W|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000343550.5_5'Flank|USF2_ENST00000379134.3_5'Flank|LSR_ENST00000602122.1_Missense_Mutation_p.R527W	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	547					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCACGCTCCCGGGACCCCCA	0.687																																																	0			19											16.0	22.0	20.0					19																	35758362		2189	4278	6467	40450202	SO:0001583	missense	51599			AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1639C>T	19.37:g.35758362C>T	ENSP00000354575:p.Arg547Trp		40450202	A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	C	9.893	1.204692	0.22205	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	T;T;T;T;T	0.69040	0.22;0.34;-0.04;0.09;-0.37	4.66	1.66	0.24008	.	0.590192	0.17367	N	0.176802	T	0.44540	0.1298	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B	0.25486	0.006;0.01;0.01;0.127;0.006;0.006	B;B;B;B;B;B	0.15870	0.001;0.001;0.003;0.014;0.001;0.001	T	0.35475	-0.9787	10	0.59425	D	0.04	-4.7335	5.0201	0.14356	0.0:0.556:0.1942:0.2498	.	486;489;527;479;528;547	Q9BT33;Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;.;LSR_HUMAN	W	547;528;479;489;391	ENSP00000354575:R547W;ENSP00000346976:R528W;ENSP00000354034:R479W;ENSP00000262627:R489W;ENSP00000394479:R391W	ENSP00000262627:R489W	R	+	1	2	LSR	40450202	0.000000	0.05858	0.140000	0.22221	0.127000	0.20565	0.033000	0.13754	0.886000	0.36113	0.430000	0.28490	CGG		0.687	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925	
FPR1	2357	hgsc.bcm.edu	37	19	52249899	52249899	+	Missense_Mutation	SNP	C	C	T	rs547228145		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr19:52249899C>T	ENST00000595042.1	-	3	490	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	FPR1_ENST00000304748.4_Missense_Mutation_p.A117T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	117					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)	p.A117T(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GCAATGAGGGCGATCAGGAAG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		21669	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)	19											114.0	88.0	97.0					19																	52249899		2203	4300	6503	56941711	SO:0001583	missense	2357			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.349G>A	19.37:g.52249899C>T	ENSP00000471493:p.Ala117Thr		56941711	Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	0.110	-1.140343	0.01728	.	.	ENSG00000171051	ENST00000304748	T	0.70986	-0.53	3.66	0.215	0.15253	GPCR, rhodopsin-like superfamily (1);	0.162995	0.40469	N	0.001099	T	0.35856	0.0946	N	0.05050	-0.12	0.27362	N	0.955931	B	0.11235	0.004	B	0.17722	0.019	T	0.27536	-1.0071	10	0.02654	T	1	.	2.8556	0.05571	0.4295:0.3723:0.0:0.1982	.	117	P21462	FPR1_HUMAN	T	117	ENSP00000302707:A117T	ENSP00000302707:A117T	A	-	1	0	FPR1	56941711	0.028000	0.19301	0.267000	0.24556	0.398000	0.30690	1.478000	0.35442	0.281000	0.22233	-0.152000	0.13540	GCC		0.557	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029	
ADAM18	8749	hgsc.bcm.edu	37	8	39495141	39495141	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr8:39495141C>T	ENST00000265707.5	+	9	791	c.746C>T	c.(745-747)gCt>gTt	p.A249V	ADAM18_ENST00000379866.1_Missense_Mutation_p.A225V|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	249	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AGTGGGGATGCTGATGATATA	0.383																																																	0			8											101.0	98.0	99.0					8																	39495141		2203	4299	6502	39614298	SO:0001583	missense	8749			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.746C>T	8.37:g.39495141C>T	ENSP00000265707:p.Ala249Val		39614298	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058862	0.36277	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.10573	2.86;2.86	5.3	2.49	0.30216	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.920785	0.09124	N	0.845347	T	0.15998	0.0385	M	0.64260	1.97	0.09310	N	0.999992	P;P	0.45986	0.648;0.87	P;P	0.53102	0.596;0.718	T	0.12243	-1.0555	10	0.02654	T	1	.	4.6337	0.12514	0.1731:0.6477:0.0:0.1792	.	225;249	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	V	249;225;181	ENSP00000265707:A249V;ENSP00000369195:A225V	ENSP00000265707:A249V	A	+	2	0	ADAM18	39614298	0.191000	0.23288	0.005000	0.12908	0.164000	0.22412	0.560000	0.23500	0.363000	0.24346	0.650000	0.86243	GCT		0.383	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	
HGSNAT	138050	hgsc.bcm.edu	37	8	43027510	43027510	+	Silent	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr8:43027510C>T	ENST00000458501.2	+	8	885	c.885C>T	c.(883-885)ttC>ttT	p.F295F	HGSNAT_ENST00000379644.4_Silent_p.F267F			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	295					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ATTGGTACTTCAAACATGCAA	0.398																																																	0			8											182.0	178.0	180.0					8																	43027510		1878	4115	5993	43146667	SO:0001819	synonymous_variant	138050				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.885C>T	8.37:g.43027510C>T			43146667	B4E2V0	Silent	SNP	ENST00000458501.2	37																																																																																					0.398	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038	
MOS	4342	hgsc.bcm.edu	37	8	57026021	57026021	+	Missense_Mutation	SNP	C	C	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr8:57026021C>G	ENST00000311923.1	-	1	520	c.521G>C	c.(520-522)aGt>aCt	p.S174T		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	174	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CTTTCCCAAACTTAACTGTCC	0.567																																					Esophageal Squamous(124;373 2870 4778)												0			8											63.0	59.0	60.0					8																	57026021		2203	4300	6503	57188575	SO:0001583	missense	55034				CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.521G>C	8.37:g.57026021C>G	ENSP00000310722:p.Ser174Thr		57188575	Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	C	0.304	-0.972068	0.02215	.	.	ENSG00000172680	ENST00000311923	D	0.93811	-3.29	5.82	2.48	0.30137	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.121610	0.06544	N	0.743821	D	0.87908	0.6296	N	0.17764	0.52	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.76337	-0.2996	10	0.56958	D	0.05	.	8.4483	0.32856	0.0:0.666:0.1297:0.2042	.	174	P00540	MOS_HUMAN	T	174	ENSP00000310722:S174T	ENSP00000310722:S174T	S	-	2	0	MOS	57188575	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.221000	0.09202	0.304000	0.22809	-0.810000	0.03169	AGT		0.567	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372	
OTUD6B	51633	hgsc.bcm.edu	37	8	92082610	92082610	+	Missense_Mutation	SNP	G	G	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr8:92082610G>C	ENST00000285420.4	+	1	187	c.88G>C	c.(88-90)Gtc>Ctc	p.V30L	GS1-251I9.4_ENST00000524003.1_RNA|GS1-251I9.4_ENST00000522817.1_RNA|OTUD6B_ENST00000404789.3_5'UTR	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	0							cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			GTACCTGGTCGTCATGGAGGC	0.587																																																	0			8											95.0	95.0	95.0					8																	92082610		2203	4300	6503	92151786	SO:0001583	missense	51633				CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"""OTU domain containing"""	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.88G>C	8.37:g.92082610G>C	ENSP00000285420:p.Val30Leu		92151786	A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	ENST00000285420.4	37	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	G	8.766	0.924869	0.18056	.	.	ENSG00000155100	ENST00000285420	D	0.95518	-3.73	5.65	0.931	0.19460	.	.	.	.	.	D	0.87935	0.6303	N	0.08118	0	0.20873	N	0.999835	.	.	.	.	.	.	T	0.79004	-0.1980	7	0.39692	T	0.17	0.9201	7.3886	0.26897	0.3219:0.1106:0.5675:0.0	.	.	.	.	L	30	ENSP00000285420:V30L	ENSP00000285420:V30L	V	+	1	0	OTUD6B	92151786	0.006000	0.16342	0.002000	0.10522	0.034000	0.12701	0.966000	0.29331	-0.212000	0.10109	-1.886000	0.00541	GTC		0.587	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023	
EIF3E	3646	hgsc.bcm.edu	37	8	109240603	109240603	+	Silent	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr8:109240603A>G	ENST00000220849.5	-	7	677	c.615T>C	c.(613-615)ctT>ctC	p.L205L	EIF3E_ENST00000519030.1_Silent_p.L112L|RP11-35G22.1_ENST00000520037.1_RNA|EIF3E_ENST00000519517.1_5'UTR	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GAAGAGACTGAAGTGGAGAAC	0.348																																					GBM(15;360 410 8460 34179 52246)												0			8											75.0	75.0	75.0					8																	109240603		2203	4300	6503	109309779	SO:0001819	synonymous_variant	3646			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.615T>C	8.37:g.109240603A>G			109309779		Silent	SNP	ENST00000220849.5	37	CCDS6308.1	.	.	.	.	.	.	.	.	.	.	A	8.734	0.917257	0.17982	.	.	ENSG00000104408	ENST00000522352	.	.	.	5.5	-3.03	0.05429	.	.	.	.	.	T	0.51126	0.1656	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44711	-0.9310	4	.	.	.	-11.5618	7.819	0.29276	0.2882:0.2755:0.4363:0.0	.	.	.	.	P	29	.	.	S	-	1	0	EIF3E	109309779	0.996000	0.38824	0.935000	0.37517	0.974000	0.67602	0.333000	0.19768	-0.844000	0.04184	-1.501000	0.00957	TCA		0.348	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568	
TG	7038	hgsc.bcm.edu	37	8	133925509	133925509	+	Splice_Site	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr8:133925509C>T	ENST00000220616.4	+	20	4417	c.4377C>T	c.(4375-4377)tgC>tgT	p.C1459C	TG_ENST00000377869.1_Splice_Site_p.C1459C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1459					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACTGGGATGCGGTAGGTCCA	0.567																																																	0			8											74.0	62.0	66.0					8																	133925509		2203	4300	6503	133994691	SO:0001630	splice_region_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4378+1C>T	8.37:g.133925509C>T			133994691	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1																																																																																				0.567	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	Silent
EBNA1BP2	10969	hgsc.bcm.edu	37	1	43636446	43636446	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr1:43636446G>T	ENST00000236051.2	-	4	569	c.428C>A	c.(427-429)tCt>tAt	p.S143Y	WDR65_ENST00000372492.4_5'Flank|EBNA1BP2_ENST00000472982.1_5'Flank|EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.S198Y|WDR65_ENST00000528956.1_5'Flank	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	143					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGCAGATCAGATTTGGCCAT	0.468																																																	0			1											158.0	157.0	157.0					1																	43636446		2203	4300	6503	43409033	SO:0001583	missense	10969			U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.428C>A	1.37:g.43636446G>T	ENSP00000236051:p.Ser143Tyr		43409033	Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	CCDS478.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670576	0.88348	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.57436	0.4;0.4	5.47	5.47	0.80525	.	0.108671	0.64402	D	0.000004	T	0.79155	0.4398	M	0.90870	3.155	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69142	0.962;0.962	D	0.83480	0.0064	10	0.87932	D	0	-6.2641	19.6961	0.96026	0.0:0.0:1.0:0.0	.	143;143	Q6IB29;Q99848	.;EBP2_HUMAN	Y	198;143	ENSP00000407323:S198Y;ENSP00000236051:S143Y	ENSP00000236051:S143Y	S	-	2	0	EBNA1BP2	43409033	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.271000	0.95698	2.745000	0.94114	0.650000	0.86243	TCT		0.468	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1		
EFCAB14	9813	hgsc.bcm.edu	37	1	47183671	47183671	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr1:47183671C>T	ENST00000371933.3	-	1	1065	c.89G>A	c.(88-90)cGc>cAc	p.R30H	EFCAB14_ENST00000544071.1_Missense_Mutation_p.R30H	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	30							calcium ion binding (GO:0005509)										GCGAAGCAGGCGGTGACTGCT	0.532																																																	0			1											86.0	82.0	83.0					1																	47183671		2203	4300	6503	46956258	SO:0001583	missense	100130197			AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.89G>A	1.37:g.47183671C>T	ENSP00000361001:p.Arg30His		46956258	D3DQ23|Q5SXB8	Missense_Mutation	SNP	ENST00000371933.3	37	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193975	0.78902	.	.	ENSG00000159658	ENST00000544071;ENST00000371933	T;T	0.50813	0.73;1.67	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	L	0.44542	1.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.65084	-0.6254	10	0.87932	D	0	-2.7117	19.1736	0.93590	0.0:1.0:0.0:0.0	.	30;30;30	F5H7K3;B7Z444;O75071	.;.;K0494_HUMAN	H	30	ENSP00000442465:R30H;ENSP00000361001:R30H	ENSP00000361001:R30H	R	-	2	0	KIAA0494	46956258	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.619000	0.61218	2.836000	0.97738	0.655000	0.94253	CGC		0.532	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774	
SLC16A1	6566	hgsc.bcm.edu	37	1	113464681	113464681	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr1:113464681A>G	ENST00000538576.1	-	3	1123	c.292T>C	c.(292-294)Tgt>Cgt	p.C98R	SLC16A1_ENST00000369626.3_Missense_Mutation_p.C98R|SLC16A1_ENST00000433570.4_Missense_Mutation_p.C98R	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	98					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.C98S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	ATCAAGCCACAGCCTGACAAG	0.408																																																	1	Substitution - Missense(1)	central_nervous_system(1)	1											123.0	102.0	109.0					1																	113464681		2203	4300	6503	113266204	SO:0001583	missense	6566			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.292T>C	1.37:g.113464681A>G	ENSP00000441065:p.Cys98Arg		113266204	Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	ENST00000538576.1	37	CCDS858.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.381368	0.24944	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580;ENST00000429288	T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.9	-7.71	0.01254	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.844771	0.11205	N	0.588376	T	0.63861	0.2547	L	0.57536	1.79	0.34684	D	0.725073	B;B	0.27882	0.192;0.192	B;B	0.35770	0.21;0.139	T	0.53634	-0.8411	10	0.59425	D	0.04	.	13.0852	0.59135	0.1864:0.0924:0.0:0.7212	.	98;98	Q49A45;P53985	.;MOT1_HUMAN	R	98	ENSP00000358640:C98R;ENSP00000441065:C98R;ENSP00000416167:C98R;ENSP00000445061:C98R;ENSP00000399104:C98R;ENSP00000397106:C98R	ENSP00000358640:C98R	C	-	1	0	SLC16A1	113266204	0.000000	0.05858	0.343000	0.25615	0.356000	0.29392	-1.838000	0.01687	-1.862000	0.01151	-0.468000	0.05107	TGT		0.408	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051	
TCHH	7062	hgsc.bcm.edu	37	1	152085426	152085426	+	Silent	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr1:152085426G>A	ENST00000368804.1	-	2	266	c.267C>T	c.(265-267)ctC>ctT	p.L89L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	89	S-100-like.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.L89L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCTGGCCGAGAGCATAGT	0.498																																																	1	Substitution - coding silent(1)	central_nervous_system(1)	1											86.0	85.0	85.0					1																	152085426		1914	4122	6036	150352050	SO:0001819	synonymous_variant	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.267C>T	1.37:g.152085426G>A			150352050	Q5VUI3	Silent	SNP	ENST00000368804.1	37	CCDS41396.1																																																																																				0.498	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
FCRL1	115350	hgsc.bcm.edu	37	1	157771887	157771887	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr1:157771887G>T	ENST00000368176.3	-	5	771	c.704C>A	c.(703-705)tCt>tAt	p.S235Y	FCRL1_ENST00000358292.3_Missense_Mutation_p.S235Y|FCRL1_ENST00000491942.1_Missense_Mutation_p.S235Y|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	235	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GATCGGAGGAGAGCCTCTCAG	0.607																																					GBM(54;482 1003 11223 30131 35730)												0			1											42.0	43.0	43.0					1																	157771887		2203	4300	6503	156038511	SO:0001583	missense	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.704C>A	1.37:g.157771887G>T	ENSP00000357158:p.Ser235Tyr		156038511	B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409648	0.42715	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.03124	4.04;4.04;4.04	4.96	4.96	0.65561	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.205916	0.35466	N	0.003189	T	0.17450	0.0419	M	0.92784	3.345	0.37549	D	0.91863	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.994;0.996;0.989	T	0.01367	-1.1373	9	.	.	.	.	13.9028	0.63815	0.0:0.0:1.0:0.0	.	235;235;235	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	Y	235	ENSP00000351039:S235Y;ENSP00000357158:S235Y;ENSP00000418130:S235Y	.	S	-	2	0	FCRL1	156038511	1.000000	0.71417	0.964000	0.40570	0.029000	0.11900	4.446000	0.60014	2.716000	0.92895	0.655000	0.94253	TCT		0.607	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938	
SPTA1	6708	hgsc.bcm.edu	37	1	158623119	158623119	+	Missense_Mutation	SNP	G	G	A	rs373548086		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr1:158623119G>A	ENST00000368147.4	-	22	3313	c.3133C>T	c.(3133-3135)Cgg>Tgg	p.R1045W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1045					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTCGTCGCCGCTGTGGGAGC	0.542																																																	0			1						G	TRP/ARG	1,4003		0,1,2001	107.0	109.0	109.0		3133	1.4	0.0	1		109	0,8378		0,0,4189	no	missense	SPTA1	NM_003126.2	101	0,1,6190	AA,AG,GG		0.0,0.025,0.0081	probably-damaging	1045/2420	158623119	1,12381	2002	4189	6191	156889743	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3133C>T	1.37:g.158623119G>A	ENSP00000357129:p.Arg1045Trp		156889743	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452910	0.43531	2.5E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.67865	-0.29;-0.29	5.15	1.36	0.22044	Src homology-3 domain (1);	0.648067	0.11865	N	0.521990	T	0.46718	0.1407	L	0.44542	1.39	0.09310	N	1	D	0.61080	0.989	P	0.48677	0.586	T	0.31586	-0.9938	10	0.72032	D	0.01	.	8.349	0.32290	0.0774:0.0:0.3119:0.6107	.	1045	P02549	SPTA1_HUMAN	W	1045	ENSP00000357130:R1045W;ENSP00000357129:R1045W	ENSP00000357129:R1045W	R	-	1	2	SPTA1	156889743	1.000000	0.71417	0.000000	0.03702	0.268000	0.26511	2.676000	0.46883	0.183000	0.20059	0.655000	0.94253	CGG		0.542	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
NCF2	4688	hgsc.bcm.edu	37	1	183532626	183532626	+	Missense_Mutation	SNP	T	T	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr1:183532626T>A	ENST00000367535.3	-	12	1372	c.1121A>T	c.(1120-1122)cAg>cTg	p.Q374L	NCF2_ENST00000367536.1_Missense_Mutation_p.Q374L|NCF2_ENST00000413720.1_Missense_Mutation_p.Q329L|NCF2_ENST00000418089.1_Missense_Mutation_p.Q293L|NCF2_ENST00000469280.1_5'UTR	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	374	OPR.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	GTCCCGGACCTGGCTGTAGGG	0.562																																																	0			1											112.0	111.0	112.0					1																	183532626		2203	4300	6503	181799249	SO:0001583	missense	4688			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1121A>T	1.37:g.183532626T>A	ENSP00000356505:p.Gln374Leu		181799249	B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.455009	0.43634	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000420553;ENST00000419402	T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96	5.47	4.34	0.51931	Phox/Bem1p (2);	0.431941	0.26003	N	0.026923	T	0.26919	0.0659	M	0.75447	2.3	0.26347	N	0.977273	B;P;B	0.37781	0.029;0.608;0.024	B;B;B	0.42343	0.037;0.384;0.034	T	0.11518	-1.0584	10	0.27785	T	0.31	-55.7358	8.1156	0.30942	0.0:0.1569:0.0:0.8431	.	293;329;374	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	L	374;446;329;293;374;25;113	ENSP00000356506:Q374L;ENSP00000399294:Q329L;ENSP00000407217:Q293L;ENSP00000356505:Q374L;ENSP00000397228:Q25L;ENSP00000406198:Q113L	ENSP00000356505:Q374L	Q	-	2	0	NCF2	181799249	1.000000	0.71417	0.976000	0.42696	0.876000	0.50452	1.975000	0.40569	0.923000	0.37045	0.529000	0.55759	CAG		0.562	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433	
SWT1	54823	hgsc.bcm.edu	37	1	185171787	185171787	+	Splice_Site	SNP	G	G	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr1:185171787G>T	ENST00000367500.4	+	11	1690	c.1525G>T	c.(1525-1527)Gat>Tat	p.D509Y	SWT1_ENST00000367501.3_Splice_Site_p.D509Y	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	509	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CAACCTTAGGGATGATAGAAA	0.373																																																	0			1											67.0	68.0	67.0					1																	185171787		2203	4300	6503	183438410	SO:0001630	splice_region_variant	54823			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1524-1G>T	1.37:g.185171787G>T			183438410	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815025	0.32053	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.20598	2.06;2.06	5.09	4.17	0.49024	Nucleotide binding protein, PINc (1);	0.049555	0.85682	D	0.000000	T	0.16599	0.0399	L	0.28504	0.86	0.43647	D	0.996058	B	0.30281	0.275	B	0.35607	0.206	T	0.06409	-1.0828	10	0.72032	D	0.01	.	6.8989	0.24271	0.089:0.0:0.7351:0.1759	.	509	Q5T5J6	SWT1_HUMAN	Y	509	ENSP00000356471:D509Y;ENSP00000356470:D509Y	ENSP00000356470:D509Y	D	+	1	0	SWT1	183438410	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.925000	0.40074	1.277000	0.44412	0.650000	0.86243	GAT		0.373	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673	Missense_Mutation
CACNA1S	779	hgsc.bcm.edu	37	1	201017737	201017737	+	Missense_Mutation	SNP	G	G	A	rs201257304		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr1:201017737G>A	ENST00000362061.3	-	36	4640	c.4414C>T	c.(4414-4416)Cgc>Tgc	p.R1472C	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1453C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1472				R -> G (in Ref. 2; AAB37235). {ECO:0000305}.	axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGTGCCGTGCGGACCAGGGCA	0.582																																																	0			1						G	CYS/ARG	0,4406		0,0,2203	132.0	104.0	113.0		4414	5.2	1.0	1		113	3,8597		0,3,4297	no	missense	CACNA1S	NM_000069.2	180	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	1472/1874	201017737	3,13003	2203	4300	6503	199284360	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4414C>T	1.37:g.201017737G>A	ENSP00000355192:p.Arg1472Cys		199284360	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.140970	0.77775	0.0	3.49E-4	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97352	-4.35;-4.22	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.98689	0.9560	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99204	1.0874	10	0.87932	D	0	.	12.2213	0.54435	0.0:0.0:0.7137:0.2863	.	1472	Q13698	CAC1S_HUMAN	C	1472;1453	ENSP00000355192:R1472C;ENSP00000356307:R1453C	ENSP00000355192:R1472C	R	-	1	0	CACNA1S	199284360	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.243000	0.51392	2.549000	0.85964	0.557000	0.71058	CGC		0.582	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
VASH2	79805	hgsc.bcm.edu	37	1	213125037	213125037	+	Silent	SNP	C	C	A	rs572856204		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr1:213125037C>A	ENST00000517399.1	+	1	153	c.153C>A	c.(151-153)gtC>gtA	p.V51V	VASH2_ENST00000366964.3_5'UTR|VASH2_ENST00000271776.4_Intron|VASH2_ENST00000366966.2_5'UTR|VASH2_ENST00000366965.2_Silent_p.V51V|VASH2_ENST00000366968.4_5'UTR|VASH2_ENST00000366967.2_Intron			Q86V25	VASH2_HUMAN	vasohibin 2	51					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TGTTCCACGTCAACAAGAGCG	0.672																																																	0			1											44.0	39.0	40.0					1																	213125037		2200	4297	6497	211191660	SO:0001819	synonymous_variant	79805			AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.153C>A	1.37:g.213125037C>A			211191660	B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Silent	SNP	ENST00000517399.1	37	CCDS1511.1																																																																																				0.672	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381686.1	NM_024749	
ZNF678	339500	hgsc.bcm.edu	37	1	227842536	227842536	+	Silent	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr1:227842536A>G	ENST00000343776.5	+	4	930	c.585A>G	c.(583-585)caA>caG	p.Q195Q	ZNF678_ENST00000397097.3_Silent_p.Q250Q|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GGTGGTCACAACTAACTAGCC	0.363																																																	0			1											90.0	105.0	100.0					1																	227842536		2203	4298	6501	225909159	SO:0001819	synonymous_variant	339500			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.585A>G	1.37:g.227842536A>G			225909159	Q8IVQ9	Silent	SNP	ENST00000343776.5	37																																																																																					0.363	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549	
OBSCN	84033	hgsc.bcm.edu	37	1	228525710	228525710	+	Silent	SNP	G	G	A	rs375507173		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr1:228525710G>A	ENST00000422127.1	+	67	16910	c.16866G>A	c.(16864-16866)acG>acA	p.T5622T	OBSCN_ENST00000366707.4_Silent_p.T3256T|OBSCN_ENST00000570156.2_Silent_p.T6579T|OBSCN_ENST00000284548.11_Silent_p.T5622T|OBSCN_ENST00000366709.4_Silent_p.T2741T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5622	SH3.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATGCCATCACGCTGCGGGAAG	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17724	0.0		0.0	False		,,,				2504	0.0																0			1						G	,	3,4393		0,3,2195	43.0	43.0	43.0		16866,16866	-8.7	0.0	1		43	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,3,6489	AA,AG,GG		0.0,0.0682,0.0231	,	5622/7969,5622/6621	228525710	3,12981	2198	4294	6492	226592333	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.16866G>A	1.37:g.228525710G>A			226592333	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	6.226	0.409755	0.11812	6.82E-4	0.0	ENSG00000154358	ENST00000441106	.	.	.	4.35	-8.7	0.00851	.	.	.	.	.	T	0.48607	0.1509	.	.	.	0.37238	D	0.905976	.	.	.	.	.	.	T	0.60177	-0.7314	4	.	.	.	.	9.6739	0.40028	0.095:0.2036:0.5607:0.1407	.	.	.	.	T	238	.	.	A	+	1	0	OBSCN	226592333	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-1.443000	0.02405	-3.412000	0.00168	-1.579000	0.00862	GCT		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
TRIM58	25893	hgsc.bcm.edu	37	1	248031152	248031152	+	Silent	SNP	G	G	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr1:248031152G>C	ENST00000366481.3	+	4	801	c.753G>C	c.(751-753)gtG>gtC	p.V251V	OR2W3_ENST00000537741.1_5'Flank	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	251						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCAGGGTGTGAGAGGAGTCC	0.468																																																	0			1											129.0	122.0	125.0					1																	248031152		2203	4300	6503	246097775	SO:0001819	synonymous_variant	25893			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.753G>C	1.37:g.248031152G>C			246097775	Q6B0H9	Silent	SNP	ENST00000366481.3	37	CCDS1636.1																																																																																				0.468	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431	
OR2M4	26245	hgsc.bcm.edu	37	1	248402566	248402566	+	Silent	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr1:248402566T>C	ENST00000306687.1	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	112					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C112*(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAGCTGAATGTTTCTTGTTGG	0.453																																																	1	Substitution - Nonsense(1)	breast(1)	1											155.0	125.0	135.0					1																	248402566		2203	4300	6503	246469189	SO:0001819	synonymous_variant	26245			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.336T>C	1.37:g.248402566T>C			246469189	Q15611|Q8NG82	Silent	SNP	ENST00000306687.1	37	CCDS31108.1																																																																																				0.453	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504	
MUC2	4583	hgsc.bcm.edu	37	11	1083833	1083833	+	Missense_Mutation	SNP	G	G	A	rs199542148	byFrequency	TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr11:1083833G>A	ENST00000441003.2	+	18	2392	c.2365G>A	c.(2365-2367)Gcc>Acc	p.A789T	MUC2_ENST00000359061.5_Missense_Mutation_p.A789T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	789					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GACGCTGGCCGCCGGCTATGT	0.682													G|||	4	0.000798722	0.003	0.0	5008	,	,		13012	0.0		0.0	False		,,,				2504	0.0																0			11						G	THR/ALA	23,4175		0,23,2076	12.0	15.0	14.0		2365	2.2	0.0	11		14	0,8396		0,0,4198	yes	missense	MUC2	NM_002457.2	58	0,23,6274	AA,AG,GG		0.0,0.5479,0.1826	benign	789/2813	1083833	23,12571	2099	4198	6297	1073833	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2365G>A	11.37:g.1083833G>A	ENSP00000415183:p.Ala789Thr		1073833	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	G	2.660	-0.280043	0.05642	0.005479	0.0	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.17213	2.29;2.29	4.27	2.19	0.27852	.	0.599154	0.14709	U	0.303070	T	0.07413	0.0187	L	0.42581	1.335	0.09310	N	1	B	0.21905	0.062	B	0.19666	0.026	T	0.35226	-0.9797	10	0.08599	T	0.76	.	3.6344	0.08143	0.244:0.2095:0.5465:0.0	.	789	E7EUV1	.	T	789	ENSP00000415183:A789T;ENSP00000351956:A789T	ENSP00000351956:A789T	A	+	1	0	MUC2	1073833	0.000000	0.05858	0.007000	0.13788	0.018000	0.09664	0.415000	0.21181	1.005000	0.39183	0.455000	0.32223	GCC		0.682	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
MUC5B	727897	hgsc.bcm.edu	37	11	1263851	1263851	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr11:1263851C>T	ENST00000529681.1	+	31	5799	c.5741C>T	c.(5740-5742)gCc>gTc	p.A1914V	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.A1917V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1914	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACAACAGCCACTACGACT	0.652																																																	0			11											111.0	137.0	128.0					11																	1263851		2158	4240	6398	1220427	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5741C>T	11.37:g.1263851C>T	ENSP00000436812:p.Ala1914Val		1220427	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	7.540	0.660573	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17370	2.28;2.45	1.4	-2.17	0.07059	.	.	.	.	.	T	0.10809	0.0264	L	0.43923	1.385	0.09310	N	1	B;B	0.28324	0.207;0.207	B;B	0.16722	0.011;0.016	T	0.33292	-0.9874	9	0.87932	D	0	.	1.829	0.03126	0.3144:0.4317:0.0:0.2538	.	2607;1917	A7Y9J9;E9PBJ0	.;.	V	1914;1917;1915;1984	ENSP00000436812:A1914V;ENSP00000415793:A1917V	ENSP00000343037:A1915V	A	+	2	0	MUC5B	1220427	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	-0.611000	0.05622	-0.100000	0.12241	0.134000	0.15878	GCC		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
UBQLN3	50613	hgsc.bcm.edu	37	11	5530440	5530440	+	Missense_Mutation	SNP	G	G	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr11:5530440G>C	ENST00000311659.4	-	2	496	c.349C>G	c.(349-351)Ctc>Gtc	p.L117V	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	117										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTGAGGGAGTGATCCAGGA	0.607																																					Ovarian(72;684 1260 12332 41642 52180)												0			11											72.0	66.0	68.0					11																	5530440		2201	4297	6498	5487016	SO:0001583	missense	50613			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.349C>G	11.37:g.5530440G>C	ENSP00000347997:p.Leu117Val		5487016	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	1.961	-0.438879	0.04636	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.50001	1.37;0.76	5.06	0.892	0.19230	.	0.522959	0.16106	N	0.229308	T	0.37320	0.0999	M	0.68317	2.08	0.09310	N	0.999997	B	0.18968	0.032	B	0.17098	0.017	T	0.27262	-1.0079	10	0.16896	T	0.51	.	3.9777	0.09481	0.2811:0.0:0.5571:0.1618	.	117	Q9H347	UBQL3_HUMAN	V	117	ENSP00000347997:L117V;ENSP00000412561:L117V	ENSP00000347997:L117V	L	-	1	0	UBQLN3	5487016	0.310000	0.24527	0.005000	0.12908	0.859000	0.49053	0.906000	0.28517	0.072000	0.16694	0.585000	0.79938	CTC		0.607	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481	
CTR9	9646	hgsc.bcm.edu	37	11	10789928	10789928	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr11:10789928C>T	ENST00000361367.2	+	16	2425	c.1999C>T	c.(1999-2001)Cgt>Tgt	p.R667C		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	667					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCGTGAAGCTCGTGATGTATT	0.388																																																	0			11											138.0	132.0	134.0					11																	10789928		2201	4294	6495	10746504	SO:0001583	missense	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1999C>T	11.37:g.10789928C>T	ENSP00000355013:p.Arg667Cys		10746504	D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184882	0.94885	.	.	ENSG00000198730	ENST00000361367	T	0.74209	-0.82	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.86381	0.5919	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	P	0.61722	0.893	D	0.86205	0.1621	10	0.54805	T	0.06	-13.0065	20.3334	0.98727	0.0:1.0:0.0:0.0	.	667	Q6PD62	CTR9_HUMAN	C	667	ENSP00000355013:R667C	ENSP00000355013:R667C	R	+	1	0	CTR9	10746504	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.760000	0.85248	2.818000	0.97014	0.591000	0.81541	CGT		0.388	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633	
LRRC4C	57689	hgsc.bcm.edu	37	11	40136960	40136960	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr11:40136960G>A	ENST00000278198.2	-	2	2846	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	LRRC4C_ENST00000528697.1_Missense_Mutation_p.R295W|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R295W|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R295W			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	295					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAATGTATCCGCTCTAGATGA	0.468																																																	0			11											194.0	156.0	169.0					11																	40136960		2203	4300	6503	40093536	SO:0001583	missense	57689			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.883C>T	11.37:g.40136960G>A	ENSP00000278198:p.Arg295Trp		40093536	A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371392	0.42003	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.75	-0.466	0.12153	.	0.000000	0.85682	D	0.000000	T	0.68384	0.2995	M	0.70595	2.14	0.58432	D	0.999997	D	0.89917	1.0	D	0.70716	0.97	T	0.73783	-0.3874	10	0.72032	D	0.01	.	16.3231	0.82958	0.0:0.0:0.2003:0.7997	.	295	Q9HCJ2	LRC4C_HUMAN	W	295	ENSP00000278198:R295W;ENSP00000436976:R295W;ENSP00000437132:R295W;ENSP00000434761:R295W	ENSP00000278198:R295W	R	-	1	2	LRRC4C	40093536	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	2.559000	0.45888	0.023000	0.15187	0.650000	0.86243	CGG		0.468	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929	
CHRM1	1128	hgsc.bcm.edu	37	11	62678246	62678246	+	Silent	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr11:62678246G>A	ENST00000306960.3	-	2	868	c.327C>T	c.(325-327)agC>agT	p.S109S	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	109					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	CGGAGGCATTGCTGGCCACAT	0.617																																																	0			11											69.0	61.0	63.0					11																	62678246		2201	4298	6499	62434822	SO:0001819	synonymous_variant	1128			Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1950	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 1"""	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.327C>T	11.37:g.62678246G>A			62434822	Q96RH1	Silent	SNP	ENST00000306960.3	37	CCDS8040.1																																																																																				0.617	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1	NM_000738	
UVRAG	7405	hgsc.bcm.edu	37	11	75590981	75590981	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr11:75590981T>C	ENST00000356136.3	+	4	570	c.329T>C	c.(328-330)gTg>gCg	p.V110A	UVRAG_ENST00000528420.1_Missense_Mutation_p.V9A	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	110	C2.				DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GATACATCTGTGTCTTGTTTC	0.433																																																	0			11											277.0	262.0	267.0					11																	75590981		2200	4293	6493	75268629	SO:0001583	missense	7405			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.329T>C	11.37:g.75590981T>C	ENSP00000348455:p.Val110Ala		75268629	B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.616580	0.46736	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000528264	T	0.45668	0.89	5.65	5.65	0.86999	C2 calcium-dependent membrane targeting (1);	0.054145	0.64402	D	0.000001	T	0.35913	0.0948	L	0.41236	1.265	0.80722	D	1	B	0.26935	0.164	B	0.26517	0.07	T	0.11251	-1.0595	10	0.28530	T	0.3	-12.7328	14.7229	0.69320	0.0:0.0:0.0:1.0	.	110	Q9P2Y5	UVRAG_HUMAN	A	110;9;9	ENSP00000348455:V110A	ENSP00000348455:V110A	V	+	2	0	UVRAG	75268629	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.890000	0.69774	2.163000	0.67991	0.533000	0.62120	GTG		0.433	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369	
ATM	472	hgsc.bcm.edu	37	11	108180939	108180939	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr11:108180939C>A	ENST00000452508.2	+	40	6004	c.5815C>A	c.(5815-5817)Cta>Ata	p.L1939I	ATM_ENST00000278616.4_Missense_Mutation_p.L1939I|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1939					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L1939V(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTTAAATTATCTAGAAGTTGC	0.328			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	1	Substitution - Missense(1)	kidney(1)	11											73.0	76.0	75.0					11																	108180939		2201	4297	6498	107686149	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5815C>A	11.37:g.108180939C>A	ENSP00000388058:p.Leu1939Ile		107686149	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128731	0.77549	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.78595	-1.19;-1.19	5.7	3.51	0.40186	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86581	0.5967	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.931	D	0.86779	0.1978	10	0.42905	T	0.14	.	13.5657	0.61817	0.0:0.8526:0.0:0.1474	.	591;1939	E9PFP9;Q13315	.;ATM_HUMAN	I	1939	ENSP00000278616:L1939I;ENSP00000388058:L1939I	ENSP00000278616:L1939I	L	+	1	2	ATM	107686149	0.976000	0.34144	0.993000	0.49108	0.812000	0.45895	2.228000	0.42981	1.419000	0.47118	-0.252000	0.11476	CTA		0.328	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	hgsc.bcm.edu	37	11	108236072	108236072	+	Missense_Mutation	SNP	A	A	G	rs144636562		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr11:108236072A>G	ENST00000452508.2	+	64	9197	c.9008A>G	c.(9007-9009)aAc>aGc	p.N3003S	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000278616.4_Missense_Mutation_p.N3003S|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	3003				N -> D (in Ref. 1; AAC50289, 2; AAB38309/ AAB38310 and 9; AAA86520). {ECO:0000305}.	brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CAGAGTTTCAACAAAGTAGCT	0.393			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0			11						A	SER/ASN	0,4402		0,0,2201	118.0	116.0	117.0		9008	5.2	1.0	11	dbSNP_134	117	1,8595	1.2+/-3.3	0,1,4297	no	missense	ATM	NM_000051.3	46	0,1,6498	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	3003/3057	108236072	1,12997	2201	4298	6499	107741282	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.9008A>G	11.37:g.108236072A>G	ENSP00000388058:p.Asn3003Ser		107741282	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.452755	0.84209	0.0	1.16E-4	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.02103	4.45;4.45	5.22	5.22	0.72569	Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.048039	0.85682	D	0.000000	T	0.12902	0.0313	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.00298	-1.1837	10	0.56958	D	0.05	.	15.3219	0.74129	1.0:0.0:0.0:0.0	.	3003	Q13315	ATM_HUMAN	S	3003	ENSP00000278616:N3003S;ENSP00000388058:N3003S	ENSP00000278616:N3003S	N	+	2	0	ATM	107741282	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	8.903000	0.92573	2.202000	0.70862	0.529000	0.55759	AAC		0.393	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ZC3H12C	85463	hgsc.bcm.edu	37	11	110035171	110035171	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr11:110035171C>T	ENST00000278590.3	+	6	1412	c.1361C>T	c.(1360-1362)aCg>aTg	p.T454M	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.T455M|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.T423M	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	454							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TCTAGAAATACGGCAGCCAAA	0.498																																																	0			11											59.0	61.0	60.0					11																	110035171		1928	4140	6068	109540381	SO:0001583	missense	85463				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1361C>T	11.37:g.110035171C>T	ENSP00000278590:p.Thr454Met		109540381	B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587661	0.46110	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.31769	1.48;1.48;1.49	5.85	5.85	0.93711	.	0.179430	0.50627	D	0.000117	T	0.28665	0.0710	N	0.08118	0	0.37360	D	0.911184	D;D;D	0.67145	0.99;0.996;0.996	P;P;P	0.53689	0.572;0.732;0.732	T	0.32455	-0.9906	10	0.62326	D	0.03	-19.3538	15.635	0.76944	0.0:0.8634:0.1366:0.0	.	455;454;454	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	M	454;455;423	ENSP00000278590:T454M;ENSP00000431821:T455M;ENSP00000413094:T423M	ENSP00000278590:T454M	T	+	2	0	ZC3H12C	109540381	0.998000	0.40836	0.975000	0.42487	0.407000	0.30961	3.224000	0.51238	2.771000	0.95319	0.561000	0.74099	ACG		0.498	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390	
OR6X1	390260	hgsc.bcm.edu	37	11	123624877	123624877	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr11:123624877G>A	ENST00000327930.2	-	1	376	c.350C>T	c.(349-351)tCt>tTt	p.S117F		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCGGTCAAAAGACATGATAGT	0.562																																																	0			11											164.0	160.0	161.0					11																	123624877		2202	4299	6501	123130087	SO:0001583	missense	390260			AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.350C>T	11.37:g.123624877G>A	ENSP00000333724:p.Ser117Phe		123130087	B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199636	0.79015	.	.	ENSG00000221931	ENST00000327930	T	0.51071	0.72	4.34	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.73814	0.3635	H	0.95504	3.68	0.44807	D	0.997816	D	0.67145	0.996	P	0.59703	0.862	T	0.82965	-0.0195	9	0.72032	D	0.01	-9.6481	14.3878	0.66958	0.0:0.0:1.0:0.0	.	117	Q8NH79	OR6X1_HUMAN	F	117	ENSP00000333724:S117F	ENSP00000333724:S117F	S	-	2	0	OR6X1	123130087	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.253000	0.72453	2.261000	0.74972	0.650000	0.86243	TCT		0.562	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188	
OR10G4	390264	hgsc.bcm.edu	37	11	123886824	123886824	+	Silent	SNP	G	G	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr11:123886824G>T	ENST00000320891.4	+	1	543	c.543G>T	c.(541-543)ccG>ccT	p.P181P		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	181			P -> S (in dbSNP:rs1893764).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P181P(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGACGCACCGCCCATCCTGA	0.542																																																	2	Substitution - coding silent(2)	large_intestine(1)|central_nervous_system(1)	11											203.0	168.0	180.0					11																	123886824		2201	4298	6499	123392034	SO:0001819	synonymous_variant	390264			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.543G>T	11.37:g.123886824G>T			123392034	Q6IEW0	Silent	SNP	ENST00000320891.4	37	CCDS31702.1																																																																																				0.542	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462	
CDON	50937	hgsc.bcm.edu	37	11	125888238	125888238	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr11:125888238C>A	ENST00000392693.3	-	5	754	c.627G>T	c.(625-627)aaG>aaT	p.K209N	CDON_ENST00000263577.7_Missense_Mutation_p.K209N	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	209					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TCACAAGGAGCTTTCGGCCAA	0.363																																																	0			11											134.0	121.0	126.0					11																	125888238		2201	4299	6500	125393448	SO:0001583	missense	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.627G>T	11.37:g.125888238C>A	ENSP00000376458:p.Lys209Asn		125393448	O14631	Missense_Mutation	SNP	ENST00000392693.3	37	CCDS58192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.55|17.55	3.417679|3.417679	0.62622|0.62622	.|.	.|.	ENSG00000064309|ENSG00000064309	ENST00000534661|ENST00000392693;ENST00000263577	.|T;T	.|0.70986	.|-0.52;-0.53	5.53|5.53	4.62|4.62	0.57501|0.57501	.|Immunoglobulin-like fold (1);	.|0.000000	.|0.53938	.|D	.|0.000045	D|D	0.82967|0.82967	0.5152|0.5152	M|M	0.83223|0.83223	2.63|2.63	0.33349|0.33349	D|D	0.570777|0.570777	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.85962|0.85962	0.1471|0.1471	5|10	.|0.24483	.|T	.|0.36	-25.6977|-25.6977	12.4435|12.4435	0.55637|0.55637	0.0:0.8598:0.0:0.1402|0.0:0.8598:0.0:0.1402	.|.	.|209;209	.|Q4KMG0;Q4KMG0-2	.|CDON_HUMAN;.	S|N	185|209	.|ENSP00000376458:K209N;ENSP00000263577:K209N	.|ENSP00000263577:K209N	A|K	-|-	1|3	0|2	CDON|CDON	125393448|125393448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	1.043000|1.043000	0.30316|0.30316	1.469000|1.469000	0.48083|0.48083	0.491000|0.491000	0.48974|0.48974	GCT|AAG		0.363	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952	
TPMT	7172	hgsc.bcm.edu	37	6	18149270	18149270	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr6:18149270T>C	ENST00000309983.4	-	2	174	c.89A>G	c.(88-90)cAa>cGa	p.Q30R		NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase	30	S-adenosyl-L-methionine binding.				methylation (GO:0032259)|nucleobase-containing compound metabolic process (GO:0006139)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	thiopurine S-methyltransferase activity (GO:0008119)			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Azathioprine(DB00993)|Bendroflumethiazide(DB00436)|Cefazolin(DB01327)|Mercaptopurine(DB01033)|Olsalazine(DB01250)|Trichlormethiazide(DB01021)	CCACTTGTCTTGCCATTCTTC	0.388																																					Colon(190;1381 2791 16728 32493)												0			6											277.0	246.0	257.0					6																	18149270		2203	4300	6503	18257249	SO:0001583	missense	7172				CCDS4543.1	6p22.3	2014-09-17			ENSG00000137364	ENSG00000137364	2.1.1.67		12014	protein-coding gene	gene with protein product		187680				8316220	Standard	NM_000367		Approved		uc003ncm.3	P51580	OTTHUMG00000014317	ENST00000309983.4:c.89A>G	6.37:g.18149270T>C	ENSP00000312304:p.Gln30Arg		18257249	O14806|O15423|O15424|O15425|O15426|O15515|O15548|O43213|Q5VUK6|Q9UBE6|Q9UBT8|Q9UE62	Missense_Mutation	SNP	ENST00000309983.4	37	CCDS4543.1	.	.	.	.	.	.	.	.	.	.	T	12.11	1.838576	0.32513	.	.	ENSG00000137364	ENST00000309983	T	0.63913	-0.07	5.75	0.367	0.16140	.	0.464195	0.25839	N	0.027962	T	0.23289	0.0563	L	0.49640	1.575	0.09310	N	0.999999	B;B	0.10296	0.0;0.003	B;B	0.12837	0.003;0.008	T	0.22765	-1.0207	10	0.11485	T	0.65	-11.9799	4.4231	0.11490	0.2106:0.2354:0.0:0.5541	.	30;30	Q9BS45;P51580	.;TPMT_HUMAN	R	30	ENSP00000312304:Q30R	ENSP00000312304:Q30R	Q	-	2	0	TPMT	18257249	0.465000	0.25815	0.957000	0.39632	0.998000	0.95712	0.577000	0.23758	0.180000	0.19960	0.528000	0.53228	CAA		0.388	TPMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039960.1		
PSORS1C2	170680	hgsc.bcm.edu	37	6	31105792	31105792	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr6:31105792G>A	ENST00000259845.4	-	2	670	c.347C>T	c.(346-348)cCt>cTt	p.P116L	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000481450.2_5'Flank|PSORS1C1_ENST00000547221.1_Intron	NM_014069.2	NP_054788.2	Q9UIG4	PS1C2_HUMAN	psoriasis susceptibility 1 candidate 2	116						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GTCCACCTCAGGGGCAGGAGG	0.642																																																	0			6											28.0	30.0	29.0					6																	31105792		1503	2689	4192	31213771	SO:0001583	missense	170680			AB031480	CCDS4694.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204538	ENSG00000204538			17199	protein-coding gene	gene with protein product		613526	"""chromosome 6 open reading frame 17"""	C6orf17			Standard	NM_014069		Approved	SPR1	uc003nso.4	Q9UIG4	OTTHUMG00000031081	ENST00000259845.4:c.347C>T	6.37:g.31105792G>A	ENSP00000259845:p.Pro116Leu		31213771	Q5STD0	Missense_Mutation	SNP	ENST00000259845.4	37	CCDS4694.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075243	0.76415	.	.	ENSG00000204538	ENST00000259845	T	0.25414	1.8	4.82	4.82	0.62117	.	0.000000	0.45606	D	0.000346	T	0.22003	0.0530	L	0.34521	1.04	0.49915	D	0.999837	D	0.57257	0.979	P	0.54270	0.747	T	0.01409	-1.1362	10	0.87932	D	0	-0.7565	13.2517	0.60055	0.0:0.0:1.0:0.0	.	116	Q9UIG4	PS1C2_HUMAN	L	116	ENSP00000259845:P116L	ENSP00000259845:P116L	P	-	2	0	PSORS1C2	31213771	0.999000	0.42202	0.998000	0.56505	0.887000	0.51463	2.724000	0.47285	2.511000	0.84671	0.579000	0.79373	CCT		0.642	PSORS1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076115.3		
HSPA1L	3305	hgsc.bcm.edu	37	6	31778963	31778963	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr6:31778963T>C	ENST00000375654.4	-	2	976	c.787A>G	c.(787-789)Agg>Ggg	p.R263G	HSPA1L_ENST00000417199.3_Missense_Mutation_p.R263G	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	263					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CGCAGCCGCCTCACGGCTCGC	0.552																																																	0			6											59.0	64.0	62.0					6																	31778963		2203	4300	6503	31886942	SO:0001583	missense	3305			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.787A>G	6.37:g.31778963T>C	ENSP00000364805:p.Arg263Gly		31886942	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877175	0.51801	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653;ENST00000424494	T;T	0.01051	5.4;5.4	5.26	-0.22	0.13130	.	0.000000	0.36444	N	0.002598	T	0.02418	0.0074	M	0.67625	2.065	0.54753	D	0.999983	D	0.76494	0.999	D	0.87578	0.998	T	0.32161	-0.9917	10	0.87932	D	0	-10.4254	13.6097	0.62071	0.0:0.0:0.5926:0.4074	.	263	P34931	HS71L_HUMAN	G	263;263;208;153	ENSP00000364805:R263G;ENSP00000387691:R263G	ENSP00000364804:R208G	R	-	1	2	HSPA1L	31886942	0.934000	0.31675	0.994000	0.49952	0.791000	0.44710	-0.027000	0.12371	-0.155000	0.11098	0.397000	0.26171	AGG		0.552	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2		
HLA-DPA1	3113	hgsc.bcm.edu	37	6	33037508	33037508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr6:33037508C>A	ENST00000419277.1	-	3	385	c.256G>T	c.(256-258)Gag>Tag	p.E86*	HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Nonsense_Mutation_p.E86*	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	86	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CCCTGAGCCTCAAAGGAAAAG	0.478																																																	0			6											90.0	96.0	94.0					6																	33037508		1511	2709	4220	33145486	SO:0001587	stop_gained	3113			X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.256G>T	6.37:g.33037508C>A	ENSP00000393566:p.Glu86*		33145486	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Nonsense_Mutation	SNP	ENST00000419277.1	37	CCDS4764.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629286	0.87560	.	.	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337	.	.	.	3.08	3.08	0.35506	.	1.174860	0.06490	U	0.734532	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.3887	0.55347	0.0:1.0:0.0:0.0	.	.	.	.	X	86	.	ENSP00000393566:E86X	E	-	1	0	HLA-DPA1	33145486	0.898000	0.30612	0.839000	0.33178	0.987000	0.75469	0.995000	0.29706	1.647000	0.50633	0.643000	0.83706	GAG		0.478	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554	
STK38	11329	hgsc.bcm.edu	37	6	36507927	36507927	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr6:36507927T>C	ENST00000229812.7	-	2	338	c.53A>G	c.(52-54)gAa>gGa	p.E18G		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTCACCCTTTCCTTTGTGTG	0.388																																					Colon(180;997 3561 16158)												0			6											274.0	258.0	264.0					6																	36507927		2203	4300	6503	36615905	SO:0001583	missense	11329				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.53A>G	6.37:g.36507927T>C	ENSP00000229812:p.Glu18Gly		36615905		Missense_Mutation	SNP	ENST00000229812.7	37	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	T	31	5.090105	0.94149	.	.	ENSG00000112079	ENST00000229812	T	0.52295	0.67	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.56804	0.2010	M	0.81341	2.54	0.80722	D	1	D	0.56287	0.975	P	0.55161	0.77	T	0.63686	-0.6581	10	0.56958	D	0.05	.	15.5485	0.76129	0.0:0.0:0.0:1.0	.	18	Q15208	STK38_HUMAN	G	18	ENSP00000229812:E18G	ENSP00000229812:E18G	E	-	2	0	STK38	36615905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.154000	0.67381	0.477000	0.44152	GAA		0.388	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271	
UBR2	23304	hgsc.bcm.edu	37	6	42647492	42647492	+	Missense_Mutation	SNP	G	G	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr6:42647492G>C	ENST00000372899.1	+	42	4898	c.4640G>C	c.(4639-4641)tGt>tCt	p.C1547S	UBR2_ENST00000372901.1_Missense_Mutation_p.C1547S|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1547					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GAACATTTATGTAGCTATCTT	0.328																																																	0			6											124.0	107.0	113.0					6																	42647492		2202	4299	6501	42755470	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4640G>C	6.37:g.42647492G>C	ENSP00000361990:p.Cys1547Ser		42755470	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813636	0.90790	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.59906	0.23;0.23	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.71508	0.3348	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.973	T	0.64575	-0.6375	10	0.30854	T	0.27	-9.0789	20.4777	0.99188	0.0:0.0:1.0:0.0	.	1547;1547	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	S	1547	ENSP00000361990:C1547S;ENSP00000361992:C1547S	ENSP00000361990:C1547S	C	+	2	0	UBR2	42755470	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.364000	0.90105	2.840000	0.97914	0.655000	0.94253	TGT		0.328	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255	
PHF3	23469	hgsc.bcm.edu	37	6	64423171	64423171	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr6:64423171G>A	ENST00000262043.3	+	16	6027	c.5687G>A	c.(5686-5688)cGc>cAc	p.R1896H	PHF3_ENST00000393387.1_Missense_Mutation_p.R1896H			Q92576	PHF3_HUMAN	PHD finger protein 3	1896					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCAGAAAGGCGCCATAGTGAC	0.493																																					GBM(135;136 1820 29512 34071 46235)												0			6											74.0	83.0	80.0					6																	64423171		2203	4300	6503	64481130	SO:0001583	missense	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5687G>A	6.37:g.64423171G>A	ENSP00000262043:p.Arg1896His		64481130	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319786	0.41096	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.39229	1.09;1.09	5.97	5.11	0.69529	.	0.000000	0.40144	N	0.001176	T	0.14399	0.0348	L	0.29908	0.895	0.47862	D	0.999539	P	0.39022	0.655	B	0.27076	0.076	T	0.03374	-1.1043	9	.	.	.	-1.9023	15.3109	0.74031	0.0669:0.0:0.9331:0.0	.	1896	Q92576	PHF3_HUMAN	H	1896	ENSP00000262043:R1896H;ENSP00000377048:R1896H	.	R	+	2	0	PHF3	64481130	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	4.810000	0.62598	1.539000	0.49286	0.655000	0.94253	CGC		0.493	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		
MYO6	4646	hgsc.bcm.edu	37	6	76566848	76566848	+	Missense_Mutation	SNP	C	C	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr6:76566848C>G	ENST00000369977.3	+	13	1397	c.1258C>G	c.(1258-1260)Cgt>Ggt	p.R420G	MYO6_ENST00000369981.3_Missense_Mutation_p.R420G|MYO6_ENST00000369985.4_Missense_Mutation_p.R420G|MYO6_ENST00000369975.1_Missense_Mutation_p.R420G	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	420	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAACAATGCTCGTGATGCCCT	0.368																																																	0			6											150.0	134.0	140.0					6																	76566848		2203	4300	6503	76623568	SO:0001583	missense	4646			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1258C>G	6.37:g.76566848C>G	ENSP00000358994:p.Arg420Gly		76623568	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439281	0.63067	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.92766	0.7700	H	0.99565	4.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95427	0.8513	10	0.87932	D	0	.	19.9764	0.97312	0.0:1.0:0.0:0.0	.	420;420	Q9UM54-2;Q9UM54-1	.;.	G	420	ENSP00000358998:R420G;ENSP00000359002:R420G;ENSP00000358994:R420G;ENSP00000358992:R420G	ENSP00000358992:R420G	R	+	1	0	MYO6	76623568	1.000000	0.71417	0.809000	0.32408	0.048000	0.14542	5.740000	0.68629	2.727000	0.93392	0.585000	0.79938	CGT		0.368	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	
EPHA7	2045	hgsc.bcm.edu	37	6	94066483	94066483	+	Silent	SNP	G	G	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr6:94066483G>T	ENST00000369303.4	-	5	1460	c.1276C>A	c.(1276-1278)Cga>Aga	p.R426R		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	426	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.R426*(1)|p.R426R(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTCTGGGATCGGCTTAAGTCA	0.418																																																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	lung(2)	6											112.0	112.0	112.0					6																	94066483		2203	4300	6503	94123204	SO:0001819	synonymous_variant	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1276C>A	6.37:g.94066483G>T			94123204	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	CCDS5031.1																																																																																				0.418	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
GRIK2	2898	hgsc.bcm.edu	37	6	102516287	102516287	+	Silent	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr6:102516287A>G	ENST00000421544.1	+	16	3118	c.2628A>G	c.(2626-2628)aaA>aaG	p.K876K	GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369134.4_Silent_p.K827K|GRIK2_ENST00000369137.3_Silent_p.K800K|GRIK2_ENST00000413795.1_3'UTR	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	876					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GTCGGTTAAAACATAAGCCAC	0.408																																																	0			6											113.0	103.0	106.0					6																	102516287		2203	4300	6503	102622980	SO:0001819	synonymous_variant	2901				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2628A>G	6.37:g.102516287A>G			102622980	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	37	CCDS5048.1																																																																																				0.408	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
TRAF3IP2	10758	hgsc.bcm.edu	37	6	111884188	111884188	+	Missense_Mutation	SNP	G	G	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr6:111884188G>C	ENST00000340026.6	-	9	2152	c.1558C>G	c.(1558-1560)Ctc>Gtc	p.L520V	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.L510V|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.L511V|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000392556.4_Missense_Mutation_p.L99V|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000368735.1_Missense_Mutation_p.L55V			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	520	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		TTTGGGAAGAGCACAGGGATG	0.348																																																	0			6											90.0	76.0	81.0					6																	111884188		2203	4300	6503	111990881	SO:0001583	missense	10758			AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1558C>G	6.37:g.111884188G>C	ENSP00000345984:p.Leu520Val		111990881	B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37		.	.	.	.	.	.	.	.	.	.	G	25.1	4.600292	0.87055	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000392556;ENST00000340026;ENST00000359831;ENST00000368735	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.43669	-0.9377	10	0.54805	T	0.06	-27.8804	20.3437	0.98782	0.0:0.0:1.0:0.0	.	510	Q7Z6Q1	.	V	520;511;99;520;510;55	ENSP00000357750:L511V;ENSP00000376339:L99V;ENSP00000345984:L520V;ENSP00000352889:L510V;ENSP00000357724:L55V	ENSP00000345984:L520V	L	-	1	0	TRAF3IP2	111990881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.735000	0.74806	2.815000	0.96918	0.561000	0.74099	CTC		0.348	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2		
FAM184A	79632	hgsc.bcm.edu	37	6	119301420	119301420	+	Silent	SNP	C	C	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr6:119301420C>A	ENST00000338891.7	-	10	2627	c.2184G>T	c.(2182-2184)cgG>cgT	p.R728R	FAM184A_ENST00000521531.1_Silent_p.R728R|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Silent_p.R608R|FAM184A_ENST00000352896.5_Silent_p.R608R	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	728						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTTGCGTAAGCCGCTGTCGTT	0.423																																																	0			6											123.0	116.0	118.0					6																	119301420		1907	4127	6034	119343119	SO:0001819	synonymous_variant	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2184G>T	6.37:g.119301420C>A			119343119	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Silent	SNP	ENST00000338891.7	37	CCDS43499.1																																																																																				0.423	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
UST	10090	hgsc.bcm.edu	37	6	149262525	149262525	+	Silent	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr6:149262525C>T	ENST00000367463.4	+	3	505	c.402C>T	c.(400-402)gtC>gtT	p.V134V		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	134					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		TTAATTTGGTCACATCAGACA	0.423																																																	0			6											182.0	169.0	173.0					6																	149262525		2203	4300	6503	149304218	SO:0001819	synonymous_variant	10090			AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.402C>T	6.37:g.149262525C>T			149304218	B2RCX6	Silent	SNP	ENST00000367463.4	37	CCDS5213.1																																																																																				0.423	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715	
QKI	9444	hgsc.bcm.edu	37	6	163987757	163987757	+	Silent	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr6:163987757G>A	ENST00000361752.3	+	7	1490	c.939G>A	c.(937-939)gcG>gcA	p.A313A	QKI_ENST00000275262.7_3'UTR|QKI_ENST00000361195.2_Silent_p.A305A|QKI_ENST00000392127.2_3'UTR|QKI_ENST00000453779.2_3'UTR	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	313					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AACTAGGTGCGGTGGCTACTA	0.398																																																	0			6											113.0	97.0	102.0					6																	163987757		2203	4300	6503	163907747	SO:0001819	synonymous_variant	9444			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.939G>A	6.37:g.163987757G>A			163907747	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Silent	SNP	ENST00000361752.3	37	CCDS5285.1	.	.	.	.	.	.	.	.	.	.	G	4.512	0.094926	0.08681	.	.	ENSG00000112531	ENST00000537883;ENST00000544361	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	T	0.71921	0.3397	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68599	-0.5366	4	.	.	.	-1.6504	20.1358	0.98028	0.0:0.0:1.0:0.0	.	.	.	.	S	210;147	.	.	G	+	1	0	QKI	163907747	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.151000	0.77411	2.833000	0.97629	0.585000	0.79938	GGT		0.398	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	
ZZEF1	23140	hgsc.bcm.edu	37	17	3935538	3935538	+	Silent	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr17:3935538T>C	ENST00000381638.2	-	42	6898	c.6774A>G	c.(6772-6774)ggA>ggG	p.G2258G		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2258							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CGCAGCGGGTTCCCACACAGA	0.443																																																	0			17											88.0	85.0	86.0					17																	3935538		2203	4300	6503	3882287	SO:0001819	synonymous_variant	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6774A>G	17.37:g.3935538T>C			3882287	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	CCDS11043.1																																																																																				0.443	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
TP53	7157	hgsc.bcm.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	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	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYH2	4620	hgsc.bcm.edu	37	17	10436604	10436604	+	Silent	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr17:10436604T>C	ENST00000245503.5	-	21	2823	c.2439A>G	c.(2437-2439)agA>agG	p.R813R	MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.R813R	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	813	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTTATACCTTCTCTCCACCA	0.428																																																	0			17											83.0	84.0	83.0					17																	10436604		2203	4300	6503	10377329	SO:0001819	synonymous_variant	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2439A>G	17.37:g.10436604T>C			10377329	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	CCDS11156.1																																																																																				0.428	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
FLCN	201163	hgsc.bcm.edu	37	17	17131449	17131449	+	Start_Codon_SNP	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr17:17131449C>T	ENST00000285071.4	-	4	457	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-45M22.4_ENST00000427497.3_Start_Codon_SNP_p.M1I|FLCN_ENST00000389169.5_Start_Codon_SNP_p.M1I	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	1					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CGATGGCATTCATGGTGCCTT	0.617									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																																								0			17	GRCh37	CD064549	FLCN	D							40.0	32.0	35.0					17																	17131449		2203	4299	6502	17072174	SO:0001582	initiator_codon_variant	201163	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.3G>A	17.37:g.17131449C>T	ENSP00000285071:p.Met1Ile		17072174	A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	ENST00000285071.4	37	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156200	0.57259	.	.	ENSG00000154803	ENST00000285071;ENST00000389169;ENST00000389168;ENST00000389171	D;D	0.98012	-4.66;-4.14	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.98760	0.9583	.	.	.	0.80722	D	1	D;D;D	0.76494	0.999;0.962;0.999	D;D;D	0.80764	0.994;0.946;0.994	D	0.99821	1.1047	9	0.87932	D	0	-33.6716	18.4682	0.90763	0.0:1.0:0.0:0.0	.	1;1;1	Q8NFG4-3;Q8NFG4-2;Q8NFG4	.;.;FLCN_HUMAN	I	1	ENSP00000285071:M1I;ENSP00000373821:M1I	ENSP00000285071:M1I	M	-	3	0	FLCN	17072174	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.232000	0.78116	2.606000	0.88127	0.655000	0.94253	ATG		0.617	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606	Missense_Mutation
NF1	4763	hgsc.bcm.edu	37	17	29486045	29486045	+	Silent	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr17:29486045T>C	ENST00000358273.4	+	3	605	c.222T>C	c.(220-222)gcT>gcC	p.A74A	NF1_ENST00000431387.4_Silent_p.A74A|NF1_ENST00000356175.3_Silent_p.A74A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	74			A -> D (in mismatch repair deficient cancer cells; dbSNP:rs199474726). {ECO:0000269|PubMed:12522551}.		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.?(4)	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)		TTGGAGAAGCTGCTGAAAAAA	0.328			"""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	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	17											58.0	64.0	62.0					17																	29486045		2202	4299	6501	26510171	SO:0001819	synonymous_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.222T>C	17.37:g.29486045T>C			26510171	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	CCDS42292.1																																																																																				0.328	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
NF1	4763	hgsc.bcm.edu	37	17	29684001	29684001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr17:29684001C>T	ENST00000358273.4	+	53	8145	c.7762C>T	c.(7762-7764)Caa>Taa	p.Q2588*	NF1_ENST00000444181.2_Nonsense_Mutation_p.Q381*|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q2567*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2588					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.?(3)|p.Q2588*(1)	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)		TTCCTCATCACAACAGCACCC	0.398			"""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	12	Whole gene deletion(8)|Unknown(3)|Substitution - Nonsense(1)	soft_tissue(8)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	17	GRCh37	CM000820	NF1	M							195.0	185.0	188.0					17																	29684001		2203	4300	6503	26708127	SO:0001587	stop_gained	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.7762C>T	17.37:g.29684001C>T	ENSP00000351015:p.Gln2588*		26708127	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468526	0.96274	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	.	.	.	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	20.1745	0.98175	0.0:1.0:0.0:0.0	.	.	.	.	X	2588;2567;2233;381	.	ENSP00000348498:Q2567X	Q	+	1	0	NF1	26708127	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.032000	0.64140	2.941000	0.99782	0.655000	0.94253	CAA		0.398	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
GAS2L2	246176	hgsc.bcm.edu	37	17	34072984	34072984	+	Missense_Mutation	SNP	C	C	T	rs144024552		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr17:34072984C>T	ENST00000254466.6	-	6	1559	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R495H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	511					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGTTGGGGGGCGAGCAGGGGG	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19127	0.0		0.0	False		,,,				2504	0.0																0			17						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	41.0	47.0	45.0		1532	-0.2	0.0	17	dbSNP_134	45	0,8600		0,0,4300	no	missense	GAS2L2	NM_139285.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	511/881	34072984	1,13005	2203	4300	6503	31097097	SO:0001583	missense	246176			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1532G>A	17.37:g.34072984C>T	ENSP00000254466:p.Arg511His		31097097	Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302431	0.23736	2.27E-4	0.0	ENSG00000132139	ENST00000254466	T	0.20598	2.06	5.19	-0.158	0.13383	.	1.148570	0.06249	N	0.691803	T	0.13927	0.0337	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.35251	-0.9796	10	0.36615	T	0.2	-0.0957	10.134	0.42695	0.0:0.6882:0.0:0.3118	.	511	Q8NHY3	GA2L2_HUMAN	H	511	ENSP00000254466:R511H	ENSP00000254466:R511H	R	-	2	0	GAS2L2	31097097	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.691000	0.00830	-0.109000	0.12044	-0.940000	0.02684	CGC		0.607	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285	
CDC27	996	hgsc.bcm.edu	37	17	45214661	45214661	+	Silent	SNP	G	G	A	rs111322439		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr17:45214661G>A	ENST00000066544.3	-	14	1863	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	CDC27_ENST00000531206.1_Silent_p.F596F|CDC27_ENST00000527547.1_Silent_p.F589F|CDC27_ENST00000446365.2_Silent_p.F529F	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	590					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TAGCTCTCTGGAAGAATTTAA	0.383																																																	0			17											58.0	61.0	60.0					17																	45214661		2203	4300	6503	42569660	SO:0001819	synonymous_variant	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1770C>T	17.37:g.45214661G>A			42569660	G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	CCDS11509.1																																																																																				0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
ITGB3	3690	hgsc.bcm.edu	37	17	45368326	45368326	+	Missense_Mutation	SNP	C	C	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr17:45368326C>G	ENST00000559488.1	+	9	1148	c.1132C>G	c.(1132-1134)Cgt>Ggt	p.R378G	ITGB3_ENST00000560629.1_Missense_Mutation_p.P366R|ITGB3_ENST00000571680.1_Missense_Mutation_p.R378G|ITGB3_ENST00000435993.2_Missense_Mutation_p.R331G	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	378					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.R378C(2)|p.R331C(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	TCAGAAAATCCGTTCTAAAGT	0.488																																																	3	Substitution - Missense(3)	endometrium(2)|central_nervous_system(1)	17											130.0	119.0	123.0					17																	45368326		2203	4300	6503	42723325	SO:0001583	missense	3690				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1132C>G	17.37:g.45368326C>G	ENSP00000452786:p.Arg378Gly		42723325	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673586	0.67928	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.97772	-4.53	5.48	5.48	0.80851	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98909	0.9630	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.983	D	0.99751	1.1018	10	0.72032	D	0.01	.	18.1076	0.89525	0.0:1.0:0.0:0.0	.	378;378	P05106;Q2YFE1	ITB3_HUMAN;.	G	378;331	ENSP00000407801:R331G	ENSP00000262017:R378G	R	+	1	0	C17orf57	42723325	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	7.783000	0.85696	2.566000	0.86566	0.455000	0.32223	CGT		0.488	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212	
KIF2B	84643	hgsc.bcm.edu	37	17	51901682	51901682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr17:51901682C>T	ENST00000268919.4	+	1	1444	c.1288C>T	c.(1288-1290)Cag>Tag	p.Q430*		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	430	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGCAGTGTTCCAGATCATCCT	0.507																																																	0			17											81.0	65.0	70.0					17																	51901682		2203	4300	6503	49256681	SO:0001587	stop_gained	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1288C>T	17.37:g.51901682C>T	ENSP00000268919:p.Gln430*		49256681	Q96MA2|Q9BXG6	Nonsense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933291	0.92458	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	.	.	.	5.73	5.73	0.89815	.	0.000000	0.42682	D	0.000678	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2577	0.93952	0.0:1.0:0.0:0.0	.	.	.	.	X	430;318	.	ENSP00000268919:Q430X	Q	+	1	0	KIF2B	49256681	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	7.675000	0.84002	2.854000	0.98071	0.655000	0.94253	CAG		0.507	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
BRIP1	83990	hgsc.bcm.edu	37	17	59761141	59761141	+	Missense_Mutation	SNP	G	G	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr17:59761141G>C	ENST00000259008.2	-	20	3533	c.3266C>G	c.(3265-3267)tCt>tGt	p.S1089C		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1089					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CGGATGTTCAGAATGATTTTT	0.368			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	0			17											152.0	154.0	153.0					17																	59761141		2203	4300	6503	57115923	SO:0001583	missense	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3266C>G	17.37:g.59761141G>C	ENSP00000259008:p.Ser1089Cys		57115923	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	4.624	0.115900	0.08831	.	.	ENSG00000136492	ENST00000259008	T	0.75938	-0.98	5.23	4.25	0.50352	.	1.396920	0.04580	N	0.394787	T	0.60287	0.2257	N	0.14661	0.345	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.45804	-0.9236	9	.	.	.	0.0804	9.287	0.37764	0.0:0.1574:0.6798:0.1629	.	1089	Q9BX63	FANCJ_HUMAN	C	1089	ENSP00000259008:S1089C	.	S	-	2	0	BRIP1	57115923	0.015000	0.18098	0.004000	0.12327	0.006000	0.05464	0.937000	0.28951	1.307000	0.44944	0.557000	0.71058	TCT		0.368	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043	
ACE	1636	hgsc.bcm.edu	37	17	61574287	61574287	+	Missense_Mutation	SNP	A	A	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr17:61574287A>C	ENST00000290866.4	+	24	3656	c.3632A>C	c.(3631-3633)gAg>gCg	p.E1211A	ACE_ENST00000490216.2_Missense_Mutation_p.E637A|ACE_ENST00000421982.2_Missense_Mutation_p.E416A|ACE_ENST00000577647.1_Missense_Mutation_p.E637A|ACE_ENST00000413513.3_Missense_Mutation_p.E596A|ACE_ENST00000428043.1_Intron|ACE_ENST00000290863.6_Missense_Mutation_p.E637A	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1211	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTCCGCACGGAGAACGAGCTG	0.652																																																	0			17											29.0	30.0	30.0					17																	61574287		2203	4298	6501	58928019	SO:0001583	missense	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3632A>C	17.37:g.61574287A>C	ENSP00000290866:p.Glu1211Ala		58928019	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	a	10.56	1.384597	0.25031	.	.	ENSG00000159640	ENST00000290866;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T	0.36520	1.25;1.25;1.32;1.32	4.86	4.86	0.63082	.	0.106337	0.64402	D	0.000008	T	0.54581	0.1867	M	0.71581	2.175	0.58432	D	0.999992	D;P;P;D	0.58970	0.97;0.645;0.844;0.984	P;P;B;P	0.58721	0.844;0.542;0.3;0.787	T	0.60796	-0.7192	10	0.87932	D	0	-27.5646	14.4689	0.67501	1.0:0.0:0.0:0.0	.	416;596;637;1211	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	A	1211;637;596;416	ENSP00000290866:E1211A;ENSP00000290863:E637A;ENSP00000392247:E596A;ENSP00000387760:E416A	ENSP00000290863:E637A	E	+	2	0	ACE	58928019	1.000000	0.71417	0.776000	0.31678	0.007000	0.05969	7.337000	0.79256	1.819000	0.53055	0.370000	0.22315	GAG		0.652	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2		
ABCA6	23460	hgsc.bcm.edu	37	17	67079028	67079028	+	Silent	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr17:67079028A>G	ENST00000284425.2	-	36	4776	c.4602T>C	c.(4600-4602)gcT>gcC	p.A1534A	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1534					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CCTGCCCTGCAGCCTGTGGGA	0.433																																																	0			17											202.0	205.0	204.0					17																	67079028		2203	4300	6503	64590623	SO:0001819	synonymous_variant	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4602T>C	17.37:g.67079028A>G			64590623	Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	CCDS11683.1																																																																																				0.433	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
SLC39A11	201266	hgsc.bcm.edu	37	17	71027797	71027797	+	Silent	SNP	C	C	T	rs34317750	byFrequency	TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr17:71027797C>T	ENST00000542342.2	-	4	292	c.204G>A	c.(202-204)acG>acA	p.T68T	SLC39A11_ENST00000579732.1_Silent_p.T68T|SLC39A11_ENST00000255559.3_Silent_p.T68T	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	68					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CCCCAGAGGACGTGGCCATCT	0.532																																					NSCLC(95;736 1527 12296 39625 41839)												0			17											122.0	109.0	113.0					17																	71027797		2203	4300	6503	68539392	SO:0001819	synonymous_variant	201266			AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"""Solute carriers"""	14463	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 26"""	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.204G>A	17.37:g.71027797C>T			68539392	B2R8H7|Q8WZ81	Silent	SNP	ENST00000542342.2	37	CCDS54160.1																																																																																				0.532	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441442.1		
TRPM2	7226	hgsc.bcm.edu	37	21	45855046	45855046	+	Missense_Mutation	SNP	G	G	A	rs550041022		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr21:45855046G>A	ENST00000397928.1	+	28	4452	c.4007G>A	c.(4006-4008)cGc>cAc	p.R1336H	snoZ6_ENST00000581669.1_RNA|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1282H|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1336H|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1386H	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1336					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.R1336H(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTGCGTGGGCGCGGGAGCCTC	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15646	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)	21											89.0	82.0	84.0					21																	45855046		2203	4300	6503	44679474	SO:0001583	missense	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.4007G>A	21.37:g.45855046G>A	ENSP00000381023:p.Arg1336His		44679474	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551389	0.65311	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.79033	-1.23;-1.23;2.42;-1.23	4.86	4.86	0.63082	NUDIX hydrolase domain-like (1);	0.000000	0.64402	D	0.000003	D	0.88526	0.6460	M	0.91459	3.21	0.20074	N	0.999936	D;D;D;D	0.71674	0.998;0.99;0.998;0.966	D;P;P;P	0.63703	0.917;0.72;0.751;0.635	T	0.82448	-0.0452	10	0.87932	D	0	-4.4048	11.4611	0.50211	0.0897:0.0:0.9103:0.0	.	17;1386;1122;1336	B4DVI8;E9PGK7;Q5KTC1;O94759	.;.;.;TRPM2_HUMAN	H	1336;1336;1282;1386;80	ENSP00000300482:R1336H;ENSP00000381023:R1336H;ENSP00000300481:R1282H;ENSP00000381026:R1386H	ENSP00000300481:R1282H	R	+	2	0	TRPM2	44679474	0.850000	0.29656	0.224000	0.23877	0.653000	0.38743	3.901000	0.56303	2.420000	0.82092	0.543000	0.68304	CGC		0.667	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
MEFV	4210	hgsc.bcm.edu	37	16	3293377	3293377	+	Missense_Mutation	SNP	C	C	T	rs104895096		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr16:3293377C>T	ENST00000219596.1	-	10	2149	c.2110G>A	c.(2110-2112)Gtt>Att	p.V704I	MEFV_ENST00000339854.4_Missense_Mutation_p.V524I|MEFV_ENST00000536379.1_Missense_Mutation_p.V493I|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	704	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		V -> I (in arFMF). {ECO:0000269|PubMed:16730661}.		inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GTCGGGGGAACGCTGGACGCC	0.517																																																	0			16	GRCh37	CM012154	MEFV	M	rs104895096						115.0	108.0	110.0					16																	3293377		2197	4300	6497	3233378	SO:0001583	missense	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.2110G>A	16.37:g.3293377C>T	ENSP00000219596:p.Val704Ile		3233378	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.702155	0.00719	.	.	ENSG00000103313	ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.69306	-0.39;-0.39;-0.39	5.06	-10.1	0.00402	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	2.267920	0.01763	N	0.030660	T	0.38374	0.1038	N	0.14661	0.345	0.09310	N	1	B	0.16603	0.018	B	0.06405	0.002	T	0.16958	-1.0385	10	0.20046	T	0.44	-32.5872	2.8611	0.05588	0.2072:0.2652:0.0676:0.46	.	704	O15553	MEFV_HUMAN	I	704;524;493	ENSP00000219596:V704I;ENSP00000339639:V524I;ENSP00000445079:V493I	ENSP00000219596:V704I	V	-	1	0	MEFV	3233378	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.010000	0.01454	-1.745000	0.01337	-0.271000	0.10264	GTT		0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243	
MYH11	4629	hgsc.bcm.edu	37	16	15869986	15869986	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr16:15869986T>C	ENST00000300036.5	-	8	947	c.838A>G	c.(838-840)Aca>Gca	p.T280A	MYH11_ENST00000396324.3_Missense_Mutation_p.T287A|MYH11_ENST00000576790.2_Missense_Mutation_p.T280A|MYH11_ENST00000452625.2_Missense_Mutation_p.T287A	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	280	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATGTGGAATGTCCTCTCGTCT	0.483			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0			16											347.0	310.0	322.0					16																	15869986		2197	4300	6497	15777487	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.838A>G	16.37:g.15869986T>C	ENSP00000300036:p.Thr280Ala		15777487	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.607373	0.46527	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.91	5.91	0.95273	Myosin head, motor domain (2);	0.060749	0.64402	D	0.000003	T	0.62648	0.2445	L	0.33753	1.03	0.54753	D	0.999988	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.001	B;B;B;B;B	0.12837	0.008;0.005;0.005;0.005;0.005	T	0.59220	-0.7495	10	0.56958	D	0.05	.	15.1666	0.72833	0.0:0.0:0.0:1.0	.	287;280;287;280;287	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	A	280;280;287;287;287	ENSP00000300036:T280A;ENSP00000345136:T280A;ENSP00000379616:T287A;ENSP00000407821:T287A	ENSP00000300036:T280A	T	-	1	0	MYH11	15777487	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	2.256000	0.43231	2.263000	0.75096	0.379000	0.24179	ACA		0.483	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
GTF3C1	2975	hgsc.bcm.edu	37	16	27509109	27509109	+	Silent	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr16:27509109C>T	ENST00000356183.4	-	14	2214	c.2199G>A	c.(2197-2199)ggG>ggA	p.G733G	GTF3C1_ENST00000561623.1_Silent_p.G733G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	733					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTTCTGCCTCCCCTTGGGGCA	0.468																																																	0			16											100.0	94.0	96.0					16																	27509109		2197	4300	6497	27416610	SO:0001819	synonymous_variant	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2199G>A	16.37:g.27509109C>T			27416610	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	CCDS32414.1																																																																																				0.468	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	
SPNS1	83985	hgsc.bcm.edu	37	16	28989308	28989308	+	Silent	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr16:28989308C>T	ENST00000311008.11	+	3	764	c.387C>T	c.(385-387)tgC>tgT	p.C129C	RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000561868.1_Intron|SPNS1_ENST00000352260.7_Silent_p.C107C|SPNS1_ENST00000565975.1_Silent_p.C174C|SPNS1_ENST00000334536.8_Silent_p.C129C|RP11-264B17.4_ENST00000567209.1_RNA|SPNS1_ENST00000323081.8_Silent_p.C56C	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	129					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						ATCTCATGTGCGGGGGCATTG	0.577											OREG0023711	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			16											240.0	191.0	207.0					16																	28989308		2197	4300	6497	28896809	SO:0001819	synonymous_variant	83985			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.387C>T	16.37:g.28989308C>T		806	28896809	B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Silent	SNP	ENST00000311008.11	37	CCDS10646.1																																																																																				0.577	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038	
MMP2	4313	hgsc.bcm.edu	37	16	55519570	55519570	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr16:55519570T>A	ENST00000219070.4	+	5	1222	c.713T>A	c.(712-714)tTg>tAg	p.L238*	MMP2_ENST00000543485.1_Nonsense_Mutation_p.L162*|MMP2_ENST00000437642.2_Nonsense_Mutation_p.L188*|MMP2_ENST00000570308.1_Nonsense_Mutation_p.L162*	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	238	Collagen-binding.|Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TTCCCCTTCTTGTTCAATGGC	0.542																																																	0			16											154.0	131.0	139.0					16																	55519570		2198	4300	6498	54077071	SO:0001587	stop_gained	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.713T>A	16.37:g.55519570T>A	ENSP00000219070:p.Leu238*		54077071	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Nonsense_Mutation	SNP	ENST00000219070.4	37	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.869640	0.91587	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	.	.	.	4.66	3.54	0.40534	.	0.311094	0.30556	N	0.009379	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	11.2718	0.49144	0.0:0.0:0.3104:0.6896	.	.	.	.	X	238;162;188	.	ENSP00000219070:L238X	L	+	2	0	MMP2	54077071	1.000000	0.71417	0.972000	0.41901	0.673000	0.39480	2.442000	0.44873	0.636000	0.30508	0.358000	0.22013	TTG		0.542	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3		
SLC6A2	6530	hgsc.bcm.edu	37	16	55729245	55729245	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr16:55729245G>A	ENST00000379906.2	+	7	1333	c.1078G>A	c.(1078-1080)Gcc>Acc	p.A360T	SLC6A2_ENST00000566163.1_Missense_Mutation_p.A315T|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A360T|SLC6A2_ENST00000414754.3_Missense_Mutation_p.A360T|SLC6A2_ENST00000219833.8_Missense_Mutation_p.A360T|SLC6A2_ENST00000568943.1_Missense_Mutation_p.A360T|SLC6A2_ENST00000567238.1_Missense_Mutation_p.A255T	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	360					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTCTGGGTTCGCCATCTTCTC	0.577																																																	0			16											185.0	126.0	146.0					16																	55729245		2198	4300	6498	54286746	SO:0001583	missense	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1078G>A	16.37:g.55729245G>A	ENSP00000369237:p.Ala360Thr		54286746	B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051799	0.75960	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.75367	-0.93;-0.93;-0.93	4.64	4.64	0.57946	.	0.049763	0.85682	D	0.000000	T	0.66528	0.2798	L	0.33753	1.03	0.58432	D	0.999999	P;P;P;P	0.37176	0.586;0.531;0.586;0.586	B;B;B;B	0.35770	0.21;0.133;0.21;0.21	T	0.72200	-0.4362	10	0.66056	D	0.02	.	17.4501	0.87589	0.0:0.0:1.0:0.0	.	360;74;255;360	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	T	360;74;360;360	ENSP00000394956:A360T;ENSP00000369237:A360T;ENSP00000219833:A360T	ENSP00000219833:A360T	A	+	1	0	SLC6A2	54286746	1.000000	0.71417	0.961000	0.40146	0.959000	0.62525	9.107000	0.94261	2.300000	0.77407	0.650000	0.86243	GCC		0.577	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2		
CDH8	1006	hgsc.bcm.edu	37	16	61854860	61854860	+	Silent	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr16:61854860C>T	ENST00000577390.1	-	6	1947	c.993G>A	c.(991-993)caG>caA	p.Q331Q	CDH8_ENST00000584337.1_Silent_p.Q331Q|CDH8_ENST00000577730.1_Silent_p.Q331Q|CDH8_ENST00000299345.6_Silent_p.Q331Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	331	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CATCCTGGGCCTGGGCATCAG	0.383																																																	0			16											143.0	121.0	129.0					16																	61854860		2203	4300	6503	60412361	SO:0001819	synonymous_variant	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.993G>A	16.37:g.61854860C>T			60412361	B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	CCDS10802.1																																																																																				0.383	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
NAE1	8883	hgsc.bcm.edu	37	16	66842915	66842915	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr16:66842915T>C	ENST00000290810.3	-	16	1311	c.1214A>G	c.(1213-1215)gAt>gGt	p.D405G	NAE1_ENST00000394074.2_Missense_Mutation_p.D316G|NAE1_ENST00000359087.4_Missense_Mutation_p.D408G|NAE1_ENST00000379463.2_Missense_Mutation_p.D399G			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	405					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)	p.D405A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	GTTAATTGTATCCAAACCATA	0.308																																																	1	Substitution - Missense(1)	ovary(1)	16											88.0	83.0	85.0					16																	66842915		2200	4300	6500	65400416	SO:0001583	missense	8883			U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1214A>G	16.37:g.66842915T>C	ENSP00000290810:p.Asp405Gly		65400416	A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453660	0.43531	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.14	5.14	0.70334	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.217835	0.45361	D	0.000361	T	0.31451	0.0797	N	0.25647	0.755	0.58432	D	0.999999	B;B;B	0.13145	0.0;0.007;0.0	B;B;B	0.15870	0.001;0.014;0.0	T	0.06752	-1.0809	10	0.27785	T	0.31	-12.7033	14.6507	0.68794	0.0:0.0:0.0:1.0	.	408;405;399	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	G	408;405;399;316	ENSP00000351990:D408G;ENSP00000290810:D405G;ENSP00000368776:D399G;ENSP00000377637:D316G	ENSP00000290810:D405G	D	-	2	0	NAE1	65400416	1.000000	0.71417	0.976000	0.42696	0.882000	0.50991	5.892000	0.69790	1.938000	0.56188	0.528000	0.53228	GAT		0.308	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905	
WDR59	79726	hgsc.bcm.edu	37	16	74908248	74908248	+	Silent	SNP	G	G	A	rs372404261		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr16:74908248G>A	ENST00000262144.6	-	26	2914	c.2784C>T	c.(2782-2784)caC>caT	p.H928H		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	928										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCACAGCCACGTGACAGATGG	0.607																																																	0			16						G		0,4396		0,0,2198	77.0	60.0	66.0		2784	0.7	1.0	16		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WDR59	NM_030581.3		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		928/975	74908248	1,12995	2198	4300	6498	73465749	SO:0001819	synonymous_variant	79726			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.2784C>T	16.37:g.74908248G>A			73465749	B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	CCDS32488.1																																																																																				0.607	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581	
GAN	8139	hgsc.bcm.edu	37	16	81385237	81385237	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr16:81385237A>G	ENST00000568107.2	+	2	379	c.217A>G	c.(217-219)Att>Gtt	p.I73V		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	73	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				AACTTATAAGATTGAACTTGA	0.343																																					GBM(106;1239 1507 7582 9741 33976)												0			16											121.0	113.0	116.0					16																	81385237		2202	4300	6502	79942738	SO:0001583	missense	8139			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.217A>G	16.37:g.81385237A>G	ENSP00000476795:p.Ile73Val		79942738		Missense_Mutation	SNP	ENST00000568107.2	37	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.294312	0.40594	.	.	ENSG00000127688	ENST00000248272	T	0.69806	-0.43	5.88	5.88	0.94601	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	N	0.25426	0.745	0.80722	D	1	P	0.35575	0.51	B	0.42625	0.393	T	0.54337	-0.8309	10	0.02654	T	1	.	16.3009	0.82811	1.0:0.0:0.0:0.0	.	73	Q9H2C0	GAN_HUMAN	V	73	ENSP00000248272:I73V	ENSP00000248272:I73V	I	+	1	0	GAN	79942738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.246000	0.74042	0.533000	0.62120	ATT		0.343	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3		
ZNF521	25925	hgsc.bcm.edu	37	18	22807394	22807394	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr18:22807394C>T	ENST00000361524.3	-	4	636	c.488G>A	c.(487-489)cGc>cAc	p.R163H	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.R163H	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	163					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTTTATGTGGCGATCTCGGCT	0.483			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0			18											134.0	123.0	127.0					18																	22807394		2203	4300	6503	21061392	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.488G>A	18.37:g.22807394C>T	ENSP00000354794:p.Arg163His		21061392	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252790	0.39797	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.26810	1.71;1.71	5.98	5.98	0.97165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	L	0.53249	1.67	0.46458	D	0.999057	D	0.89917	1.0	D	0.97110	1.0	T	0.22417	-1.0217	10	0.45353	T	0.12	-38.6733	20.4434	0.99119	0.0:1.0:0.0:0.0	.	163	Q96K83	ZN521_HUMAN	H	163;197;163	ENSP00000354794:R163H;ENSP00000382352:R163H	ENSP00000354794:R163H	R	-	2	0	ZNF521	21061392	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	7.487000	0.81328	2.838000	0.97847	0.655000	0.94253	CGC		0.483	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
CDH2	1000	hgsc.bcm.edu	37	18	25563001	25563001	+	Silent	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr18:25563001T>C	ENST00000269141.3	-	14	2679	c.2256A>G	c.(2254-2256)gaA>gaG	p.E752E	CDH2_ENST00000399380.3_Silent_p.E721E	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	752					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGCCTGGCGTTCTTTATCCC	0.368																																																	0			18											124.0	123.0	123.0					18																	25563001		2203	4300	6503	23816999	SO:0001819	synonymous_variant	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2256A>G	18.37:g.25563001T>C			23816999	A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	ENST00000269141.3	37	CCDS11891.1																																																																																				0.368	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
ACAA2	10449	hgsc.bcm.edu	37	18	47311574	47311574	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr18:47311574C>T	ENST00000285093.10	-	9	1577	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	ACAA2_ENST00000589432.1_Missense_Mutation_p.E313K|ACAA2_ENST00000587994.1_Missense_Mutation_p.E365K	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	368					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						TACCTTAATTCGTGAACCAGG	0.403																																																	0			18											93.0	84.0	87.0					18																	47311574		2203	4300	6503	45565572	SO:0001583	missense	10449			D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"""mitochondrial 3-oxoacyl-Coenzyme A thiolase"""	604770	"""acetyl-Coenzyme A acyltransferase 2"""			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.1102G>A	18.37:g.47311574C>T	ENSP00000285093:p.Glu368Lys		45565572	Q9BUT6	Missense_Mutation	SNP	ENST00000285093.10	37	CCDS11939.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013385	0.93346	.	.	ENSG00000167315	ENST00000285093	D	0.83506	-1.73	5.6	5.6	0.85130	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90960	0.7158	M	0.94142	3.5	0.80722	D	1	B;P	0.39940	0.1;0.696	B;P	0.45343	0.131;0.477	D	0.92657	0.6138	10	0.72032	D	0.01	-36.356	19.6297	0.95698	0.0:1.0:0.0:0.0	.	368;368	B2RB23;P42765	.;THIM_HUMAN	K	368	ENSP00000285093:E368K	ENSP00000285093:E368K	E	-	1	0	ACAA2	45565572	1.000000	0.71417	0.993000	0.49108	0.762000	0.43233	7.506000	0.81665	2.644000	0.89710	0.655000	0.94253	GAA		0.403	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255921.2	NM_006111	
DCC	1630	hgsc.bcm.edu	37	18	51025778	51025778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr18:51025778C>T	ENST00000442544.2	+	27	4625	c.4009C>T	c.(4009-4011)Cga>Tga	p.R1337*	DCC_ENST00000581580.1_Nonsense_Mutation_p.R970*|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1337					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCTTGTGTTCGACCAACTCA	0.532																																																	0			18											239.0	182.0	201.0					18																	51025778		2203	4300	6503	49279776	SO:0001587	stop_gained	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.4009C>T	18.37:g.51025778C>T	ENSP00000389140:p.Arg1337*		49279776		Nonsense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	45	11.757825	0.99599	.	.	ENSG00000187323	ENST00000442544	.	.	.	6.17	5.28	0.74379	.	0.090025	0.43919	D	0.000517	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1816	15.6428	0.77020	0.1385:0.8615:0.0:0.0	.	.	.	.	X	1337	.	ENSP00000389140:R1337X	R	+	1	2	DCC	49279776	0.996000	0.38824	0.998000	0.56505	0.972000	0.66771	3.546000	0.53656	1.561000	0.49584	0.655000	0.94253	CGA		0.532	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
STARD6	147323	hgsc.bcm.edu	37	18	51851242	51851242	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr18:51851242G>T	ENST00000581310.1	-	9	856	c.483C>A	c.(481-483)aaC>aaA	p.N161K	STARD6_ENST00000307844.3_Missense_Mutation_p.N161K|STARD6_ENST00000580990.2_Missense_Mutation_p.N37K			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	161	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		AATATGCTGGGTTTCTGTAAG	0.328																																																	0			18											80.0	79.0	80.0					18																	51851242		2197	4298	6495	50105240	SO:0001583	missense	147323			AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.483C>A	18.37:g.51851242G>T	ENSP00000462349:p.Asn161Lys		50105240		Missense_Mutation	SNP	ENST00000581310.1	37	CCDS11955.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376937	0.24857	.	.	ENSG00000174448	ENST00000307844	T	0.47528	0.84	5.53	1.32	0.21799	Lipid-binding START (3);START-like domain (1);	0.000000	0.64402	D	0.000001	T	0.57975	0.2090	M	0.74258	2.255	0.37388	D	0.912322	D	0.89917	1.0	D	0.91635	0.999	T	0.62364	-0.6870	10	0.09843	T	0.71	.	6.7166	0.23306	0.4457:0.0:0.5543:0.0	.	161	P59095	STAR6_HUMAN	K	161	ENSP00000310814:N161K	ENSP00000310814:N161K	N	-	3	2	STARD6	50105240	0.983000	0.35010	1.000000	0.80357	0.953000	0.61014	-0.070000	0.11523	0.164000	0.19529	0.411000	0.27672	AAC		0.328	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	NM_139171	
CCBE1	147372	hgsc.bcm.edu	37	18	57103325	57103325	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr18:57103325G>A	ENST00000439986.4	-	11	1073	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C	CCBE1_ENST00000398179.2_Missense_Mutation_p.R75C	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	346					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)	p.R346C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				ATGTCATTGCGGATGTCAGCC	0.522																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)												1	Substitution - Missense(1)	lung(1)	18											122.0	127.0	126.0					18																	57103325		2203	4300	6503	55254305	SO:0001583	missense	147372			AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.1036C>T	18.37:g.57103325G>A	ENSP00000404464:p.Arg346Cys		55254305	Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360196	0.82353	.	.	ENSG00000183287	ENST00000439986;ENST00000398179	D;D	0.94576	-3.46;-3.46	5.79	4.87	0.63330	.	0.096988	0.64402	D	0.000002	D	0.96281	0.8787	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.999	D	0.95925	0.8934	10	0.87932	D	0	-29.0958	11.6681	0.51385	0.0:0.0:0.6816:0.3184	.	75;346;155	Q6UXH8-2;Q6UXH8;Q6UXH8-3	.;CCBE1_HUMAN;.	C	346;75	ENSP00000404464:R346C;ENSP00000381241:R75C	ENSP00000381241:R75C	R	-	1	0	CCBE1	55254305	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.175000	0.58263	2.731000	0.93534	0.650000	0.86243	CGC		0.522	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459	
SRGAP3	9901	hgsc.bcm.edu	37	3	9034656	9034656	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr3:9034656G>A	ENST00000383836.3	-	20	2919	c.2492C>T	c.(2491-2493)tCc>tTc	p.S831F	SRGAP3_ENST00000360413.3_Missense_Mutation_p.S807F	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	831					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GTCGTTTTTGGAAGAGGCCTT	0.582			T	RAF1	pilocytic astrocytoma																																			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0			3											83.0	71.0	75.0					3																	9034656		2203	4300	6503	9009656	SO:0001583	missense	9901			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2492C>T	3.37:g.9034656G>A	ENSP00000373347:p.Ser831Phe		9009656	Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212068	0.58452	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.27402	1.67;2.08	5.41	5.41	0.78517	Src homology-3 domain (1);	0.117770	0.64402	D	0.000014	T	0.32675	0.0837	L	0.46157	1.445	0.54753	D	0.999983	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.08472	-1.0720	10	0.72032	D	0.01	.	18.7906	0.91973	0.0:0.0:1.0:0.0	.	807;831	O43295-2;O43295	.;SRGP2_HUMAN	F	831;807	ENSP00000373347:S831F;ENSP00000353587:S807F	ENSP00000353587:S807F	S	-	2	0	SRGAP3	9009656	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.513000	0.73742	2.526000	0.85167	0.591000	0.81541	TCC		0.582	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3		
MLH1	4292	hgsc.bcm.edu	37	3	37050324	37050324	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr3:37050324A>G	ENST00000231790.2	+	6	689	c.473A>G	c.(472-474)aAc>aGc	p.N158S	MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000539477.1_Intron|MLH1_ENST00000435176.1_Missense_Mutation_p.N60S|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000536378.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	158					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CTTTTTTACAACATAGCCACG	0.383		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	1	Whole gene deletion(1)	ovary(1)	3											93.0	94.0	94.0					3																	37050324		2203	4300	6503	37025328	SO:0001583	missense	4292	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.473A>G	3.37:g.37050324A>G	ENSP00000231790:p.Asn158Ser		37025328	B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.1|27.1	4.804810|4.804810	0.90623|0.90623	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000435176;ENST00000429117|ENST00000456676	D;D;T|.	0.90955|.	-2.76;-2.76;-0.92|.	6.17|6.17	6.17|6.17	0.99709|0.99709	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (3);|.	0.088124|.	0.85682|.	D|.	0.000000|.	D|D	0.84465|0.84465	0.5478|0.5478	M|M	0.90542|0.90542	3.125|3.125	0.80722|0.80722	D|D	1|1	D;D;D|.	0.60160|.	0.987;0.97;0.987|.	P;P;P|.	0.56278|.	0.718;0.718;0.795|.	D|D	0.87176|0.87176	0.2224|0.2224	10|5	0.66056|.	D|.	0.02|.	-27.2727|-27.2727	16.4837|16.4837	0.84171|0.84171	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	60;158;158|.	E9PCU2;Q53GX1;P40692|.	.;.;MLH1_HUMAN|.	S|A	158;124;124;22;60;60|150	ENSP00000231790:N158S;ENSP00000402564:N60S;ENSP00000407019:N60S|.	ENSP00000231790:N158S|.	N|T	+|+	2|1	0|0	MLH1|MLH1	37025328|37025328	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.783000|7.783000	0.85696|0.85696	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AAC|ACA		0.383	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266197	41266197	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr3:41266197A>G	ENST00000349496.5	+	3	474	c.194A>G	c.(193-195)gAg>gGg	p.E65G	CTNNB1_ENST00000405570.1_Missense_Mutation_p.E65G|CTNNB1_ENST00000453024.1_Missense_Mutation_p.E58G|CTNNB1_ENST00000396183.3_Missense_Mutation_p.E65G|CTNNB1_ENST00000396185.3_Missense_Mutation_p.E65G	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	65					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.P16_K133del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.M8_A80del(1)|p.A21_A80del(1)|p.V22_S71>A(1)|p.A20_S111del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GTCCTGTATGAGTGGGAACAG	0.448		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	105	Deletion - In frame(83)|Complex - deletion inframe(15)|Unknown(7)	liver(76)|large_intestine(16)|stomach(7)|small_intestine(2)|skin(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)	3											55.0	54.0	54.0					3																	41266197		2203	4300	6503	41241201	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.194A>G	3.37:g.41266197A>G	ENSP00000344456:p.Glu65Gly		41241201	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.287510	0.59976	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.55052	0.54;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.91	5.91	0.95273	.	0.091563	0.85682	D	0.000000	T	0.50069	0.1594	L	0.46157	1.445	0.80722	D	1	B	0.18968	0.032	B	0.20184	0.028	T	0.46596	-0.9180	10	0.66056	D	0.02	-11.2622	16.3453	0.83126	1.0:0.0:0.0:0.0	.	65	P35222	CTNB1_HUMAN	G	58;65;65;65;65;58;65;65;65	ENSP00000400508:E58G;ENSP00000385604:E65G;ENSP00000412219:E65G;ENSP00000379486:E65G;ENSP00000344456:E65G;ENSP00000411226:E58G;ENSP00000379488:E65G;ENSP00000409302:E65G;ENSP00000401599:E65G	ENSP00000344456:E65G	E	+	2	0	CTNNB1	41241201	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.519000	0.81809	2.261000	0.74972	0.533000	0.62120	GAG		0.448	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
SETD2	29072	hgsc.bcm.edu	37	3	47144860	47144860	+	Silent	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr3:47144860A>G	ENST00000409792.3	-	7	4935	c.4893T>C	c.(4891-4893)tgT>tgC	p.C1631C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1631	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AATTTGGTTCACAGCTGTGAT	0.333			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0			3											170.0	155.0	160.0					3																	47144860		2203	4300	6503	47119864	SO:0001819	synonymous_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4893T>C	3.37:g.47144860A>G			47119864	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Silent	SNP	ENST00000409792.3	37	CCDS2749.2																																																																																				0.333	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
CELSR3	1951	hgsc.bcm.edu	37	3	48697378	48697378	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr3:48697378A>G	ENST00000164024.4	-	1	2970	c.2690T>C	c.(2689-2691)cTg>cCg	p.L897P	CELSR3_ENST00000544264.1_Missense_Mutation_p.L897P	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	897	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTTGTCCTCCAGGAGATAGGT	0.522																																																	0			3											101.0	89.0	93.0					3																	48697378		2203	4300	6503	48672382	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2690T>C	3.37:g.48697378A>G	ENSP00000164024:p.Leu897Pro		48672382	O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.295968	0.60086	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.02085	4.46;4.46	5.65	5.65	0.86999	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20251	0.0487	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.992;0.998	T	0.08534	-1.0717	9	0.87932	D	0	.	15.8723	0.79129	1.0:0.0:0.0:0.0	.	897;967	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	P	897	ENSP00000164024:L897P;ENSP00000445694:L897P	ENSP00000164024:L897P	L	-	2	0	CELSR3	48672382	1.000000	0.71417	0.996000	0.52242	0.949000	0.60115	9.331000	0.96430	2.154000	0.67381	0.448000	0.29417	CTG		0.522	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407	
ITIH3	3699	hgsc.bcm.edu	37	3	52828867	52828867	+	Silent	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr3:52828867C>T	ENST00000449956.2	+	1	54	c.48C>T	c.(46-48)agC>agT	p.S16S	ITIH3_ENST00000416872.2_Silent_p.S16S	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	16					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGCTCTCCAGCTTGGCAGCCT	0.582																																																	0			3											120.0	131.0	127.0					3																	52828867		2063	4213	6276	52803907	SO:0001819	synonymous_variant	3699				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.48C>T	3.37:g.52828867C>T			52803907	Q3B7H5|Q53F06|Q6LAM2|Q99085	Silent	SNP	ENST00000449956.2	37	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	C	0.735	-0.778465	0.02929	.	.	ENSG00000162267	ENST00000273291	.	.	.	4.89	3.1	0.35709	.	0.751653	0.12829	N	0.435799	T	0.31544	0.0800	.	.	.	0.32284	N	0.567219	.	.	.	.	.	.	T	0.35724	-0.9777	6	0.12430	T	0.62	0.0215	7.4049	0.26985	0.0:0.8036:0.0:0.1964	.	.	.	.	F	13	.	ENSP00000273291:L13F	L	+	1	0	ITIH3	52803907	0.566000	0.26618	0.139000	0.22197	0.109000	0.19521	1.746000	0.38288	0.778000	0.33520	-0.218000	0.12543	CTT		0.582	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217	
ROBO1	6091	hgsc.bcm.edu	37	3	78667156	78667156	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr3:78667156G>A	ENST00000464233.1	-	27	4024	c.3911C>T	c.(3910-3912)cCg>cTg	p.P1304L	ROBO1_ENST00000495273.1_Missense_Mutation_p.P1259L|ROBO1_ENST00000467549.1_Missense_Mutation_p.P1204L|ROBO1_ENST00000436010.2_Missense_Mutation_p.P1265L	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1304					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGGGGAGATCGGCCGTGGTGG	0.493																																																	0			3											48.0	49.0	49.0					3																	78667156		1965	4160	6125	78749846	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3911C>T	3.37:g.78667156G>A	ENSP00000420321:p.Pro1304Leu		78749846	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429465	0.62844	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.71934	-0.26;-0.3;-0.27;-0.61	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.78329	0.4266	L	0.32530	0.975	0.80722	D	1	D;B;D;D;D	0.89917	1.0;0.297;1.0;0.997;0.976	D;B;D;P;P	0.87578	0.998;0.026;0.998;0.668;0.668	T	0.75110	-0.3433	9	.	.	.	.	19.7984	0.96495	0.0:0.0:1.0:0.0	.	1268;1304;1259;1204;1265	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	L	1265;1259;1304;1259;1204;1308	ENSP00000406043:P1265L;ENSP00000420321:P1304L;ENSP00000420637:P1259L;ENSP00000417992:P1204L	.	P	-	2	0	ROBO1	78749846	1.000000	0.71417	0.831000	0.32960	0.014000	0.08584	9.813000	0.99286	2.753000	0.94483	0.467000	0.42956	CCG		0.493	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
OSBPL11	114885	hgsc.bcm.edu	37	3	125295149	125295149	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr3:125295149A>G	ENST00000296220.5	-	5	839	c.550T>C	c.(550-552)Tcg>Ccg	p.S184P		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	184			S -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTCCTCTGCGATATAGGAGAA	0.368																																																	0			3											92.0	95.0	94.0					3																	125295149		2203	4300	6503	126777839	SO:0001583	missense	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.550T>C	3.37:g.125295149A>G	ENSP00000296220:p.Ser184Pro		126777839	A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.287271	0.40494	.	.	ENSG00000144909	ENST00000296220	T	0.44083	0.93	5.06	3.88	0.44766	.	0.419093	0.25114	N	0.033038	T	0.32941	0.0846	M	0.62723	1.935	0.42291	D	0.992136	P	0.34909	0.475	B	0.31614	0.133	T	0.18871	-1.0323	10	0.38643	T	0.18	-1.471	3.15	0.06484	0.5794:0.2178:0.0764:0.1265	.	184	Q9BXB4	OSB11_HUMAN	P	184	ENSP00000296220:S184P	ENSP00000296220:S184P	S	-	1	0	OSBPL11	126777839	0.889000	0.30405	1.000000	0.80357	0.991000	0.79684	2.530000	0.45641	0.923000	0.37045	0.451000	0.29950	TCG		0.368	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776	
COL6A6	131873	hgsc.bcm.edu	37	3	130300560	130300560	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr3:130300560A>G	ENST00000358511.6	+	8	3734	c.3703A>G	c.(3703-3705)Act>Gct	p.T1235A	COL6A6_ENST00000453409.2_Missense_Mutation_p.T1235A	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1235	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGGCACAGAGACTCAGGTCAG	0.448																																																	0			3											98.0	96.0	97.0					3																	130300560		2018	4175	6193	131783250	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3703A>G	3.37:g.130300560A>G	ENSP00000351310:p.Thr1235Ala		131783250	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.666675	0.47677	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.38887	1.11;1.11	6.06	6.06	0.98353	von Willebrand factor, type A (2);	.	.	.	.	T	0.32556	0.0833	N	0.24115	0.695	0.28237	N	0.925854	P	0.52463	0.953	P	0.47603	0.551	T	0.07233	-1.0783	9	0.08179	T	0.78	.	11.5702	0.50829	0.8509:0.1491:0.0:0.0	.	1235	A6NMZ7	CO6A6_HUMAN	A	1235	ENSP00000351310:T1235A;ENSP00000399236:T1235A	ENSP00000351310:T1235A	T	+	1	0	COL6A6	131783250	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.558000	0.45879	2.324000	0.78689	0.533000	0.62120	ACT		0.448	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
TNIK	23043	hgsc.bcm.edu	37	3	170885009	170885009	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr3:170885009C>A	ENST00000436636.2	-	10	1168	c.824G>T	c.(823-825)aGc>aTc	p.S275I	TNIK_ENST00000475336.1_Missense_Mutation_p.S275I|TNIK_ENST00000460047.1_Missense_Mutation_p.S275I|TNIK_ENST00000488470.1_Missense_Mutation_p.S275I|TNIK_ENST00000284483.8_Missense_Mutation_p.S275I|TNIK_ENST00000369326.5_Missense_Mutation_p.S275I|TNIK_ENST00000357327.5_Missense_Mutation_p.S275I|TNIK_ENST00000470834.1_Missense_Mutation_p.S275I|TNIK_ENST00000538048.1_Missense_Mutation_p.S275I|TNIK_ENST00000341852.6_Missense_Mutation_p.S275I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGGTCGCTGGCTGTGATTCTT	0.408																																																	0			3											136.0	119.0	125.0					3																	170885009		1910	4136	6046	172367703	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.824G>T	3.37:g.170885009C>A	ENSP00000399511:p.Ser275Ile		172367703	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605352	0.46423	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834;ENST00000468757	D;D;D;D;D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.33	4.45	0.53987	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.125985	0.64402	D	0.000001	D	0.84629	0.5514	M	0.66378	2.025	0.54753	D	0.999983	B;B;B;P;B;B;B;B	0.47484	0.013;0.042;0.337;0.896;0.042;0.042;0.337;0.052	B;B;B;P;B;B;B;B	0.45753	0.024;0.015;0.392;0.492;0.015;0.015;0.392;0.025	T	0.82186	-0.0582	10	0.19147	T	0.46	.	14.2107	0.65762	0.0:0.9275:0.0:0.0725	.	275;275;275;275;275;275;275;275	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	I	275;275;275;275;275;275;275;275;275;275;249	ENSP00000399511:S275I;ENSP00000358332:S275I;ENSP00000443278:S275I;ENSP00000345352:S275I;ENSP00000284483:S275I;ENSP00000418156:S275I;ENSP00000349880:S275I;ENSP00000418916:S275I;ENSP00000418378:S275I;ENSP00000419990:S275I;ENSP00000417338:S249I	ENSP00000284483:S275I	S	-	2	0	TNIK	172367703	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.977000	0.40589	1.366000	0.46076	0.655000	0.94253	AGC		0.408	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
PIK3CA	5290	hgsc.bcm.edu	37	3	178947850	178947850	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr3:178947850T>C	ENST00000263967.3	+	19	2882	c.2725T>C	c.(2725-2727)Ttc>Ctc	p.F909L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	909	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.F909L(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGTAGCTACCTTCATTTTGGG	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	4	Substitution - Missense(4)	large_intestine(2)|endometrium(2)	3											200.0	188.0	192.0					3																	178947850		1899	4124	6023	180430544	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2725T>C	3.37:g.178947850T>C	ENSP00000263967:p.Phe909Leu		180430544	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.802275	0.90538	.	.	ENSG00000121879	ENST00000263967	T	0.75477	-0.94	5.61	5.61	0.85477	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.74419	0.3714	L	0.49455	1.56	0.80722	D	1	P	0.37612	0.602	B	0.42245	0.381	T	0.77405	-0.2600	10	0.87932	D	0	-12.9985	15.802	0.78458	0.0:0.0:0.0:1.0	.	909	P42336	PK3CA_HUMAN	L	909	ENSP00000263967:F909L	ENSP00000263967:F909L	F	+	1	0	PIK3CA	180430544	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	7.611000	0.82962	2.139000	0.66308	0.477000	0.44152	TTC		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
LRCH3	84859	hgsc.bcm.edu	37	3	197553751	197553751	+	Silent	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr3:197553751C>T	ENST00000425562.2	+	5	643	c.643C>T	c.(643-645)Ctg>Ttg	p.L215L	LRCH3_ENST00000438796.2_Silent_p.L215L|LRCH3_ENST00000334859.4_Silent_p.L215L|LRCH3_ENST00000414675.2_Silent_p.L215L|LRCH3_ENST00000536618.1_5'Flank|LRCH3_ENST00000441090.2_Silent_p.L89L			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	215						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TCTTGCAGAGCTGGCGGAGTT	0.363																																																	0			3											125.0	118.0	121.0					3																	197553751		2203	4300	6503	199038148	SO:0001819	synonymous_variant	84859			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.643C>T	3.37:g.197553751C>T			199038148	B4E0T7|Q96FP9|Q9NT52	Silent	SNP	ENST00000425562.2	37																																																																																					0.363	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773	
FGF23	8074	hgsc.bcm.edu	37	12	4481831	4481831	+	Missense_Mutation	SNP	A	A	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr12:4481831A>C	ENST00000237837.1	-	2	389	c.244T>G	c.(244-246)Ttt>Gtt	p.F82V		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	82					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			ATCACCACAAAGCCAGCATCC	0.458																																																	0			12											159.0	138.0	145.0					12																	4481831		2203	4300	6503	4352092	SO:0001583	missense	8074			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.244T>G	12.37:g.4481831A>C	ENSP00000237837:p.Phe82Val		4352092	Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	A	7.504	0.653236	0.14580	.	.	ENSG00000118972	ENST00000237837	D	0.84298	-1.83	4.75	3.59	0.41128	.	0.336301	0.36167	N	0.002755	T	0.51635	0.1686	N	0.00493	-1.44	0.09310	N	0.999996	B	0.26120	0.142	B	0.24394	0.053	T	0.55062	-0.8199	10	0.02654	T	1	-16.9928	7.9433	0.29971	0.8309:0.0:0.1691:0.0	.	82	Q9GZV9	FGF23_HUMAN	V	82	ENSP00000237837:F82V	ENSP00000237837:F82V	F	-	1	0	FGF23	4352092	0.995000	0.38212	0.997000	0.53966	0.994000	0.84299	3.494000	0.53273	1.994000	0.58287	0.448000	0.29417	TTT		0.458	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1		
VWF	7450	hgsc.bcm.edu	37	12	6128300	6128300	+	Silent	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr12:6128300G>A	ENST00000261405.5	-	28	4538	c.4284C>T	c.(4282-4284)atC>atT	p.I1428I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1428	VWFA 1; binding site for platelet glycoprotein Ib. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTGCTTCTCGATGAGGCGGA	0.577																																																	0			12											76.0	76.0	76.0					12																	6128300		2203	4300	6503	5998561	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4284C>T	12.37:g.6128300G>A			5998561	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																				0.577	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
CLEC2B	9976	hgsc.bcm.edu	37	12	10010127	10010127	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr12:10010127G>T	ENST00000228438.2	-	3	1116	c.183C>A	c.(181-183)taC>taA	p.Y61*	CLEC2B_ENST00000538152.1_5'Flank	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	61	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(3)|lung(1)	5						TGGAACAGTTGTATTTACTTG	0.338																																																	0			12											90.0	85.0	87.0					12																	10010127		2202	4297	6499	9901394	SO:0001587	stop_gained	51266			X96719	CCDS8605.1	12p13-p12	2005-02-09	2005-02-09	2005-02-09		ENSG00000110852		"""C-type lectin domain containing"""	2053	protein-coding gene	gene with protein product		603242	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced)"""	CLECSF2		9038101	Standard	NM_005127		Approved	AICL, HP10085	uc001qwn.3	Q92478		ENST00000228438.2:c.183C>A	12.37:g.10010127G>T	ENSP00000228438:p.Tyr61*		9901394	B2R9U1|Q8IZE9|Q9BS74|Q9UQB4	Nonsense_Mutation	SNP	ENST00000228438.2	37	CCDS8605.1	.	.	.	.	.	.	.	.	.	.	G	39	7.288455	0.98189	.	.	ENSG00000110852	ENST00000228438	.	.	.	2.79	-2.88	0.05682	.	2.271790	0.02440	N	0.084424	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	0.5183	0.00608	0.3671:0.1775:0.2752:0.1802	.	.	.	.	X	61	.	ENSP00000228438:Y61X	Y	-	3	2	CLEC2B	9901394	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.052000	0.11865	-0.778000	0.04566	0.591000	0.81541	TAC		0.338	CLEC2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399881.1	NM_005127	
SPX	80763	hgsc.bcm.edu	37	12	21681996	21681996	+	Silent	SNP	G	G	A	rs547568893		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr12:21681996G>A	ENST00000256969.2	+	5	436	c.270G>A	c.(268-270)gcG>gcA	p.A90A	C12orf39_ENST00000543800.1_3'UTR	NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN		90					long-chain fatty acid import (GO:0044539)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of renal sodium excretion (GO:0035814)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of sensory perception of pain (GO:0051930)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TCTTACTGGCGTCCCTTCAGA	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18861	0.0		0.0	False		,,,				2504	0.0																0			12											152.0	150.0	150.0					12																	21681996		2203	4300	6503	21573263	SO:0001819	synonymous_variant	80763																														ENST00000256969.2:c.270G>A	12.37:g.21681996G>A			21573263	B3KND6	Silent	SNP	ENST00000256969.2	37	CCDS31757.1																																																																																				0.438	C12orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402389.1		
ADAMTS20	80070	hgsc.bcm.edu	37	12	43777717	43777717	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr12:43777717C>A	ENST00000389420.3	-	30	4515	c.4516G>T	c.(4516-4518)Ggt>Tgt	p.G1506C		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1506	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACCACCTGACCAACACCTTTC	0.493																																																	0			12											130.0	103.0	112.0					12																	43777717		2203	4300	6503	42063984	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4516G>T	12.37:g.43777717C>A	ENSP00000374071:p.Gly1506Cys		42063984	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809801	0.90707	.	.	ENSG00000173157	ENST00000389420	T	0.56444	0.46	4.25	4.25	0.50352	.	0.123269	0.36268	N	0.002682	T	0.79275	0.4418	M	0.93808	3.46	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.85196	0.1012	10	0.66056	D	0.02	.	17.9573	0.89073	0.0:1.0:0.0:0.0	.	1506	P59510	ATS20_HUMAN	C	1506	ENSP00000374071:G1506C	ENSP00000374071:G1506C	G	-	1	0	ADAMTS20	42063984	0.997000	0.39634	0.206000	0.23566	0.745000	0.42441	6.073000	0.71245	2.650000	0.89964	0.655000	0.94253	GGT		0.493	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
KRT81	3887	hgsc.bcm.edu	37	12	52681070	52681070	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr12:52681070G>T	ENST00000327741.5	-	7	1131	c.1063C>A	c.(1063-1065)Cag>Aag	p.Q355K	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	355	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCACCCTGCTGCTCAGACTGG	0.602																																																	0			12											25.0	28.0	27.0					12																	52681070		2201	4298	6499	50967337	SO:0001583	missense	3887			X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.1063C>A	12.37:g.52681070G>T	ENSP00000369349:p.Gln355Lys		50967337	Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	CCDS31805.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172818	0.57584	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.88509	-2.39	5.1	3.23	0.37069	Filament (1);	0.000000	0.39834	U	0.001258	D	0.93291	0.7862	M	0.89095	3.005	0.30276	N	0.791801	P	0.48503	0.911	P	0.57244	0.816	D	0.90755	0.4660	10	0.87932	D	0	.	9.9183	0.41448	0.0735:0.3824:0.5441:0.0	.	355	Q14533	KRT81_HUMAN	K	355	ENSP00000369349:Q355K	ENSP00000369349:Q355K	Q	-	1	0	KRT81	50967337	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	1.093000	0.30939	1.125000	0.41998	-0.304000	0.09214	CAG		0.602	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281	
KRT77	374454	hgsc.bcm.edu	37	12	53091627	53091627	+	Silent	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr12:53091627C>T	ENST00000341809.3	-	2	625	c.597G>A	c.(595-597)ctG>ctA	p.L199L	KRT77_ENST00000537195.1_5'UTR|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	199	Coil 1A.|Rod.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TCACCTGCTGCAGCAACTCCC	0.567																																																	0			12											182.0	168.0	173.0					12																	53091627		2203	4300	6503	51377894	SO:0001819	synonymous_variant	374454			BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20411	protein-coding gene	gene with protein product		611158	"""keratin 1B"""	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.597G>A	12.37:g.53091627C>T			51377894	Q7RTS8	Silent	SNP	ENST00000341809.3	37	CCDS8837.1																																																																																				0.567	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078	
R3HDM2	22864	hgsc.bcm.edu	37	12	57648643	57648643	+	Silent	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr12:57648643A>G	ENST00000347140.3	-	24	3234	c.2844T>C	c.(2842-2844)cgT>cgC	p.R948R	R3HDM2_ENST00000403821.2_Silent_p.R982R|RP11-123K3.4_ENST00000548184.1_Intron|R3HDM2_ENST00000441731.2_Silent_p.R643R|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000358907.2_Silent_p.R948R|R3HDM2_ENST00000402412.1_Silent_p.R962R			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	948						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGTTGTTGAGACGAAGGGAGG	0.567																																																	0			12											80.0	74.0	76.0					12																	57648643		2203	4300	6503	55934910	SO:0001819	synonymous_variant	22864			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.2844T>C	12.37:g.57648643A>G			55934910	Q2M1T9|Q3ZCT5	Silent	SNP	ENST00000347140.3	37	CCDS8937.2																																																																																				0.567	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925	
FGD6	55785	hgsc.bcm.edu	37	12	95604081	95604081	+	Missense_Mutation	SNP	G	G	A	rs138823345	byFrequency	TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr12:95604081G>A	ENST00000343958.4	-	2	1202	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	FGD6_ENST00000546711.1_Missense_Mutation_p.R327C|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Missense_Mutation_p.R327C	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	327					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CACTTTTGGCGTAACAGACGA	0.408													G|||	4	0.000798722	0.0	0.0043	5008	,	,		19824	0.0		0.001	False		,,,				2504	0.0																0			12						G	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	121.0	124.0	123.0		979	5.7	0.9	12	dbSNP_134	123	5,8595	4.3+/-15.6	0,5,4295	yes	missense	FGD6	NM_018351.3	180	0,8,6495	AA,AG,GG		0.0581,0.0681,0.0615	probably-damaging	327/1431	95604081	8,12998	2203	4300	6503	94128212	SO:0001583	missense	55785			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.979C>T	12.37:g.95604081G>A	ENSP00000344446:p.Arg327Cys		94128212	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	15.09	2.731183	0.48939	6.81E-4	5.81E-4	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.80304	-1.22;-1.33;-1.36	5.71	5.71	0.89125	.	0.000000	0.47093	D	0.000242	D	0.86410	0.5926	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88126	0.2835	10	0.87932	D	0	-6.6615	19.8647	0.96799	0.0:0.0:1.0:0.0	.	327	Q6ZV73	FGD6_HUMAN	C	327	ENSP00000344446:R327C;ENSP00000450342:R327C;ENSP00000449005:R327C	ENSP00000344446:R327C	R	-	1	0	FGD6	94128212	1.000000	0.71417	0.885000	0.34714	0.188000	0.23474	4.914000	0.63348	2.684000	0.91462	0.561000	0.74099	CGC		0.408	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351	
UTP20	27340	hgsc.bcm.edu	37	12	101759291	101759291	+	Missense_Mutation	SNP	C	C	T	rs143153802	byFrequency	TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr12:101759291C>T	ENST00000261637.4	+	46	6187	c.6013C>T	c.(6013-6015)Cgc>Tgc	p.R2005C		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2005					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGAAACTTTACGCCGAATCAC	0.378													C|||	9	0.00179712	0.0068	0.0	5008	,	,		16849	0.0		0.0	False		,,,				2504	0.0																0			12						C	CYS/ARG	21,4385	28.1+/-56.4	0,21,2182	71.0	69.0	70.0		6013	5.9	1.0	12	dbSNP_134	70	0,8600		0,0,4300	no	missense	UTP20	NM_014503.2	180	0,21,6482	TT,TC,CC		0.0,0.4766,0.1615	probably-damaging	2005/2786	101759291	21,12985	2203	4300	6503	100283422	SO:0001583	missense	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6013C>T	12.37:g.101759291C>T	ENSP00000261637:p.Arg2005Cys		100283422	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	19.59	3.855545	0.71834	0.004766	0.0	ENSG00000120800	ENST00000261637	T	0.22945	1.93	5.92	5.92	0.95590	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60418	0.2267	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.65553	-0.6140	10	0.72032	D	0.01	-7.4616	20.3206	0.98668	0.0:1.0:0.0:0.0	.	2005	O75691	UTP20_HUMAN	C	2005	ENSP00000261637:R2005C	ENSP00000261637:R2005C	R	+	1	0	UTP20	100283422	1.000000	0.71417	0.999000	0.59377	0.225000	0.24961	4.998000	0.63927	2.809000	0.96659	0.655000	0.94253	CGC		0.378	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
SETD1B	23067	hgsc.bcm.edu	37	12	122257345	122257345	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr12:122257345G>A	ENST00000604567.1	+	11	3522	c.3454G>A	c.(3454-3456)Gcc>Acc	p.A1152T	SETD1B_ENST00000267197.5_Missense_Mutation_p.A1109T|SETD1B_ENST00000542440.1_Missense_Mutation_p.A1109T			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	1152	Glu-rich.|Pro-rich.|Ser-rich.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						CAAGGCCGAAGCCACGTCGTC	0.622																																																	0			12											41.0	46.0	44.0					12																	122257345		692	1591	2283	120741728	SO:0001583	missense	23067			AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.3454G>A	12.37:g.122257345G>A	ENSP00000474253:p.Ala1152Thr		120741728	F6MFW1	Missense_Mutation	SNP	ENST00000604567.1	37		.	.	.	.	.	.	.	.	.	.	G	4.951	0.176664	0.09443	.	.	ENSG00000139718	ENST00000542440;ENST00000267197	T;T	0.37411	1.2;1.2	5.1	2.14	0.27477	.	.	.	.	.	T	0.24122	0.0584	L	0.40543	1.245	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.27262	-1.0079	9	0.15066	T	0.55	.	5.5198	0.16925	0.2205:0.2657:0.5138:0.0	.	1109	Q9UPS6	SET1B_HUMAN	T	1109	ENSP00000442924:A1109T;ENSP00000267197:A1109T	ENSP00000267197:A1109T	A	+	1	0	SETD1B	120741728	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	0.513000	0.22770	0.559000	0.29153	0.305000	0.20034	GCC		0.622	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000468264.1	XM_037523	
KNTC1	9735	hgsc.bcm.edu	37	12	123042001	123042001	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr12:123042001A>G	ENST00000333479.7	+	17	1520	c.1343A>G	c.(1342-1344)cAg>cGg	p.Q448R	KNTC1_ENST00000450485.2_Missense_Mutation_p.Q411R	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	448					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GCCAGTGAACAGACCGAATGG	0.383																																																	0			12											126.0	116.0	119.0					12																	123042001		1884	4124	6008	121607954	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1343A>G	12.37:g.123042001A>G	ENSP00000328236:p.Gln448Arg		121607954	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	8.153	0.787834	0.16258	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.22945	1.93;2.5	5.74	-1.3	0.09259	.	0.332014	0.32357	N	0.006218	T	0.18383	0.0441	L	0.51422	1.61	0.54753	D	0.999989	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.09314	-1.0680	10	0.23891	T	0.37	-0.5724	8.5362	0.33364	0.5957:0.3205:0.0838:0.0	.	411;448	E7ES84;P50748	.;KNTC1_HUMAN	R	411;448	ENSP00000397992:Q411R;ENSP00000328236:Q448R	ENSP00000328236:Q448R	Q	+	2	0	KNTC1	121607954	0.971000	0.33674	0.055000	0.19348	0.117000	0.20001	2.392000	0.44433	-0.062000	0.13088	0.460000	0.39030	CAG		0.383	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2		
NCOR2	9612	hgsc.bcm.edu	37	12	124821682	124821682	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr12:124821682G>A	ENST00000405201.1	-	38	5732	c.5732C>T	c.(5731-5733)cCa>cTa	p.P1911L	NCOR2_ENST00000404621.1_Missense_Mutation_p.P1901L|NCOR2_ENST00000356219.3_Missense_Mutation_p.P1918L|NCOR2_ENST00000404121.2_Missense_Mutation_p.P1472L|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1902L|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1901L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1922					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTGGCAGGTGGGAATGTGGC	0.697																																																	0			12											11.0	15.0	14.0					12																	124821682		1932	4039	5971	123387635	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5732C>T	12.37:g.124821682G>A	ENSP00000384018:p.Pro1911Leu		123387635	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	g	16.10	3.027368	0.54683	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.21361	2.01;2.28;2.01;2.28;2.02;2.27	4.36	4.36	0.52297	.	0.325215	0.25598	U	0.029567	T	0.29976	0.0750	N	0.24115	0.695	0.39660	D	0.970597	D;D;P	0.69078	0.997;0.96;0.932	P;P;P	0.60789	0.879;0.737;0.573	T	0.18524	-1.0334	10	0.52906	T	0.07	-11.2733	16.894	0.86095	0.0:0.0:1.0:0.0	.	1902;1911;1922	C9J239;C9JFD3;Q9Y618	.;.;NCOR2_HUMAN	L	1911;1901;1918;1902;1910;1472;1901	ENSP00000384018:P1911L;ENSP00000384202:P1901L;ENSP00000348551:P1918L;ENSP00000380513:P1902L;ENSP00000385618:P1472L;ENSP00000400281:P1901L	ENSP00000348551:P1918L	P	-	2	0	NCOR2	123387635	.	.	0.984000	0.44739	0.903000	0.53119	.	.	1.958000	0.56883	0.556000	0.70494	CCA		0.697	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
TJP1	7082	hgsc.bcm.edu	37	15	30010973	30010973	+	Missense_Mutation	SNP	C	C	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr15:30010973C>G	ENST00000346128.6	-	21	3847	c.3373G>C	c.(3373-3375)Gaa>Caa	p.E1125Q	TJP1_ENST00000545208.2_Missense_Mutation_p.E1045Q|TJP1_ENST00000356107.6_Missense_Mutation_p.E1125Q|TJP1_ENST00000400011.2_Missense_Mutation_p.E1049Q	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1125					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TACCCTCGTTCTGAGGACTCT	0.527																																					Melanoma(77;681 1843 6309 6570)												0			15											183.0	182.0	182.0					15																	30010973		2080	4205	6285	27798265	SO:0001583	missense	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.3373G>C	15.37:g.30010973C>G	ENSP00000281537:p.Glu1125Gln		27798265	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046205	0.93740	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.08634	3.07;3.07	6.06	6.06	0.98353	.	0.045285	0.85682	D	0.000000	T	0.22003	0.0530	M	0.61703	1.905	0.80722	D	1	P;P;P;P	0.51791	0.944;0.948;0.944;0.933	P;P;P;P	0.53185	0.528;0.72;0.663;0.623	T	0.00023	-1.2329	10	0.35671	T	0.21	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	1118;1045;1125;1049	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	Q	1125;1049;1125;1045;1045	ENSP00000281537:E1125Q;ENSP00000382890:E1049Q	ENSP00000281537:E1125Q	E	-	1	0	TJP1	27798265	1.000000	0.71417	0.987000	0.45799	0.960000	0.62799	5.235000	0.65348	2.871000	0.98454	0.655000	0.94253	GAA		0.527	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
TRIM69	140691	hgsc.bcm.edu	37	15	45047513	45047513	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr15:45047513G>A	ENST00000559390.1	+	3	1350	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000329464.4_Missense_Mutation_p.R141Q|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000560442.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	141	Necessary for nuclear localization. {ECO:0000250}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AAGGATGCTCGGTTGTCTGTG	0.493																																					Pancreas(84;519 1450 1802 20427 34706)												0			15											72.0	67.0	69.0					15																	45047513		2198	4298	6496	42834805	SO:0001583	missense	140691			AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.422G>A	15.37:g.45047513G>A	ENSP00000453177:p.Arg141Gln		42834805	A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	37	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684451	0.47991	.	.	ENSG00000185880	ENST00000329464	T	0.37058	1.22	5.32	4.39	0.52855	.	0.165039	0.32204	N	0.006427	T	0.15652	0.0377	N	0.25380	0.74	0.29866	N	0.827226	P	0.41313	0.745	B	0.26202	0.067	T	0.08827	-1.0703	10	0.10111	T	0.7	.	7.461	0.27296	0.18:0.0:0.82:0.0	.	141	Q86WT6	TRI69_HUMAN	Q	141	ENSP00000332284:R141Q	ENSP00000332284:R141Q	R	+	2	0	TRIM69	42834805	0.799000	0.28903	0.992000	0.48379	0.964000	0.63967	2.446000	0.44908	2.648000	0.89879	0.563000	0.77884	CGG		0.493	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1		
EFTUD1	79631	hgsc.bcm.edu	37	15	82443978	82443978	+	Silent	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr15:82443978C>T	ENST00000268206.7	-	18	2985	c.2817G>A	c.(2815-2817)gaG>gaA	p.E939E	EFTUD1_ENST00000359445.3_Silent_p.E888E	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	939					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						ATGTCCTCTTCTCAAAGGCCT	0.473																																																	0			15											140.0	141.0	141.0					15																	82443978		2003	4177	6180	80231033	SO:0001819	synonymous_variant	79631			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.2817G>A	15.37:g.82443978C>T			80231033	A6NKY5|B7Z6I0|Q9H8Z6	Silent	SNP	ENST00000268206.7	37	CCDS42071.1																																																																																				0.473	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580	
TM2D3	80213	hgsc.bcm.edu	37	15	102191956	102191956	+	Missense_Mutation	SNP	G	G	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr15:102191956G>C	ENST00000333202.3	-	2	117	c.112C>G	c.(112-114)Cag>Gag	p.Q38E	TM2D3_ENST00000561373.1_5'Flank|TM2D3_ENST00000559107.1_Missense_Mutation_p.Q38E|TARSL2_ENST00000559492.1_5'Flank|TM2D3_ENST00000347970.3_Intron|TM2D3_ENST00000428002.2_Intron	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	38						integral component of membrane (GO:0016021)		p.Q38*(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTATTGACTGAGCCAGCGCC	0.448																																																	1	Substitution - Nonsense(1)	lung(1)	15											150.0	156.0	154.0					15																	102191956		2203	4300	6503	100009479	SO:0001583	missense	80213			AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.112C>G	15.37:g.102191956G>C	ENSP00000330433:p.Gln38Glu		100009479	B2RDK9|Q9H046|Q9H651	Missense_Mutation	SNP	ENST00000333202.3	37	CCDS10393.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420067	0.25552	.	.	ENSG00000184277	ENST00000333202	T	0.76839	-1.05	4.58	3.66	0.41972	.	0.571542	0.17637	N	0.167178	T	0.63260	0.2496	L	0.47716	1.5	0.33182	D	0.549674	B;B	0.31817	0.341;0.118	B;B	0.26770	0.058;0.073	T	0.61907	-0.6966	10	0.02654	T	1	-7.1736	9.2398	0.37489	0.1036:0.0:0.8964:0.0	.	38;38	B4DKG4;Q9BRN9	.;TM2D3_HUMAN	E	38	ENSP00000330433:Q38E	ENSP00000330433:Q38E	Q	-	1	0	TM2D3	100009479	0.706000	0.27856	0.065000	0.19835	0.419000	0.31324	1.265000	0.33027	1.248000	0.43934	-0.262000	0.10625	CAG		0.448	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	NM_078474	
MAGEB2	4113	hgsc.bcm.edu	37	X	30237394	30237394	+	Missense_Mutation	SNP	T	T	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chrX:30237394T>G	ENST00000378988.4	+	2	798	c.697T>G	c.(697-699)Tat>Gat	p.Y233D		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	233	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GTTGGGAGTCTATGATGGAGA	0.488																																																	0			X											70.0	63.0	66.0					X																	30237394		2202	4300	6502	30147315	SO:0001583	missense	4113			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.697T>G	X.37:g.30237394T>G	ENSP00000368273:p.Tyr233Asp		30147315	O75860	Missense_Mutation	SNP	ENST00000378988.4	37	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544357	0.45280	.	.	ENSG00000099399	ENST00000378988	T	0.04809	3.55	3.27	2.1	0.27182	.	0.382609	0.24321	N	0.039550	T	0.16428	0.0395	M	0.82132	2.575	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.04320	-1.0960	10	0.66056	D	0.02	.	4.4278	0.11513	0.0:0.1567:0.0:0.8433	.	233	O15479	MAGB2_HUMAN	D	233	ENSP00000368273:Y233D	ENSP00000368273:Y233D	Y	+	1	0	MAGEB2	30147315	0.100000	0.21855	0.031000	0.17742	0.418000	0.31294	0.620000	0.24403	0.498000	0.27948	0.356000	0.21956	TAT		0.488	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364	
PRRG1	5638	hgsc.bcm.edu	37	X	37312395	37312395	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chrX:37312395T>C	ENST00000542554.1	+	5	450	c.178T>C	c.(178-180)Ttt>Ctt	p.F60L	PRRG1_ENST00000378628.4_Missense_Mutation_p.F60L|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Missense_Mutation_p.F60L|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000543642.1_Missense_Mutation_p.F60L	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	60	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.		F -> I (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.F60I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TCAGAAGGAGTTTTGGAGCAC	0.358																																																	1	Substitution - Missense(1)	breast(1)	X											86.0	63.0	70.0					X																	37312395		2202	4300	6502	37197316	SO:0001583	missense	5638			AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.178T>C	X.37:g.37312395T>C	ENSP00000444278:p.Phe60Leu		37197316	B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	ENST00000542554.1	37	CCDS14239.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.120047	0.77323	.	.	ENSG00000130962	ENST00000378628;ENST00000466533;ENST00000542554;ENST00000543642;ENST00000484460;ENST00000449135	D;D;D;D;D;D	0.99563	-6.17;-6.17;-6.17;-6.17;-6.17;-6.17	5.93	5.93	0.95920	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.000000	0.85682	D	0.000000	D	0.99658	0.9873	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97650	1.0154	10	0.87932	D	0	-11.8778	14.0516	0.64739	0.0:0.0:0.0:1.0	.	60	O14668	TMG1_HUMAN	L	60	ENSP00000367894:F60L;ENSP00000418384:F60L;ENSP00000444278:F60L;ENSP00000443271:F60L;ENSP00000420353:F60L;ENSP00000390332:F60L	ENSP00000367894:F60L	F	+	1	0	PRRG1	37197316	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.994000	0.63901	2.000000	0.58554	0.425000	0.28330	TTT		0.358	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950	
AKAP4	8852	hgsc.bcm.edu	37	X	49957693	49957693	+	Silent	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chrX:49957693G>A	ENST00000376056.2	-	5	1794	c.1644C>T	c.(1642-1644)acC>acT	p.T548T	AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Silent_p.T557T|AKAP4_ENST00000376064.3_Silent_p.T548T|AKAP4_ENST00000481402.1_5'UTR					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TAGTCTGCTGGGTCAGATGGT	0.468																																																	0			X											149.0	117.0	128.0					X																	49957693		2203	4300	6503	49844433	SO:0001819	synonymous_variant	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1644C>T	X.37:g.49957693G>A			49844433		Silent	SNP	ENST00000376056.2	37	CCDS14330.1																																																																																				0.468	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886	
WNK3	65267	hgsc.bcm.edu	37	X	54259358	54259358	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chrX:54259358T>C	ENST00000375159.2	-	20	4723	c.4724A>G	c.(4723-4725)cAa>cGa	p.Q1575R	WNK3_ENST00000354646.2_Missense_Mutation_p.Q1575R|WNK3_ENST00000375169.3_Missense_Mutation_p.Q1528R			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1575					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTCAGTAGATTGGGTTTTGCT	0.468																																																	0			X											161.0	144.0	149.0					X																	54259358		2203	4300	6503	54276083	SO:0001583	missense	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4724A>G	X.37:g.54259358T>C	ENSP00000364301:p.Gln1575Arg		54276083	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	T	8.980	0.975101	0.18736	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.69806	-0.4;-0.43;-0.43	5.69	4.49	0.54785	.	0.261727	0.26170	N	0.025932	T	0.52613	0.1745	L	0.36672	1.1	0.18873	N	0.999985	P;B	0.35272	0.493;0.361	B;B	0.30495	0.116;0.054	T	0.41787	-0.9489	10	0.39692	T	0.17	-1.5687	10.206	0.43114	0.1512:0.0:0.0:0.8488	.	1528;1575	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	R	1528;1575;1575	ENSP00000364312:Q1528R;ENSP00000346667:Q1575R;ENSP00000364301:Q1575R	ENSP00000346667:Q1575R	Q	-	2	0	WNK3	54276083	0.155000	0.22806	0.002000	0.10522	0.644000	0.38419	1.834000	0.39171	0.730000	0.32425	0.481000	0.45027	CAA		0.468	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	
ASB12	142689	hgsc.bcm.edu	37	X	63445158	63445158	+	Missense_Mutation	SNP	G	G	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chrX:63445158G>C	ENST00000396130.2	-	1	345	c.346C>G	c.(346-348)Ctt>Gtt	p.L116V	MTMR8_ENST00000453546.1_Missense_Mutation_p.L500V|ASB12_ENST00000362002.2_Missense_Mutation_p.L125V			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	116					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						GCTTCCAAAAGCACACGTACA	0.542																																																	2	Whole gene deletion(2)	ovary(1)|large_intestine(1)	X											108.0	64.0	79.0					X																	63445158		2203	4300	6503	63361883	SO:0001583	missense	142689			AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.346C>G	X.37:g.63445158G>C	ENSP00000379435:p.Leu116Val		63361883	J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37		.	.	.	.	.	.	.	.	.	.	G	17.01	3.278346	0.59758	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.80480	-1.38;-1.38;-1.38	4.0	3.13	0.36017	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.92159	0.7514	H	0.97415	4	0.25038	N	0.991222	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.995	D	0.84142	0.0418	10	0.87932	D	0	-6.509	10.2576	0.43408	0.1101:0.0:0.8899:0.0	.	500;116	B4DQL0;Q8WXK4	.;ASB12_HUMAN	V	125;116;125;500	ENSP00000355195:L125V;ENSP00000379435:L116V;ENSP00000394003:L500V	ENSP00000354626:L125V	L	-	1	0	ASB12;MTMR8	63361883	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.784000	0.68990	1.986000	0.57962	0.468000	0.43344	CTT		0.542	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
PCDH19	57526	hgsc.bcm.edu	37	X	99662056	99662056	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chrX:99662056C>T	ENST00000373034.4	-	1	3215	c.1540G>A	c.(1540-1542)Gac>Aac	p.D514N	PCDH19_ENST00000420881.2_Missense_Mutation_p.D514N|PCDH19_ENST00000255531.7_Missense_Mutation_p.D514N	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	514	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCGTAGATGTCGCCTGAGTTG	0.587																																																	0			X											101.0	101.0	101.0					X																	99662056		2171	4259	6430	99548712	SO:0001583	missense	57575			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1540G>A	X.37:g.99662056C>T	ENSP00000362125:p.Asp514Asn		99548712	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330317	0.24167	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.54279	0.58;0.58;0.58	5.81	5.81	0.92471	Cadherin (5);Cadherin-like (1);	0.235347	0.43260	D	0.000583	T	0.45955	0.1368	N	0.12961	0.28	0.47511	D	0.999442	D;P;P	0.55800	0.973;0.928;0.942	P;B;P	0.49597	0.616;0.348;0.479	T	0.33904	-0.9850	10	0.17832	T	0.49	.	18.9952	0.92810	0.0:1.0:0.0:0.0	.	514;514;514	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	N	514	ENSP00000400327:D514N;ENSP00000362125:D514N;ENSP00000255531:D514N	ENSP00000255531:D514N	D	-	1	0	PCDH19	99548712	1.000000	0.71417	0.768000	0.31515	0.715000	0.41141	4.989000	0.63870	2.434000	0.82447	0.513000	0.50165	GAC		0.587	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
COL4A6	1288	hgsc.bcm.edu	37	X	107402853	107402853	+	Missense_Mutation	SNP	G	G	T	rs201417622		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chrX:107402853G>T	ENST00000372216.4	-	44	4754	c.4654C>A	c.(4654-4656)Ccc>Acc	p.P1552T	COL4A6_ENST00000545689.1_Missense_Mutation_p.P1527T|COL4A6_ENST00000418180.1_Missense_Mutation_p.P86T|COL4A6_ENST00000394872.2_Missense_Mutation_p.P1552T|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1551T|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1494T	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1552	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	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(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGCATCATGGGGATAGGGGCG	0.562									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0			X											135.0	115.0	122.0					X																	107402853		2203	4300	6503	107289509	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4654C>A	X.37:g.107402853G>T	ENSP00000361290:p.Pro1552Thr		107289509	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457806	0.63401	.	.	ENSG00000197565	ENST00000418180;ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38;-3.38	5.06	5.06	0.68205	C-type lectin fold (1);	0.000000	0.42053	D	0.000777	D	0.96821	0.8962	M	0.83692	2.655	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.999;1.0;0.998	D	0.96573	0.9424	10	0.45353	T	0.12	.	18.2367	0.89951	0.0:0.0:1.0:0.0	.	1527;86;1494;1552;1551	F5H851;B4DZ39;F5H3Q5;Q14031;Q14031-2	.;.;.;CO4A6_HUMAN;.	T	86;1552;1551;1552;1539;1527;1494	ENSP00000406002:P86T;ENSP00000361290:P1552T;ENSP00000334733:P1551T;ENSP00000378340:P1552T;ENSP00000443707:P1527T;ENSP00000445236:P1494T	ENSP00000334733:P1551T	P	-	1	0	COL4A6	107289509	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.766000	0.98957	2.440000	0.82611	0.529000	0.55759	CCC		0.562	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
IGSF1	3547	hgsc.bcm.edu	37	X	130408647	130408647	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chrX:130408647C>A	ENST00000361420.3	-	18	3756	c.3677G>T	c.(3676-3678)tGc>tTc	p.C1226F	IGSF1_ENST00000370910.1_Missense_Mutation_p.C1217F|IGSF1_ENST00000370904.1_Missense_Mutation_p.C1217F|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Missense_Mutation_p.C1231F			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1226	Ig-like C2-type 12.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCGGTAGCTGCAGCTGTAGTT	0.512																																																	0			X											188.0	173.0	178.0					X																	130408647		2203	4300	6503	130236328	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3677G>T	X.37:g.130408647C>A	ENSP00000355010:p.Cys1226Phe		130236328	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208944	0.58343	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.62	5.62	0.85841	Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000044	D	0.83571	0.5283	H	0.96916	3.905	0.43069	D	0.994701	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.97110	0.999;1.0;0.996	D	0.88860	0.3325	10	0.87932	D	0	.	14.1406	0.65318	0.0:1.0:0.0:0.0	.	1217;670;1226	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	F	1217;1226;1217;1231	ENSP00000359947:C1217F;ENSP00000355010:C1226F;ENSP00000359941:C1217F;ENSP00000359940:C1231F	ENSP00000355010:C1226F	C	-	2	0	IGSF1	130236328	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.949000	0.56668	2.501000	0.84356	0.594000	0.82650	TGC		0.512	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
F8	2157	hgsc.bcm.edu	37	X	154159623	154159623	+	Silent	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chrX:154159623T>C	ENST00000360256.4	-	14	2642	c.2442A>G	c.(2440-2442)cgA>cgG	p.R814R		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	814	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TAGGACTCTGTCGCAAGAGCA	0.413																																																	0			X											210.0	192.0	198.0					X																	154159623		2203	4299	6502	153812817	SO:0001819	synonymous_variant	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2442A>G	X.37:g.154159623T>C			153812817	Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
CCKAR	886	hgsc.bcm.edu	37	4	26483598	26483598	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr4:26483598C>T	ENST00000295589.3	-	5	1143	c.949G>A	c.(949-951)Gtc>Atc	p.V317I		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	317					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ACCACGATGACGATGAGCATG	0.637																																																	0			4											135.0	116.0	123.0					4																	26483598		2203	4300	6503	26092696	SO:0001583	missense	886			L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.949G>A	4.37:g.26483598C>T	ENSP00000295589:p.Val317Ile		26092696	B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887200	0.91814	.	.	ENSG00000163394	ENST00000295589	T	0.39056	1.1	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49949	0.1587	L	0.35593	1.075	0.49130	D	0.99975	D	0.76494	0.999	D	0.67900	0.954	T	0.31280	-0.9949	10	0.07813	T	0.8	.	18.622	0.91324	0.0:1.0:0.0:0.0	.	317	P32238	CCKAR_HUMAN	I	317	ENSP00000295589:V317I	ENSP00000295589:V317I	V	-	1	0	CCKAR	26092696	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	6.085000	0.71343	2.404000	0.81709	0.462000	0.41574	GTC		0.637	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2		
AASDH	132949	hgsc.bcm.edu	37	4	57215996	57215996	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr4:57215996T>C	ENST00000205214.6	-	11	2101	c.1921A>G	c.(1921-1923)Agt>Ggt	p.S641G	AASDH_ENST00000513376.1_Missense_Mutation_p.S541G|AASDH_ENST00000502617.1_Missense_Mutation_p.S641G|AASDH_ENST00000451613.1_Missense_Mutation_p.S641G|AASDH_ENST00000434343.2_Missense_Mutation_p.S156G|AASDH_ENST00000602986.1_Missense_Mutation_p.S488G	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	641					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.S641G(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GTGGCACAACTCTTCCTGAAT	0.403																																																	1	Substitution - Missense(1)	lung(1)	4											190.0	163.0	172.0					4																	57215996		2203	4300	6503	56910753	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1921A>G	4.37:g.57215996T>C	ENSP00000205214:p.Ser641Gly		56910753	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	T	10.01	1.233405	0.22626	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	6.06	2.02	0.26589	.	0.805159	0.12194	N	0.490902	T	0.07999	0.0200	N	0.24115	0.695	0.09310	N	1	P;B;B;B	0.38078	0.617;0.383;0.383;0.049	B;B;B;B	0.36719	0.121;0.115;0.231;0.016	T	0.32877	-0.9890	10	0.18710	T	0.47	-2.6864	6.3835	0.21548	0.0:0.1395:0.2467:0.6138	.	488;641;641;641	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	G	641;541;156;641;488;641	ENSP00000205214:S641G;ENSP00000423760:S541G;ENSP00000392158:S156G;ENSP00000409656:S641G;ENSP00000421171:S641G	ENSP00000205214:S641G	S	-	1	0	AASDH	56910753	0.005000	0.15991	0.027000	0.17364	0.822000	0.46500	1.251000	0.32862	0.493000	0.27837	0.533000	0.62120	AGT		0.403	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806	
UGT2A3	79799	hgsc.bcm.edu	37	4	69817093	69817093	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr4:69817093A>G	ENST00000251566.4	-	1	416	c.386T>C	c.(385-387)aTc>aCc	p.I129T	UGT2A3_ENST00000420231.2_5'Flank	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	129					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTGATTGTAGATAAAGCTCTC	0.373																																																	0			4											63.0	65.0	64.0					4																	69817093		2203	4300	6503	69851682	SO:0001583	missense	79799				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.386T>C	4.37:g.69817093A>G	ENSP00000251566:p.Ile129Thr		69851682	Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.284671	0.59867	.	.	ENSG00000135220	ENST00000251566	T	0.61980	0.06	4.74	4.74	0.60224	.	0.351072	0.25587	N	0.029647	T	0.57110	0.2031	L	0.32530	0.975	0.80722	D	1	P	0.37688	0.605	B	0.43445	0.42	T	0.62803	-0.6777	10	0.87932	D	0	.	12.2413	0.54544	1.0:0.0:0.0:0.0	.	129	Q6UWM9	UD2A3_HUMAN	T	129	ENSP00000251566:I129T	ENSP00000251566:I129T	I	-	2	0	UGT2A3	69851682	0.107000	0.21998	0.003000	0.11579	0.566000	0.35808	5.132000	0.64758	1.996000	0.58369	0.482000	0.46254	ATC		0.373	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	
FRAS1	80144	hgsc.bcm.edu	37	4	79400650	79400650	+	Missense_Mutation	SNP	C	C	T	rs184784250		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr4:79400650C>T	ENST00000264895.6	+	56	8661	c.8221C>T	c.(8221-8223)Cgt>Tgt	p.R2741C		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2737	Calx-beta 2.				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						TGCCGCGAGTCGTGTGATATT	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		21541	0.0		0.001	False		,,,				2504	0.0																0			4											99.0	98.0	99.0					4																	79400650		2101	4221	6322	79619674	SO:0001583	missense	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.8221C>T	4.37:g.79400650C>T	ENSP00000264895:p.Arg2741Cys		79619674	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	15.02|15.02	2.709791|2.709791	0.48517|0.48517	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|T	0.27557|0.27557	1.66|1.66	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.056303|.	0.64402|.	D|.	0.000001|.	T|T	0.60650|0.60650	0.2285|0.2285	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72075|.	0.976|.	T|T	0.62760|0.62760	-0.6786|-0.6786	10|7	0.59425|0.62326	D|D	0.04|0.03	.|.	20.308|20.308	0.98638|0.98638	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2741|.	E9PHH6|.	.|.	C|L	2741|969	ENSP00000264895:R2741C|ENSP00000422834:S969L	ENSP00000264895:R2741C|ENSP00000422834:S969L	R|S	+|+	1|2	0|0	FRAS1|FRAS1	79619674|79619674	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.016000|0.016000	0.09150|0.09150	5.499000|5.499000	0.66937|0.66937	2.875000|2.875000	0.98604|0.98604	0.644000|0.644000	0.83932|0.83932	CGT|TCG		0.473	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
NKX6-1	4825	hgsc.bcm.edu	37	4	85418774	85418774	+	Missense_Mutation	SNP	A	A	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr4:85418774A>C	ENST00000295886.4	-	1	829	c.608T>G	c.(607-609)aTc>aGc	p.I203S	NKX6-1_ENST00000515820.2_5'Flank	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	203	Repressor domain. {ECO:0000250}.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|cellular response to peptide hormone stimulus (GO:0071375)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|organ morphogenesis (GO:0009887)|pancreas development (GO:0031016)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of insulin secretion (GO:0032024)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of axon extension (GO:0030516)|regulation of neuron migration (GO:2001222)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to drug (GO:0042493)|response to nicotine (GO:0035094)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		GGGCCAGAAGATGGGCGTCCG	0.751																																																	0			4											8.0	9.0	9.0					4																	85418774		2003	3987	5990	85637798	SO:0001583	missense	4825			AH007313	CCDS3607.1	4q21.33	2012-03-09	2007-07-09	2002-10-04	ENSG00000163623	ENSG00000163623		"""Homeoboxes / ANTP class : NKL subclass"""	7839	protein-coding gene	gene with protein product		602563	"""NK homeobox (Drosophila), family 6, A"", ""NK6 transcription factor related, locus 1 (Drosophila)"""	NKX6A		9119408	Standard	NM_006168		Approved	Nkx6.1	uc003hpa.1	P78426	OTTHUMG00000130426	ENST00000295886.4:c.608T>G	4.37:g.85418774A>C	ENSP00000295886:p.Ile203Ser		85637798		Missense_Mutation	SNP	ENST00000295886.4	37	CCDS3607.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234315	0.58886	.	.	ENSG00000163623	ENST00000295886	D	0.90844	-2.74	3.86	3.86	0.44501	.	0.000000	0.64402	D	0.000001	D	0.89763	0.6809	L	0.49126	1.545	0.80722	D	1	D	0.65815	0.995	P	0.53185	0.72	D	0.86662	0.1905	10	0.17832	T	0.49	-12.6967	11.7815	0.52018	1.0:0.0:0.0:0.0	.	203	P78426	NKX61_HUMAN	S	203	ENSP00000295886:I203S	ENSP00000295886:I203S	I	-	2	0	NKX6-1	85637798	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.233000	0.72320	1.624000	0.50355	0.397000	0.26171	ATC		0.751	NKX6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252814.2	NM_006168	
ZGRF1	55345	hgsc.bcm.edu	37	4	113462250	113462250	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr4:113462250G>A	ENST00000505019.1	-	25	5898	c.5773C>T	c.(5773-5775)Cag>Tag	p.Q1925*	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1925						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCATTTACCTGTTCTAGTCCT	0.363																																																	0			4											41.0	42.0	42.0					4																	113462250		2203	4298	6501	113681699	SO:0001587	stop_gained	55345																														ENST00000505019.1:c.5773C>T	4.37:g.113462250G>A	ENSP00000424737:p.Gln1925*		113681699	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Nonsense_Mutation	SNP	ENST00000505019.1	37		.	.	.	.	.	.	.	.	.	.	G	46	12.616402	0.99682	.	.	ENSG00000138658	ENST00000505019	.	.	.	5.78	5.78	0.91487	.	0.078653	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-15.3936	20.0137	0.97470	0.0:0.0:1.0:0.0	.	.	.	.	X	1925	.	ENSP00000424737:Q1925X	Q	-	1	0	C4orf21	113681699	1.000000	0.71417	0.968000	0.41197	0.947000	0.59692	6.716000	0.74702	2.734000	0.93682	0.563000	0.77884	CAG		0.363	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1		
FBXW7	55294	hgsc.bcm.edu	37	4	153247363	153247363	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr4:153247363T>C	ENST00000281708.4	-	10	2668	c.1439A>G	c.(1438-1440)gAt>gGt	p.D480G	FBXW7_ENST00000603548.1_Missense_Mutation_p.D480G|FBXW7_ENST00000393956.3_Missense_Mutation_p.D304G|FBXW7_ENST00000603841.1_Missense_Mutation_p.D480G|FBXW7_ENST00000263981.5_Missense_Mutation_p.D400G|FBXW7_ENST00000296555.5_Missense_Mutation_p.D362G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	480					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AAGAGTGGCATCTCGAGAACC	0.408			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	4											93.0	87.0	89.0					4																	153247363		2203	4299	6502	153466813	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1439A>G	4.37:g.153247363T>C	ENSP00000281708:p.Asp480Gly		153466813	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.775990	0.90195	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96531	0.8868	H	0.96970	3.915	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97877	1.0289	10	0.87932	D	0	-23.0277	16.2962	0.82776	0.0:0.0:0.0:1.0	.	304;480;362;400	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	480;362;400;304	ENSP00000281708:D480G;ENSP00000296555:D362G;ENSP00000263981:D400G;ENSP00000377528:D304G	ENSP00000263981:D400G	D	-	2	0	FBXW7	153466813	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.934000	0.87649	2.304000	0.77564	0.528000	0.53228	GAT		0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
ADAM17	6868	hgsc.bcm.edu	37	2	9633048	9633048	+	Silent	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr2:9633048G>A	ENST00000310823.3	-	17	2243	c.2061C>T	c.(2059-2061)ttC>ttT	p.F687F	IAH1_ENST00000545602.1_Intron	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	687					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CAAGAATGCTGAAAGGAATCC	0.343																																																	0			2											115.0	103.0	107.0					2																	9633048		2203	4300	6503	9550499	SO:0001819	synonymous_variant	6868			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.2061C>T	2.37:g.9633048G>A			9550499	O60226	Silent	SNP	ENST00000310823.3	37	CCDS1665.1																																																																																				0.343	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1		
RBKS	64080	hgsc.bcm.edu	37	2	28050540	28050540	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr2:28050540T>C	ENST00000302188.3	-	7	1441	c.689A>G	c.(688-690)cAg>cGg	p.Q230R	RBKS_ENST00000444339.2_Missense_Mutation_p.Q230R	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	230					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					GATTACCACCTGGCAGCCCCT	0.517																																																	0			2											102.0	93.0	96.0					2																	28050540		2203	4300	6503	27904044	SO:0001583	missense	64080			BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.689A>G	2.37:g.28050540T>C	ENSP00000306817:p.Gln230Arg		27904044	A9UK04|B4DV96	Missense_Mutation	SNP	ENST00000302188.3	37	CCDS1762.1	.	.	.	.	.	.	.	.	.	.	T	11.80	1.746891	0.30955	.	.	ENSG00000171174	ENST00000302188;ENST00000444339	T;T	0.75589	-0.95;-0.95	5.63	0.73	0.18271	Carbohydrate/purine kinase (1);	0.756003	0.13642	N	0.372884	T	0.51346	0.1669	N	0.08118	0	0.23150	N	0.998218	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.37753	-0.9692	10	0.36615	T	0.2	1.1854	9.0212	0.36202	0.0:0.2809:0.0:0.7191	.	230;230	B4DV96;Q9H477	.;RBSK_HUMAN	R	230	ENSP00000306817:Q230R;ENSP00000413232:Q230R	ENSP00000306817:Q230R	Q	-	2	0	RBKS	27904044	0.381000	0.25140	0.656000	0.29637	0.979000	0.70002	0.604000	0.24164	0.108000	0.17862	0.402000	0.26972	CAG		0.517	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	NM_022128	
WDR54	84058	hgsc.bcm.edu	37	2	74653570	74653570	+	IGR	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr2:74653570G>A	ENST00000348227.4	+	0	1147				RTKN_ENST00000305557.5_Missense_Mutation_p.P485S|RTKN_ENST00000233330.6_Missense_Mutation_p.P448S|RTKN_ENST00000272430.5_Missense_Mutation_p.P498S	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						ACTGAGGCAGGCGAGCAGGGG	0.672																																																	0			2											22.0	27.0	26.0					2																	74653570		2188	4271	6459	74507078	SO:0001628	intergenic_variant	6242			AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74653570G>A			74507078	D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	G	8.234	0.805365	0.16467	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.28895	1.59;1.59;1.61	5.17	1.24	0.21308	.	0.130371	0.52532	D	0.000077	T	0.14313	0.0346	N	0.17082	0.46	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.21724	-1.0237	10	0.19590	T	0.45	.	5.8782	0.18840	0.175:0.3279:0.4971:0.0	.	498;485	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	S	485;498;448	ENSP00000305298:P485S;ENSP00000272430:P498S;ENSP00000233330:P448S	ENSP00000233330:P448S	P	-	1	0	RTKN	74507078	0.573000	0.26676	0.412000	0.26496	0.954000	0.61252	0.677000	0.25262	0.331000	0.23511	-0.257000	0.10917	CCT		0.672	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118	
RANBP2	5903	hgsc.bcm.edu	37	2	109368375	109368375	+	Silent	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr2:109368375C>T	ENST00000283195.6	+	12	1806	c.1680C>T	c.(1678-1680)aaC>aaT	p.N560N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	560					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATGAAATAAACACTCTAAGAG	0.368																																																	0			2											110.0	133.0	125.0					2																	109368375		1508	2709	4217	108734807	SO:0001819	synonymous_variant	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1680C>T	2.37:g.109368375C>T			108734807	Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	CCDS2079.1																																																																																				0.368	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
LRP1B	53353	hgsc.bcm.edu	37	2	141267507	141267507	+	Silent	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr2:141267507T>C	ENST00000389484.3	-	52	9359	c.8388A>G	c.(8386-8388)acA>acG	p.T2796T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2796	LDL-receptor class A 17. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGCAGCCTGCTGTGGAAAGCT	0.507										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0			2											130.0	112.0	118.0					2																	141267507		2203	4300	6503	140983977	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8388A>G	2.37:g.141267507T>C			140983977	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.507	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
ASNSD1	54529	hgsc.bcm.edu	37	2	190532026	190532026	+	Missense_Mutation	SNP	G	G	T	rs140770284		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr2:190532026G>T	ENST00000260952.4	+	4	1581	c.1168G>T	c.(1168-1170)Gct>Tct	p.A390S	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	390	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TAAAGATGTTGCTGCTGCTGC	0.423																																																	0			2											48.0	46.0	47.0					2																	190532026		2203	4300	6503	190240271	SO:0001583	missense	54529			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1168G>T	2.37:g.190532026G>T	ENSP00000260952:p.Ala390Ser		190240271	D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	G	1.030	-0.682182	0.03353	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.41400	1.0;1.0	5.13	0.361	0.16107	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.697413	0.14112	N	0.340663	T	0.36386	0.0965	M	0.63428	1.95	0.09310	N	1	B	0.31125	0.309	B	0.31946	0.138	T	0.27297	-1.0078	10	0.16420	T	0.52	-1.5679	10.5187	0.44905	0.3441:0.0:0.6559:0.0	.	390	Q9NWL6	ASND1_HUMAN	S	390	ENSP00000260952:A390S;ENSP00000406790:A390S	ENSP00000260952:A390S	A	+	1	0	ASNSD1	190240271	0.000000	0.05858	0.003000	0.11579	0.198000	0.23893	0.298000	0.19120	-0.121000	0.11787	0.655000	0.94253	GCT		0.423	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048	
KLF7	8609	hgsc.bcm.edu	37	2	207988559	207988559	+	Silent	SNP	G	G	A	rs201005804		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr2:207988559G>A	ENST00000309446.6	-	2	1048	c.672C>T	c.(670-672)aaC>aaT	p.N224N	KLF7_ENST00000458272.1_Intron|KLF7-IT1_ENST00000428777.1_RNA|KLF7_ENST00000412414.2_Silent_p.N196N|KLF7_ENST00000421199.1_Silent_p.N191N|KLF7_ENST00000423015.1_Intron|KLF7_ENST00000467833.1_Intron	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	224					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		TCCGGCACCCGTTAAACTGAC	0.542													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19533	0.0		0.0	False		,,,				2504	0.0																0			2											84.0	85.0	85.0					2																	207988559		2203	4300	6503	207696804	SO:0001819	synonymous_variant	8609			AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.672C>T	2.37:g.207988559G>A			207696804	B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Silent	SNP	ENST00000309446.6	37	CCDS2373.1																																																																																				0.542	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256466.2	NM_003709	
IDH1	3417	hgsc.bcm.edu	37	2	209103949	209103949	+	Missense_Mutation	SNP	A	A	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr2:209103949A>T	ENST00000415913.1	-	9	1381	c.1000T>A	c.(1000-1002)Ttt>Att	p.F334I	IDH1_ENST00000345146.2_Missense_Mutation_p.F334I|IDH1_ENST00000446179.1_Missense_Mutation_p.F334I	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	334					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GTCCAGGCAAAAATGGAAGCT	0.388			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)			Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	0			2											55.0	54.0	54.0					2																	209103949		2203	4300	6503	208812194	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.1000T>A	2.37:g.209103949A>T	ENSP00000390265:p.Phe334Ile		208812194	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	A	32	5.190759	0.94923	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913	T;T;T	0.68624	-0.34;-0.34;-0.34	5.53	5.53	0.82687	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.89378	0.6698	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93636	0.6960	10	0.87932	D	0	-1.6806	15.9613	0.79933	1.0:0.0:0.0:0.0	.	334	O75874	IDHC_HUMAN	I	334	ENSP00000260985:F334I;ENSP00000410513:F334I;ENSP00000390265:F334I	ENSP00000260985:F334I	F	-	1	0	IDH1	208812194	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.230000	0.95299	2.240000	0.73641	0.477000	0.44152	TTT		0.388	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1		
PTPRN	5798	hgsc.bcm.edu	37	2	220161201	220161201	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr2:220161201G>A	ENST00000295718.2	-	17	2588	c.2348C>T	c.(2347-2349)aCg>aTg	p.T783M	PTPRN_ENST00000497977.1_5'UTR|MIR153-1_ENST00000384914.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.T754M|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.T693M	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	783	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T783M(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CGGGCCCTGCGTGGCTATGTA	0.607																																																	1	Substitution - Missense(1)	large_intestine(1)	2											80.0	74.0	76.0					2																	220161201		2203	4300	6503	219869445	SO:0001583	missense	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2348C>T	2.37:g.220161201G>A	ENSP00000295718:p.Thr783Met		219869445	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615140	0.66672	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	D;D;D	0.88046	-2.33;-2.33;-2.33	4.56	4.56	0.56223	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	D	0.95862	0.8653	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97614	1.0131	10	0.87932	D	0	.	17.3328	0.87271	0.0:0.0:1.0:0.0	.	754;783	Q6NSL1;Q16849	.;PTPRN_HUMAN	M	754;783;754;693	ENSP00000386638:T754M;ENSP00000295718:T783M;ENSP00000444244:T693M	ENSP00000295718:T783M	T	-	2	0	PTPRN	219869445	1.000000	0.71417	0.944000	0.38274	0.526000	0.34562	9.734000	0.98822	2.245000	0.73994	0.655000	0.94253	ACG		0.607	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2		
SGPP2	130367	hgsc.bcm.edu	37	2	223423167	223423167	+	Silent	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr2:223423167C>T	ENST00000321276.7	+	5	836	c.750C>T	c.(748-750)ccC>ccT	p.P250P		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	250					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		CCCTCTTCCCCGTGTGTGTCA	0.582																																																	0			2											149.0	134.0	139.0					2																	223423167		2203	4300	6503	223131411	SO:0001819	synonymous_variant	130367			AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.750C>T	2.37:g.223423167C>T			223131411	A3KPB4|Q8N8Q6	Silent	SNP	ENST00000321276.7	37	CCDS2453.1																																																																																				0.582	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256856.2		
KLHL9	55958	hgsc.bcm.edu	37	9	21333629	21333629	+	Silent	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr9:21333629A>G	ENST00000359039.4	-	1	1750	c.1230T>C	c.(1228-1230)gcT>gcC	p.A410A	KLHL9_ENST00000537938.1_Silent_p.A342A			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	410					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.A410A(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CCAGTTCACCAGCTGCACTGC	0.443																																																	1	Substitution - coding silent(1)	ovary(1)	9											112.0	101.0	105.0					9																	21333629		2203	4300	6503	21323629	SO:0001819	synonymous_variant	55958			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1230T>C	9.37:g.21333629A>G			21323629	Q8TCQ2	Silent	SNP	ENST00000359039.4	37	CCDS6503.1																																																																																				0.443	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847	
VPS13A	23230	hgsc.bcm.edu	37	9	79824434	79824434	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr9:79824434C>A	ENST00000360280.3	+	6	741	c.481C>A	c.(481-483)Cgt>Agt	p.R161S	VPS13A_ENST00000376636.3_Missense_Mutation_p.R161S|VPS13A_ENST00000376634.4_Missense_Mutation_p.R161S|VPS13A_ENST00000357409.5_Missense_Mutation_p.R161S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	161			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATCCATATTCGTTATGAAGA	0.274																																																	0			9											33.0	34.0	33.0					9																	79824434		2200	4291	6491	79014254	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.481C>A	9.37:g.79824434C>A	ENSP00000353422:p.Arg161Ser		79014254	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552299	0.86127	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.67523	-0.13;-0.27;-0.23;-0.13	5.71	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	M	0.91561	3.22	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;1.0	D	0.88380	0.3001	10	0.87932	D	0	.	14.2793	0.66200	0.0:0.9276:0.0:0.0724	.	161;161;161;161	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	S	161	ENSP00000365821:R161S;ENSP00000365823:R161S;ENSP00000353422:R161S;ENSP00000349985:R161S	ENSP00000349985:R161S	R	+	1	0	VPS13A	79014254	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.182000	0.77689	1.417000	0.47077	0.655000	0.94253	CGT		0.274	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
NTRK2	4915	hgsc.bcm.edu	37	9	87563463	87563463	+	Silent	SNP	C	C	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr9:87563463C>G	ENST00000323115.4	+	14	2156	c.1803C>G	c.(1801-1803)gtC>gtG	p.V601V	NTRK2_ENST00000277120.3_Silent_p.V617V|NTRK2_ENST00000376214.1_Silent_p.V617V|NTRK2_ENST00000376213.1_Silent_p.V601V			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	AGCACATCGTCAAGTTCTATG	0.572										TSP Lung(25;0.17)																																							0			9											115.0	84.0	95.0					9																	87563463		2203	4300	6503	86753283	SO:0001819	synonymous_variant	4915			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1803C>G	9.37:g.87563463C>G			86753283	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	CCDS35050.1																																																																																				0.572	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1		
AGTPBP1	23287	hgsc.bcm.edu	37	9	88247986	88247986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr9:88247986G>A	ENST00000357081.3	-	14	1750	c.1606C>T	c.(1606-1608)Cga>Tga	p.R536*	AGTPBP1_ENST00000432218.1_Nonsense_Mutation_p.R374*|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.R496*|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.R548*			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	536					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.R496*(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AATGTAATTCGGTCCAAGGCC	0.383																																																	1	Substitution - Nonsense(1)	large_intestine(1)	9											112.0	109.0	110.0					9																	88247986		2203	4300	6503	87437806	SO:0001587	stop_gained	23287			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1606C>T	9.37:g.88247986G>A	ENSP00000349592:p.Arg536*		87437806	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Nonsense_Mutation	SNP	ENST00000357081.3	37		.	.	.	.	.	.	.	.	.	.	G	39	7.765935	0.98477	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	.	.	.	5.92	2.83	0.33086	.	0.595744	0.17512	N	0.171597	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4962	14.1766	0.65546	0.0:0.0:0.3337:0.6663	.	.	.	.	X	536;496;548;374	.	ENSP00000349592:R536X	R	-	1	2	AGTPBP1	87437806	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.482000	0.35486	0.772000	0.33382	-0.188000	0.12872	CGA		0.383	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239	
ADAMTS13	11093	hgsc.bcm.edu	37	9	136321303	136321303	+	Silent	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr9:136321303C>T	ENST00000371929.3	+	26	4125	c.3681C>T	c.(3679-3681)ctC>ctT	p.L1227L	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.L1140L|ADAMTS13_ENST00000355699.2_Silent_p.L1171L|ADAMTS13_ENST00000371910.1_Silent_p.L23L|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1227	CUB 1.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGGTGACCCTCCGCGTCCTTG	0.637																																																	0			9											65.0	59.0	61.0					9																	136321303		2203	4300	6503	135311124	SO:0001819	synonymous_variant	11093			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.3681C>T	9.37:g.136321303C>T			135311124	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	ENST00000371929.3	37	CCDS6970.1																																																																																				0.637	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025	
SLC7A1	6541	hgsc.bcm.edu	37	13	30104812	30104812	+	Silent	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr13:30104812G>A	ENST00000380752.5	-	5	953	c.567C>T	c.(565-567)gtC>gtT	p.V189V		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	189					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ATATTTTGTTGACCATGGCCG	0.438																																																	0			13											131.0	126.0	128.0					13																	30104812		2203	4300	6503	29002812	SO:0001819	synonymous_variant	6541			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.567C>T	13.37:g.30104812G>A			29002812	Q5JR50	Silent	SNP	ENST00000380752.5	37	CCDS9333.1																																																																																				0.438	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045	
ANKRD10	55608	hgsc.bcm.edu	37	13	111545497	111545497	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr13:111545497T>C	ENST00000267339.2	-	4	703	c.569A>G	c.(568-570)aAc>aGc	p.N190S	ANKRD10_ENST00000375758.5_Silent_p.*221*|ANKRD10_ENST00000489973.2_5'UTR|ANKRD10-IT1_ENST00000426991.1_RNA|ANKRD10_ENST00000310847.4_Silent_p.*221*	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	190								p.N190S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			GATGCCATTGTTATAGAAATG	0.428																																																	1	Substitution - Missense(1)	central_nervous_system(1)	13											127.0	127.0	127.0					13																	111545497		2203	4300	6503	110343498	SO:0001583	missense	55608			AK000100	CCDS9520.1, CCDS66580.1	13q33.3	2013-01-10			ENSG00000088448	ENSG00000088448		"""Ankyrin repeat domain containing"""	20265	protein-coding gene	gene with protein product							Standard	NM_017664		Approved	FLJ20093	uc001vrn.3	Q9NXR5	OTTHUMG00000017349	ENST00000267339.2:c.569A>G	13.37:g.111545497T>C	ENSP00000267339:p.Asn190Ser		110343498	Q5VW12|Q9BV12	Missense_Mutation	SNP	ENST00000267339.2	37	CCDS9520.1	.	.	.	.	.	.	.	.	.	.	T	0.372	-0.933221	0.02359	.	.	ENSG00000088448	ENST00000267339	T	0.52754	0.65	5.67	-5.51	0.02568	Ankyrin repeat-containing domain (1);	0.950216	0.08927	N	0.873485	T	0.19846	0.0477	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27571	-1.0070	10	0.18710	T	0.47	0.0706	7.7453	0.28864	0.0:0.2932:0.4296:0.2772	.	190	Q9NXR5	ANR10_HUMAN	S	190	ENSP00000267339:N190S	ENSP00000267339:N190S	N	-	2	0	ANKRD10	110343498	0.013000	0.17824	0.000000	0.03702	0.656000	0.38851	0.431000	0.21444	-0.480000	0.06803	-0.290000	0.09829	AAC		0.428	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045783.1		
MYO3A	53904	hgsc.bcm.edu	37	10	26385365	26385365	+	Missense_Mutation	SNP	A	A	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr10:26385365A>C	ENST00000265944.5	+	16	1784	c.1618A>C	c.(1618-1620)Aag>Cag	p.K540Q	MYO3A_ENST00000543632.1_Missense_Mutation_p.K540Q	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	540	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGCTGAAAAGAAGAAACTAGC	0.318																																																	0			10											60.0	65.0	63.0					10																	26385365		2201	4300	6501	26425371	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1618A>C	10.37:g.26385365A>C	ENSP00000265944:p.Lys540Gln		26425371	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.034563	0.75617	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;D	0.87256	-0.58;-2.23	5.13	5.13	0.70059	Myosin head, motor domain (2);	0.045499	0.85682	D	0.000000	D	0.90150	0.6922	L	0.38531	1.155	0.52501	D	0.999955	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.87578	0.997;0.998;0.969	D	0.91249	0.5028	10	0.66056	D	0.02	.	15.2533	0.73564	1.0:0.0:0.0:0.0	.	540;540;540	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	Q	540	ENSP00000265944:K540Q;ENSP00000445909:K540Q	ENSP00000265944:K540Q	K	+	1	0	MYO3A	26425371	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.925000	0.70062	2.069000	0.61940	0.533000	0.62120	AAG		0.318	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
EGR2	1959	hgsc.bcm.edu	37	10	64573435	64573435	+	Silent	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr10:64573435C>T	ENST00000242480.3	-	2	1288	c.963G>A	c.(961-963)ctG>ctA	p.L321L	EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000411732.1_Silent_p.L271L|EGR2_ENST00000439032.1_Silent_p.L321L	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	321					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGCGAGGCCTCAGAATGGGCC	0.697																																																	0			10											28.0	32.0	31.0					10																	64573435		2203	4300	6503	64243441	SO:0001819	synonymous_variant	1959			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.963G>A	10.37:g.64573435C>T			64243441	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	37	CCDS7267.1																																																																																				0.697	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399	
LRRTM3	347731	hgsc.bcm.edu	37	10	68687507	68687507	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr10:68687507C>T	ENST00000361320.4	+	2	1411	c.833C>T	c.(832-834)cCg>cTg	p.P278L	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	278					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAGTGTGTCCCGAATCTGCAG	0.478																																																	0			10											115.0	122.0	120.0					10																	68687507		2203	4300	6503	68357513	SO:0001583	missense	347731			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.833C>T	10.37:g.68687507C>T	ENSP00000355187:p.Pro278Leu		68357513	A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491874	0.64074	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.60299	0.2	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000002	T	0.76630	0.4014	M	0.70787	2.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77408	-0.2599	10	0.66056	D	0.02	.	18.8147	0.92072	0.0:1.0:0.0:0.0	.	278;278	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	L	278	ENSP00000355187:P278L	ENSP00000355187:P278L	P	+	2	0	LRRTM3	68357513	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	7.818000	0.86416	2.740000	0.93945	0.650000	0.86243	CCG		0.478	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011	
CFAP70	118491	hgsc.bcm.edu	37	10	75071621	75071621	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr10:75071621G>T	ENST00000310715.3	-	12	1465	c.1345C>A	c.(1345-1347)Ccc>Acc	p.P449T	TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000401621.2_Missense_Mutation_p.P449T|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.P449T	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		449						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTTAGAGGGGGTTCACCTTCC	0.378																																																	0			10											163.0	174.0	170.0					10																	75071621		2203	4300	6503	74741627	SO:0001583	missense	118491																														ENST00000310715.3:c.1345C>A	10.37:g.75071621G>T	ENSP00000310829:p.Pro449Thr		74741627	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	G	7.551	0.662634	0.14645	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000372928;ENST00000394865	D;D;D	0.93019	-3.15;-3.15;-3.15	4.72	-0.591	0.11675	.	1.569510	0.03559	N	0.226755	D	0.85111	0.5622	N	0.10874	0.06	0.09310	N	1	B;B	0.14012	0.009;0.003	B;B	0.12156	0.007;0.002	T	0.74016	-0.3800	10	0.30854	T	0.27	-7.3953	6.9229	0.24399	0.0:0.3475:0.3846:0.2678	.	449;449	Q5T0N1-2;Q5T0N1	.;TTC18_HUMAN	T	449	ENSP00000310829:P449T;ENSP00000384479:P449T;ENSP00000378334:P449T	ENSP00000310829:P449T	P	-	1	0	TTC18	74741627	0.002000	0.14202	0.268000	0.24571	0.619000	0.37552	-0.366000	0.07563	0.013000	0.14918	0.563000	0.77884	CCC		0.378	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
PTEN	5728	hgsc.bcm.edu	37	10	89624303	89624303	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr10:89624303C>T	ENST00000371953.3	+	1	1434	c.77C>T	c.(76-78)aCc>aTc	p.T26I	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	26	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.L25fs*28(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTAGACTTGACCTGTATCCAT	0.458		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	51	Whole gene deletion(37)|Unknown(13)|Deletion - Frameshift(1)	prostate(14)|central_nervous_system(9)|skin(7)|lung(6)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|kidney(1)	10											159.0	151.0	154.0					10																	89624303		2203	4300	6503	89614283	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.77C>T	10.37:g.89624303C>T	ENSP00000361021:p.Thr26Ile		89614283	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699536	0.88830	.	.	ENSG00000171862	ENST00000371953	D	0.98701	-5.08	5.28	5.28	0.74379	Phosphatase tensin type (1);	0.054781	0.64402	D	0.000001	D	0.98346	0.9451	M	0.90650	3.135	0.80722	D	1	B	0.30455	0.28	B	0.30572	0.117	D	0.99433	1.0936	9	.	.	.	-0.0938	17.6706	0.88216	0.0:1.0:0.0:0.0	.	26	P60484	PTEN_HUMAN	I	26	ENSP00000361021:T26I	.	T	+	2	0	PTEN	89614283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.018000	0.76406	2.467000	0.83353	0.561000	0.74099	ACC		0.458	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
BTRC	8945	hgsc.bcm.edu	37	10	103221777	103221777	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr10:103221777C>T	ENST00000370187.3	+	3	314	c.196C>T	c.(196-198)Cct>Tct	p.P66S	BTRC_ENST00000393441.4_Intron|BTRC_ENST00000408038.2_Missense_Mutation_p.P30S	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	66					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P66S(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TGGCGAACCCCCTAGGAAGAT	0.363																																																	1	Substitution - Missense(1)	ovary(1)	10											97.0	103.0	100.0					10																	103221777		2203	4300	6503	103211767	SO:0001583	missense	8945			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.196C>T	10.37:g.103221777C>T	ENSP00000359206:p.Pro66Ser		103211767	B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048038	0.55110	.	.	ENSG00000166167	ENST00000370187;ENST00000408038;ENST00000370183	T;T	0.61274	0.31;0.12	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000005	T	0.65439	0.2691	N	0.19112	0.55	0.80722	D	1	D;D	0.67145	0.996;0.967	D;P	0.75484	0.986;0.901	T	0.63042	-0.6725	10	0.35671	T	0.21	-12.3347	20.5568	0.99304	0.0:1.0:0.0:0.0	.	30;66	Q9Y297-2;Q9Y297	.;FBW1A_HUMAN	S	66;30;48	ENSP00000359206:P66S;ENSP00000385339:P30S	ENSP00000359202:P48S	P	+	1	0	BTRC	103211767	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.664000	0.68045	2.861000	0.98227	0.655000	0.94253	CCT		0.363	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637	
CFAP43	80217	hgsc.bcm.edu	37	10	105944783	105944783	+	Missense_Mutation	SNP	A	A	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr10:105944783A>T	ENST00000278064.2	-	16	2250	c.1925T>A	c.(1924-1926)cTa>cAa	p.L642Q	WDR96_ENST00000357060.3_Missense_Mutation_p.L711Q|WDR96_ENST00000428666.1_Missense_Mutation_p.L712Q																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTTCCACTTTAGGTAGACAAG	0.393																																																	0			10											202.0	175.0	184.0					10																	105944783		2203	4300	6503	105934773	SO:0001583	missense	80217																														ENST00000278064.2:c.1925T>A	10.37:g.105944783A>T	ENSP00000278064:p.Leu642Gln		105934773		Missense_Mutation	SNP	ENST00000278064.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.32|16.32	3.091052|3.091052	0.55968|0.55968	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064|ENST00000434629	T;T;T|.	0.31247|.	1.5;1.5;1.5|.	5.18|5.18	5.18|5.18	0.71444|0.71444	WD40 repeat-like-containing domain (1);|.	0.235524|.	0.28354|.	N|.	0.015652|.	T|.	0.56949|.	0.2020|.	M|M	0.65498|0.65498	2.005|2.005	0.09310|0.09310	N|N	0.999993|0.999993	D;D;D|.	0.89917|.	0.997;1.0;0.999|.	D;D;D|.	0.87578|.	0.932;0.998;0.982|.	T|.	0.51988|.	-0.8635|.	10|.	0.30854|.	T|.	0.27|.	.|.	12.9672|12.9672	0.58492|0.58492	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	712;712;711|.	G5E9L1;B4DHB6;Q8NDM7|.	.;.;WDR96_HUMAN|.	Q|K	711;712;642|72	ENSP00000349568:L711Q;ENSP00000400289:L712Q;ENSP00000278064:L642Q|.	ENSP00000278064:L642Q|.	L|X	-|-	2|1	0|0	WDR96|WDR96	105934773|105934773	0.995000|0.995000	0.38212|0.38212	0.033000|0.033000	0.17914|0.17914	0.871000|0.871000	0.50021|0.50021	5.212000|5.212000	0.65225|0.65225	1.946000|1.946000	0.56461|0.56461	0.533000|0.533000	0.62120|0.62120	CTA|TAA		0.393	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1		
CHST15	51363	hgsc.bcm.edu	37	10	125780811	125780811	+	Silent	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr10:125780811G>A	ENST00000346248.5	-	6	1950	c.1308C>T	c.(1306-1308)cgC>cgT	p.R436R	CHST15_ENST00000435907.1_Silent_p.R436R|CHST15_ENST00000421115.1_Silent_p.R436R	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	436					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						AGACGCAGGCGCGCAGTGAAT	0.537																																																	0			10											72.0	65.0	67.0					10																	125780811		2203	4300	6503	125770801	SO:0001819	synonymous_variant	51363			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1308C>T	10.37:g.125780811G>A			125770801	O60338|O60474|Q86VM4	Silent	SNP	ENST00000346248.5	37	CCDS7638.1																																																																																				0.537	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892	
C5orf49	134121	hgsc.bcm.edu	37	5	7835501	7835501	+	Silent	SNP	G	G	A	rs116024658	byFrequency	TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr5:7835501G>A	ENST00000399810.2	-	2	726	c.258C>T	c.(256-258)aaC>aaT	p.N86N	C5orf49_ENST00000509627.1_Silent_p.N86N	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	86										large_intestine(3)|lung(5)|skin(1)	9						TTACCTCTTCGTTAACATGAA	0.343													G|||	192	0.0383387	0.1399	0.0086	5008	,	,		19430	0.0		0.001	False		,,,				2504	0.0																0			5						G		399,3251		17,365,1443	135.0	133.0	133.0		258	-5.0	0.1	5	dbSNP_132	133	4,8190		0,4,4093	no	coding-synonymous	C5orf49	NM_001089584.1		17,369,5536	AA,AG,GG		0.0488,10.9315,3.4026		86/148	7835501	403,11441	1825	4097	5922	7888501	SO:0001819	synonymous_variant	134121				CCDS43300.1	5p15.31	2008-07-16			ENSG00000215217	ENSG00000215217			27028	protein-coding gene	gene with protein product						12477932	Standard	NM_001089584		Approved	LOC134121	uc003jea.5	A4QMS7	OTTHUMG00000161897	ENST00000399810.2:c.258C>T	5.37:g.7835501G>A			7888501		Silent	SNP	ENST00000399810.2	37	CCDS43300.1																																																																																				0.343	C5orf49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366322.1	NM_001089584	
MAP1B	4131	hgsc.bcm.edu	37	5	71490158	71490158	+	Missense_Mutation	SNP	C	C	T	rs200457818		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr5:71490158C>T	ENST00000296755.7	+	5	1274	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	326			R -> Q (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATGTTACAGCGGAAAATTGC	0.488																																					Melanoma(17;367 822 11631 31730 47712)												0			5											65.0	62.0	63.0					5																	71490158		2203	4300	6503	71525914	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.976C>T	5.37:g.71490158C>T	ENSP00000296755:p.Arg326Trp		71525914	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214346	0.58452	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.26067	1.76;1.76;1.76	6.17	5.23	0.72850	.	0.000000	0.64402	D	0.000016	T	0.55337	0.1914	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58929	-0.7549	10	0.87932	D	0	-9.6741	16.3651	0.83317	0.2155:0.7845:0.0:0.0	.	200;326	A2BDK6;P46821	.;MAP1B_HUMAN	W	326;343;200	ENSP00000296755:R326W;ENSP00000423444:R343W;ENSP00000423416:R200W	ENSP00000296755:R326W	R	+	1	2	MAP1B	71525914	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.220000	0.32491	2.941000	0.99782	0.655000	0.94253	CGG		0.488	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
APC	324	hgsc.bcm.edu	37	5	112174596	112174596	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr5:112174596A>G	ENST00000457016.1	+	16	3685	c.3305A>G	c.(3304-3306)tAc>tGc	p.Y1102C	APC_ENST00000257430.4_Missense_Mutation_p.Y1102C|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.Y1102C			P25054	APC_HUMAN	adenomatous polyposis coli	1102	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTTTCTCCATACAGGTCACGG	0.398		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)	5											91.0	85.0	87.0					5																	112174596		2202	4300	6502	112202495	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3305A>G	5.37:g.112174596A>G	ENSP00000413133:p.Tyr1102Cys		112202495	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	9.141	1.013775	0.19277	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.94897	-2.8;-3.55;-2.8;-2.8;-2.97	5.76	4.57	0.56435	.	0.227965	0.39615	N	0.001309	D	0.89083	0.6614	N	0.24115	0.695	0.34643	D	0.720894	P;P	0.46327	0.876;0.464	B;B	0.43360	0.417;0.219	D	0.89905	0.4047	10	0.51188	T	0.08	-10.0347	7.1184	0.25429	0.566:0.1195:0.0:0.3145	.	1104;1102	Q4LE70;P25054	.;APC_HUMAN	C	1102;1084;1102;1102;1102	ENSP00000413133:Y1102C;ENSP00000423224:Y1084C;ENSP00000257430:Y1102C;ENSP00000427089:Y1102C;ENSP00000423828:Y1102C	ENSP00000257430:Y1102C	Y	+	2	0	APC	112202495	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	1.878000	0.39608	0.977000	0.38444	0.533000	0.62120	TAC		0.398	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175423	112175423	+	Nonsense_Mutation	SNP	C	C	T	rs121913329		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr5:112175423C>T	ENST00000457016.1	+	16	4512	c.4132C>T	c.(4132-4134)Cag>Tag	p.Q1378*	APC_ENST00000257430.4_Nonsense_Mutation_p.Q1378*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.Q1378*			P25054	APC_HUMAN	adenomatous polyposis coli	1378	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.Q1378*(47)|p.Q1378fs*7(2)|p.Y1376fs*41(1)|p.?(1)|p.Q1378fs*5(1)|p.Q1378fs*8(1)|p.K1192fs*3(1)|p.Y1376fs*5(1)|p.Y1376fs*1(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACACTATGTTCAGGAGACCCC	0.468		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	56	Substitution - Nonsense(47)|Deletion - Frameshift(6)|Unknown(1)|Complex - frameshift(1)|Insertion - Frameshift(1)	large_intestine(49)|stomach(5)|soft_tissue(1)|skin(1)	5											91.0	87.0	88.0					5																	112175423		2202	4300	6502	112203322	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4132C>T	5.37:g.112175423C>T	ENSP00000413133:p.Gln1378*		112203322	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.764727	0.98945	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.1139	20.4898	0.99202	0.0:1.0:0.0:0.0	.	.	.	.	X	1378	.	.	Q	+	1	0	APC	112203322	1.000000	0.71417	0.999000	0.59377	0.831000	0.47069	5.761000	0.68801	2.941000	0.99782	0.655000	0.94253	CAG		0.468	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
SMAD5	4090	hgsc.bcm.edu	37	5	135489805	135489805	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr5:135489805A>G	ENST00000545279.1	+	3	716	c.356A>G	c.(355-357)aAa>aGa	p.K119R	SMAD5_ENST00000545620.1_Missense_Mutation_p.K119R|SMAD5_ENST00000514641.2_3'UTR	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	119	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTAAGCAAAAAGAAGTTTGT	0.388																																																	0			5											48.0	44.0	46.0					5																	135489805		1843	4103	5946	135517704	SO:0001583	missense	4090			U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000545279.1:c.356A>G	5.37:g.135489805A>G	ENSP00000441954:p.Lys119Arg		135517704	O14688|Q15798|Q9UQA1	Missense_Mutation	SNP	ENST00000545279.1	37		.	.	.	.	.	.	.	.	.	.	A	27.9	4.875622	0.91664	.	.	ENSG00000113658	ENST00000507118;ENST00000511116;ENST00000545279;ENST00000545620	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.87277	0.6137	M	0.83852	2.665	0.80722	D	1	D	0.56035	0.974	P	0.58928	0.848	D	0.89301	0.3626	10	0.87932	D	0	.	15.8063	0.78513	1.0:0.0:0.0:0.0	.	119	F5GWU7	.	R	119	ENSP00000425749:K119R;ENSP00000424279:K119R;ENSP00000441954:K119R;ENSP00000446474:K119R	ENSP00000425749:K119R	K	+	2	0	SMAD5	135517704	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.135000	0.66039	0.528000	0.53228	AAA		0.388	SMAD5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005903	
PCDHA5	56143	hgsc.bcm.edu	37	5	140203498	140203498	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr5:140203498C>T	ENST00000529859.1	+	1	2138	c.2138C>T	c.(2137-2139)aCg>aTg	p.T713M	PCDHA5_ENST00000529619.1_Missense_Mutation_p.T713M|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.T713M|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	713					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCTCACGCTGCTGCTG	0.697																																																	0			5											61.0	58.0	59.0					5																	140203498		2203	4299	6502	140183682	SO:0001583	missense	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2138C>T	5.37:g.140203498C>T	ENSP00000436557:p.Thr713Met		140183682	O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207693	0.39003	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.14516	2.5;2.5;2.5	4.17	3.23	0.37069	.	.	.	.	.	T	0.25606	0.0623	M	0.79011	2.435	0.09310	N	1	P;D;D	0.58268	0.904;0.982;0.982	B;P;P	0.51582	0.246;0.674;0.674	T	0.08576	-1.0715	9	0.66056	D	0.02	.	8.0924	0.30807	0.0:0.7137:0.1468:0.1396	.	713;713;713	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	M	713	ENSP00000433416:T713M;ENSP00000436557:T713M;ENSP00000367366:T713M	ENSP00000367366:T713M	T	+	2	0	PCDHA5	140183682	0.002000	0.14202	0.993000	0.49108	0.302000	0.27658	1.228000	0.32588	2.046000	0.60703	0.491000	0.48974	ACG		0.697	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908	
SCGB3A2	117156	hgsc.bcm.edu	37	5	147261095	147261095	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr5:147261095C>A	ENST00000296694.4	+	2	235	c.142C>A	c.(142-144)Cca>Aca	p.P48T	SCGB3A2_ENST00000504320.1_Missense_Mutation_p.P3T|C5orf46_ENST00000510432.1_Intron|SCGB3A2_ENST00000514688.1_3'UTR	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2	48						endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTATGGATCCATTAAAGCT	0.473																																																	0			5											173.0	171.0	172.0					5																	147261095		2203	4300	6503	147241288	SO:0001583	missense	117156			AF313455	CCDS4287.1	5q32	2011-12-14			ENSG00000164265	ENSG00000164265		"""Secretoglobins"""	18391	protein-coding gene	gene with protein product	"""uteroglobin-related protein 1"", ""pneumo secretory protein 1"", ""uteroglobin related protein 1"""	606531				11682631, 22155607	Standard	NM_054023		Approved	UGRP1, LU103, PNSP1	uc003lot.2	Q96PL1	OTTHUMG00000129729	ENST00000296694.4:c.142C>A	5.37:g.147261095C>A	ENSP00000296694:p.Pro48Thr		147241288		Missense_Mutation	SNP	ENST00000296694.4	37	CCDS4287.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723909	0.68959	.	.	ENSG00000164265	ENST00000504320;ENST00000296694	T;T	0.14022	2.54;2.54	5.5	5.5	0.81552	.	0.090124	0.49305	D	0.000144	T	0.31918	0.0812	.	.	.	0.80722	D	1	D	0.63046	0.992	P	0.60415	0.874	T	0.00449	-1.1732	9	0.45353	T	0.12	-4.5118	15.2625	0.73634	0.0:1.0:0.0:0.0	.	48	Q96PL1	SG3A2_HUMAN	T	3;48	ENSP00000423930:P3T;ENSP00000296694:P48T	ENSP00000296694:P48T	P	+	1	0	SCGB3A2	147241288	0.972000	0.33761	0.672000	0.29872	0.151000	0.21798	3.542000	0.53625	2.755000	0.94549	0.555000	0.69702	CCA		0.473	SCGB3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251939.1	NM_054023	
ZNF354C	30832	hgsc.bcm.edu	37	5	178505825	178505825	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr5:178505825A>G	ENST00000315475.6	+	5	698	c.392A>G	c.(391-393)gAg>gGg	p.E131G		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GTGGAATTTGAGAGCGAGATA	0.378																																																	0			5											88.0	94.0	92.0					5																	178505825		2203	4300	6503	178438431	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.392A>G	5.37:g.178505825A>G	ENSP00000324064:p.Glu131Gly		178438431	Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	A	11.86	1.765119	0.31228	.	.	ENSG00000177932	ENST00000315475	T	0.05925	3.37	3.87	2.66	0.31614	.	.	.	.	.	T	0.04998	0.0134	L	0.27053	0.805	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.38499	-0.9658	9	0.39692	T	0.17	-4.6231	7.2189	0.25975	0.7724:0.2276:0.0:0.0	.	131	Q86Y25	Z354C_HUMAN	G	131	ENSP00000324064:E131G	ENSP00000324064:E131G	E	+	2	0	ZNF354C	178438431	0.057000	0.20700	0.003000	0.11579	0.019000	0.09904	1.850000	0.39328	0.610000	0.30035	0.482000	0.46254	GAG		0.378	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2		
UGT2B28	54490	hgsc.bcm.edu	37	4	70156530	70156530	+	Splice_Site	SNP	G	G	A			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr4:70156530G>A	ENST00000335568.5	+	5	1312		c.e5+1		UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28						metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						ATGATCCTTCGTGAGTAGAAC	0.398																																																	0			4											109.0	118.0	115.0					4																	70156530		2043	4237	6280	70191119	SO:0001630	splice_region_variant	54490			AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1310+1G>A	4.37:g.70156530G>A			70191119	B5BUM0|Q9BY62|Q9BY63	Splice_Site	SNP	ENST00000335568.5	37	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	.	10.50	1.366935	0.24771	.	.	ENSG00000135226	ENST00000335568	.	.	.	1.85	1.85	0.25348	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3109	0.37903	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UGT2B28	70191119	1.000000	0.71417	0.860000	0.33809	0.110000	0.19582	3.081000	0.50120	1.023000	0.39654	0.184000	0.17185	.		0.398	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039	Intron
ZNF717	100131827	hgsc.bcm.edu	37	3	75786761	75786761	+	Frame_Shift_Del	DEL	C	C	-	rs145576551		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr3:75786761delC	ENST00000478296.1	-	4	2139	c.1863delG	c.(1861-1863)gggfs	p.G621fs	ZNF717_ENST00000400845.3_Frame_Shift_Del_p.G664fs|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000422325.1_Frame_Shift_Del_p.G671fs|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000477374.1_Intron			Q9BY31	ZN717_HUMAN	zinc finger protein 717	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						TACGGTTTTTCCCCGTGTGAG	0.408																																																	0			3								1106,1664		310,486,589	12.0	11.0	11.0			0.3	0.0	3	dbSNP_134	19	3067,3341		691,1685,828	no	frameshift	ZNF717	NM_001128223.1		1001,2171,1417	A1A1,A1R,RR		47.862,39.9278,45.4674			75786761	4173,5005	587	1452	2039	75869451	SO:0001589	frameshift_variant	100131827			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.1863delG	3.37:g.75786761delC	ENSP00000419377:p.Gly621fs		75869451		Frame_Shift_Del	DEL	ENST00000478296.1	37																																																																																					0.408	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223	
MUC4	4585	hgsc.bcm.edu	37	3	195506271	195506318	+	In_Frame_Del	DEL	ACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC	ACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC	-	rs199896027|rs201839412|rs192584273|rs62282465|rs199596856|rs62282466|rs77023345|rs551098007|rs563580319|rs201564403|rs201191776|rs200161977|rs377584277|rs202208985|rs200602926|rs201679145	byFrequency	TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	ACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC	ACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr3:195506271_195506318delACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC	ENST00000463781.3	-	2	12592_12639	c.12133_12180delGACACCACCCCTCTTCCTGTCACCAATGCTTCCTCATTATCCACAGGT	c.(12133-12180)gacaccacccctcttcctgtcaccaatgcttcctcattatccacaggtdel	p.DTTPLPVTNASSLSTG4045del	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.DTTPLPVTNASSLSTG4045del|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P4050T(3)|p.T4046A(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGTGGCGTGACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGAT	0.589																																																	5	Substitution - Missense(5)	kidney(3)|haematopoietic_and_lymphoid_tissue(2)	3							,,	213,2197		69,75,1061					,,		0.0			23	808,3672		295,218,1727	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	364,293,2788	A1A1,A1R,RR		18.0357,8.8382,14.8186	,,	,,		1021,5869				196991097	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12133_12180delGACACCACCCCTCTTCCTGTCACCAATGCTTCCTCATTATCCACAGGT	3.37:g.195506271_195506318delACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC	ENSP00000417498:p.Asp4045_Gly4060del		196991050	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.589	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195506713	195506760	+	In_Frame_Del	DEL	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	-	rs62282473|rs550221890|rs62282471|rs200597845|rs201121891|rs9882363|rs192522651|rs62282470|rs554841787|rs201914190|rs200055147|rs181895767|rs374267078|rs199635197|rs201530419|rs200381819|rs201961213	byFrequency	TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr3:195506713_195506760delGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	ENST00000463781.3	-	2	12150_12197	c.11691_11738delATCCACACGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGC	c.(11689-11739)gcatccacacgtcacgccacccctcttcctgtcaccgacacttcctcagct>gct	p.3897_3913ASTRHATPLPVTDTSSA>A	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.3897_3913ASTRHATPLPVTDTSSA>A|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A3902V(2)|p.P3904S(2)|p.A3902T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ATCTGTGGAAGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGATGCTGAGGAAG	0.593																																																	5	Substitution - Missense(5)	kidney(2)|skin(2)|endometrium(1)	3							,,	327,1561		144,39,761					,,		0.0			8	1397,2107		610,177,965	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	754,216,1726	A1A1,A1R,RR		39.8687,17.3199,31.9733	,,	,,		1724,3668				196991539	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11691_11738delATCCACACGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGC	3.37:g.195506713_195506760delGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	ENSP00000417498:p.Ala3897_Ser3912del		196991492	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.593	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
KRTAP5-2	440021	hgsc.bcm.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706|rs199811378|rs36134435|rs61869704|rs59506446	byFrequency	TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggctccaaggggggctgtggctcctgtgggggt>ggt	p.93_103GSKGGCGSCGG>G	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657																																																	0			11																																								1575778	SO:0001651	inframe_deletion	440021			AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	11.37:g.1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENSP00000400041:p.Gly103_Gly112del		1575749	A9JTZ1	In_Frame_Del	DEL	ENST00000412090.1	37	CCDS31331.1																																																																																				0.657	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325	
CASP5	838	hgsc.bcm.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-	rs372526393		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr11:104879687delT	ENST00000260315.3	-	2	27	c.28delA	c.(28-30)aggfs	p.R11fs	CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393141.2_Frame_Shift_Del_p.R24fs|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000444749.2_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	11					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388																																																	0			11							,,,	18,749,3497		0,0,18,1,747,1366	101.0	98.0	99.0		,,,	-1.9	0.0	11		107	8,1495,6751		0,0,8,0,1495,2624	no	codingComplex,codingComplex,intron,intron	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	0,0,26,1,2242,3990	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2094,17.9878,18.1339	,,,	,,,	104879687	26,2244,10248	2201	4299	6500	104384897	SO:0001589	frameshift_variant	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.28delA	11.37:g.104879687delT	ENSP00000260315:p.Arg11fs		104384897	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	ENST00000260315.3	37	CCDS8328.2																																																																																				0.388	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347	
CEP290	80184	hgsc.bcm.edu	37	12	88512305	88512305	+	Frame_Shift_Del	DEL	T	T	-	rs77980773		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr12:88512305delT	ENST00000552810.1	-	17	2009	c.1666delA	c.(1666-1668)attfs	p.I556fs	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Frame_Shift_Del_p.I558fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	556					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.I558fs*20(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ATTTGACGAATTTTTTTTTTC	0.308																																																	1	Insertion - Frameshift(1)	central_nervous_system(1)	12	GRCh37	CD073590	CEP290	D	rs77980773						60.0	54.0	56.0					12																	88512305		1798	4051	5849	87036436	SO:0001589	frameshift_variant	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1666delA	12.37:g.88512305delT	ENSP00000448012:p.Ile556fs		87036436	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Del	DEL	ENST00000552810.1	37	CCDS55858.1																																																																																				0.308	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
ACIN1	22985	hgsc.bcm.edu	37	14	23548783	23548784	+	In_Frame_Ins	INS	-	-	GAACGT	rs78164858|rs148403158|rs61741621|rs5807202|rs3077646	byFrequency	TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr14:23548783_23548784insGAACGT	ENST00000262710.1	-	6	2261_2262	c.1934_1935insACGTTC	c.(1933-1935)tct>tcACGTTCt	p.645_645S>SRS	ACIN1_ENST00000457657.1_In_Frame_Ins_p.605_605S>SRS|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000605057.1_In_Frame_Ins_p.587_587S>SRS|ACIN1_ENST00000555053.1_In_Frame_Ins_p.645_645S>SRS	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	645	Ser-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ATGCTGAACGAGAACGTGAACG	0.485														1942	0.38778	0.5318	0.2637	5008	,	,		21370	0.4226		0.2664	False		,,,				2504	0.3701																0			14							,,	2635,143,113,3,1370		775,98,106,3,878,1,1,0,42,0,0,6,0,0,222					,,	-4.2	0.3		dbSNP_126	219	3073,1,288,0,4892		417,1,253,0,1985,0,0,0,0,0,0,35,0,0,1436	no	codingComplex,codingComplex,codingComplex	ACIN1	NM_014977.3,NM_001164815.1,NM_001164814.1	,,	1192,99,359,3,2863,1,1,0,42,0,0,41,0,0,1658	A1A1,A1A2,A1A3,A1A4,A1R,A2A2,A2A3,A2A4,A2R,A3A3,A3A4,A3R,A4A4,A4R,RR		40.7318,38.2036,49.976	,,	,,		5708,144,401,3,6262				22618624	SO:0001652	inframe_insertion	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1929_1934dupACGTTC	14.37:g.23548784_23548789dupGAACGT	ENSP00000262710:p.ArgSer647dup		22618623	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	In_Frame_Ins	INS	ENST00000262710.1	37	CCDS9587.1																																																																																				0.485	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977	
DDHD1	80821	hgsc.bcm.edu	37	14	53619480	53619481	+	In_Frame_Ins	INS	-	-	GCCGCC	rs140904345|rs55671452|rs200797826	byFrequency	TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr14:53619480_53619481insGCCGCC	ENST00000323669.5	-	1	335_336	c.336_337insGGCGGC	c.(334-339)ggcagc>ggcGGCGGCagc	p.111_112insGG	AL356020.1_ENST00000584587.1_RNA|DDHD1_ENST00000357758.3_In_Frame_Ins_p.111_112insGG|RP11-547D23.1_ENST00000554235.1_RNA|DDHD1_ENST00000395606.1_In_Frame_Ins_p.111_112insGG	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	111					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GACAAGGAGCTGCCGCCGCCGC	0.703														3933	0.785343	0.4962	0.8718	5008	,	,		9770	0.9673		0.833	False		,,,				2504	0.8783																0			14																																								52689231	SO:0001652	inframe_insertion	80821			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.331_336dupGGCGGC	14.37:g.53619481_53619486dupGCCGCC	ENSP00000327104:p.Gly110_Gly111dup		52689230	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	In_Frame_Ins	INS	ENST00000323669.5	37	CCDS53895.1																																																																																				0.703	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1		
AAGAB	79719	hgsc.bcm.edu	37	15	67495195	67495196	+	Frame_Shift_Del	DEL	AT	AT	-	rs371502228		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	AT	AT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr15:67495195_67495196delAT	ENST00000261880.5	-	10	1015_1016	c.911_912delAT	c.(910-912)gatfs	p.D304fs	AAGAB_ENST00000561452.1_Frame_Shift_Del_p.D195fs|AAGAB_ENST00000538028.1_5'UTR|AAGAB_ENST00000542650.1_Frame_Shift_Del_p.D195fs	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	304					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						CTTCAATTTCATCTCTGTCTCC	0.431																																																	0			15																																								65282250	SO:0001589	frameshift_variant	0			AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.911_912delAT	15.37:g.67495195_67495196delAT	ENSP00000261880:p.Asp304fs		65282249	B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Frame_Shift_Del	DEL	ENST00000261880.5	37	CCDS42050.1																																																																																				0.431	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	NM_024666	
USB1	79650	hgsc.bcm.edu	37	16	58048187	58048188	+	Frame_Shift_Ins	INS	-	-	CTGC			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr16:58048187_58048188insCTGC	ENST00000219281.3	+	4	571_572	c.460_461insCTGC	c.(460-462)actfs	p.-155fs	USB1_ENST00000561743.1_Frame_Shift_Ins_p.-104fs|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000539737.2_Intron	NM_024598.3	NP_078874.2			U6 snRNA biogenesis 1																		ATTCTTCTTTACTGCCAACCAG	0.351																																																	0			16																																								56605689	SO:0001589	frameshift_variant	79650			AK023216	CCDS10791.1, CCDS55997.1, CCDS55998.1	16q13	2014-09-17	2012-08-21	2012-08-21	ENSG00000103005	ENSG00000103005			25792	protein-coding gene	gene with protein product	"""HVSL motif containing 1"", ""poikiloderma with neutropenia"", ""U six biogenesis 1"", ""mutated in poikiloderma with neutropenia protein 1"""	613276	"""chromosome 16 open reading frame 57"""	C16orf57		20004881, 20503306, 22899009	Standard	NM_024598		Approved	FLJ13154, HVSL1, Mpn1	uc002emz.3	Q9BQ65	OTTHUMG00000133456	ENST00000219281.3:c.461_464dupCTGC	16.37:g.58048188_58048191dupCTGC	ENSP00000219281:p.Ala155fs		56605688		Frame_Shift_Ins	INS	ENST00000219281.3	37	CCDS10791.1																																																																																				0.351	USB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257331.3	NM_024598	
KRTAP4-1	85285	hgsc.bcm.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																																	4	Deletion - In frame(4)	upper_aerodigestive_tract(2)|prostate(2)	17																																								36594378	SO:0001651	inframe_deletion	85285			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del		36594322	A8MWS7|Q3SYF2	Frame_Shift_Del	DEL	ENST00000398472.1	37																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060	
PLEKHH3	79990	hgsc.bcm.edu	37	17	40823492	40823493	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	CT	CT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chr17:40823492_40823493delCT	ENST00000591022.1	-	8	1547_1548	c.1160_1161delAG	c.(1159-1161)gagfs	p.E387fs	PLEKHH3_ENST00000293349.6_Frame_Shift_Del_p.E387fs|PLEKHH3_ENST00000412503.1_Frame_Shift_Del_p.E387fs|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	387	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AGGGCACCAGCTCTCTGCCGCG	0.668																																																	0			17																																								38077019	SO:0001589	frameshift_variant	79990			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1160_1161delAG	17.37:g.40823496_40823497delCT	ENSP00000468678:p.Glu387fs		38077018	C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Frame_Shift_Del	DEL	ENST00000591022.1	37	CCDS11434.1																																																																																				0.668	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927	
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	INS	-	-	C			TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	-	-					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chrUnknown:0_0insC								None (None upstream) : None (None downstream)																								0.0																																																	0			20																																								55400100	SO:0001628	intergenic_variant	55544																															Unknown.37:g.0_0insC			55400099		Frame_Shift_Ins	INS		37																																																																																				0	0								
SHROOM4	57477	hgsc.bcm.edu	37	X	50350758	50350759	+	In_Frame_Ins	INS	-	-	TGCTGCTGCTGT	rs201922875|rs553160982		TCGA-F5-6813-01A-11D-1826-10	TCGA-F5-6813-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	a1a70ad7-3e5b-4d2a-966b-c42bbdcb200a	23581057-9765-403e-b67a-3049a0050b84	g.chrX:50350758_50350759insTGCTGCTGCTGT	ENST00000289292.7	-	6	3666_3667	c.3383_3384insACAGCAGCAGCA	c.(3382-3384)cag>caACAGCAGCAGCAg	p.1128_1128Q>QQQQQ	SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1128_1128Q>QQQQQ|SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1012_1012Q>QQQQQ			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgctg	0.589																																																	0			X								12,1892,1813		0,4,5,3,450,721,267,412,263						-6.4	0.0			16	21,2147,4298		1,7,3,9,306,942,586,1095,1163	no	codingComplex	SHROOM4	NM_020717.3		1,11,8,12,756,1663,853,1507,1426	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.5292,49.0987,39.9882				33,4039,6111				50367499	SO:0001652	inframe_insertion	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3372_3383dupACAGCAGCAGCA	X.37:g.50350758_50350759insTGCTGCTGCTGT	ENSP00000289292:p.GlnGlnGlnGln1128dup		50367498	A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS	ENST00000289292.7	37	CCDS35277.1																																																																																				0.589	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717	
