#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
GET4	51608	hgsc.bcm.edu	37	7	926225	926225	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr7:926225T>C	ENST00000265857.3	+	3	348	c.254T>C	c.(253-255)tTg>tCg	p.L85S	RP11-449P15.2_ENST00000609998.1_RNA|GET4_ENST00000407192.1_Missense_Mutation_p.L32S	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	85					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCAGCAGACTTGTCCATGCTG	0.562																																																	0			7											144.0	136.0	139.0					7																	926225		2203	4300	6503	892751	SO:0001583	missense	0			AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"""CGI-20 protein"", ""conserved edge protein"", ""transmembrane domain recognition complex, 35kDa"""	612056	"""chromosome 7 open reading frame 20"""	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.254T>C	7.37:g.926225T>C	ENSP00000265857:p.Leu85Ser		892751	A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Missense_Mutation	SNP	ENST00000265857.3	37	CCDS5317.1	.	.	.	.	.	.	.	.	.	.	t	26.2	4.717465	0.89205	.	.	ENSG00000239857	ENST00000265857;ENST00000412734;ENST00000407192;ENST00000441491	T	0.76186	-1.0	5.58	5.58	0.84498	.	0.069705	0.64402	D	0.000013	D	0.88306	0.6401	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90571	0.4522	10	0.87932	D	0	-17.0699	15.7423	0.77910	0.0:0.0:0.0:1.0	.	85	Q7L5D6	GET4_HUMAN	S	85;39;32;97	ENSP00000265857:L85S	ENSP00000265857:L85S	L	+	2	0	GET4	892751	1.000000	0.71417	0.688000	0.30117	0.918000	0.54935	7.781000	0.85668	2.116000	0.64780	0.529000	0.55759	TTG		0.562	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000231930.1	NM_015949	
BLVRA	644	hgsc.bcm.edu	37	7	43832380	43832380	+	Silent	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr7:43832380T>C	ENST00000402924.1	+	6	484	c.321T>C	c.(319-321)gcT>gcC	p.A107A	BLVRA_ENST00000265523.4_Silent_p.A107A	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	107					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						TGGCGGCCGCTCAGGAACTGT	0.453																																																	0			7											70.0	64.0	66.0					7																	43832380		2203	4300	6503	43798905	SO:0001819	synonymous_variant	644			BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.321T>C	7.37:g.43832380T>C			43798905	A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Silent	SNP	ENST00000402924.1	37	CCDS5472.1																																																																																				0.453	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712	
BAZ1B	9031	hgsc.bcm.edu	37	7	72891434	72891434	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr7:72891434T>C	ENST00000339594.4	-	7	2695	c.2357A>G	c.(2356-2358)gAa>gGa	p.E786G	BAZ1B_ENST00000404251.1_Missense_Mutation_p.E786G	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	786					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				atcattttcttccttCAACAC	0.433																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0			7											71.0	65.0	67.0					7																	72891434		2203	4300	6503	72529370	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2357A>G	7.37:g.72891434T>C	ENSP00000342434:p.Glu786Gly		72529370	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.718204	0.48622	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.62105	0.05;0.05	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	M	0.65498	2.005	0.58432	D	0.999999	D	0.59767	0.986	P	0.50970	0.655	T	0.65463	-0.6162	10	0.20046	T	0.44	-26.8675	14.9553	0.71107	0.0:0.0:0.0:1.0	.	786	Q9UIG0	BAZ1B_HUMAN	G	786	ENSP00000342434:E786G;ENSP00000385442:E786G	ENSP00000342434:E786G	E	-	2	0	BAZ1B	72529370	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.639000	0.83342	2.219000	0.72066	0.459000	0.35465	GAA		0.433	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408	
PTPN12	5782	hgsc.bcm.edu	37	7	77247821	77247821	+	Missense_Mutation	SNP	G	G	A	rs9640663	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr7:77247821G>A	ENST00000248594.6	+	12	1236	c.964G>A	c.(964-966)Gtc>Atc	p.V322I	PTPN12_ENST00000415482.2_Missense_Mutation_p.V203I|PTPN12_ENST00000435495.2_Missense_Mutation_p.V192I	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	322			V -> I (in dbSNP:rs9640663). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:1472029, ECO:0000269|PubMed:18669648, ECO:0000269|Ref.5}.		protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TGAAAACATGGTCAGCTCCAT	0.353													G|||	3943	0.78734	0.8729	0.7695	5008	,	,		15802	0.9048		0.6252	False		,,,				2504	0.7301																0			7						G	ILE/VAL,ILE/VAL,ILE/VAL	3643,763	755.1+/-412.5	1510,623,70	115.0	119.0	118.0		607,574,964	3.4	1.0	7	dbSNP_119	118	5049,3551	629.9+/-398.3	1521,2007,772	yes	missense,missense,missense	PTPN12	NM_001131008.1,NM_001131009.1,NM_002835.3	29,29,29	3031,2630,842	AA,AG,GG		41.2907,17.3173,33.1693	benign,benign,benign	203/662,192/651,322/781	77247821	8692,4314	2203	4300	6503	77085757	SO:0001583	missense	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.964G>A	7.37:g.77247821G>A	ENSP00000248594:p.Val322Ile		77085757	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	CCDS5592.1	1661	0.7605311355311355	424	0.8617886178861789	266	0.7348066298342542	508	0.8881118881118881	463	0.6108179419525066	G	12.04	1.817478	0.32145	0.826827	0.587093	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;T;T	0.34472	1.36;1.36;1.36	5.21	3.41	0.39046	.	0.432581	0.24759	N	0.035823	T	0.00012	0.0000	N	0.17674	0.51	0.39781	P	0.027707000000000037	B	0.02656	0.0	B	0.06405	0.002	T	0.23048	-1.0199	9	0.15066	T	0.55	.	9.1932	0.37211	0.2234:0.0:0.7766:0.0	rs9640663;rs17382002;rs17854591;rs58031922;rs9640663	322	Q05209	PTN12_HUMAN	I	322;203;203;192	ENSP00000248594:V322I;ENSP00000392429:V203I;ENSP00000397991:V192I	ENSP00000248594:V322I	V	+	1	0	PTPN12	77085757	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	2.143000	0.42187	0.696000	0.31696	0.467000	0.42956	GTC		0.353	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3		
ABCB1	5243	hgsc.bcm.edu	37	7	87160636	87160636	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr7:87160636T>C	ENST00000265724.3	-	22	3076	c.2659A>G	c.(2659-2661)Aag>Gag	p.K887E	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.K823E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	887	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		K -> N (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AGTTCTTTCTTATCTTTCAGT	0.348																																																	0			7											131.0	132.0	132.0					7																	87160636		2203	4300	6503	86998572	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2659A>G	7.37:g.87160636T>C	ENSP00000265724:p.Lys887Glu		86998572	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852941	0.71719	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.91686	-2.89;-2.89	5.67	5.67	0.87782	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96237	0.8773	M	0.83012	2.62	0.58432	D	0.999999	P;D	0.89917	0.467;1.0	B;D	0.87578	0.084;0.998	D	0.96771	0.9568	10	0.87932	D	0	-14.596	16.1924	0.82000	0.0:0.0:0.0:1.0	.	823;887	B5AK60;P08183	.;MDR1_HUMAN	E	668;887;823	ENSP00000265724:K887E;ENSP00000444095:K823E	ENSP00000265724:K887E	K	-	1	0	ABCB1	86998572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.113000	0.77095	2.287000	0.76781	0.482000	0.46254	AAG		0.348	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
FAM200A	221786	hgsc.bcm.edu	37	7	99145377	99145377	+	Silent	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr7:99145377G>A	ENST00000449309.1	-	2	1033	c.654C>T	c.(652-654)acC>acT	p.T218T		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	218						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						tgtgttttccggtcatatttg	0.343																																																	0			7											70.0	68.0	69.0					7																	99145377		1556	2754	4310	98983313	SO:0001819	synonymous_variant	0				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 38"""	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.654C>T	7.37:g.99145377G>A			98983313	A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Silent	SNP	ENST00000449309.1	37	CCDS5668.1																																																																																				0.343	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	NM_145111	
MUC17	140453	hgsc.bcm.edu	37	7	100681303	100681303	+	Silent	SNP	T	T	C	rs143516283		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr7:100681303T>C	ENST00000306151.4	+	3	6670	c.6606T>C	c.(6604-6606)ccT>ccC	p.P2202P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2202	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTTCATCTCCTACAACTTCTG	0.507																																																	0			7											311.0	311.0	311.0					7																	100681303		2203	4300	6503	100468023	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6606T>C	7.37:g.100681303T>C			100468023	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
SLC26A4	5172	hgsc.bcm.edu	37	7	107315423	107315423	+	Missense_Mutation	SNP	G	G	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr7:107315423G>C	ENST00000265715.3	+	6	858	c.634G>C	c.(634-636)Gtg>Ctg	p.V212L		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	212					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGGATTCATAGTGAGGTACTT	0.413									Pendred syndrome																																								0			7											271.0	249.0	256.0					7																	107315423		2203	4300	6503	107102659	SO:0001583	missense	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.634G>C	7.37:g.107315423G>C	ENSP00000265715:p.Val212Leu		107102659	B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070310	0.93950	.	.	ENSG00000091137	ENST00000265715	D	0.94138	-3.36	5.61	5.61	0.85477	Sulphate transporter (1);	0.000000	0.64402	D	0.000002	D	0.96275	0.8785	M	0.76727	2.345	0.80722	D	1	D	0.64830	0.994	P	0.62382	0.901	D	0.96096	0.9065	10	0.59425	D	0.04	.	19.6254	0.95676	0.0:0.0:1.0:0.0	.	212	O43511	S26A4_HUMAN	L	212	ENSP00000265715:V212L	ENSP00000265715:V212L	V	+	1	0	SLC26A4	107102659	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.313000	0.96297	2.642000	0.89623	0.650000	0.86243	GTG		0.413	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	
PPP1R3A	5506	hgsc.bcm.edu	37	7	113518304	113518304	+	Missense_Mutation	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr7:113518304G>A	ENST00000284601.3	-	4	2911	c.2843C>T	c.(2842-2844)aCg>aTg	p.T948M		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	948					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.T948M(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTCTGATTTCGTAGAAATAGG	0.383																																																	1	Substitution - Missense(1)	prostate(1)	7											89.0	89.0	89.0					7																	113518304		2203	4299	6502	113305540	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2843C>T	7.37:g.113518304G>A	ENSP00000284601:p.Thr948Met		113305540	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	6.104	0.387372	0.11581	.	.	ENSG00000154415	ENST00000284601	T	0.21191	2.02	5.71	3.89	0.44902	.	0.636589	0.15483	N	0.259983	T	0.28101	0.0693	L	0.53249	1.67	0.09310	N	1	D	0.67145	0.996	P	0.50490	0.642	T	0.07927	-1.0747	10	0.54805	T	0.06	0.2371	9.2831	0.37740	0.0728:0.0:0.7829:0.1443	.	948	Q16821	PPR3A_HUMAN	M	948	ENSP00000284601:T948M	ENSP00000284601:T948M	T	-	2	0	PPP1R3A	113305540	0.000000	0.05858	0.002000	0.10522	0.103000	0.19146	0.270000	0.18607	0.746000	0.32786	0.650000	0.86243	ACG		0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
CTTNBP2	83992	hgsc.bcm.edu	37	7	117431428	117431428	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr7:117431428A>G	ENST00000160373.3	-	4	1913	c.1822T>C	c.(1822-1824)Tcc>Ccc	p.S608P	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	608					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGCTGAGGGGAGGATGACTTA	0.547																																																	0			7											68.0	65.0	66.0					7																	117431428		2203	4300	6503	117218664	SO:0001583	missense	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1822T>C	7.37:g.117431428A>G	ENSP00000160373:p.Ser608Pro		117218664	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.56|18.56	3.650327|3.650327	0.67472|0.67472	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|T	.|0.68624	.|-0.34	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.047019	.|0.85682	.|D	.|0.000000	T|T	0.73760|0.73760	0.3628|0.3628	M|M	0.75447|0.75447	2.3|2.3	0.44214|0.44214	D|D	0.997046|0.997046	.|D	.|0.56746	.|0.977	.|P	.|0.48738	.|0.588	T|T	0.77490|0.77490	-0.2568|-0.2568	5|10	.|0.56958	.|D	.|0.05	0.0257|0.0257	16.3426|16.3426	0.83092|0.83092	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|608	.|Q8WZ74	.|CTTB2_HUMAN	P|P	136|608	.|ENSP00000160373:S608P	.|ENSP00000160373:S608P	L|S	-|-	2|1	0|0	CTTNBP2|CTTNBP2	117218664|117218664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.286000|5.286000	0.65639|0.65639	2.317000|2.317000	0.78254|0.78254	0.460000|0.460000	0.39030|0.39030	CTC|TCC		0.547	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
CPED1	79974	hgsc.bcm.edu	37	7	120629709	120629709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr7:120629709C>T	ENST00000310396.5	+	2	501	c.34C>T	c.(34-36)Cga>Tga	p.R12*	CPED1_ENST00000340646.5_Nonsense_Mutation_p.R12*|CPED1_ENST00000450913.2_Nonsense_Mutation_p.R12*|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	12						endoplasmic reticulum (GO:0005783)		p.R12*(1)									TTGTCGTCGGCGATTTTGCCC	0.562																																																	1	Substitution - Nonsense(1)	large_intestine(1)	7											128.0	114.0	119.0					7																	120629709		2203	4300	6503	120416945	SO:0001587	stop_gained	79974				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.34C>T	7.37:g.120629709C>T	ENSP00000309772:p.Arg12*		120416945	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Nonsense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	37	6.496659	0.97616	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	.	.	.	5.64	4.75	0.60458	.	0.198839	0.33057	N	0.005338	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3463	0.49563	0.0:0.9173:0.0:0.0827	.	.	.	.	X	12	.	ENSP00000309772:R12X	R	+	1	2	C7orf58	120416945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.247000	0.51422	2.662000	0.90505	0.655000	0.94253	CGA		0.562	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	
HIPK2	28996	hgsc.bcm.edu	37	7	139299047	139299047	+	Missense_Mutation	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr7:139299047G>A	ENST00000406875.3	-	8	2069	c.1975C>T	c.(1975-1977)Ccc>Tcc	p.P659S	HIPK2_ENST00000342645.6_Missense_Mutation_p.P659S|HIPK2_ENST00000428878.2_Missense_Mutation_p.P632S	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	659	Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AAGCCGGGGGGACACACGATG	0.612																																																	0			7											27.0	33.0	31.0					7																	139299047		1968	4149	6117	138949587	SO:0001583	missense	28996			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1975C>T	7.37:g.139299047G>A	ENSP00000385571:p.Pro659Ser		138949587	Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37		.	.	.	.	.	.	.	.	.	.	G	27.5	4.839292	0.91117	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.61158	0.3;0.13;0.36	5.48	5.48	0.80851	.	.	.	.	.	T	0.78855	0.4349	.	.	.	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.986;0.998	T	0.80266	-0.1454	8	0.62326	D	0.03	.	19.7173	0.96127	0.0:0.0:1.0:0.0	.	659;632	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	S	659;632;659	ENSP00000385571:P659S;ENSP00000413724:P632S;ENSP00000343108:P659S	ENSP00000343108:P659S	P	-	1	0	HIPK2	138949587	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.724000	0.93272	0.563000	0.77884	CCC		0.612	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740	
ZNF786	136051	hgsc.bcm.edu	37	7	148767801	148767801	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr7:148767801T>C	ENST00000491431.1	-	4	2127	c.2063A>G	c.(2062-2064)aAg>aGg	p.K688R	ZNF786_ENST00000451334.3_Missense_Mutation_p.K651R|ZNF786_ENST00000316286.9_Missense_Mutation_p.K602R	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	688					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CAGCTGCGCCTTCAGGCGGAA	0.552																																																	0			7											84.0	92.0	90.0					7																	148767801		2120	4253	6373	148398734	SO:0001583	missense	136051			AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.2063A>G	7.37:g.148767801T>C	ENSP00000417470:p.Lys688Arg		148398734	A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	T	10.55	1.380656	0.24944	.	.	ENSG00000197362	ENST00000316286;ENST00000491431;ENST00000451334	T;T;T	0.15834	2.39;2.39;2.39	4.56	3.41	0.39046	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.199618	0.25052	N	0.033518	T	0.08044	0.0201	N	0.17872	0.535	0.09310	N	1	B	0.26120	0.142	B	0.15870	0.014	T	0.35847	-0.9772	10	0.11794	T	0.64	-16.9546	5.832	0.18586	0.0:0.2043:0.0:0.7957	.	688	Q8N393	ZN786_HUMAN	R	602;688;651	ENSP00000313516:K602R;ENSP00000417470:K688R;ENSP00000404984:K651R	ENSP00000313516:K602R	K	-	2	0	ZNF786	148398734	0.000000	0.05858	0.195000	0.23364	0.023000	0.10783	-0.538000	0.06120	0.800000	0.34041	0.533000	0.62120	AAG		0.552	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411	
ZNF777	27153	hgsc.bcm.edu	37	7	149129870	149129870	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr7:149129870T>C	ENST00000247930.4	-	6	1816	c.1493A>G	c.(1492-1494)gAg>gGg	p.E498G		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTCCTCGCCCTCGGGGGACAT	0.677																																																	0			7											16.0	19.0	18.0					7																	149129870		1936	4122	6058	148760803	SO:0001583	missense	27153			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1493A>G	7.37:g.149129870T>C	ENSP00000247930:p.Glu498Gly		148760803	Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	T	9.872	1.199146	0.22121	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.06068	3.35	4.44	4.44	0.53790	.	0.120556	0.36854	N	0.002367	T	0.04952	0.0133	N	0.19112	0.55	0.19300	N	0.99998	B	0.18310	0.027	B	0.19391	0.025	T	0.31861	-0.9928	10	0.46703	T	0.11	-7.9914	10.039	0.42146	0.0:0.0:0.0:1.0	.	498	Q9ULD5-2	.	G	498;241	ENSP00000247930:E498G	ENSP00000247930:E498G	E	-	2	0	ZNF777	148760803	0.000000	0.05858	0.558000	0.28319	0.893000	0.52053	0.176000	0.16782	1.868000	0.54150	0.383000	0.25322	GAG		0.677	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694	
DEFB126	81623	hgsc.bcm.edu	37	20	126160	126160	+	Missense_Mutation	SNP	C	C	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr20:126160C>G	ENST00000382398.3	+	2	423	c.163C>G	c.(163-165)Caa>Gaa	p.Q55E	DEFB126_ENST00000542572.1_Intron	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	55					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GTGCGGCAAACAAAGGGACTG	0.423																																																	0			20											198.0	173.0	181.0					20																	126160		2203	4300	6503	74160	SO:0001583	missense	81623				CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.163C>G	20.37:g.126160C>G	ENSP00000371835:p.Gln55Glu		74160	Q562G3|Q9H1M5	Missense_Mutation	SNP	ENST00000382398.3	37	CCDS12990.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.809865	0.00606	.	.	ENSG00000125788	ENST00000382398	T	0.11063	2.81	3.66	-7.22	0.01485	.	4.295760	0.00447	N	0.000089	T	0.03220	0.0094	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34403	-0.9830	10	0.06236	T	0.91	-0.006	3.6146	0.08073	0.1986:0.4947:0.1739:0.1328	.	55	Q9BYW3	DB126_HUMAN	E	55	ENSP00000371835:Q55E	ENSP00000371835:Q55E	Q	+	1	0	DEFB126	74160	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.131000	0.03238	-1.402000	0.02056	-1.224000	0.01588	CAA		0.423	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931	
FKBP1A	2280	hgsc.bcm.edu	37	20	1356217	1356217	+	Missense_Mutation	SNP	G	G	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr20:1356217G>C	ENST00000400137.4	-	3	279	c.116C>G	c.(115-117)tCc>tGc	p.S39C	SDCBP2-AS1_ENST00000609470.1_RNA|SDCBP2-AS1_ENST00000609285.1_RNA|FKBP1A_ENST00000381719.3_Missense_Mutation_p.S39C|FKBP1A_ENST00000439640.2_Missense_Mutation_p.S23C|FKBP1A_ENST00000381715.1_Missense_Mutation_p.S34C|FKBP1A_ENST00000381724.3_Missense_Mutation_p.S34C|SDCBP2-AS1_ENST00000446423.1_RNA	NM_000801.4	NP_000792.1	P62942	FKB1A_HUMAN	FK506 binding protein 1A, 12kDa	39	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				'de novo' protein folding (GO:0006458)|amyloid fibril formation (GO:1990000)|calcium ion transmembrane transport (GO:0070588)|chaperone-mediated protein folding (GO:0061077)|extracellular fibril organization (GO:0043206)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|protein peptidyl-prolyl isomerization (GO:0000413)|protein refolding (GO:0042026)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of amyloid precursor protein catabolic process (GO:1902991)|regulation of immune response (GO:0050776)|regulation of protein localization (GO:0032880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|SMAD protein complex assembly (GO:0007183)|T cell activation (GO:0042110)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|terminal cisterna (GO:0014802)|Z disc (GO:0030018)	activin binding (GO:0048185)|FK506 binding (GO:0005528)|ion channel binding (GO:0044325)|macrolide binding (GO:0005527)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|type I transforming growth factor beta receptor binding (GO:0034713)			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3					Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)	GTCCCGGGAGGAATCAAATTT	0.473																																																	0			20											68.0	63.0	65.0					20																	1356217		2203	4300	6503	1304217	SO:0001583	missense	2280			M92423	CCDS13014.1, CCDS74688.1	20p13	2013-03-20	2002-08-29		ENSG00000088832	ENSG00000088832			3711	protein-coding gene	gene with protein product	"""calstabin 1"""	186945	"""FK506-binding protein 1A (12kD)"""	FKBP1		1930186	Standard	NM_000801		Approved	FKBP-12, FKBP12, PKC12, PPIASE, FKBP12C	uc002wey.3	P62942	OTTHUMG00000031666	ENST00000400137.4:c.116C>G	20.37:g.1356217G>C	ENSP00000383003:p.Ser39Cys		1304217	D3DVW6|P20071|Q4VC47|Q6FGD9|Q6LEU3|Q9H103|Q9H566	Missense_Mutation	SNP	ENST00000400137.4	37	CCDS13014.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192995	0.78902	.	.	ENSG00000088832	ENST00000400137;ENST00000381724;ENST00000381719;ENST00000381715;ENST00000439640	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	4.99	4.02	0.46733	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.47093	D	0.000248	T	0.80265	0.4591	H	0.96365	3.81	0.54753	D	0.999982	D;D	0.71674	0.994;0.998	D;D	0.73708	0.959;0.981	D	0.87114	0.2187	10	0.87932	D	0	.	14.6542	0.68820	0.0:0.0:0.8533:0.1467	.	23;39	Q1JUQ5;P62942	.;FKB1A_HUMAN	C	39;34;39;34;23	ENSP00000383003:S39C;ENSP00000371143:S34C;ENSP00000371138:S39C;ENSP00000371134:S34C;ENSP00000409863:S23C	ENSP00000371134:S34C	S	-	2	0	FKBP1A	1304217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.493000	0.97960	1.425000	0.47237	0.561000	0.74099	TCC		0.473	FKBP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077534.2		
ACSS1	84532	hgsc.bcm.edu	37	20	24993471	24993471	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr20:24993471T>C	ENST00000323482.4	-	11	1763	c.1684A>G	c.(1684-1686)Acc>Gcc	p.T562A	ACSS1_ENST00000542618.1_Missense_Mutation_p.T441A|ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000484396.1_5'Flank|ACSS1_ENST00000537502.1_Missense_Mutation_p.T479A	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	562					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATCTCTGCGGTCCCCAGCCGG	0.592																																																	0			20											127.0	110.0	116.0					20																	24993471		2203	4300	6503	24941471	SO:0001583	missense	84532				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1684A>G	20.37:g.24993471T>C	ENSP00000316924:p.Thr562Ala		24941471	B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390804	0.82902	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000542618	T;T;T	0.50548	0.74;0.74;0.74	4.84	4.84	0.62591	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.71753	0.3377	M	0.87328	2.875	0.80722	D	1	D;P;P;P	0.89917	1.0;0.857;0.882;0.911	D;P;P;P	0.87578	0.998;0.773;0.855;0.768	T	0.77840	-0.2438	10	0.87932	D	0	-29.933	13.5653	0.61815	0.0:0.0:0.0:1.0	.	357;560;562;479	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	A	562;357;479;441	ENSP00000316924:T562A;ENSP00000439304:T479A;ENSP00000437657:T441A	ENSP00000316924:T562A	T	-	1	0	ACSS1	24941471	1.000000	0.71417	0.945000	0.38365	0.969000	0.65631	7.538000	0.82048	1.928000	0.55862	0.533000	0.62120	ACC		0.592	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501	
NINL	22981	hgsc.bcm.edu	37	20	25457076	25457076	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr20:25457076A>G	ENST00000278886.6	-	17	2924	c.2851T>C	c.(2851-2853)Tcg>Ccg	p.S951P	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	951					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGGGTTTGCGAGGCGTCTCTC	0.667																																																	0			20											16.0	17.0	17.0					20																	25457076		2182	4270	6452	25405076	SO:0001583	missense	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2851T>C	20.37:g.25457076A>G	ENSP00000278886:p.Ser951Pro		25405076	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	A	7.141	0.581822	0.13749	.	.	ENSG00000101004	ENST00000278886	T	0.26518	1.73	2.99	-5.36	0.02689	.	7.181740	0.00166	N	0.000000	T	0.11410	0.0278	N	0.14661	0.345	0.09310	N	1	B	0.30068	0.267	B	0.23018	0.043	T	0.10428	-1.0630	10	0.56958	D	0.05	4.4313	0.2947	0.00264	0.2226:0.1712:0.2674:0.3388	.	951	Q9Y2I6	NINL_HUMAN	P	951	ENSP00000278886:S951P	ENSP00000278886:S951P	S	-	1	0	NINL	25405076	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.273000	0.08548	-0.854000	0.04131	-0.516000	0.04426	TCG		0.667	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176	
ASXL1	171023	hgsc.bcm.edu	37	20	31024481	31024481	+	Silent	SNP	G	G	A	rs147326327		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr20:31024481G>A	ENST00000375687.4	+	13	4390	c.3966G>A	c.(3964-3966)ccG>ccA	p.P1322P	ASXL1_ENST00000306058.5_Silent_p.P1317P	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1322					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTGCGGACCCGATGCCTCTTC	0.572			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0			20						G		1,4405	2.1+/-5.4	0,1,2202	41.0	44.0	43.0		3966	-9.1	0.0	20	dbSNP_134	43	0,8600		0,0,4300	no	coding-synonymous	ASXL1	NM_015338.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1322/1542	31024481	1,13005	2203	4300	6503	30488142	SO:0001819	synonymous_variant	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3966G>A	20.37:g.31024481G>A			30488142	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	CCDS13201.1																																																																																				0.572	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
DNMT3B	1789	hgsc.bcm.edu	37	20	31388033	31388033	+	Missense_Mutation	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr20:31388033G>A	ENST00000328111.2	+	17	2155	c.1834G>A	c.(1834-1836)Gct>Act	p.A612T	DNMT3B_ENST00000348286.2_Missense_Mutation_p.A592T|DNMT3B_ENST00000443239.3_Missense_Mutation_p.A550T|DNMT3B_ENST00000344505.4_Missense_Mutation_p.A592T|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Missense_Mutation_p.A604T|DNMT3B_ENST00000353855.2_Missense_Mutation_p.A592T|DNMT3B_ENST00000456297.2_Missense_Mutation_p.A516T	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	612	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAGTCCATTGCTGTTGGAAC	0.507																																																	0			20											245.0	211.0	222.0					20																	31388033		2203	4300	6503	30851694	SO:0001583	missense	1789				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1834G>A	20.37:g.31388033G>A	ENSP00000328547:p.Ala612Thr		30851694	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	9.382	1.073340	0.20147	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	5.65	4.69	0.59074	.	0.057077	0.64402	D	0.000001	T	0.60586	0.2280	N	0.25426	0.745	0.80722	D	1	B;B;B;B;B;B;B	0.25441	0.022;0.126;0.04;0.049;0.009;0.018;0.118	B;B;B;B;B;B;B	0.36092	0.173;0.145;0.1;0.024;0.061;0.024;0.217	T	0.51733	-0.8668	10	0.02654	T	1	-20.6388	10.9376	0.47253	0.1466:0.0:0.8534:0.0	.	516;550;311;604;592;592;612	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	T	612;592;592;550;516;592;604	ENSP00000328547:A612T;ENSP00000313397:A592T;ENSP00000337764:A592T;ENSP00000403169:A550T;ENSP00000412305:A516T;ENSP00000345105:A592T;ENSP00000201963:A604T	ENSP00000201963:A604T	A	+	1	0	DNMT3B	30851694	0.997000	0.39634	0.530000	0.27963	0.817000	0.46193	2.718000	0.47236	2.810000	0.96702	0.650000	0.86243	GCT		0.507	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	
DHX35	60625	hgsc.bcm.edu	37	20	37597768	37597768	+	Missense_Mutation	SNP	C	C	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr20:37597768C>G	ENST00000252011.3	+	2	118	c.85C>G	c.(85-87)Ctg>Gtg	p.L29V	DHX35_ENST00000373323.4_Missense_Mutation_p.L29V|DHX35_ENST00000373325.2_Missense_Mutation_p.L29V	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	29					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GAGACAAAGTCTGGCTGAAAA	0.453																																																	0			20											83.0	66.0	72.0					20																	37597768		2203	4300	6503	37031182	SO:0001583	missense	60625			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.85C>G	20.37:g.37597768C>G	ENSP00000252011:p.Leu29Val		37031182	A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	C	3.352	-0.132404	0.06753	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.09445	4.15;4.22;4.15;2.98	5.57	-1.56	0.08532	.	0.664334	0.14829	N	0.295966	T	0.03739	0.0106	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41805	-0.9488	10	0.20046	T	0.44	.	3.4908	0.07637	0.3731:0.3268:0.2218:0.0784	.	29;29	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	V	29;29;29;25	ENSP00000362422:L29V;ENSP00000252011:L29V;ENSP00000362420:L29V;ENSP00000414630:L25V	ENSP00000252011:L29V	L	+	1	2	DHX35	37031182	0.028000	0.19301	0.507000	0.27676	0.685000	0.39939	0.191000	0.17076	0.038000	0.15604	-0.169000	0.13324	CTG		0.453	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931	
PLCG1	5335	hgsc.bcm.edu	37	20	39793965	39793965	+	Silent	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr20:39793965T>C	ENST00000373271.1	+	14	1872	c.1467T>C	c.(1465-1467)tcT>tcC	p.S489S	PLCG1_ENST00000373272.2_Silent_p.S489S|PLCG1_ENST00000244007.3_Silent_p.S489S	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	489	PH 2; first part. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TCAGCAACTCTATCAAGAATG	0.577																																																	0			20											105.0	96.0	99.0					20																	39793965		2203	4300	6503	39227379	SO:0001819	synonymous_variant	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1467T>C	20.37:g.39793965T>C			39227379	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	CCDS13314.1																																																																																				0.577	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
ARFGEF2	10564	hgsc.bcm.edu	37	20	47585760	47585760	+	Missense_Mutation	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr20:47585760G>A	ENST00000371917.4	+	9	1136	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	379					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CTTGTGTTCCGCTCCCTGTGC	0.532																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0			20											213.0	147.0	169.0					20																	47585760		2203	4300	6503	47019167	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1136G>A	20.37:g.47585760G>A	ENSP00000360985:p.Arg379His		47019167	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590521	0.96590	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.50001	0.76	5.91	5.91	0.95273	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85766	0.1352	10	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	379	Q9Y6D5	BIG2_HUMAN	H	379	ENSP00000360985:R379H	ENSP00000360985:R379H	R	+	2	0	ARFGEF2	47019167	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CGC		0.532	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	
ATP9A	10079	hgsc.bcm.edu	37	20	50310553	50310553	+	Silent	SNP	C	C	T	rs150864262		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr20:50310553C>T	ENST00000338821.5	-	7	900	c.636G>A	c.(634-636)acG>acA	p.T212T	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	212					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCACGGCGGCCGTGGGGAGCC	0.617																																																	0			20						C		0,4398		0,0,2199	40.0	44.0	43.0		636	-10.1	0.0	20	dbSNP_134	43	1,8597		0,1,4298	no	coding-synonymous	ATP9A	NM_006045.1		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		212/1048	50310553	1,12995	2199	4299	6498	49743960	SO:0001819	synonymous_variant	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.636G>A	20.37:g.50310553C>T			49743960	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	CCDS33489.1																																																																																				0.617	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045	
OGFR	11054	hgsc.bcm.edu	37	20	61444693	61444693	+	Missense_Mutation	SNP	G	G	A	rs35813009	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr20:61444693G>A	ENST00000290291.6	+	7	1751	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	OGFR_ENST00000370461.1_Missense_Mutation_p.E524K	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	576	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].			E -> K (in Ref. 1; AAF64406, 2 and 5; BAB15775). {ECO:0000305}.	opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CGAGCCAGCCGAGAGCCCATC	0.751													G|||	1063	0.21226	0.2927	0.2349	5008	,	,		8783	0.1677		0.2555	False		,,,				2504	0.089																0			20											3.0	7.0	6.0					20																	61444693		1480	3390	4870	60915138	SO:0001583	missense	11054			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1726G>A	20.37:g.61444693G>A	ENSP00000290291:p.Glu576Lys		60915138	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	491	0.22481684981684982	137	0.2784552845528455	84	0.23204419889502761	78	0.13636363636363635	192	0.2532981530343008	g	9.066	0.995706	0.19043	.	.	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	T;T	0.52983	0.64;0.64	1.49	-2.99	0.05497	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.27765	0.188;0.188	B;B	0.13407	0.009;0.009	T	0.32295	-0.9912	8	0.18710	T	0.47	.	6.4368	0.21827	0.3151:0.0:0.6849:0.0	rs35813009;rs60843362	576;576	B3KMQ6;Q9NZT2	.;OGFR_HUMAN	K	576;556;411;524	ENSP00000290291:E576K;ENSP00000359491:E524K	ENSP00000290291:E576K	E	+	1	0	OGFR	60915138	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	1.586000	0.36611	-1.508000	0.01800	-1.863000	0.00559	GAG		0.751	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1		
OGFR	11054	hgsc.bcm.edu	37	20	61444697	61444697	+	Missense_Mutation	SNP	G	G	C	rs6122315	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr20:61444697G>C	ENST00000290291.6	+	7	1755	c.1730G>C	c.(1729-1731)aGc>aCc	p.S577T	OGFR_ENST00000370461.1_Missense_Mutation_p.S525T	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	577	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].		S -> T (in dbSNP:rs6122315). {ECO:0000269|PubMed:10677613, ECO:0000269|PubMed:11214971, ECO:0000269|Ref.2}.	S -> I (in Ref. 1; AAF64406). {ECO:0000305}.	opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CCAGCCGAGAGCCCATCGGAG	0.746													G|||	1836	0.366613	0.4523	0.3386	5008	,	,		8711	0.4425		0.2813	False		,,,				2504	0.2802																0			20											4.0	8.0	7.0					20																	61444697		1542	3467	5009	60915142	SO:0001583	missense	11054			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1730G>C	20.37:g.61444697G>C	ENSP00000290291:p.Ser577Thr		60915142	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	814	0.3727106227106227	201	0.40853658536585363	122	0.3370165745856354	257	0.4493006993006993	234	0.3087071240105541	N	0.731	-0.780004	0.02929	.	.	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	T;T	0.40225	1.04;1.04	1.6	0.0673	0.14365	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.17465	0.022	B	0.08055	0.003	T	0.46062	-0.9218	8	0.08599	T	0.76	.	5.1866	0.15187	0.1685:0.2423:0.5892:0.0	rs6122315;rs11543350;rs61541616	577	Q9NZT2	OGFR_HUMAN	T	577;557;412;525	ENSP00000290291:S577T;ENSP00000359491:S525T	ENSP00000290291:S577T	S	+	2	0	OGFR	60915142	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-0.633000	0.05483	-0.232000	0.09811	0.089000	0.15464	AGC		0.746	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1		
TPD52L2	7165	hgsc.bcm.edu	37	20	62500732	62500732	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr20:62500732A>G	ENST00000346249.4	+	2	179	c.103A>G	c.(103-105)Act>Gct	p.T35A	TPD52L2_ENST00000348257.5_Missense_Mutation_p.T35A|TPD52L2_ENST00000351424.4_Missense_Mutation_p.T35A|TPD52L2_ENST00000352482.4_Missense_Mutation_p.T35A|TPD52L2_ENST00000369927.4_Missense_Mutation_p.T12A|TPD52L2_ENST00000217121.5_Missense_Mutation_p.T35A|TPD52L2_ENST00000358548.4_Missense_Mutation_p.T35A	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	35					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					GGCTGCCCGGACTCCTGCTGT	0.547																																																	0			20											96.0	94.0	95.0					20																	62500732		2203	4300	6503	61971176	SO:0001583	missense	7165			AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.103A>G	20.37:g.62500732A>G	ENSP00000343547:p.Thr35Ala		61971176	B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Missense_Mutation	SNP	ENST00000346249.4	37	CCDS13540.1	.	.	.	.	.	.	.	.	.	.	A	9.436	1.086832	0.20390	.	.	ENSG00000101150	ENST00000369927;ENST00000346249;ENST00000348257;ENST00000352482;ENST00000351424;ENST00000217121;ENST00000358548	T;T;T;T;T;T;T	0.29917	1.55;2.03;2.03;2.03;2.03;2.03;2.03	5.62	0.846	0.18955	.	0.496506	0.22016	N	0.065787	T	0.17195	0.0413	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.001;0.001;0.001	B;B;B;B;B;B;B	0.15052	0.003;0.008;0.007;0.007;0.002;0.005;0.012	T	0.33954	-0.9848	10	0.08381	T	0.77	-1.6331	8.9132	0.35565	0.5532:0.0:0.4468:0.0	.	12;35;35;35;35;35;35	B4DPJ6;Q68E05;O43399;O43399-4;O43399-3;Q5U0E0;Q5JWU6	.;.;TPD54_HUMAN;.;.;.;.	A	12;35;35;35;35;35;35	ENSP00000358943:T12A;ENSP00000343547:T35A;ENSP00000343554:T35A;ENSP00000344647:T35A;ENSP00000340006:T35A;ENSP00000217121:T35A;ENSP00000351350:T35A	ENSP00000217121:T35A	T	+	1	0	TPD52L2	61971176	0.004000	0.15560	0.822000	0.32727	0.991000	0.79684	0.733000	0.26087	-0.108000	0.12066	0.529000	0.55759	ACT		0.547	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080248.1		
OPRL1	4987	hgsc.bcm.edu	37	20	62729803	62729803	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr20:62729803A>G	ENST00000349451.3	+	6	1176	c.764A>G	c.(763-765)gAc>gGc	p.D255G	OPRL1_ENST00000336866.2_Missense_Mutation_p.D255G|OPRL1_ENST00000355631.4_Missense_Mutation_p.D255G	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	255					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CGAGAGAAGGACCGGAACCTG	0.647																																																	0			20											124.0	110.0	115.0					20																	62729803		2203	4299	6502	62200247	SO:0001583	missense	4987				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.764A>G	20.37:g.62729803A>G	ENSP00000336764:p.Asp255Gly		62200247	Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.394930	0.83011	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.72051	-0.62;-0.62;-0.62	4.63	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79907	0.4527	L	0.49778	1.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.81984	-0.0682	10	0.72032	D	0.01	.	14.0556	0.64767	1.0:0.0:0.0:0.0	.	250;255	P41146-2;P41146	.;OPRX_HUMAN	G	255	ENSP00000336843:D255G;ENSP00000347848:D255G;ENSP00000336764:D255G	ENSP00000336843:D255G	D	+	2	0	OPRL1	62200247	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.096000	0.94182	1.727000	0.51537	0.409000	0.27619	GAC		0.647	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647	
USP18	11274	hgsc.bcm.edu	37	22	18656570	18656570	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr22:18656570A>G	ENST00000215794.7	+	10	1464	c.1034A>G	c.(1033-1035)gAa>gGa	p.E345G		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	345	USP.				cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						GTGTCCTGGGAAGACATCCAG	0.507																																																	0			22											45.0	41.0	43.0					22																	18656570		2203	4293	6496	17036570	SO:0001583	missense	11274			AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"""Ubiquitin-specific peptidases"""	12616	protein-coding gene	gene with protein product		607057	"""ubiquitin specific protease 18"""			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.1034A>G	22.37:g.18656570A>G	ENSP00000215794:p.Glu345Gly		17036570	Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP	ENST00000215794.7	37	CCDS13752.1	.	.	.	.	.	.	.	.	.	.	.	18.99	3.740748	0.69304	.	.	ENSG00000184979	ENST00000215794;ENST00000441683	T	0.37411	1.2	4.8	4.8	0.61643	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.221459	0.46442	D	0.000283	T	0.46776	0.1410	M	0.75884	2.315	0.26583	N	0.973331	P	0.44521	0.837	P	0.47299	0.543	T	0.50250	-0.8850	10	0.66056	D	0.02	.	12.5678	0.56320	1.0:0.0:0.0:0.0	.	345	Q9UMW8	UBP18_HUMAN	G	345;177	ENSP00000215794:E345G	ENSP00000215794:E345G	E	+	2	0	USP18	17036570	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	5.441000	0.66569	1.905000	0.55150	0.519000	0.50382	GAA		0.507	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1		
AP1B1	162	hgsc.bcm.edu	37	22	29750810	29750810	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr22:29750810A>G	ENST00000405198.1	-	6	798	c.767T>C	c.(766-768)gTg>gCg	p.V256A	AP1B1_ENST00000415447.1_Missense_Mutation_p.V256A|AP1B1_ENST00000402502.1_Missense_Mutation_p.V256A|AP1B1_ENST00000357586.2_Missense_Mutation_p.V256A|AP1B1_ENST00000356015.2_Missense_Mutation_p.V256A|AP1B1_ENST00000432560.2_Missense_Mutation_p.V256A|AP1B1_ENST00000317368.7_Missense_Mutation_p.V256A			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	256					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGCAGAGAGCACCACAGCGGA	0.572																																																	0			22											94.0	77.0	83.0					22																	29750810		2203	4300	6503	28080810	SO:0001583	missense	162			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.767T>C	22.37:g.29750810A>G	ENSP00000384194:p.Val256Ala		28080810	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.942725	0.92526	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62;2.62;2.62	5.29	5.29	0.74685	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.050738	0.85682	D	0.000000	T	0.47544	0.1451	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.76494	0.976;0.999;0.996;0.999	P;D;D;D	0.91635	0.875;0.955;0.977;0.999	T	0.60429	-0.7265	10	0.87932	D	0	-24.4229	15.0492	0.71854	1.0:0.0:0.0:0.0	.	256;256;256;256	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	A	256	ENSP00000350199:V256A;ENSP00000348297:V256A;ENSP00000400065:V256A;ENSP00000384194:V256A;ENSP00000319361:V256A;ENSP00000386071:V256A;ENSP00000387612:V256A;ENSP00000400022:V256A	ENSP00000319361:V256A	V	-	2	0	AP1B1	28080810	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.139000	0.94554	2.228000	0.72767	0.533000	0.62120	GTG		0.572	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127	
TEP1	7011	hgsc.bcm.edu	37	14	20859205	20859205	+	Silent	SNP	C	C	T	rs872074	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr14:20859205C>T	ENST00000262715.5	-	14	2188	c.2148G>A	c.(2146-2148)gcG>gcA	p.A716A	TEP1_ENST00000556935.1_Silent_p.A608A	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	716					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.A716A(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCACCTGCTCCGCCCTCGTGA	0.537													C|||	802	0.160144	0.2685	0.1297	5008	,	,		21203	0.0317		0.1819	False		,,,				2504	0.1452																1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	14						C		1066,3340	389.6+/-327.4	114,838,1251	114.0	92.0	100.0		2148	-11.0	0.1	14	dbSNP_86	100	1515,7085	285.1+/-297.0	135,1245,2920	no	coding-synonymous	TEP1	NM_007110.4		249,2083,4171	TT,TC,CC		17.6163,24.1943,19.8447		716/2628	20859205	2581,10425	2203	4300	6503	19929045	SO:0001819	synonymous_variant	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2148G>A	14.37:g.20859205C>T			19929045	A0AUV9	Silent	SNP	ENST00000262715.5	37	CCDS9548.1																																																																																				0.537	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
LRRC16B	90668	hgsc.bcm.edu	37	14	24525548	24525548	+	Missense_Mutation	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr14:24525548G>A	ENST00000342740.5	+	11	965	c.811G>A	c.(811-813)Ggg>Agg	p.G271R	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	271						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGGGGAGAACGGGAGCTGTGT	0.622																																																	0			14											105.0	83.0	91.0					14																	24525548		2203	4300	6503	23595388	SO:0001583	missense	90668			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.811G>A	14.37:g.24525548G>A	ENSP00000340467:p.Gly271Arg		23595388	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356751	0.41801	.	.	ENSG00000186648	ENST00000342740	T	0.52057	0.68	5.58	2.79	0.32731	.	0.192452	0.47455	N	0.000221	T	0.25158	0.0611	N	0.11789	0.175	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.04294	-1.0962	10	0.21014	T	0.42	-23.3373	7.8653	0.29533	0.2581:0.0:0.7419:0.0	.	271	Q8ND23	LR16B_HUMAN	R	271	ENSP00000340467:G271R	ENSP00000340467:G271R	G	+	1	0	LRRC16B	23595388	0.444000	0.25649	1.000000	0.80357	0.997000	0.91878	0.344000	0.19962	0.317000	0.23160	0.563000	0.77884	GGG		0.622	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360	
CHMP4A	29082	hgsc.bcm.edu	37	14	24682618	24682618	+	Missense_Mutation	SNP	T	T	C	rs533438540		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr14:24682618T>C	ENST00000609024.1	-	1	76	c.28A>G	c.(28-30)Aag>Gag	p.K10E	TM9SF1_ENST00000556387.1_Missense_Mutation_p.K10E|CHMP4A_ENST00000530996.1_5'UTR|MDP1_ENST00000532557.1_5'Flank|TM9SF1_ENST00000530611.1_Missense_Mutation_p.K10E|NEDD8-MDP1_ENST00000604306.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000347519.6_Missense_Mutation_p.K53E|CHMP4A_ENST00000542700.2_5'Flank			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	10	Interaction with phosphoinosides.|Intramolecular interaction with C- terminus. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		GGCTCACCCTTCCCGAAGAGC	0.706																																																	0			14											35.0	38.0	37.0					14																	24682618		2203	4300	6503	23752458	SO:0001583	missense	128866			AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"""Charged multivesicular body proteins"""	20274	protein-coding gene	gene with protein product		610051	"""chromosome 14 open reading frame 123"", ""chromatin modifying protein 4A"""	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.28A>G	14.37:g.24682618T>C	ENSP00000476412:p.Lys10Glu		23752458	Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Missense_Mutation	SNP	ENST00000609024.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.979765|3.979765	0.74360|0.74360	.|.	.|.	ENSG00000254505|ENSG00000100926;ENSG00000254692;ENSG00000254505	ENST00000548308|ENST00000556387;ENST00000530611;ENST00000347519	.|T;T;T	.|0.59638	.|0.89;0.89;0.25	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|1.221540	.|0.06115	.|N	.|0.667896	T|T	0.60117|0.60117	0.2244|0.2244	M|M	0.66297|0.66297	2.02|2.02	0.25155|0.25155	N|N	0.990391|0.990391	.|B;B	.|0.20261	.|0.002;0.043	.|B;B	.|0.16722	.|0.007;0.016	T|T	0.51052|0.51052	-0.8754|-0.8754	5|10	.|0.56958	.|D	.|0.05	.|.	11.0407|11.0407	0.47829|0.47829	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|10;53	.|Q9BY43;Q14D22	.|CHM4A_HUMAN;.	G|E	29|10;10;53	.|ENSP00000451949:K10E;ENSP00000433967:K10E;ENSP00000324205:K53E	.|ENSP00000324205:K53E	E|K	-|-	2|1	0|0	AL096870.1|TM9SF1;AL096870.1;RP11-468E2.1	23752458|23752458	0.982000|0.982000	0.34865|0.34865	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	1.697000|1.697000	0.37784|0.37784	2.106000|2.106000	0.64143|0.64143	0.460000|0.460000	0.39030|0.39030	GAA|AAG		0.706	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169	
SPTB	6710	hgsc.bcm.edu	37	14	65241858	65241858	+	Silent	SNP	G	G	A	rs187631599	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr14:65241858G>A	ENST00000389721.5	-	22	4859	c.4827C>T	c.(4825-4827)tcC>tcT	p.S1609S	SPTB_ENST00000389722.3_Silent_p.S1609S|SPTB_ENST00000389720.3_Silent_p.S1609S|SPTB_ENST00000556626.1_Silent_p.S1609S|SPTB_ENST00000542895.1_Silent_p.S1609S	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1609					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGATCTCATCGGAGATGACGT	0.612													G|||	2	0.000399361	0.0	0.0029	5008	,	,		20285	0.0		0.0	False		,,,				2504	0.0																0			14						G	,	1,4405	2.1+/-5.4	0,1,2202	141.0	115.0	124.0		4827,4827	-5.4	0.0	14		124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPTB	NM_000347.5,NM_001024858.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	1609/2138,1609/2329	65241858	2,13004	2203	4300	6503	64311611	SO:0001819	synonymous_variant	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4827C>T	14.37:g.65241858G>A			64311611	Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	CCDS32100.1																																																																																				0.612	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
PCNX	22990	hgsc.bcm.edu	37	14	71543080	71543080	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr14:71543080A>G	ENST00000304743.2	+	28	5727	c.5281A>G	c.(5281-5283)Agt>Ggt	p.S1761G	PCNX_ENST00000439984.3_Missense_Mutation_p.S1650G|PCNX_ENST00000238570.5_Missense_Mutation_p.S1689G	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1761						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATCTAGGGAGAGTTTCTGTGT	0.428																																																	0			14											120.0	109.0	113.0					14																	71543080		2203	4300	6503	70612833	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5281A>G	14.37:g.71543080A>G	ENSP00000304192:p.Ser1761Gly		70612833	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.389680	0.82902	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.12255	3.09;3.14;2.7	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	M	0.85041	2.73	0.32824	D	0.503199	D;D;D	0.58268	0.974;0.974;0.982	D;P;D	0.70487	0.969;0.695;0.952	T	0.58278	-0.7664	10	0.51188	T	0.08	.	15.3459	0.74337	1.0:0.0:0.0:0.0	.	1689;1650;1761	Q96RV3-3;B2RTR6;Q96RV3	.;.;PCX1_HUMAN	G	1761;1689;1650	ENSP00000304192:S1761G;ENSP00000238570:S1689G;ENSP00000396617:S1650G	ENSP00000238570:S1689G	S	+	1	0	PCNX	70612833	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.710000	0.61873	2.277000	0.76020	0.528000	0.53228	AGT		0.428	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	
SEL1L	6400	hgsc.bcm.edu	37	14	81964333	81964333	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr14:81964333T>C	ENST00000336735.4	-	10	1147	c.1031A>G	c.(1030-1032)gAt>gGt	p.D344G		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	344	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TTCCACTTCATCAGGCAGCCG	0.403																																																	0			14											90.0	79.0	82.0					14																	81964333		2203	4300	6503	81034086	SO:0001583	missense	6400				CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1031A>G	14.37:g.81964333T>C	ENSP00000337053:p.Asp344Gly		81034086	Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.847129	0.91277	.	.	ENSG00000071537	ENST00000336735	T	0.34667	1.35	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.65615	-0.6125	10	0.62326	D	0.03	-18.7479	15.8527	0.78947	0.0:0.0:0.0:1.0	.	344	Q9UBV2	SE1L1_HUMAN	G	344	ENSP00000337053:D344G	ENSP00000337053:D344G	D	-	2	0	SEL1L	81034086	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.525000	0.81892	2.330000	0.79161	0.477000	0.44152	GAT		0.403	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065	
SERPINA10	51156	hgsc.bcm.edu	37	14	94756517	94756517	+	Silent	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr14:94756517G>A	ENST00000393096.1	-	2	879	c.414C>T	c.(412-414)ccC>ccT	p.P138P	SERPINA10_ENST00000554723.1_Silent_p.P178P|SERPINA10_ENST00000261994.4_Silent_p.P138P|SERPINA10_ENST00000554173.1_Silent_p.P138P	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	138	Heparin-binding.				blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GCAGGAGCCCGGGCTTGGTGG	0.597																																																	0			14											47.0	52.0	51.0					14																	94756517		2203	4300	6503	93826270	SO:0001819	synonymous_variant	51156			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.414C>T	14.37:g.94756517G>A			93826270	A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	ENST00000393096.1	37	CCDS9923.1																																																																																				0.597	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186	
PLIN4	729359	hgsc.bcm.edu	37	19	4512369	4512369	+	Missense_Mutation	SNP	C	C	T	rs201981653	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr19:4512369C>T	ENST00000301286.3	-	3	1560	c.1561G>A	c.(1561-1563)Gtc>Atc	p.V521I		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	521	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCACTGCAGACGGTGTCCTTG	0.607													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22209	0.0		0.0	False		,,,				2504	0.0																0			19						C	ILE/VAL	1,4005		0,1,2002	95.0	99.0	98.0		1561	1.6	0.0	19		98	0,8308		0,0,4154	no	missense	PLIN4	NM_001080400.1	29	0,1,6156	TT,TC,CC		0.0,0.025,0.0081	probably-damaging	521/1358	4512369	1,12313	2003	4154	6157	4463369	SO:0001583	missense	0			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1561G>A	19.37:g.4512369C>T	ENSP00000301286:p.Val521Ile		4463369	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	4	0.0018315018315018315	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	15.81	2.942041	0.53079	2.5E-4	0.0	ENSG00000167676	ENST00000301286	T	0.05382	3.45	5.13	1.57	0.23409	.	0.353034	0.20083	N	0.099618	T	0.19406	0.0466	M	0.77313	2.365	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.07558	-1.0766	10	0.22706	T	0.39	-14.5553	8.8392	0.35131	0.0:0.6377:0.2802:0.0821	.	521	Q96Q06	PLIN4_HUMAN	I	521	ENSP00000301286:V521I	ENSP00000301286:V521I	V	-	1	0	PLIN4	4463369	0.514000	0.26202	0.001000	0.08648	0.001000	0.01503	1.820000	0.39032	0.520000	0.28426	-0.305000	0.09177	GTC		0.607	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901	
NACC1	112939	hgsc.bcm.edu	37	19	13246330	13246330	+	Silent	SNP	G	G	A	rs138480405		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr19:13246330G>A	ENST00000292431.4	+	2	435	c.309G>A	c.(307-309)acG>acA	p.T103T		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	103					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TCATGTACACGGCTGGCTTCC	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16927	0.0		0.0	False		,,,				2504	0.0																0			19						G		10,4396	12.9+/-30.5	0,10,2193	36.0	35.0	35.0		309	-8.8	0.9	19	dbSNP_134	35	0,8600		0,0,4300	no	coding-synonymous	NACC1	NM_052876.2		0,10,6493	AA,AG,GG		0.0,0.227,0.0769		103/528	13246330	10,12996	2203	4300	6503	13107330	SO:0001819	synonymous_variant	112939			AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.309G>A	19.37:g.13246330G>A			13107330		Silent	SNP	ENST00000292431.4	37	CCDS12294.1																																																																																				0.627	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876	
C19orf57	79173	hgsc.bcm.edu	37	19	14003622	14003622	+	Missense_Mutation	SNP	G	G	C	rs146539987	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr19:14003622G>C	ENST00000586783.1	-	4	369	c.370C>G	c.(370-372)Cgt>Ggt	p.R124G	C19orf57_ENST00000346736.2_Missense_Mutation_p.R124G|C19orf57_ENST00000591586.1_Missense_Mutation_p.R124G|C19orf57_ENST00000454313.1_Missense_Mutation_p.R124G			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	124					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCACTCCCACGGTCCTCATCC	0.537																																																	0			19											124.0	113.0	116.0					19																	14003622		2203	4300	6503	13864622	SO:0001583	missense	79173			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.370C>G	19.37:g.14003622G>C	ENSP00000465822:p.Arg124Gly		13864622	Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37		.	.	.	.	.	.	.	.	.	.	G	5.760	0.324668	0.10900	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.30981	1.51;1.51	4.64	-3.01	0.05463	.	2.199780	0.02650	N	0.106314	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.004;0.007	B;B	0.18871	0.023;0.023	T	0.19976	-1.0289	10	0.38643	T	0.18	1.1436	4.6506	0.12592	0.0953:0.4951:0.2371:0.1725	.	124;124	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	G	124	ENSP00000404382:R124G;ENSP00000254336:R124G	ENSP00000254336:R124G	R	-	1	0	C19orf57	13864622	0.000000	0.05858	0.005000	0.12908	0.016000	0.09150	-0.059000	0.11731	-0.281000	0.09141	0.561000	0.74099	CGT		0.537	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323	
NWD1	284434	hgsc.bcm.edu	37	19	16918475	16918475	+	Missense_Mutation	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr19:16918475C>T	ENST00000552788.1	+	16	3815	c.3815C>T	c.(3814-3816)aCg>aTg	p.T1272M	NWD1_ENST00000549814.1_Missense_Mutation_p.T1230M|NWD1_ENST00000523826.1_Missense_Mutation_p.T1066M|NWD1_ENST00000339803.6_Missense_Mutation_p.T1137M|NWD1_ENST00000379808.3_Missense_Mutation_p.T1272M|NWD1_ENST00000524140.2_Missense_Mutation_p.T1272M			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1272							ATP binding (GO:0005524)	p.T1272M(1)|p.T1137M(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCCTATTTACGGGCCTCGTG	0.567																																																	2	Substitution - Missense(2)	endometrium(2)	19											81.0	84.0	83.0					19																	16918475		2203	4300	6503	16779475	SO:0001583	missense	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3815C>T	19.37:g.16918475C>T	ENSP00000447224:p.Thr1272Met		16779475	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		.	.	.	.	.	.	.	.	.	.	C	10.56	1.385067	0.25031	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.74002	-0.45;-0.8;-0.45;1.9;1.3;1.9	5.27	5.27	0.74061	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.411545	0.25964	N	0.027180	T	0.78444	0.4284	L	0.43152	1.355	0.09310	N	1	D;D;D	0.76494	0.998;0.999;0.998	P;D;P	0.63703	0.732;0.917;0.828	T	0.70741	-0.4789	10	0.72032	D	0.01	-10.5953	9.9171	0.41442	0.0:0.906:0.0:0.094	.	1272;1272;1137	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	M	1137;1272;1230;1272;1066;1272;1137	ENSP00000428579:T1272M;ENSP00000447548:T1230M;ENSP00000369136:T1272M;ENSP00000428955:T1066M;ENSP00000447224:T1272M;ENSP00000340159:T1137M	ENSP00000340159:T1137M	T	+	2	0	NWD1	16779475	0.047000	0.20315	0.014000	0.15608	0.005000	0.04900	2.135000	0.42112	2.457000	0.83068	0.655000	0.94253	ACG		0.567	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525	
ZNF676	163223	hgsc.bcm.edu	37	19	22363448	22363448	+	Silent	SNP	A	A	T	rs200452805		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr19:22363448A>T	ENST00000397121.2	-	3	1388	c.1071T>A	c.(1069-1071)atT>atA	p.I357I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CAGTATGAATAATCTTATGTT	0.383																																																	0			19											68.0	74.0	72.0					19																	22363448		2162	4271	6433	22155288	SO:0001819	synonymous_variant	163223			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1071T>A	19.37:g.22363448A>T			22155288	A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																				0.383	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
DMKN	93099	hgsc.bcm.edu	37	19	35996856	35996856	+	Silent	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr19:35996856A>G	ENST00000339686.3	-	8	1247	c.1071T>C	c.(1069-1071)ttT>ttC	p.F357F	DMKN_ENST00000474928.1_Silent_p.F4F|DMKN_ENST00000458071.1_Silent_p.F102F|DMKN_ENST00000418261.1_Silent_p.F357F|DMKN_ENST00000467637.1_Silent_p.F82F|DMKN_ENST00000602781.1_Silent_p.F70F|DMKN_ENST00000451297.2_Silent_p.F340F|DMKN_ENST00000392206.2_Silent_p.F70F|DMKN_ENST00000414866.2_Silent_p.F70F|DMKN_ENST00000436012.1_Silent_p.F53F|DMKN_ENST00000447113.2_Silent_p.F407F|DMKN_ENST00000488892.1_Silent_p.F53F|DMKN_ENST00000472252.2_Silent_p.F4F|DMKN_ENST00000402589.2_Silent_p.F70F|DMKN_ENST00000480502.1_Silent_p.F70F|DMKN_ENST00000419602.1_Silent_p.F346F|DMKN_ENST00000443640.1_Silent_p.F120F|DMKN_ENST00000461300.1_Silent_p.F4F|DMKN_ENST00000424570.2_Silent_p.F369F|DMKN_ENST00000429837.1_Silent_p.F316F|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000440396.1_Silent_p.F387F|DMKN_ENST00000492341.2_Silent_p.F4F	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	357						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGAAAGTGTCAAAGTTAAACA	0.507																																																	0			19											158.0	155.0	156.0					19																	35996856		2203	4300	6503	40688696	SO:0001819	synonymous_variant	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1071T>C	19.37:g.35996856A>G			40688696	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Silent	SNP	ENST00000339686.3	37	CCDS12463.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.169|4.169	0.029835|0.029835	0.08101|0.08101	.|.	.|.	ENSG00000161249|ENSG00000161249	ENST00000443857|ENST00000434389	.|.	.|.	.|.	4.55|4.55	-9.11|-9.11	0.00711|0.00711	.|.	.|.	.|.	.|.	.|.	T|.	0.47358|.	0.1441|.	.|.	.|.	.|.	0.44627|0.44627	D|D	0.997607|0.997607	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.55786|.	-0.8086|.	4|.	.|.	.|.	.|.	-5.8847|-5.8847	8.8525|8.8525	0.35208|0.35208	0.6617:0.2093:0.129:0.0|0.6617:0.2093:0.129:0.0	.|.	.|.	.|.	.|.	S|R	61|68	.|.	.|.	L|X	-|-	2|1	0|0	DMKN|DMKN	40688696|40688696	0.742000|0.742000	0.28228|0.28228	0.505000|0.505000	0.27651|0.27651	0.508000|0.508000	0.34012|0.34012	-0.706000|-0.706000	0.05047|0.05047	-1.746000|-1.746000	0.01335|0.01335	-0.182000|-0.182000	0.12963|0.12963	TTG|TGA		0.507	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317	
ARHGAP33	115703	hgsc.bcm.edu	37	19	36279026	36279026	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr19:36279026T>C	ENST00000007510.4	+	21	3703	c.3559T>C	c.(3559-3561)Tct>Cct	p.S1187P	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S1026P|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S1023P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1187	Poly-Ser.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TTCCTCCTCCTCTTCCCCTCC	0.692																																																	0			19											29.0	33.0	32.0					19																	36279026		2195	4285	6480	40970866	SO:0001583	missense	0			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3559T>C	19.37:g.36279026T>C	ENSP00000007510:p.Ser1187Pro		40970866	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37		.	.	.	.	.	.	.	.	.	.	t	15.99	2.994667	0.54041	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.13901	3.04;2.55;2.79	4.68	3.57	0.40892	.	0.000000	0.44285	D	0.000467	T	0.08179	0.0204	N	0.19112	0.55	0.34985	D	0.754435	B;B	0.27229	0.172;0.172	B;B	0.25987	0.065;0.065	T	0.26710	-1.0095	10	0.17832	T	0.49	.	10.3193	0.43756	0.0:0.0:0.1651:0.8349	.	1023;1026	O14559-10;O14559-11	.;.	P	1187;1026;1023	ENSP00000007510:S1187P;ENSP00000320038:S1026P;ENSP00000368227:S1023P	ENSP00000007510:S1187P	S	+	1	0	ARHGAP33	40970866	0.252000	0.23972	0.999000	0.59377	0.907000	0.53573	1.133000	0.31430	1.883000	0.54544	0.330000	0.21533	TCT		0.692	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948	
ZNF227	7770	hgsc.bcm.edu	37	19	44732645	44732645	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr19:44732645A>G	ENST00000313040.7	+	4	312	c.107A>G	c.(106-108)gAa>gGa	p.E36G	ZNF227_ENST00000589237.1_3'UTR|ZNF227_ENST00000391961.2_5'UTR|ZNF227_ENST00000589005.1_5'UTR|ZNF227_ENST00000589707.1_5'UTR|ZNF227_ENST00000586228.1_Silent_p.G22G	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				TCCAGGGAGGAACTGCGACTG	0.493																																																	0			19											243.0	211.0	222.0					19																	44732645		2203	4300	6503	49424485	SO:0001583	missense	7770			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.107A>G	19.37:g.44732645A>G	ENSP00000321049:p.Glu36Gly		49424485	B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	A	14.06	2.423246	0.43020	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000418980	T	0.12255	2.7	3.84	3.84	0.44239	Krueppel-associated box (4);	.	.	.	.	T	0.52869	0.1761	H	0.98901	4.365	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	0.69457	-0.5140	9	0.87932	D	0	.	10.9005	0.47049	1.0:0.0:0.0:0.0	.	22;16;36	Q658S5;Q9NS43;Q86WZ6	.;.;ZN227_HUMAN	G	36;21;22	ENSP00000321049:E36G	ENSP00000321049:E36G	E	+	2	0	ZNF227	49424485	1.000000	0.71417	0.966000	0.40874	0.085000	0.17905	5.335000	0.65929	1.746000	0.51805	0.402000	0.26972	GAA		0.493	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490	
ZNF229	7772	hgsc.bcm.edu	37	19	44933209	44933209	+	Missense_Mutation	SNP	G	G	A	rs370451566		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr19:44933209G>A	ENST00000588931.1	-	6	2180	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Missense_Mutation_p.R577W|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	583					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)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TCTGAATTCCGCCGGAAGCCC	0.582																																																	0			19						G	TRP/ARG	1,4375	2.1+/-5.4	0,1,2187	50.0	55.0	53.0		1747	-1.9	0.0	19		53	0,8590		0,0,4295	no	missense	ZNF229	NM_014518.2	101	0,1,6482	AA,AG,GG		0.0,0.0229,0.0077	probably-damaging	583/826	44933209	1,12965	2188	4295	6483	49625049	SO:0001583	missense	7772			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1747C>T	19.37:g.44933209G>A	ENSP00000466519:p.Arg583Trp		49625049	B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348499	0.24426	2.29E-4	0.0	ENSG00000167383	ENST00000291187	.	.	.	3.5	-1.87	0.07737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36054	0.0953	M	0.64630	1.985	0.09310	N	1	D	0.67145	0.996	P	0.50192	0.634	T	0.25363	-1.0134	8	0.33940	T	0.23	.	4.2277	0.10589	0.1873:0.0:0.3716:0.441	.	583	Q9UJW7	ZN229_HUMAN	W	583	.	ENSP00000291187:R583W	R	-	1	2	ZNF229	49625049	0.000000	0.05858	0.001000	0.08648	0.513000	0.34164	-1.166000	0.03129	-0.203000	0.10251	-0.227000	0.12334	CGG		0.582	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518	
LIG1	3978	hgsc.bcm.edu	37	19	48657141	48657141	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr19:48657141T>C	ENST00000263274.7	-	6	873	c.454A>G	c.(454-456)Aag>Gag	p.K152E	LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.K122E|LIG1_ENST00000599165.1_Intron	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	152			K -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.K152E(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	tcctcctccttcttcctcttg	0.582								Nucleotide excision repair (NER)																																									1	Substitution - Missense(1)	large_intestine(1)	19											196.0	113.0	141.0					19																	48657141		2203	4300	6503	53348953	SO:0001583	missense	26018				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.454A>G	19.37:g.48657141T>C	ENSP00000263274:p.Lys152Glu		53348953	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	T	6.303	0.423919	0.11928	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526	T;T	0.58506	0.44;0.33	3.99	3.99	0.46301	.	0.866238	0.10215	N	0.701604	T	0.46908	0.1417	L	0.54323	1.7	0.80722	D	1	B;B	0.30482	0.281;0.231	B;B	0.27608	0.081;0.027	T	0.33445	-0.9868	10	0.05959	T	0.93	-18.4584	9.5636	0.39385	0.0:0.0:0.0:1.0	.	122;152	B4DTU4;P18858	.;DNLI1_HUMAN	E	152;184;122	ENSP00000263274:K152E;ENSP00000442841:K122E	ENSP00000263274:K152E	K	-	1	0	LIG1	53348953	0.563000	0.26594	0.998000	0.56505	0.189000	0.23516	1.790000	0.38734	2.028000	0.59812	0.496000	0.49642	AAG		0.582	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234	
SIGLEC12	89858	hgsc.bcm.edu	37	19	52004795	52004795	+	Missense_Mutation	SNP	G	G	C	rs61742108|rs371016684	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr19:52004795G>C	ENST00000291707.3	-	1	248	c.193C>G	c.(193-195)Cgg>Ggg	p.R65G	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	65	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCCCTGCCCGGAACCAGTAG	0.597																																																	0			19											83.0	71.0	75.0					19																	52004795		2203	4300	6503	56696607	SO:0001583	missense	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.193C>G	19.37:g.52004795G>C	ENSP00000291707:p.Arg65Gly		56696607	Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	10.38	1.334254	0.24253	.	.	ENSG00000254521	ENST00000291707	T	0.70749	-0.51	2.28	-4.56	0.03431	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66147	0.2760	M	0.92555	3.32	0.09310	N	1	P	0.45986	0.87	B	0.33620	0.167	T	0.56774	-0.7923	9	0.72032	D	0.01	.	3.2272	0.06736	0.3003:0.0:0.3814:0.3183	.	65	Q96PQ1	SIG12_HUMAN	G	65	ENSP00000291707:R65G	ENSP00000291707:R65G	R	-	1	2	SIGLEC12	56696607	0.003000	0.15002	0.003000	0.11579	0.117000	0.20001	-0.338000	0.07842	-2.056000	0.00898	-1.151000	0.01829	CGG		0.597	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003	
U2AF2	11338	hgsc.bcm.edu	37	19	56185420	56185420	+	Missense_Mutation	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr19:56185420C>T	ENST00000308924.4	+	12	1454	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	U2AF2_ENST00000590551.1_Missense_Mutation_p.R304W|CTD-2537I9.12_ENST00000589456.1_RNA|EPN1_ENST00000270460.6_5'Flank|U2AF2_ENST00000450554.2_Missense_Mutation_p.R468W|CTD-2537I9.12_ENST00000585940.1_RNA|CTD-2537I9.13_ENST00000592252.1_RNA|EPN1_ENST00000411543.2_5'Flank|EPN1_ENST00000085079.7_5'Flank			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	472					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TTATCACCGCCGGGACTTCTG	0.632																																																	0			19											34.0	39.0	37.0					19																	56185420		2203	4299	6502	60877232	SO:0001583	missense	11338			BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.1414C>T	19.37:g.56185420C>T	ENSP00000307863:p.Arg472Trp		60877232	Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745599	0.69418	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.12147	2.73;2.71	3.94	1.64	0.23874	.	0.074951	0.53938	U	0.000052	T	0.36608	0.0973	M	0.86502	2.82	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.70935	0.957;0.971	T	0.17715	-1.0360	10	0.72032	D	0.01	-24.1686	9.1308	0.36843	0.1666:0.6725:0.1609:0.0	.	472;468	P26368;P26368-2	U2AF2_HUMAN;.	W	472;468	ENSP00000307863:R472W;ENSP00000388475:R468W	ENSP00000307863:R472W	R	+	1	2	U2AF2	60877232	1.000000	0.71417	0.769000	0.31535	0.625000	0.37756	2.390000	0.44416	0.378000	0.24764	0.478000	0.44815	CGG		0.632	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279	
NLRP9	338321	hgsc.bcm.edu	37	19	56244788	56244788	+	Missense_Mutation	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr19:56244788C>T	ENST00000332836.2	-	2	436	c.409G>A	c.(409-411)Gac>Aac	p.D137N		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	137						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTATATGCGTCATTCAATTCT	0.423																																																	0			19											102.0	101.0	101.0					19																	56244788		2203	4300	6503	60936600	SO:0001583	missense	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.409G>A	19.37:g.56244788C>T	ENSP00000331857:p.Asp137Asn		60936600	B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	3.476	-0.107006	0.06924	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.62788	-0.0	3.31	-1.43	0.08884	.	.	.	.	.	T	0.36663	0.0975	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.20840	-1.0263	9	0.09338	T	0.73	.	3.3459	0.07134	0.0:0.4171:0.2068:0.376	.	137	Q7RTR0	NALP9_HUMAN	N	137	ENSP00000331857:D137N	ENSP00000331857:D137N	D	-	1	0	NLRP9	60936600	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.211000	0.09332	-0.028000	0.13850	-0.232000	0.12228	GAC		0.423	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820	
ZIM3	114026	hgsc.bcm.edu	37	19	57647192	57647192	+	Silent	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr19:57647192G>A	ENST00000269834.1	-	5	898	c.513C>T	c.(511-513)gcC>gcT	p.A171A	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	171					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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTTTCTACAGGCATTACATT	0.378																																																	0			19											147.0	142.0	144.0					19																	57647192		2203	4300	6503	62339004	SO:0001819	synonymous_variant	114026			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.513C>T	19.37:g.57647192G>A			62339004	Q14CA6	Silent	SNP	ENST00000269834.1	37	CCDS33125.1																																																																																				0.378	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1		
ZSCAN1	284312	hgsc.bcm.edu	37	19	58549367	58549367	+	Missense_Mutation	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr19:58549367G>A	ENST00000282326.1	+	3	410	c.163G>A	c.(163-165)Gcg>Acg	p.A55T	ZSCAN1_ENST00000601162.1_Missense_Mutation_p.A55T|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.A55T	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	55	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCCGCACCTCGCGCTGGGCCA	0.706																																																	0			19											14.0	15.0	15.0					19																	58549367		2182	4283	6465	63241179	SO:0001583	missense	284312			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.163G>A	19.37:g.58549367G>A	ENSP00000282326:p.Ala55Thr		63241179	Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567425	0.45694	.	.	ENSG00000152467	ENST00000391700;ENST00000282326	T;T	0.06142	3.34;3.34	1.97	0.863	0.19062	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.17916	0.0430	M	0.76002	2.32	0.09310	N	1	D;P	0.69078	0.997;0.939	D;B	0.67382	0.951;0.315	T	0.08617	-1.0713	9	0.87932	D	0	.	4.3852	0.11312	0.2187:0.0:0.7813:0.0	.	55;55	Q8NBB4;Q8NBB4-2	ZSCA1_HUMAN;.	T	55	ENSP00000375581:A55T;ENSP00000282326:A55T	ENSP00000282326:A55T	A	+	1	0	ZSCAN1	63241179	0.000000	0.05858	0.002000	0.10522	0.067000	0.16453	0.526000	0.22971	0.160000	0.19432	0.205000	0.17691	GCG		0.706	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572	
LZTS1	11178	hgsc.bcm.edu	37	8	20110684	20110684	+	Missense_Mutation	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr8:20110684C>T	ENST00000381569.1	-	3	1115	c.758G>A	c.(757-759)cGc>cAc	p.R253H	LZTS1_ENST00000265801.6_Missense_Mutation_p.R253H|LZTS1_ENST00000522290.1_Missense_Mutation_p.R253H			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	253					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GATGGGGGAGCGGACACACGA	0.622																																																	0			8											68.0	58.0	62.0					8																	20110684		2197	4289	6486	20154964	SO:0001583	missense	11178			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.758G>A	8.37:g.20110684C>T	ENSP00000370981:p.Arg253His		20154964	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368200	0.82463	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.25749	2.1;2.1;1.78	5.78	5.78	0.91487	.	0.160907	0.56097	D	0.000027	T	0.44329	0.1288	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	0.992;1.0	P;D	0.78314	0.781;0.991	T	0.07233	-1.0783	10	0.12430	T	0.62	-31.5626	18.5689	0.91128	0.0:1.0:0.0:0.0	.	253;253	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	H	253	ENSP00000370981:R253H;ENSP00000265801:R253H;ENSP00000429263:R253H	ENSP00000265801:R253H	R	-	2	0	LZTS1	20154964	1.000000	0.71417	0.980000	0.43619	0.752000	0.42762	4.496000	0.60360	2.739000	0.93911	0.561000	0.74099	CGC		0.622	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020	
RP1	6101	hgsc.bcm.edu	37	8	55534077	55534077	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr8:55534077T>C	ENST00000220676.1	+	2	699	c.551T>C	c.(550-552)cTa>cCa	p.L184P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	184	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAGGCATTTCTACAGCACCTG	0.622																																					Colon(91;1014 1389 7634 14542 40420)												0			8											119.0	122.0	121.0					8																	55534077		2203	4300	6503	55696630	SO:0001583	missense	10982			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.551T>C	8.37:g.55534077T>C	ENSP00000220676:p.Leu184Pro		55696630		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.823096	0.71143	.	.	ENSG00000104237	ENST00000220676	D	0.97328	-4.34	5.14	5.14	0.70334	Doublecortin domain (5);	0.000000	0.42548	D	0.000699	D	0.98551	0.9516	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99741	1.1015	10	0.87932	D	0	-6.0059	14.9895	0.71374	0.0:0.0:0.0:1.0	.	184	P56715	RP1_HUMAN	P	184	ENSP00000220676:L184P	ENSP00000220676:L184P	L	+	2	0	RP1	55696630	1.000000	0.71417	0.902000	0.35471	0.391000	0.30476	6.162000	0.71874	1.946000	0.56461	0.528000	0.53228	CTA		0.622	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
UBR5	51366	hgsc.bcm.edu	37	8	103266662	103266662	+	Silent	SNP	T	T	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr8:103266662T>G	ENST00000520539.1	-	59	8874	c.8268A>C	c.(8266-8268)ccA>ccC	p.P2756P	KB-431C1.4_ENST00000520820.1_RNA|KB-431C1.5_ENST00000606361.1_RNA|UBR5_ENST00000521922.1_Silent_p.P2749P|KB-431C1.4_ENST00000499653.1_RNA|UBR5_ENST00000220959.4_Silent_p.P2755P|UBR5_ENST00000518205.1_Silent_p.P484P	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2756	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.|Pro-rich.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GGTCATCTGGTGGTCTTATTG	0.428																																					Ovarian(131;96 1741 5634 7352 27489)												0			8											207.0	187.0	194.0					8																	103266662		2203	4300	6503	103335838	SO:0001819	synonymous_variant	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8268A>C	8.37:g.103266662T>G			103335838	B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	CCDS34933.1																																																																																				0.428	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
CSMD3	114788	hgsc.bcm.edu	37	8	114290849	114290849	+	Silent	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr8:114290849A>G	ENST00000297405.5	-	3	730	c.486T>C	c.(484-486)agT>agC	p.S162S	CSMD3_ENST00000343508.3_Silent_p.S122S|CSMD3_ENST00000352409.3_Silent_p.S162S|CSMD3_ENST00000455883.2_Silent_p.S162S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	162	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCCATGAGCACTAACTGCAA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0			8											123.0	106.0	112.0					8																	114290849		2203	4300	6503	114360025	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.486T>C	8.37:g.114290849A>G			114360025	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
KIF1B	23095	hgsc.bcm.edu	37	1	10431271	10431271	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr1:10431271T>C	ENST00000377086.1	+	45	5099	c.4897T>C	c.(4897-4899)Tcc>Ccc	p.S1633P	KIF1B_ENST00000377081.1_Missense_Mutation_p.S1633P|KIF1B_ENST00000263934.6_Missense_Mutation_p.S1587P			O60333	KIF1B_HUMAN	kinesin family member 1B	1633					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CACTCCCTCCTCCACCTGTCC	0.478																																																	0			1											116.0	105.0	109.0					1																	10431271		2203	4300	6503	10353858	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4897T>C	1.37:g.10431271T>C	ENSP00000366290:p.Ser1633Pro		10353858	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	T	33	5.239646	0.95240	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.12879	2.64;2.64;2.64	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.35248	0.0925	L	0.61218	1.895	0.80722	D	1	P;D;D;D;D;D	0.89917	0.714;0.999;1.0;0.998;0.967;0.981	B;D;D;D;D;D	0.85130	0.263;0.994;0.997;0.995;0.91;0.959	T	0.02214	-1.1194	10	0.42905	T	0.14	.	15.9546	0.79876	0.0:0.0:0.0:1.0	.	1619;1593;1633;1607;1633;1587	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	P	1633;1587;1633;1633	ENSP00000263934:S1587P;ENSP00000366290:S1633P;ENSP00000366284:S1633P	ENSP00000263934:S1587P	S	+	1	0	KIF1B	10353858	1.000000	0.71417	0.987000	0.45799	0.975000	0.68041	7.655000	0.83696	2.227000	0.72691	0.528000	0.53228	TCC		0.478	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		
CYP4A11	1579	hgsc.bcm.edu	37	1	47407091	47407091	+	Silent	SNP	C	C	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr1:47407091C>G	ENST00000310638.4	-	1	46	c.15G>C	c.(13-15)gtG>gtC	p.V5V	CYP4A11_ENST00000371905.1_Silent_p.V5V|CYP4A11_ENST00000371904.4_Silent_p.V5V|CYP4A11_ENST00000462347.1_Silent_p.V5V|CYP4A11_ENST00000457840.2_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	5				V -> A (in Ref. 8; AA sequence). {ECO:0000305}.	arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	TGGGGCTCAGCACAGAGACAC	0.587																																																	0			1											83.0	83.0	83.0					1																	47407091		2203	4300	6503	47179678	SO:0001819	synonymous_variant	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.15G>C	1.37:g.47407091C>G			47179678	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Silent	SNP	ENST00000310638.4	37	CCDS543.1																																																																																				0.587	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778	
USP24	23358	hgsc.bcm.edu	37	1	55613373	55613373	+	Silent	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr1:55613373A>G	ENST00000294383.6	-	18	2066	c.2067T>C	c.(2065-2067)ccT>ccC	p.P689P	USP24_ENST00000407756.1_Silent_p.P529P	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	689					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTAAGCCTCCAGGCCCGGCCA	0.458																																																	0			1											23.0	26.0	25.0					1																	55613373		1931	4148	6079	55385961	SO:0001819	synonymous_variant	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2067T>C	1.37:g.55613373A>G			55385961	Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	CCDS44154.2																																																																																				0.458	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2		
SGIP1	84251	hgsc.bcm.edu	37	1	67109400	67109400	+	Missense_Mutation	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr1:67109400G>A	ENST00000371037.4	+	7	534	c.457G>A	c.(457-459)Gtg>Atg	p.V153M	SGIP1_ENST00000371036.3_Missense_Mutation_p.V128M|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371035.3_Missense_Mutation_p.V110M|SGIP1_ENST00000237247.6_Missense_Mutation_p.V157M|SGIP1_ENST00000371039.1_Missense_Mutation_p.V129M	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	153					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCCATCACCAGTGGTGAGTGT	0.388																																																	0			1											154.0	150.0	151.0					1																	67109400		2203	4300	6503	66881988	SO:0001583	missense	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.457G>A	1.37:g.67109400G>A	ENSP00000360076:p.Val153Met		66881988	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.401276	0.62288	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0;4.0	5.37	5.37	0.77165	.	0.262306	0.38778	N	0.001571	T	0.02848	0.0085	L	0.59436	1.845	0.23806	N	0.996797	B	0.22800	0.075	B	0.17098	0.017	T	0.19778	-1.0295	10	0.44086	T	0.13	-7.801	19.4728	0.94969	0.0:0.0:1.0:0.0	.	153	Q9BQI5	SGIP1_HUMAN	M	157;129;153;110;156;156;128;153	ENSP00000237247:V157M;ENSP00000360078:V129M;ENSP00000410439:V153M;ENSP00000360074:V110M;ENSP00000360075:V128M;ENSP00000360076:V153M	ENSP00000237247:V157M	V	+	1	0	SGIP1	66881988	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	3.479000	0.53165	2.668000	0.90789	0.563000	0.77884	GTG		0.388	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	
PIGK	10026	hgsc.bcm.edu	37	1	77634995	77634995	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr1:77634995C>A	ENST00000370812.3	-	4	348	c.325G>T	c.(325-327)Gaa>Taa	p.E109*	PIGK_ENST00000478391.1_Intron|PIGK_ENST00000370813.5_Intron|PIGK_ENST00000359130.1_Nonsense_Mutation_p.E109*|PIGK_ENST00000445065.1_Intron	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	109					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						ACATTTAGTTCCATATTCTTG	0.348																																																	0			1											112.0	96.0	101.0					1																	77634995		2203	4299	6502	77407583	SO:0001587	stop_gained	10026			AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.325G>T	1.37:g.77634995C>A	ENSP00000359848:p.Glu109*		77407583	B2R7K3|B4E2M3|O14822|Q5TG77	Nonsense_Mutation	SNP	ENST00000370812.3	37	CCDS674.1	.	.	.	.	.	.	.	.	.	.	C	38	7.244242	0.98161	.	.	ENSG00000142892	ENST00000370812;ENST00000359130	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-11.744	19.3214	0.94243	0.0:1.0:0.0:0.0	.	.	.	.	X	109	.	ENSP00000352041:E109X	E	-	1	0	PIGK	77407583	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.350000	0.79385	2.631000	0.89168	0.655000	0.94253	GAA		0.348	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482	
KCNA10	3744	hgsc.bcm.edu	37	1	111060811	111060811	+	Missense_Mutation	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr1:111060811C>T	ENST00000369771.2	-	1	986	c.599G>A	c.(598-600)cGt>cAt	p.R200H		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	200			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.R200H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	CCAGAACTGACGGTGGATGTC	0.547																																																	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	1											120.0	121.0	120.0					1																	111060811		2203	4300	6503	110862334	SO:0001583	missense	3744			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.599G>A	1.37:g.111060811C>T	ENSP00000358786:p.Arg200His		110862334		Missense_Mutation	SNP	ENST00000369771.2	37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071551	0.76301	.	.	ENSG00000143105	ENST00000369771	T	0.67698	-0.28	5.93	5.02	0.67125	.	0.050482	0.64402	D	0.000001	T	0.68467	0.3004	M	0.91872	3.25	0.46458	D	0.999051	D	0.61697	0.99	P	0.47528	0.549	T	0.77302	-0.2638	10	0.87932	D	0	.	10.0313	0.42103	0.0:0.8466:0.0:0.1534	.	200	Q16322	KCA10_HUMAN	H	200	ENSP00000358786:R200H	ENSP00000358786:R200H	R	-	2	0	KCNA10	110862334	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.088000	0.57678	1.510000	0.48803	0.655000	0.94253	CGT		0.547	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549	
NBPF10	100132406	hgsc.bcm.edu	37	1	145323656	145323656	+	Missense_Mutation	SNP	A	A	T	rs75252120	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr1:145323656A>T	ENST00000342960.5	+	27	3528	c.3493A>T	c.(3493-3495)Att>Ttt	p.I1165F	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	752						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.I1165F(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TATTGCAGGAATTAAAAAGGA	0.473																																																	3	Substitution - Missense(3)	endometrium(2)|kidney(1)	1																																								144035013	SO:0001583	missense	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3493A>T	1.37:g.145323656A>T	ENSP00000345684:p.Ile1165Phe		144035013	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	7.524	0.657305	0.14580	.	.	ENSG00000163386	ENST00000342960	T	0.03441	3.93	.	.	.	.	.	.	.	.	T	0.02342	0.0072	M	0.67953	2.075	0.09310	N	1	.	.	.	.	.	.	T	0.44065	-0.9352	5	0.28530	T	0.3	.	.	.	.	.	.	.	.	F	1165	ENSP00000345684:I1165F	ENSP00000345684:I1165F	I	+	1	0	NBPF10	144035013	0.353000	0.24904	0.005000	0.12908	0.123000	0.20343	1.122000	0.31295	0.386000	0.24997	0.128000	0.15822	ATT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
CEP350	9857	hgsc.bcm.edu	37	1	180012241	180012241	+	Silent	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr1:180012241A>G	ENST00000367607.3	+	20	4831	c.4413A>G	c.(4411-4413)ggA>ggG	p.G1471G		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1471					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGGCTTCAGGAGCTCCCCTTG	0.433																																																	0			1											173.0	160.0	164.0					1																	180012241		2203	4300	6503	178278864	SO:0001819	synonymous_variant	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4413A>G	1.37:g.180012241A>G			178278864	O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	4.248	0.044922	0.08196	.	.	ENSG00000135837	ENST00000418229	.	.	.	5.9	4.74	0.60224	.	.	.	.	.	T	0.56292	0.1975	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53129	-0.8482	4	.	.	.	.	6.7619	0.23546	0.69:0.1584:0.0:0.1516	.	.	.	.	G	80	.	.	S	+	1	0	CEP350	178278864	1.000000	0.71417	0.996000	0.52242	0.205000	0.24178	2.601000	0.46249	1.002000	0.39104	0.459000	0.35465	AGC		0.433	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
OBSCN	84033	hgsc.bcm.edu	37	1	228467032	228467032	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr1:228467032A>G	ENST00000422127.1	+	27	7327	c.7283A>G	c.(7282-7284)gAg>gGg	p.E2428G	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.E2857G|OBSCN_ENST00000284548.11_Missense_Mutation_p.E2428G|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.E1275G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2428					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)				GTGGGCCTGGAGCAGGAGGGC	0.677																																																	0			1											58.0	69.0	65.0					1																	228467032		2121	4221	6342	226533655	SO:0001583	missense	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.7283A>G	1.37:g.228467032A>G	ENSP00000409493:p.Glu2428Gly		226533655	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.553876	0.45487	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.43294	0.95;0.95;0.95	4.4	4.4	0.53042	Immunoglobulin-like fold (1);	0.076099	0.50627	D	0.000104	T	0.62122	0.2402	M	0.80183	2.485	0.80722	D	1	B;D;P	0.76494	0.142;0.999;0.454	B;D;B	0.67382	0.043;0.951;0.137	T	0.62469	-0.6848	10	0.23302	T	0.38	.	13.9062	0.63836	1.0:0.0:0.0:0.0	.	2428;2428;2428	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	G	2428;2428;1275;127	ENSP00000284548:E2428G;ENSP00000409493:E2428G;ENSP00000352613:E1275G	ENSP00000284548:E2428G	E	+	2	0	OBSCN	226533655	1.000000	0.71417	0.999000	0.59377	0.633000	0.38033	9.040000	0.93783	1.767000	0.52121	0.454000	0.30748	GAG		0.677	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
UBQLN3	50613	hgsc.bcm.edu	37	11	5530318	5530318	+	Silent	SNP	C	C	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr11:5530318C>A	ENST00000311659.4	-	2	618	c.471G>T	c.(469-471)ctG>ctT	p.L157L	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	157										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)		GCTGCCGCATCAGGGAGCTTG	0.597																																					Ovarian(72;684 1260 12332 41642 52180)												0			11											45.0	42.0	43.0					11																	5530318		2201	4297	6498	5486894	SO:0001819	synonymous_variant	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.471G>T	11.37:g.5530318C>A			5486894	Q9NRE0	Silent	SNP	ENST00000311659.4	37	CCDS7758.1																																																																																				0.597	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481	
LDHA	3939	hgsc.bcm.edu	37	11	18421030	18421030	+	Missense_Mutation	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr11:18421030G>A	ENST00000422447.3	+	3	452	c.179G>A	c.(178-180)gGa>gAa	p.G60E	LDHA_ENST00000227157.4_Missense_Mutation_p.G60E|LDHA_ENST00000379412.5_Missense_Mutation_p.G60E|LDHA_ENST00000396222.2_Missense_Mutation_p.G60E|LDHA_ENST00000540430.1_Missense_Mutation_p.G89E|LDHA_ENST00000430553.2_Missense_Mutation_p.G60E|LDHA_ENST00000542179.1_Missense_Mutation_p.G60E	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	60					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						AAATTGAAGGGAGAGATGATG	0.373																																																	0			11											136.0	126.0	129.0					11																	18421030		2199	4293	6492	18377606	SO:0001583	missense	3939			X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.179G>A	11.37:g.18421030G>A	ENSP00000395337:p.Gly60Glu		18377606	B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	G	33	5.239884	0.95240	.	.	ENSG00000134333	ENST00000422447;ENST00000543445;ENST00000430553;ENST00000396222;ENST00000535451;ENST00000227157;ENST00000478970;ENST00000495052;ENST00000540430;ENST00000379412;ENST00000542179	D;D;D;D;D;D;D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6;-3.6;-3.6;-3.6;-3.6;-3.6;-3.6	5.03	5.03	0.67393	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98667	0.9553	H	0.99391	4.545	0.80722	D	1	D;P;P;D	0.69078	0.997;0.803;0.955;0.994	D;P;P;D	0.69824	0.966;0.539;0.747;0.945	D	0.99239	1.0884	10	0.72032	D	0.01	-4.5663	18.9079	0.92471	0.0:0.0:1.0:0.0	.	89;60;60;60	B7Z5E3;B4DKQ2;F8W819;P00338	.;.;.;LDHA_HUMAN	E	60;60;60;60;60;60;60;60;89;60;60	ENSP00000395337:G60E;ENSP00000440161:G60E;ENSP00000406172:G60E;ENSP00000379524:G60E;ENSP00000444292:G60E;ENSP00000227157:G60E;ENSP00000441241:G60E;ENSP00000446415:G60E;ENSP00000445175:G89E;ENSP00000368722:G60E;ENSP00000445331:G60E	ENSP00000227157:G60E	G	+	2	0	LDHA	18377606	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.490000	0.97952	2.768000	0.95171	0.655000	0.94253	GGA		0.373	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566	
MRGPRX1	259249	hgsc.bcm.edu	37	11	18956124	18956124	+	Missense_Mutation	SNP	C	C	T	rs567589026		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr11:18956124C>T	ENST00000302797.3	-	1	432	c.208G>A	c.(208-210)Gca>Aca	p.A70T	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	70					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGTCTGCTGCGGCCAAGTTG	0.532																																																	0			11											130.0	129.0	130.0					11																	18956124		2194	4285	6479	18912700	SO:0001583	missense	259249				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.208G>A	11.37:g.18956124C>T	ENSP00000305766:p.Ala70Thr		18912700	Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	8.032	0.762028	0.15914	.	.	ENSG00000170255	ENST00000302797	T	0.19938	2.11	2.43	-2.54	0.06307	GPCR, rhodopsin-like superfamily (1);	2.339570	0.01866	N	0.036909	T	0.28995	0.0720	M	0.80422	2.495	0.09310	N	1	P	0.44260	0.83	B	0.42386	0.386	T	0.34976	-0.9807	10	0.52906	T	0.07	.	5.023	0.14370	0.0:0.3685:0.2965:0.335	.	70	Q96LB2	MRGX1_HUMAN	T	70	ENSP00000305766:A70T	ENSP00000305766:A70T	A	-	1	0	MRGPRX1	18912700	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.567000	0.05916	-1.096000	0.03046	-1.579000	0.00862	GCA		0.532	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199	
SLC17A6	57084	hgsc.bcm.edu	37	11	22399217	22399217	+	Silent	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr11:22399217G>A	ENST00000263160.3	+	12	2117	c.1680G>A	c.(1678-1680)aaG>aaA	p.K560K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	560					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GTTGGGAAAAGAAAGAGGAAT	0.368																																																	0			11											43.0	44.0	44.0					11																	22399217		2203	4300	6503	22355793	SO:0001819	synonymous_variant	57084			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1680G>A	11.37:g.22399217G>A			22355793	A6NKS2	Silent	SNP	ENST00000263160.3	37	CCDS7856.1																																																																																				0.368	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346	
WT1	7490	hgsc.bcm.edu	37	11	32456369	32456369	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr11:32456369A>G	ENST00000332351.3	-	1	807	c.523T>C	c.(523-525)Tgt>Cgt	p.C175R	WT1-AS_ENST00000478367.1_RNA|WT1_ENST00000448076.3_Missense_Mutation_p.C175R|WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000395900.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000525436.1_RNA	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	107					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.C107S(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CCGTAGCGACAGGCTCCGGCT	0.687			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																														yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	1	Substitution - Missense(1)	kidney(1)	11											18.0	19.0	19.0					11																	32456369		2198	4290	6488	32412945	SO:0001583	missense	7490	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000332351.3:c.523T>C	11.37:g.32456369A>G	ENSP00000331327:p.Cys175Arg		32412945	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000332351.3	37	CCDS7878.2	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731432	0.69189	.	.	ENSG00000184937	ENST00000332351;ENST00000452863;ENST00000448076	D;D;D	0.89552	-2.53;-2.53;-2.53	3.24	2.09	0.27110	Wilm&apos (1);s tumour protein, N-terminal (1);	0.000000	0.85682	U	0.000000	D	0.90964	0.7159	L	0.54323	1.7	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	D	0.88858	0.3324	10	0.87932	D	0	.	6.9551	0.24565	0.8901:0.0:0.1099:0.0	.	180;107;180	P19544-8;P19544;P19544-7	.;WT1_HUMAN;.	R	175	ENSP00000331327:C175R;ENSP00000415516:C175R;ENSP00000413452:C175R	ENSP00000331327:C175R	C	-	1	0	WT1	32412945	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.834000	0.75339	0.438000	0.26450	0.379000	0.24179	TGT		0.687	WT1-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000095436.2	NM_000378	
OR8U1	219417	hgsc.bcm.edu	37	11	56143360	56143360	+	Silent	SNP	C	C	T	rs79469149	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr11:56143360C>T	ENST00000302270.1	+	1	261	c.261C>T	c.(259-261)taC>taT	p.Y87Y		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					ATTTCTTGTACAAACAAAATG	0.403																																																	0			11											234.0	214.0	220.0					11																	56143360		1982	4171	6153	55899936	SO:0001819	synonymous_variant	219417			AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.261C>T	11.37:g.56143360C>T			55899936		Silent	SNP	ENST00000302270.1	37	CCDS41647.1																																																																																				0.403	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204	
SLC22A24	283238	hgsc.bcm.edu	37	11	62910956	62910956	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr11:62910956A>G	ENST00000417740.1	-	1	737	c.296T>C	c.(295-297)cTt>cCt	p.L99P	SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Missense_Mutation_p.L99P	NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	99					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						GTTCAGGTGAAGGAGCTGCCA	0.562																																																	0			11											89.0	93.0	92.0					11																	62910956		692	1591	2283	62667532	SO:0001583	missense	283238				CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"""Solute carriers"""	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.296T>C	11.37:g.62910956A>G	ENSP00000396586:p.Leu99Pro		62667532		Missense_Mutation	SNP	ENST00000417740.1	37		.	.	.	.	.	.	.	.	.	.	A	14.72	2.619706	0.46736	.	.	ENSG00000197658	ENST00000417740;ENST00000531535;ENST00000326192	T;T	0.35421	1.31;1.31	2.29	2.29	0.28610	.	0.701952	0.11826	U	0.525720	T	0.60130	0.2245	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59021	-0.7532	10	0.49607	T	0.09	.	8.2441	0.31677	1.0:0.0:0.0:0.0	.	99	C9JC66	.	P	99	ENSP00000396586:L99P;ENSP00000321549:L99P	ENSP00000321549:L99P	L	-	2	0	SLC22A24	62667532	0.998000	0.40836	0.818000	0.32626	0.755000	0.42902	4.247000	0.58750	1.081000	0.41110	0.315000	0.21342	CTT		0.562	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000383747.1	NM_173586	
ALDH3B1	221	hgsc.bcm.edu	37	11	67786316	67786316	+	Silent	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr11:67786316T>C	ENST00000539229.1	+	5	461	c.345T>C	c.(343-345)taT>taC	p.Y115Y	ALDH3B1_ENST00000316367.6_Silent_p.Y115Y|ALDH3B1_ENST00000007633.8_Silent_p.Y115Y|ALDH3B1_ENST00000342456.6_Silent_p.Y79Y|ALDH3B1_ENST00000434449.1_3'UTR	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	116					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										CCTGGAACTATCCGCTGAACC	0.667																																																	0			11											23.0	25.0	25.0					11																	67786316		2166	4258	6424	67542892	SO:0001819	synonymous_variant	221			U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.345T>C	11.37:g.67786316T>C			67542892	A3FMP9|Q53XL5|Q8N515|Q96CK8	Missense_Mutation	SNP	ENST00000539229.1	37																																																																																					0.667	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694	
ARAP1	116985	hgsc.bcm.edu	37	11	72437883	72437883	+	Silent	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr11:72437883A>G	ENST00000393609.3	-	3	493	c.291T>C	c.(289-291)acT>acC	p.T97T	ARAP1_ENST00000455638.2_Silent_p.T97T|ARAP1_ENST00000359373.5_Silent_p.T97T	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	97					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCTCGGGTGGAGTGGCAGGCA	0.706																																					Ovarian(102;1198 1520 13195 17913 37529)												0			11											7.0	11.0	9.0					11																	72437883		1947	4029	5976	72115531	SO:0001819	synonymous_variant	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.291T>C	11.37:g.72437883A>G			72115531	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	CCDS41687.1																																																																																				0.706	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118	
CAPN5	726	hgsc.bcm.edu	37	11	76834878	76834878	+	Missense_Mutation	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr11:76834878G>A	ENST00000278559.3	+	13	2074	c.1885G>A	c.(1885-1887)Gtg>Atg	p.V629M	CAPN5_ENST00000456580.2_Missense_Mutation_p.V669M|CAPN5_ENST00000529629.1_Missense_Mutation_p.V629M|CAPN5_ENST00000531028.1_3'UTR	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	629					proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CACTGTGGCCGTGCACATTCT	0.637																																																	0			11											92.0	75.0	81.0					11																	76834878		2200	4292	6492	76512526	SO:0001583	missense	726				CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.1885G>A	11.37:g.76834878G>A	ENSP00000278559:p.Val629Met		76512526	O00263	Missense_Mutation	SNP	ENST00000278559.3	37	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797232	0.70567	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580	D;D;D	0.90197	-2.53;-2.53;-2.63	5.87	4.94	0.65067	.	0.189458	0.46145	D	0.000319	D	0.93022	0.7779	L	0.55481	1.735	0.51482	D	0.999925	D;D;D;D	0.76494	0.994;0.998;0.999;0.994	P;P;P;P	0.62089	0.742;0.898;0.898;0.742	D	0.93184	0.6577	10	0.66056	D	0.02	.	15.319	0.74105	0.0:0.2301:0.7699:0.0	.	667;669;669;629	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	M	629;669;629;669	ENSP00000278559:V629M;ENSP00000432332:V629M;ENSP00000409996:V669M	ENSP00000278559:V629M	V	+	1	0	CAPN5	76512526	0.996000	0.38824	0.154000	0.22540	0.006000	0.05464	2.387000	0.44389	2.780000	0.95670	0.655000	0.94253	GTG		0.637	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055	
ATM	472	hgsc.bcm.edu	37	11	108199840	108199840	+	Silent	SNP	A	A	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr11:108199840A>T	ENST00000452508.2	+	50	7371	c.7182A>T	c.(7180-7182)tcA>tcT	p.S2394S	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Silent_p.S2394S			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2394	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				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)	CCCGGTTTTCAGATACTCAAT	0.378			"""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											75.0	77.0	76.0					11																	108199840		2201	4298	6499	107705050	SO:0001819	synonymous_variant	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.7182A>T	11.37:g.108199840A>T			107705050	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	CCDS31669.1																																																																																				0.378	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	hgsc.bcm.edu	37	11	108216486	108216486	+	Missense_Mutation	SNP	C	C	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr11:108216486C>A	ENST00000452508.2	+	59	8624	c.8435C>A	c.(8434-8436)tCt>tAt	p.S2812Y	C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.S2812Y			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2812	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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.K2810fs*1(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)	CAAAAAAAGTCTTTTGAAGAG	0.269			"""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	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	11											88.0	93.0	91.0					11																	108216486		2200	4298	6498	107721696	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.8435C>A	11.37:g.108216486C>A	ENSP00000388058:p.Ser2812Tyr		107721696	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627613	0.46944	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01787	4.64;4.64	5.56	5.56	0.83823	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.417785	0.26556	N	0.023704	T	0.02012	0.0063	L	0.31120	0.905	0.80722	D	1	B	0.31705	0.336	B	0.33846	0.171	T	0.60167	-0.7316	10	0.52906	T	0.07	.	9.7325	0.40370	0.1489:0.6089:0.2422:0.0	.	2812	Q13315	ATM_HUMAN	Y	2812	ENSP00000278616:S2812Y;ENSP00000388058:S2812Y	ENSP00000278616:S2812Y	S	+	2	0	ATM	107721696	0.998000	0.40836	1.000000	0.80357	0.856000	0.48823	1.388000	0.34442	2.619000	0.88677	0.650000	0.86243	TCT		0.269	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
DLAT	1737	hgsc.bcm.edu	37	11	111896434	111896434	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr11:111896434T>C	ENST00000280346.6	+	1	897	c.238T>C	c.(238-240)Tcg>Ccg	p.S80P	DLAT_ENST00000393051.1_Missense_Mutation_p.S80P|DLAT_ENST00000537636.1_5'UTR	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	80					cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		GCTTTTGGGGTCGCCCGGCCG	0.657																																																	0			11											20.0	23.0	22.0					11																	111896434		2194	4283	6477	111401644	SO:0001583	missense	1737			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.238T>C	11.37:g.111896434T>C	ENSP00000280346:p.Ser80Pro		111401644	Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.229444	0.39399	.	.	ENSG00000150768	ENST00000280346;ENST00000534998;ENST00000393051;ENST00000531306	T;T;T	0.16324	2.35;2.44;2.35	4.85	-2.55	0.06288	.	0.636785	0.14050	N	0.344834	T	0.07999	0.0200	N	0.19112	0.55	0.20489	N	0.999891	P;B	0.45283	0.855;0.412	B;B	0.41571	0.36;0.143	T	0.19712	-1.0297	10	0.52906	T	0.07	2.7444	1.1947	0.01872	0.1288:0.2075:0.2624:0.4013	.	80;80	E9PEJ4;P10515	.;ODP2_HUMAN	P	80;80;80;39	ENSP00000280346:S80P;ENSP00000376771:S80P;ENSP00000433432:S39P	ENSP00000280346:S80P	S	+	1	0	DLAT	111401644	0.000000	0.05858	0.000000	0.03702	0.581000	0.36288	-0.331000	0.07914	-0.047000	0.13423	0.533000	0.62120	TCG		0.657	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931	
HIST1H1B	3009	hgsc.bcm.edu	37	6	27834820	27834820	+	Missense_Mutation	SNP	G	G	T	rs200387249		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr6:27834820G>T	ENST00000331442.3	-	1	539	c.488C>A	c.(487-489)gCg>gAg	p.A163E		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	163					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCCAGCCGCCGCGGGCTTCTT	0.592																																																	0			6											73.0	84.0	80.0					6																	27834820		2202	4300	6502	27942799	SO:0001583	missense	3009			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.488C>A	6.37:g.27834820G>T	ENSP00000330074:p.Ala163Glu		27942799	Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106399	0.56291	.	.	ENSG00000184357	ENST00000331442	T	0.25579	1.79	4.96	4.96	0.65561	.	0.346611	0.28635	N	0.014660	T	0.08447	0.0210	N	0.08118	0	0.80722	D	1	P	0.35923	0.528	B	0.36030	0.216	T	0.17289	-1.0374	10	0.36615	T	0.2	-8.7579	17.6043	0.88034	0.0:0.0:1.0:0.0	.	163	P16401	H15_HUMAN	E	163	ENSP00000330074:A163E	ENSP00000330074:A163E	A	-	2	0	HIST1H1B	27942799	0.992000	0.36948	0.074000	0.20217	0.507000	0.33981	4.773000	0.62331	2.487000	0.83934	0.655000	0.94253	GCG		0.592	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322	
TREM2	54209	hgsc.bcm.edu	37	6	41129105	41129105	+	Missense_Mutation	SNP	G	G	A	rs2234253	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr6:41129105G>A	ENST00000373113.3	-	2	380	c.287C>T	c.(286-288)aCg>aTg	p.T96M	TREM2_ENST00000338469.3_Missense_Mutation_p.T96M|TREM2_ENST00000373122.4_Missense_Mutation_p.T96M	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	96	Ig-like V-type.		T -> K (in dbSNP:rs2234253).|T -> R (in dbSNP:rs2234253).		axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATTCCGCAGCGTAATGGTGAG	0.592																																																	0			6											134.0	121.0	125.0					6																	41129105		2203	4300	6503	41237083	SO:0001583	missense	54209			AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"""Immunoglobulin superfamily / V-set domain containing"""	17761	protein-coding gene	gene with protein product		605086	"""triggering receptor expressed on myeloid cells 2a"""			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.287C>T	6.37:g.41129105G>A	ENSP00000362205:p.Thr96Met		41237083	Q8N5H8|Q8WYN6	Missense_Mutation	SNP	ENST00000373113.3	37	CCDS4852.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205554	0.39003	.	.	ENSG00000095970	ENST00000373113;ENST00000338469;ENST00000373122	T;T;T	0.69685	-0.42;-0.42;-0.42	5.51	5.51	0.81932	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.81375	0.4809	M	0.86178	2.8	0.23661	P	0.99717216	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.84144	0.0419	9	0.87932	D	0	-13.5737	16.5755	0.84635	0.0:0.0:1.0:0.0	.	96;96;96	Q9NZC2-2;Q9NZC2-3;Q9NZC2	.;.;TREM2_HUMAN	M	96	ENSP00000362205:T96M;ENSP00000342651:T96M;ENSP00000362214:T96M	ENSP00000342651:T96M	T	-	2	0	TREM2	41237083	0.996000	0.38824	0.075000	0.20258	0.034000	0.12701	5.140000	0.64807	2.599000	0.87857	0.561000	0.74099	ACG		0.592	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040499.1	NM_018965	
MAP3K4	4216	hgsc.bcm.edu	37	6	161519381	161519381	+	Missense_Mutation	SNP	C	C	T	rs146403419	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr6:161519381C>T	ENST00000392142.4	+	17	3744	c.3596C>T	c.(3595-3597)gCt>gTt	p.A1199V	MAP3K4_ENST00000348824.7_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.A1195V|MAP3K4_ENST00000366919.2_Intron	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1199	Poly-Ala.			Missing (in Ref. 1; AAB68804). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		gctgctgctgctgttgctgcC	0.602													C|||	3	0.000599042	0.0023	0.0	5008	,	,		12144	0.0		0.0	False		,,,				2504	0.0																0			6						-	VAL/ALA,	3,4403	4.2+/-10.8	0,3,2200	96.0	93.0	94.0		3596,	3.0	0.1	6	dbSNP_134	94	0,8600		0,0,4300	yes	missense,intron	MAP3K4	NM_005922.2,NM_006724.2	64,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign,	1199/1609,	161519381	3,13003	2203	4300	6503	161439371	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3596C>T	6.37:g.161519381C>T	ENSP00000375986:p.Ala1199Val		161439371	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	7.803	0.714124	0.15306	6.81E-4	0.0	ENSG00000085511	ENST00000392142;ENST00000366920	T;T	0.71341	-0.56;-0.56	3.04	3.04	0.35103	.	0.581661	0.14365	N	0.324150	T	0.32010	0.0815	N	0.14661	0.345	0.38002	D	0.934254	B;B	0.23249	0.082;0.015	B;B	0.21708	0.036;0.011	T	0.10543	-1.0625	10	0.13470	T	0.59	-3.3456	10.1934	0.43041	0.0:1.0:0.0:0.0	.	1195;1199	F5H538;Q9Y6R4	.;M3K4_HUMAN	V	1199;1195	ENSP00000375986:A1199V;ENSP00000355887:A1195V	ENSP00000355887:A1195V	A	+	2	0	MAP3K4	161439371	0.008000	0.16893	0.115000	0.21578	0.390000	0.30446	0.116000	0.15561	2.093000	0.63338	0.366000	0.22137	GCT		0.602	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
T	6862	hgsc.bcm.edu	37	6	166580264	166580264	+	Missense_Mutation	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr6:166580264G>A	ENST00000296946.2	-	3	755	c.287C>T	c.(286-288)gCg>gTg	p.A96V	T_ENST00000366871.3_Missense_Mutation_p.A96V	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	96					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GTTGTCCGCCGCCACGAAGTC	0.657									Chordoma, Familial Clustering of																																								0			6											60.0	54.0	56.0					6																	166580264		2203	4300	6503	166500254	SO:0001583	missense	6862	Familial Cancer Database		AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.287C>T	6.37:g.166580264G>A	ENSP00000296946:p.Ala96Val		166500254	E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942177	0.92526	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	T;T;T	0.80033	-1.33;-1.33;-1.33	4.62	4.62	0.57501	p53-like transcription factor, DNA-binding (1);	0.187296	0.46758	D	0.000270	T	0.80576	0.4649	M	0.90082	3.085	0.47476	D	0.99943	P;P;P	0.45283	0.727;0.855;0.561	B;B;B	0.39660	0.158;0.306;0.111	D	0.86500	0.1803	10	0.72032	D	0.01	.	16.8408	0.85968	0.0:0.0:1.0:0.0	.	96;96;96	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	V	96	ENSP00000355841:A96V;ENSP00000296946:A96V;ENSP00000355836:A96V	ENSP00000296946:A96V	A	-	2	0	T	166500254	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.095000	0.94175	2.290000	0.77057	0.655000	0.94253	GCG		0.657	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181	
NLRP1	22861	hgsc.bcm.edu	37	17	5462052	5462052	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr17:5462052T>C	ENST00000572272.1	-	4	1963	c.1964A>G	c.(1963-1965)aAg>aGg	p.K655R	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.K655R|NLRP1_ENST00000269280.4_Missense_Mutation_p.K655R|NLRP1_ENST00000262467.5_Missense_Mutation_p.K655R|NLRP1_ENST00000354411.3_Missense_Mutation_p.K655R|NLRP1_ENST00000345221.3_Missense_Mutation_p.K655R			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	655					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTCTAGCGTCTTTTCCAAATC	0.448																																																	0			17											145.0	127.0	133.0					17																	5462052		2203	4300	6503	5402776	SO:0001583	missense	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1964A>G	17.37:g.5462052T>C	ENSP00000460475:p.Lys655Arg		5402776	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	T	7.850	0.723828	0.15439	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.72394	-0.65;-0.65;-0.63;-0.61;-0.63	4.11	-5.56	0.02529	.	1.319690	0.05449	N	0.549209	T	0.49762	0.1576	L	0.37897	1.145	0.09310	N	1	B;B;B;B;B	0.28880	0.2;0.2;0.126;0.2;0.226	B;B;B;B;B	0.30179	0.112;0.112;0.035;0.112;0.063	T	0.37197	-0.9716	10	0.13108	T	0.6	.	0.5195	0.00609	0.4144:0.214:0.15:0.2215	.	655;655;655;655;655	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	R	655	ENSP00000442029:K655R;ENSP00000262467:K655R;ENSP00000269280:K655R;ENSP00000346390:K655R;ENSP00000324366:K655R	ENSP00000262467:K655R	K	-	2	0	NLRP1	5402776	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.006000	0.12833	-1.289000	0.02375	-0.417000	0.06048	AAG		0.448	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
TP53	7157	hgsc.bcm.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	17	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	7517845	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		7517845	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
FLII	2314	hgsc.bcm.edu	37	17	18149086	18149086	+	Missense_Mutation	SNP	C	C	T	rs200966684		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr17:18149086C>T	ENST00000327031.4	-	27	3700	c.3475G>A	c.(3475-3477)Gag>Aag	p.E1159K	FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Missense_Mutation_p.E1148K|FLII_ENST00000545457.2_Missense_Mutation_p.E1104K|FLII_ENST00000379450.4_Missense_Mutation_p.E1073K	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1159					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.E1159K(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TTCATGTACTCGGCATCGTCA	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)	17						C	LYS/GLU	0,4406		0,0,2203	190.0	164.0	173.0		3475	5.7	0.9	17		173	1,8599	1.2+/-3.3	0,1,4299	no	missense	FLII	NM_002018.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1159/1270	18149086	1,13005	2203	4300	6503	18089811	SO:0001583	missense	2314			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3475G>A	17.37:g.18149086C>T	ENSP00000324573:p.Glu1159Lys		18089811	B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	CCDS11192.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	17.26	3.344587	0.61073	0.0	1.16E-4	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T;T	0.37058	1.95;1.22;1.95	5.69	5.69	0.88448	.	0.151487	0.64402	D	0.000019	T	0.39410	0.1077	M	0.68317	2.08	0.80722	D	1	P;P;P;B	0.40230	0.477;0.477;0.708;0.308	B;B;B;B	0.33121	0.085;0.085;0.158;0.048	T	0.41484	-0.9506	10	0.54805	T	0.06	-21.1352	19.7945	0.96474	0.0:1.0:0.0:0.0	.	1073;1073;1159;1128	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	K	1159;1038;1073	ENSP00000324573:E1159K;ENSP00000438536:E1038K;ENSP00000368763:E1073K	ENSP00000324573:E1159K	E	-	1	0	FLII	18089811	1.000000	0.71417	0.946000	0.38457	0.290000	0.27261	7.456000	0.80751	2.690000	0.91761	0.655000	0.94253	GAG		0.587	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018	
SARM1	23098	hgsc.bcm.edu	37	17	26711901	26711901	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr17:26711901A>G	ENST00000457710.3	+	4	1715	c.1244A>G	c.(1243-1245)gAg>gGg	p.E415G	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	449	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CTCACGGAGGAGGAACTCCAG	0.647																																																	0			17											38.0	33.0	35.0					17																	26711901		2178	4242	6420	23736028	SO:0001583	missense	23098			AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"""Sterile alpha motif (SAM) domain containing"""	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1244A>G	17.37:g.26711901A>G	ENSP00000406738:p.Glu415Gly		23736028	O60277|Q7LGG3|Q9NXY5	Silent	SNP	ENST00000457710.3	37		.	.	.	.	.	.	.	.	.	.	A	14.17	2.456767	0.43634	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	4.87	4.87	0.63330	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);Armadillo-type fold (1);	0.063893	0.64402	D	0.000005	T	0.47210	0.1433	.	.	.	0.37841	D	0.929068	B	0.28820	0.224	B	0.28916	0.096	T	0.54682	-0.8257	8	0.62326	D	0.03	-22.7285	7.2179	0.25969	0.7068:0.1496:0.0:0.1436	.	449	Q6SZW1	SARM1_HUMAN	G	447;415	.	ENSP00000003834:E415G	E	+	2	0	SARM1	23736028	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.610000	0.54125	1.803000	0.52742	0.402000	0.26972	GAG		0.647	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000255679.3	NM_015077	
NF1	4763	hgsc.bcm.edu	37	17	29562981	29562981	+	Nonsense_Mutation	SNP	C	C	T	rs376576925		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr17:29562981C>T	ENST00000358273.4	+	29	4299	c.3916C>T	c.(3916-3918)Cga>Tga	p.R1306*	NF1_ENST00000356175.3_Nonsense_Mutation_p.R1306*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1306	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				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.R1306*(5)|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)		TCCTTTATTACGAATTGTGAT	0.363			"""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	17	Whole gene deletion(8)|Substitution - Nonsense(5)|Unknown(4)	soft_tissue(9)|haematopoietic_and_lymphoid_tissue(3)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17	GRCh37	CM981381	NF1	M							140.0	130.0	134.0					17																	29562981		2203	4300	6503	26587107	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.3916C>T	17.37:g.29562981C>T	ENSP00000351015:p.Arg1306*		26587107	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	46	12.668907	0.99687	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.94	2.6	0.31112	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4146	0.74956	0.589:0.411:0.0:0.0	.	.	.	.	X	1306;1306;972	.	ENSP00000348498:R1306X	R	+	1	2	NF1	26587107	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.385000	0.52485	0.763000	0.33175	0.557000	0.71058	CGA		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
NF1	4763	hgsc.bcm.edu	37	17	29662003	29662003	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr17:29662003A>G	ENST00000358273.4	+	40	6343	c.5960A>G	c.(5959-5961)cAg>cGg	p.Q1987R	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.Q1966R|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000417592.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1987					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)	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)		AATGAAAAACAGATGTACCCA	0.358			"""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	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	17											104.0	92.0	96.0					17																	29662003		2203	4300	6503	26686129	SO:0001583	missense	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.5960A>G	17.37:g.29662003A>G	ENSP00000351015:p.Gln1987Arg		26686129	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.870606	0.91587	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;T;D	0.91894	-2.93;-0.12;-2.93	5.54	5.54	0.83059	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.92567	0.7639	N	0.24115	0.695	0.80722	D	1	P;B	0.48294	0.908;0.157	D;B	0.64144	0.922;0.073	D	0.93827	0.7124	10	0.72032	D	0.01	.	15.6824	0.77381	1.0:0.0:0.0:0.0	.	1966;1987	P21359-2;P21359	.;NF1_HUMAN	R	1987;1966;1632	ENSP00000351015:Q1987R;ENSP00000348498:Q1966R;ENSP00000389907:Q1632R	ENSP00000348498:Q1966R	Q	+	2	0	NF1	26686129	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.760000	0.91671	2.117000	0.64856	0.455000	0.32223	CAG		0.358	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
DHX58	79132	hgsc.bcm.edu	37	17	40257861	40257861	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr17:40257861A>G	ENST00000251642.3	-	9	1366	c.1144T>C	c.(1144-1146)Tcc>Ccc	p.S382P		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	382	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGCAGGAGGGAGTGTGCGCTT	0.592																																																	0			17											84.0	83.0	83.0					17																	40257861		2203	4300	6503	37511387	SO:0001583	missense	79132			BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1144T>C	17.37:g.40257861A>G	ENSP00000251642:p.Ser382Pro		37511387	Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.581443	0.46006	.	.	ENSG00000108771	ENST00000251642;ENST00000423748	T	0.43294	0.95	5.17	4.08	0.47627	Helicase, C-terminal (2);	0.136494	0.49305	D	0.000143	T	0.51143	0.1657	M	0.79258	2.445	0.23899	N	0.996521	D;D	0.56035	0.974;0.974	P;P	0.53861	0.736;0.451	T	0.46076	-0.9217	10	0.36615	T	0.2	.	6.4083	0.21676	0.6749:0.1851:0.0:0.14	.	375;382	B7Z455;Q96C10	.;DHX58_HUMAN	P	382;345	ENSP00000251642:S382P	ENSP00000251642:S382P	S	-	1	0	DHX58	37511387	0.999000	0.42202	0.564000	0.28396	0.455000	0.32408	1.328000	0.33758	1.962000	0.57031	0.374000	0.22700	TCC		0.592	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119	
PYY	5697	hgsc.bcm.edu	37	17	42030685	42030685	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr17:42030685A>G	ENST00000360085.2	-	5	707	c.167T>C	c.(166-168)cTc>cCc	p.L56P	PYY_ENST00000592796.1_Missense_Mutation_p.L56P	NM_004160.4	NP_004151	P10082	PYY_HUMAN	peptide YY	56					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|digestion (GO:0007586)|eating behavior (GO:0042755)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(1)|ovary(1)	2		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GACCAGGTTGAGGTAGTGGCG	0.721																																																	0			17											17.0	19.0	18.0					17																	42030685		2201	4298	6499	39386211	SO:0001583	missense	5697				CCDS32662.1	17q21.1	2013-02-28				ENSG00000131096		"""Endogenous ligands"""	9748	protein-coding gene	gene with protein product	"""prepro-PYY"""	600781				7782089	Standard	NM_004160		Approved	PYY1	uc002ieq.3	P10082		ENST00000360085.2:c.167T>C	17.37:g.42030685A>G	ENSP00000353198:p.Leu56Pro		39386211	Q5U5Q6|Q6FGH8	Missense_Mutation	SNP	ENST00000360085.2	37	CCDS32662.1	.	.	.	.	.	.	.	.	.	.	.	27.4	4.824649	0.90955	.	.	ENSG00000131096	ENST00000360085	T	0.50277	0.75	4.64	4.64	0.57946	Pancreatic hormone-like, conserved site (1);	.	.	.	.	T	0.66626	0.2808	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.70673	-0.4807	8	0.87932	D	0	-1.5578	10.4366	0.44439	1.0:0.0:0.0:0.0	.	56	P10082	PYY_HUMAN	P	56	ENSP00000353198:L56P	ENSP00000353198:L56P	L	-	2	0	PYY	39386211	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.187000	0.65087	1.714000	0.51371	0.448000	0.29417	CTC		0.721	PYY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000457658.1	NM_004160	
TEX14	56155	hgsc.bcm.edu	37	17	56688589	56688589	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr17:56688589A>G	ENST00000240361.8	-	10	1220	c.1135T>C	c.(1135-1137)Tcc>Ccc	p.S379P	TEX14_ENST00000389934.3_Missense_Mutation_p.S373P|TEX14_ENST00000349033.5_Missense_Mutation_p.S373P			Q8IWB6	TEX14_HUMAN	testis expressed 14	379	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACAGCATAGGAGCTGAGGGAG	0.537																																																	0			17											162.0	139.0	147.0					17																	56688589		2203	4300	6503	54043588	SO:0001583	missense	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1135T>C	17.37:g.56688589A>G	ENSP00000240361:p.Ser379Pro		54043588	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340380	0.81911	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.30182	1.54;1.54;1.54	5.34	5.34	0.76211	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	T	0.49558	0.1564	L	0.52759	1.655	0.44966	D	0.997983	D;D;D	0.69078	0.997;0.993;0.993	D;D;D	0.78314	0.991;0.985;0.985	T	0.51164	-0.8740	10	0.87932	D	0	-9.8832	14.1467	0.65355	1.0:0.0:0.0:0.0	.	379;373;373	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	P	379;373;373	ENSP00000240361:S379P;ENSP00000374584:S373P;ENSP00000268910:S373P	ENSP00000240361:S379P	S	-	1	0	TEX14	54043588	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.689000	0.74562	2.034000	0.60081	0.379000	0.24179	TCC		0.537	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
ABCA9	10350	hgsc.bcm.edu	37	17	67047246	67047246	+	Missense_Mutation	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr17:67047246C>T	ENST00000340001.4	-	2	233	c.22G>A	c.(22-24)Gtg>Atg	p.V8M	ABCA9_ENST00000370732.2_Missense_Mutation_p.V8M|ABCA9_ENST00000453985.2_Missense_Mutation_p.V8M|ABCA9_ENST00000495634.1_Missense_Mutation_p.V8M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	8					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGCTGACCCACGCTCATGCGT	0.393																																																	0			17											132.0	123.0	126.0					17																	67047246		2203	4300	6503	64558841	SO:0001583	missense	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.22G>A	17.37:g.67047246C>T	ENSP00000342216:p.Val8Met		64558841	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.529110	0.27387	.	.	ENSG00000154258	ENST00000340001;ENST00000370732;ENST00000453749	D;D	0.89875	-2.44;-2.58	5.03	-6.34	0.01982	.	0.870603	0.09346	N	0.814786	D	0.89921	0.6855	M	0.79805	2.47	0.09310	N	1	D;D	0.76494	0.999;0.992	P;P	0.61397	0.888;0.776	T	0.80248	-0.1461	10	0.87932	D	0	.	0.2482	0.00201	0.2346:0.1857:0.2439:0.3359	.	8;8	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	M	8;8;3	ENSP00000342216:V8M;ENSP00000359767:V8M	ENSP00000342216:V8M	V	-	1	0	ABCA9	64558841	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.409000	0.07160	-0.934000	0.03733	0.655000	0.94253	GTG		0.393	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
TNRC6C	57690	hgsc.bcm.edu	37	17	76094557	76094557	+	Silent	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr17:76094557T>C	ENST00000588061.1	+	19	5167	c.4440T>C	c.(4438-4440)aaT>aaC	p.N1480N	TNRC6C_ENST00000544502.1_Silent_p.N1516N|TNRC6C_ENST00000588847.1_Silent_p.N1516N|TNRC6C_ENST00000541771.1_Silent_p.N1480N|TNRC6C_ENST00000301624.4_Silent_p.N1480N|TNRC6C_ENST00000335749.4_Silent_p.N1516N			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1480	Silencing domain; interaction with CNOT1 and PAN3.|Sufficient for translational repression when tethered to a target mRNA.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGTTAACCAATCCCAAGCCCT	0.617																																																	0			17											78.0	84.0	82.0					17																	76094557		1989	4157	6146	73606152	SO:0001819	synonymous_variant	57690			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.4440T>C	17.37:g.76094557T>C			73606152	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	CCDS45798.1																																																																																				0.617	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	
AATK	9625	hgsc.bcm.edu	37	17	79094057	79094057	+	Missense_Mutation	SNP	G	G	A	rs374195702		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr17:79094057G>A	ENST00000326724.4	-	11	3703	c.3679C>T	c.(3679-3681)Cgc>Tgc	p.R1227C	AATK_ENST00000417379.1_Missense_Mutation_p.R1124C	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1227					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TTCTTCTTGCGTTCCAGGTCC	0.682																																																	0			17						G	CYS/ARG,CYS/ARG	0,4228		0,0,2114	29.0	34.0	32.0		3679,3370	4.0	1.0	17		32	1,8449		0,1,4224	no	missense,missense	AATK	NM_001080395.2,NM_004920.2	180,180	0,1,6338	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging,probably-damaging	1227/1375,1124/1272	79094057	1,12677	2114	4225	6339	76708652	SO:0001583	missense	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3679C>T	17.37:g.79094057G>A	ENSP00000324196:p.Arg1227Cys		76708652	O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193269	0.58017	0.0	1.18E-4	ENSG00000181409	ENST00000326724	T	0.12465	2.68	3.98	3.98	0.46160	.	0.205235	0.39407	N	0.001366	T	0.34716	0.0907	M	0.77103	2.36	0.39345	D	0.965657	D	0.89917	1.0	D	0.68621	0.959	T	0.26155	-1.0111	10	0.87932	D	0	.	11.1426	0.48411	0.0:0.0:0.8153:0.1847	.	1227	Q6ZMQ8	LMTK1_HUMAN	C	1227	ENSP00000324196:R1227C	ENSP00000324196:R1227C	R	-	1	0	AATK	76708652	0.999000	0.42202	0.998000	0.56505	0.680000	0.39746	1.856000	0.39389	2.042000	0.60477	0.313000	0.20887	CGC		0.682	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920	
SLC38A10	124565	hgsc.bcm.edu	37	17	79219806	79219806	+	Silent	SNP	A	A	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr17:79219806A>C	ENST00000374759.3	-	16	3293	c.2910T>G	c.(2908-2910)ggT>ggG	p.G970G		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	970					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCTGCTGTCCACCCTGCTCGC	0.687																																																	0			17											23.0	27.0	26.0					17																	79219806		1990	4155	6145	76834401	SO:0001819	synonymous_variant	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2910T>G	17.37:g.79219806A>C			76834401	Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	CCDS42397.1																																																																																				0.687	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570	
PIGP	51227	hgsc.bcm.edu	37	21	38444871	38444871	+	Missense_Mutation	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr21:38444871G>A	ENST00000464265.1	-	1	240	c.17C>T	c.(16-18)aCa>aTa	p.T6I	TTC3_ENST00000355666.1_5'Flank|PIGP_ENST00000360525.4_Intron|PIGP_ENST00000399103.1_Intron|PIGP_ENST00000399098.1_Intron|TTC3_ENST00000540756.1_5'Flank|PIGP_ENST00000399102.1_Intron|TTC3_ENST00000399010.1_5'Flank|PIGP_ENST00000329667.3_5'Flank	NM_153681.2	NP_710148.1	P57054	PIGP_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class P	6					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			kidney(1)|urinary_tract(1)	2		Myeloproliferative disorder(46;0.0412)				CGCCAGCGATGTGCTCCGTGG	0.602																																																	0			21											144.0	145.0	145.0					21																	38444871		2203	4300	6503	37366741	SO:0001583	missense	51227			AB037162	CCDS13649.1, CCDS13650.1	21q22.2	2013-02-26	2006-06-28	2005-11-10	ENSG00000185808	ENSG00000185808	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	3046	protein-coding gene	gene with protein product	"""phosphatidylinositol-n-acetylglucosaminyltranferase subunit"""	605938	"""Down syndrome critical region gene 5"", ""phosphatidylinositol glycan, class P"""	DSCR5		10814524, 15221505	Standard	NR_028352		Approved	DCRC, DSRC	uc002yvw.1	P57054	OTTHUMG00000086653	ENST00000464265.1:c.17C>T	21.37:g.38444871G>A	ENSP00000420037:p.Thr6Ile		37366741	B2RB18|B2RE99|B5BU92|D3DSG7|J3KR75|Q53Y28|Q96KI1|Q9NZA6	Missense_Mutation	SNP	ENST00000464265.1	37	CCDS13649.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685887	0.29962	.	.	ENSG00000185808	ENST00000464265	T	0.22336	1.96	4.9	-8.2	0.01045	.	3.218240	0.00901	N	0.002353	T	0.11836	0.0288	N	0.14661	0.345	0.09310	N	0.999992	B	0.20368	0.044	B	0.15484	0.013	T	0.26121	-1.0112	10	0.72032	D	0.01	12.9914	8.47	0.32980	0.0:0.3292:0.4791:0.1917	.	6	P57054	PIGP_HUMAN	I	6	ENSP00000420037:T6I	ENSP00000420037:T6I	T	-	2	0	PIGP	37366741	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.502000	0.00965	-2.038000	0.00918	-0.457000	0.05445	ACA		0.602	PIGP-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194769.2	NM_153681	
DSCAM	1826	hgsc.bcm.edu	37	21	41385060	41385060	+	Silent	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr21:41385060T>C	ENST00000400454.1	-	33	6417	c.5940A>G	c.(5938-5940)ggA>ggG	p.G1980G		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1980				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TAGCTGCCTGTCCCAGCTCTG	0.582																																					Melanoma(134;970 1778 1785 21664 32388)												0			21											50.0	50.0	50.0					21																	41385060		1957	4152	6109	40306930	SO:0001819	synonymous_variant	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5940A>G	21.37:g.41385060T>C			40306930	O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.582	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
SMG1	23049	hgsc.bcm.edu	37	16	18839377	18839377	+	Silent	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr16:18839377A>G	ENST00000446231.2	-	55	10129	c.9717T>C	c.(9715-9717)atT>atC	p.I3239I	SMG1_ENST00000389467.3_Silent_p.I3240I			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3239			I -> T (in a breast infiltrating ductal carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TAGAAGTTTCAATCTGGCTCA	0.423																																																	0			16											71.0	74.0	73.0					16																	18839377		1922	4121	6043	18746878	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9717T>C	16.37:g.18839377A>G			18746878	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	CCDS45430.1																																																																																				0.423	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
OTOA	146183	hgsc.bcm.edu	37	16	21696609	21696609	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr16:21696609A>G	ENST00000286149.4	+	6	327	c.326A>G	c.(325-327)gAc>gGc	p.D109G	OTOA_ENST00000388958.3_Missense_Mutation_p.D109G|OTOA_ENST00000388956.4_Missense_Mutation_p.D30G			Q7RTW8	OTOAN_HUMAN	otoancorin	109					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTGCTGGAGGACCTGAGGAAG	0.582																																																	0			16											64.0	59.0	60.0					16																	21696609		2199	4300	6499	21604110	SO:0001583	missense	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.326A>G	16.37:g.21696609A>G	ENSP00000286149:p.Asp109Gly		21604110	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37		.	.	.	.	.	.	.	.	.	.	A	20.5	3.994262	0.74703	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	T;T;T	0.12569	2.67;2.67;2.67	5.84	4.73	0.59995	.	0.337294	0.30159	N	0.010266	T	0.18509	0.0444	L	0.60455	1.87	0.80722	D	1	P;P	0.52316	0.908;0.952	B;P	0.45753	0.436;0.492	T	0.00907	-1.1519	10	0.72032	D	0.01	-9.3632	10.4233	0.44363	0.8537:0.0:0.0:0.1463	.	30;109	B3KWU3;E9PF51	.;.	G	109;109;30	ENSP00000373610:D109G;ENSP00000286149:D109G;ENSP00000373608:D30G	ENSP00000286149:D109G	D	+	2	0	OTOA	21604110	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.506000	0.53364	0.996000	0.38943	0.533000	0.62120	GAC		0.582	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		
ABCC12	94160	hgsc.bcm.edu	37	16	48139124	48139124	+	Missense_Mutation	SNP	C	C	T	rs61742619	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr16:48139124C>T	ENST00000311303.3	-	19	2944	c.2599G>A	c.(2599-2601)Gtc>Atc	p.V867I	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.V864I	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	867	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCTTTGGTGACGCCAAACACC	0.547													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		20069	0.0		0.0	False		,,,				2504	0.0																0			16						C	ILE/VAL	5,4397	9.9+/-24.2	0,5,2196	242.0	170.0	194.0		2599	-0.9	0.0	16	dbSNP_129	194	0,8600		0,0,4300	yes	missense	ABCC12	NM_033226.2	29	0,5,6496	TT,TC,CC		0.0,0.1136,0.0385	benign	867/1360	48139124	5,12997	2201	4300	6501	46696625	SO:0001583	missense	94160			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2599G>A	16.37:g.48139124C>T	ENSP00000311030:p.Val867Ile		46696625	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	C	0.007	-1.983659	0.00443	0.001136	0.0	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	D;D	0.91631	-2.62;-2.88	5.21	-0.92	0.10475	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.559617	0.19035	N	0.124457	T	0.67411	0.2890	N	0.03029	-0.43	0.09310	N	0.999999	B	0.06786	0.001	B	0.09377	0.004	T	0.62006	-0.6945	10	0.12430	T	0.62	.	5.6322	0.17516	0.1513:0.4527:0.0:0.396	.	867	Q96J65	MRP9_HUMAN	I	867;864;785	ENSP00000311030:V867I;ENSP00000401855:V864I	ENSP00000311030:V867I	V	-	1	0	ABCC12	46696625	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.045000	0.14013	-0.229000	0.09854	-0.302000	0.09304	GTC		0.547	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	
NOD2	64127	hgsc.bcm.edu	37	16	50733516	50733516	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr16:50733516A>G	ENST00000300589.2	+	2	296	c.191A>G	c.(190-192)gAg>gGg	p.E64G	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	64	CARD 1. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTGTCCTGGGAGGTCCTCTCC	0.627																																																	0			16											56.0	61.0	59.0					16																	50733516		2198	4300	6498	49291017	SO:0001583	missense	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.191A>G	16.37:g.50733516A>G	ENSP00000300589:p.Glu64Gly		49291017	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887214	0.33348	.	.	ENSG00000167207	ENST00000526417;ENST00000531674;ENST00000300589	T;T	0.21031	2.03;2.03	5.34	4.24	0.50183	DEATH-like (2);Caspase Recruitment (3);	0.886526	0.09693	N	0.768130	T	0.14743	0.0356	N	0.20685	0.6	0.31293	N	0.689235	P	0.43938	0.822	B	0.40825	0.341	T	0.08146	-1.0736	10	0.35671	T	0.21	.	7.8228	0.29296	0.9054:0.0:0.0946:0.0	.	64	Q9HC29	NOD2_HUMAN	G	37;37;64	ENSP00000431681:E37G;ENSP00000300589:E64G	ENSP00000300589:E64G	E	+	2	0	NOD2	49291017	0.978000	0.34361	0.931000	0.37212	0.894000	0.52154	2.494000	0.45329	0.874000	0.35823	0.533000	0.62120	GAG		0.627	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162	
CDH8	1006	hgsc.bcm.edu	37	16	61687702	61687702	+	Missense_Mutation	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr16:61687702G>A	ENST00000577390.1	-	12	3164	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	737					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)		TGGCGGGGCCGTGGGATCATT	0.502																																																	0			16											67.0	73.0	71.0					16																	61687702		2203	4300	6503	60245203	SO:0001583	missense	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.2210C>T	16.37:g.61687702G>A	ENSP00000462701:p.Thr737Met		60245203	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949902	0.53186	.	.	ENSG00000150394	ENST00000299345	.	.	.	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.052664	0.85682	D	0.000000	T	0.74390	0.3710	M	0.68728	2.09	0.80722	D	1	P	0.50819	0.939	P	0.55161	0.77	T	0.75314	-0.3361	9	0.56958	D	0.05	.	18.8311	0.92139	0.0:0.0:1.0:0.0	.	737	P55286	CADH8_HUMAN	M	737	.	ENSP00000299345:T737M	T	-	2	0	CDH8	60245203	1.000000	0.71417	0.932000	0.37286	0.979000	0.70002	7.803000	0.85983	2.679000	0.91253	0.655000	0.94253	ACG		0.502	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
IRF8	3394	hgsc.bcm.edu	37	16	85953744	85953744	+	Missense_Mutation	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr16:85953744C>T	ENST00000268638.5	+	8	1440	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	IRF8_ENST00000562492.1_Missense_Mutation_p.R136W	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	340					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CAGCCAGGGCCGGCTTCCTGA	0.587																																																	0			16											59.0	53.0	55.0					16																	85953744		2198	4300	6498	84511245	SO:0001583	missense	3394			M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.1018C>T	16.37:g.85953744C>T	ENSP00000268638:p.Arg340Trp		84511245	A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909429	0.72868	.	.	ENSG00000140968	ENST00000268638	D	0.95447	-3.71	5.15	5.15	0.70609	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.130208	0.53938	D	0.000054	D	0.97090	0.9049	M	0.70595	2.14	0.58432	D	0.999995	D	0.69078	0.997	P	0.61658	0.892	D	0.97562	1.0099	10	0.66056	D	0.02	-40.0654	18.248	0.89993	0.0:1.0:0.0:0.0	.	340	Q02556	IRF8_HUMAN	W	340	ENSP00000268638:R340W	ENSP00000268638:R340W	R	+	1	2	IRF8	84511245	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	4.229000	0.58625	2.397000	0.81536	0.655000	0.94253	CGG		0.587	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163	
TXNDC2	84203	hgsc.bcm.edu	37	18	9887416	9887416	+	Missense_Mutation	SNP	A	A	C	rs2240909		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr18:9887416A>C	ENST00000306084.6	+	2	1139	c.940A>C	c.(940-942)Atc>Ctc	p.I314L	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.I247L	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	314	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		I -> L (in dbSNP:rs2240909).		cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.I247L(2)|p.I314L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GGAGGGTGACATCCCCAAGTC	0.597																																																	3	Substitution - Missense(3)	kidney(2)|skin(1)	18											121.0	118.0	119.0					18																	9887416		2203	4299	6502	9877416	SO:0001583	missense	84203			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.940A>C	18.37:g.9887416A>C	ENSP00000304908:p.Ile314Leu		9877416	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	-	10.84	1.464454	0.26335	.	.	ENSG00000168454	ENST00000357775;ENST00000306084	T;T	0.16324	2.35;2.35	4.52	-1.32	0.09201	.	0.746371	0.11489	N	0.558962	T	0.12263	0.0298	L	0.49778	1.585	0.09310	N	1	B	0.26547	0.152	B	0.29440	0.102	T	0.34502	-0.9826	9	.	.	.	0.3059	1.0808	0.01642	0.4266:0.1509:0.2759:0.1465	rs2240909;rs2240909	314	Q86VQ3	TXND2_HUMAN	L	247;314	ENSP00000350419:I247L;ENSP00000304908:I314L	.	I	+	1	0	TXNDC2	9877416	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.727000	0.04931	0.021000	0.15133	0.529000	0.55759	ATC		0.597	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1		
SMAD4	4089	hgsc.bcm.edu	37	18	48575211	48575211	+	Silent	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr18:48575211A>G	ENST00000342988.3	+	3	943	c.405A>G	c.(403-405)cgA>cgG	p.R135R	SMAD4_ENST00000452201.2_Silent_p.R135R|SMAD4_ENST00000588745.1_Silent_p.R135R|SMAD4_ENST00000398417.2_Silent_p.R135R|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	135	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ACTACGAACGAGTTGTATCAC	0.318																																																	40	Whole gene deletion(36)|Unknown(4)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)	18											122.0	110.0	114.0					18																	48575211		2203	4300	6503	46829209	SO:0001819	synonymous_variant	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.405A>G	18.37:g.48575211A>G			46829209	A8K405	Silent	SNP	ENST00000342988.3	37	CCDS11950.1																																																																																				0.318	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
SMAD4	4089	hgsc.bcm.edu	37	18	48591809	48591809	+	Silent	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr18:48591809T>C	ENST00000342988.3	+	9	1510	c.972T>C	c.(970-972)tgT>tgC	p.C324C	SMAD4_ENST00000588745.1_Silent_p.C228C|SMAD4_ENST00000398417.2_Silent_p.C324C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	324	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.W323fs*11(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGTATTGGTGTTCCATTGCTT	0.413																																																	39	Whole gene deletion(36)|Unknown(2)|Deletion - Frameshift(1)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|small_intestine(1)|oesophagus(1)	18											248.0	214.0	225.0					18																	48591809		2203	4300	6503	46845807	SO:0001819	synonymous_variant	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.972T>C	18.37:g.48591809T>C			46845807	A8K405	Silent	SNP	ENST00000342988.3	37	CCDS11950.1																																																																																				0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266167	41266167	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:41266167A>G	ENST00000349496.5	+	3	444	c.164A>G	c.(163-165)gAg>gGg	p.E55G	CTNNB1_ENST00000405570.1_Missense_Mutation_p.E55G|CTNNB1_ENST00000396183.3_Missense_Mutation_p.E55G|CTNNB1_ENST00000453024.1_Missense_Mutation_p.E48G|CTNNB1_ENST00000396185.3_Missense_Mutation_p.E55G	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	55					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.Q28_Q61del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.E55G(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(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)		CCTGAGGAAGAGGATGTGGAT	0.468		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"""	110	Deletion - In frame(87)|Complex - deletion inframe(15)|Unknown(7)|Substitution - Missense(1)	liver(80)|large_intestine(16)|stomach(8)|small_intestine(2)|skin(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)	3											73.0	67.0	69.0					3																	41266167		2203	4300	6503	41241171	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.164A>G	3.37:g.41266167A>G	ENSP00000344456:p.Glu55Gly		41241171	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019915	0.35606	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.91	5.91	0.95273	.	0.090529	0.85682	D	0.000000	T	0.34948	0.0915	N	0.14661	0.345	0.58432	D	0.999999	B	0.18968	0.032	B	0.22753	0.041	T	0.10683	-1.0619	10	0.40728	T	0.16	-12.7154	16.3453	0.83126	1.0:0.0:0.0:0.0	.	55	P35222	CTNB1_HUMAN	G	48;55;55;55;55;48;55;55;55	ENSP00000400508:E48G;ENSP00000385604:E55G;ENSP00000412219:E55G;ENSP00000379486:E55G;ENSP00000344456:E55G;ENSP00000411226:E48G;ENSP00000379488:E55G;ENSP00000409302:E55G;ENSP00000401599:E55G	ENSP00000344456:E55G	E	+	2	0	CTNNB1	41241171	1.000000	0.71417	0.975000	0.42487	0.996000	0.88848	7.576000	0.82467	2.261000	0.74972	0.533000	0.62120	GAG		0.468	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266878	41266878	+	Silent	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:41266878T>C	ENST00000349496.5	+	5	829	c.549T>C	c.(547-549)gcT>gcC	p.A183A	CTNNB1_ENST00000405570.1_Silent_p.A183A|CTNNB1_ENST00000396183.3_Silent_p.A183A|CTNNB1_ENST00000453024.1_Silent_p.A176A|CTNNB1_ENST00000396185.3_Silent_p.A183A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	183					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)		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)		AAAAGGAAGCTTCCAGACACG	0.428		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"""	0			3											70.0	71.0	71.0					3																	41266878		2203	4300	6503	41241882	SO:0001819	synonymous_variant	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.549T>C	3.37:g.41266878T>C			41241882	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Silent	SNP	ENST00000349496.5	37	CCDS2694.1																																																																																				0.428	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
ITIH3	3699	hgsc.bcm.edu	37	3	52830591	52830591	+	Missense_Mutation	SNP	G	G	A	rs192350744		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:52830591G>A	ENST00000449956.2	+	3	215	c.209G>A	c.(208-210)cGt>cAt	p.R70H	ITIH3_ENST00000416872.2_Missense_Mutation_p.R70H	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	70	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				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)		GCCGTCAACCGTGCAGACACG	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		21786	0.001		0.0	False		,,,				2504	0.0																0			3						G	HIS/ARG	1,4249		0,1,2124	77.0	84.0	81.0		209	1.7	0.2	3		81	0,8536		0,0,4268	no	missense	ITIH3	NM_002217.3	29	0,1,6392	AA,AG,GG		0.0,0.0235,0.0078	benign	70/891	52830591	1,12785	2125	4268	6393	52805631	SO:0001583	missense	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.209G>A	3.37:g.52830591G>A	ENSP00000415769:p.Arg70His		52805631	Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	CCDS46845.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	5.978	0.364374	0.11296	2.35E-4	0.0	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.24151	1.87;1.87	4.54	1.68	0.24146	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.276116	0.36268	N	0.002689	T	0.20088	0.0483	L	0.56124	1.755	0.21675	N	0.999599	B;B	0.19200	0.008;0.034	B;B	0.16289	0.008;0.015	T	0.17077	-1.0381	10	0.39692	T	0.17	-5.6454	5.3115	0.15833	0.1941:0.1659:0.6399:0.0	.	70;70	E7ET33;Q06033	.;ITIH3_HUMAN	H	70;70;65;70;70	ENSP00000413922:R70H;ENSP00000415769:R70H	ENSP00000273291:R65H	R	+	2	0	ITIH3	52805631	0.012000	0.17670	0.235000	0.24058	0.209000	0.24338	0.816000	0.27267	0.157000	0.19338	-0.194000	0.12790	CGT		0.542	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217	
ZNF717	100131827	hgsc.bcm.edu	37	3	75786618	75786618	+	Missense_Mutation	SNP	C	C	A	rs140085908		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:75786618C>A	ENST00000478296.1	-	4	2282	c.2006G>T	c.(2005-2007)aGa>aTa	p.R669I	MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000422325.1_Missense_Mutation_p.R719I|ZNF717_ENST00000400845.3_Missense_Mutation_p.R712I|ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron			Q9BY31	ZN717_HUMAN	zinc finger protein 717	709					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						CTTGATGCTTCTGAAGATTTG	0.403																																																	0			3											17.0	16.0	16.0					3																	75786618		651	1492	2143	75869308	SO:0001583	missense	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.2006G>T	3.37:g.75786618C>A	ENSP00000419377:p.Arg669Ile		75869308		Missense_Mutation	SNP	ENST00000478296.1	37		.	.	.	.	.	.	.	.	.	.	.	0.932	-0.712466	0.03206	.	.	ENSG00000227124	ENST00000478296;ENST00000422325;ENST00000400845	T;T;T	0.06608	3.28;3.43;3.43	1.61	-3.21	0.05140	.	.	.	.	.	T	0.02455	0.0075	N	0.12746	0.255	0.09310	N	1	B	0.21147	0.052	B	0.17098	0.017	T	0.44967	-0.9293	9	0.07644	T	0.81	.	3.1551	0.06502	0.2956:0.212:0.0:0.4923	rs2224824	719	C9JSV9	.	I	669;719;712	ENSP00000419377:R669I;ENSP00000409514:R719I;ENSP00000383643:R712I	ENSP00000383643:R712I	R	-	2	0	ZNF717	75869308	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.511000	0.02260	-1.685000	0.01441	-0.281000	0.10026	AGA		0.403	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223	
EPHA3	2042	hgsc.bcm.edu	37	3	89259543	89259543	+	Silent	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:89259543T>C	ENST00000336596.2	+	3	912	c.687T>C	c.(685-687)tcT>tcC	p.S229S	EPHA3_ENST00000494014.1_Silent_p.S229S|EPHA3_ENST00000452448.2_Silent_p.S229S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	229	Cys-rich.		S -> Y (in a lung large cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTAGAGGGTCTTGTGTCAACA	0.483										TSP Lung(6;0.00050)																																							0			3											157.0	150.0	152.0					3																	89259543		2203	4300	6503	89342233	SO:0001819	synonymous_variant	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.687T>C	3.37:g.89259543T>C			89342233	Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	CCDS2922.1																																																																																				0.483	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
OR5H15	403274	hgsc.bcm.edu	37	3	97888302	97888302	+	Silent	SNP	C	C	A	rs115424559	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:97888302C>A	ENST00000356526.2	+	1	759	c.759C>A	c.(757-759)ggC>ggA	p.G253G		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TATACTATGGCCCCCTTCTCT	0.433													C|||	51	0.0101837	0.0008	0.0043	5008	,	,		15699	0.0		0.0427	False		,,,				2504	0.0041																0			3						C		31,4373		1,29,2172	96.0	100.0	98.0		759	-2.5	0.1	3	dbSNP_132	98	212,8388		3,206,4091	no	coding-synonymous	OR5H15	NM_001005515.1		4,235,6263	AA,AC,CC		2.4651,0.7039,1.8687		253/314	97888302	243,12761	2202	4300	6502	99370992	SO:0001819	synonymous_variant	403274				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.759C>A	3.37:g.97888302C>A			99370992		Silent	SNP	ENST00000356526.2	37	CCDS33799.1																																																																																				0.433	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1		
OR5H6	79295	hgsc.bcm.edu	37	3	97983497	97983497	+	Silent	SNP	T	T	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:97983497T>A	ENST00000383696.2	+	1	410	c.369T>A	c.(367-369)acT>acA	p.T123T	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTGTAACCACTGTAACCACAG	0.383																																																	0			3											103.0	83.0	89.0					3																	97983497		2203	4294	6497	99466187	SO:0001819	synonymous_variant	79295			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.369T>A	3.37:g.97983497T>A			99466187	Q6IF88	Silent	SNP	ENST00000383696.2	37	CCDS33800.1																																																																																				0.383	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2		
C3orf52	79669	hgsc.bcm.edu	37	3	111805273	111805273	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:111805273T>C	ENST00000264848.5	+	1	78	c.19T>C	c.(19-21)Tca>Cca	p.S7P	C3orf52_ENST00000430855.1_Missense_Mutation_p.S7P|C3orf52_ENST00000431717.2_Missense_Mutation_p.S7P	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52	7						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						GGCCCAACCCTCACAGCCAGT	0.652																																																	0			3											49.0	52.0	51.0					3																	111805273		692	1591	2283	113287963	SO:0001583	missense	79669			AY830714	CCDS46887.1, CCDS54620.1	3q13.2	2006-01-30			ENSG00000114529	ENSG00000114529			26255	protein-coding gene	gene with protein product	"""TPA induced trans-membrane protein"""	611956				15737651	Standard	NM_024616		Approved	FLJ23186, TTMP	uc011bhs.2	Q5BVD1	OTTHUMG00000159230	ENST00000264848.5:c.19T>C	3.37:g.111805273T>C	ENSP00000264848:p.Ser7Pro		113287963	B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1	Missense_Mutation	SNP	ENST00000264848.5	37	CCDS46887.1	.	.	.	.	.	.	.	.	.	.	T	1.957	-0.439802	0.04636	.	.	ENSG00000114529	ENST00000430855;ENST00000431717;ENST00000264848	T;T;T	0.30981	1.53;1.51;1.97	4.07	2.27	0.28462	.	0.620541	0.15155	N	0.277494	T	0.07638	0.0192	N	0.01109	-1.01	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.37865	-0.9687	10	0.02654	T	1	-4.112	6.1666	0.20394	0.0:0.7701:0.0:0.2299	.	7;7;7	Q5BVD1-2;Q5BVD1-3;Q5BVD1	.;.;TTMP_HUMAN	P	7	ENSP00000390333:S7P;ENSP00000399392:S7P;ENSP00000264848:S7P	ENSP00000264848:S7P	S	+	1	0	C3orf52	113287963	0.000000	0.05858	0.019000	0.16419	0.003000	0.03518	-0.559000	0.05971	0.681000	0.31386	-0.534000	0.04291	TCA		0.652	C3orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353961.1	NM_024616	
KIAA2018	205717	hgsc.bcm.edu	37	3	113376113	113376113	+	Silent	SNP	C	C	T	rs62265537|rs59601191|rs112313093|rs59990801|rs397990842|rs10606566		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:113376113C>T	ENST00000478658.1	-	5	4433	c.4416G>A	c.(4414-4416)caG>caA	p.Q1472Q	KIAA2018_ENST00000316407.4_Silent_p.Q1472Q|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1472	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gttgctgttgctgctgctgct	0.502																																																	0			3											68.0	71.0	70.0					3																	113376113		2188	4274	6462	114858803	SO:0001819	synonymous_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4416G>A	3.37:g.113376113C>T			114858803	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	CCDS43133.1																																																																																				0.502	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899	
MBD4	8930	hgsc.bcm.edu	37	3	129152970	129152970	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:129152970A>G	ENST00000249910.1	-	4	1386	c.1211T>C	c.(1210-1212)aTc>aCc	p.I404T	MBD4_ENST00000507208.1_Missense_Mutation_p.I404T|MBD4_ENST00000393278.2_Missense_Mutation_p.I86T|MBD4_ENST00000509587.1_5'UTR|MBD4_ENST00000429544.2_Missense_Mutation_p.I398T|MBD4_ENST00000503197.1_Missense_Mutation_p.I404T	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	404					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TGTTCGTGGGATGGTATCTTC	0.333								Base excision repair (BER), DNA glycosylases																																									0			3											142.0	139.0	140.0					3																	129152970		2203	4300	6503	130635660	SO:0001583	missense	8930			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1211T>C	3.37:g.129152970A>G	ENSP00000249910:p.Ile404Thr		130635660	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.235343	0.39498	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000393278;ENST00000507208	D;D;D;T;D	0.94184	-3.26;-3.16;-3.37;1.03;-3.36	5.57	4.41	0.53225	.	1.033840	0.07554	N	0.915929	D	0.93074	0.7795	M	0.62723	1.935	0.35672	D	0.813367	P;P;P;P;P	0.46142	0.799;0.488;0.763;0.873;0.651	B;B;B;P;B	0.44990	0.276;0.108;0.242;0.466;0.122	D	0.87789	0.2617	10	0.39692	T	0.17	-0.343	10.9443	0.47292	0.9263:0.0:0.0737:0.0	.	404;86;398;404;404	E9PEE4;Q2MD36;O95243-2;O95243-3;O95243	.;.;.;.;MBD4_HUMAN	T	398;404;404;86;404	ENSP00000394080:I398T;ENSP00000249910:I404T;ENSP00000424873:I404T;ENSP00000376959:I86T;ENSP00000422327:I404T	ENSP00000249910:I404T	I	-	2	0	MBD4	130635660	0.806000	0.28996	0.574000	0.28523	0.984000	0.73092	1.082000	0.30803	0.966000	0.38159	0.529000	0.55759	ATC		0.333	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925	
TRIM42	287015	hgsc.bcm.edu	37	3	140409973	140409973	+	Missense_Mutation	SNP	A	A	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:140409973A>T	ENST00000286349.3	+	4	2215	c.2024A>T	c.(2023-2025)tAc>tTc	p.Y675F		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	675	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AACACAGAATACGTGTTTAAA	0.423																																																	0			3											153.0	148.0	150.0					3																	140409973		2203	4300	6503	141892663	SO:0001583	missense	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.2024A>T	3.37:g.140409973A>T	ENSP00000286349:p.Tyr675Phe		141892663	A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214740	0.79352	.	.	ENSG00000155890	ENST00000286349	D	0.88664	-2.41	5.65	5.65	0.86999	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000037	D	0.89763	0.6809	N	0.24115	0.695	0.33734	D	0.61862	D	0.69078	0.997	D	0.80764	0.994	D	0.92936	0.6368	10	0.87932	D	0	-11.3208	12.2736	0.54721	1.0:0.0:0.0:0.0	.	675	Q8IWZ5	TRI42_HUMAN	F	675	ENSP00000286349:Y675F	ENSP00000286349:Y675F	Y	+	2	0	TRIM42	141892663	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	5.754000	0.68743	2.158000	0.67659	0.528000	0.53228	TAC		0.423	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616	
ATR	545	hgsc.bcm.edu	37	3	142176490	142176490	+	Silent	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:142176490T>C	ENST00000350721.4	-	45	7732	c.7611A>G	c.(7609-7611)gaA>gaG	p.E2537E	ATR_ENST00000383101.3_Silent_p.E2473E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2537	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		E -> Q (in a breast infiltrating ductal carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCATTGTAACTTCACATGCTC	0.393								Other conserved DNA damage response genes																																									0			3											106.0	99.0	101.0					3																	142176490		2203	4300	6503	143659180	SO:0001819	synonymous_variant	390502			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7611A>G	3.37:g.142176490T>C			143659180	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	9.425	1.084057	0.20309	.	.	ENSG00000175054	ENST00000513291	.	.	.	5.2	4.04	0.47022	.	.	.	.	.	T	0.60971	0.2310	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59139	-0.7510	4	.	.	.	-20.4584	10.6321	0.45543	0.0:0.0757:0.0:0.9243	.	.	.	.	G	384	.	.	S	-	1	0	ATR	143659180	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.788000	0.55446	2.102000	0.63906	0.397000	0.26171	AGT		0.393	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
PIK3CA	5290	hgsc.bcm.edu	37	3	178922365	178922365	+	Silent	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:178922365T>C	ENST00000263967.3	+	6	1291	c.1134T>C	c.(1132-1134)tgT>tgC	p.C378C		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	378	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		C -> Y (in MCAP). {ECO:0000269|PubMed:22729224}.		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)			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)	GAGTACCTTGTTCCAATCCCA	0.333		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"""	0			3											188.0	149.0	161.0					3																	178922365		1836	4093	5929	180405059	SO:0001819	synonymous_variant	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.1134T>C	3.37:g.178922365T>C			180405059	Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	CCDS43171.1																																																																																				0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178951890	178951890	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:178951890A>G	ENST00000263967.3	+	21	3102	c.2945A>G	c.(2944-2946)gAg>gGg	p.E982G	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	982	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.E982G(1)		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)	AGGTTTCAGGAGATGTGTTAC	0.378		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"""	1	Substitution - Missense(1)	thyroid(1)	3											116.0	106.0	109.0					3																	178951890		1859	4091	5950	180434584	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.2945A>G	3.37:g.178951890A>G	ENSP00000263967:p.Glu982Gly		180434584	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702741	0.48307	.	.	ENSG00000121879	ENST00000263967	T	0.78003	-1.14	6.07	6.07	0.98685	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.74943	0.3783	L	0.59436	1.845	0.80722	D	1	P	0.36086	0.536	B	0.34873	0.191	T	0.73500	-0.3963	10	0.32370	T	0.25	-16.0253	16.635	0.85050	1.0:0.0:0.0:0.0	.	982	P42336	PK3CA_HUMAN	G	982	ENSP00000263967:E982G	ENSP00000263967:E982G	E	+	2	0	PIK3CA	180434584	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.859000	0.92264	2.330000	0.79161	0.477000	0.44152	GAG		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
EHHADH	1962	hgsc.bcm.edu	37	3	184910848	184910848	+	Silent	SNP	A	A	G	rs200718927		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:184910848A>G	ENST00000231887.3	-	7	1413	c.1338T>C	c.(1336-1338)atT>atC	p.I446I	EHHADH-AS1_ENST00000417720.1_RNA|EHHADH_ENST00000456310.1_Silent_p.I350I	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	446	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			ATTGGCTGGGAATAACCTCTA	0.423																																																	0			3											98.0	100.0	100.0					3																	184910848		2203	4300	6503	186393542	SO:0001819	synonymous_variant	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1338T>C	3.37:g.184910848A>G			186393542	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Silent	SNP	ENST00000231887.3	37	CCDS33901.1																																																																																				0.423	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1		
RFC4	5984	hgsc.bcm.edu	37	3	186507806	186507806	+	Silent	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:186507806G>A	ENST00000392481.2	-	11	1325	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L	RFC4_ENST00000433496.1_Silent_p.L321L|SNORA4_ENST00000584302.1_RNA|RFC4_ENST00000296273.2_Silent_p.L348L|SNORA63_ENST00000363450.1_RNA	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	348					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		AAAGGCTGATGAGTTGCAAAT	0.358																																																	0			3											88.0	84.0	85.0					3																	186507806		2203	4300	6503	187990500	SO:0001819	synonymous_variant	5984				CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.1044C>T	3.37:g.186507806G>A			187990500	B4DM41|D3DNV2|Q6FHX7	Silent	SNP	ENST00000392481.2	37	CCDS3283.1																																																																																				0.358	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916	
TNK2	10188	hgsc.bcm.edu	37	3	195611887	195611887	+	Silent	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:195611887T>C	ENST00000333602.6	-	4	869	c.252A>G	c.(250-252)cgA>cgG	p.R84R	TNK2_ENST00000316664.3_Silent_p.R84R|TNK2_ENST00000392400.1_Silent_p.R84R|TNK2_ENST00000428187.1_Silent_p.R116R|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000381916.2_Silent_p.R147R	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	84	SAM-like domain.				cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CAGCCTCCAGTCGCTTTCCAC	0.652																																																	0			3											47.0	42.0	44.0					3																	195611887		2203	4300	6503	197096284	SO:0001819	synonymous_variant	10188			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.252A>G	3.37:g.195611887T>C			197096284	Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	CCDS33928.1																																																																																				0.652	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781	
ATF7IP	55729	hgsc.bcm.edu	37	12	14577964	14577964	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr12:14577964A>G	ENST00000540793.1	+	1	1270	c.1115A>G	c.(1114-1116)gAg>gGg	p.E372G	ATF7IP_ENST00000261168.4_Missense_Mutation_p.E372G|ATF7IP_ENST00000544627.1_Missense_Mutation_p.E380G|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.E372G|ATF7IP_ENST00000543189.1_Missense_Mutation_p.E372G			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	372	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AAGAAGGTAGAGGAAGATATT	0.343																																																	0			12											80.0	88.0	85.0					12																	14577964		2202	4300	6502	14469231	SO:0001583	missense	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1115A>G	12.37:g.14577964A>G	ENSP00000444589:p.Glu372Gly		14469231	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	A	6.373	0.436874	0.12104	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.26957	2.06;2.05;2.06;2.06;1.7;2.06	4.93	2.51	0.30379	.	0.578922	0.16345	N	0.218463	T	0.17152	0.0412	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.14438	0.002;0.01;0.001;0.001;0.001	B;B;B;B;B	0.14023	0.004;0.01;0.003;0.003;0.004	T	0.22521	-1.0214	10	0.27785	T	0.31	-0.6014	5.7635	0.18213	0.5919:0.2637:0.1444:0.0	.	380;372;372;372;372	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2	.;.;.;MCAF1_HUMAN;.	G	372;372;372;380;372;372	ENSP00000261168:E372G;ENSP00000443179:E372G;ENSP00000445955:E372G;ENSP00000440440:E380G;ENSP00000379575:E372G;ENSP00000444589:E372G	ENSP00000261168:E372G	E	+	2	0	ATF7IP	14469231	0.549000	0.26481	0.058000	0.19502	0.712000	0.41017	0.714000	0.25808	0.418000	0.25898	0.482000	0.46254	GAG		0.343	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	
KRAS	3845	hgsc.bcm.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	12											91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val		25289551	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
PDZRN4	29951	hgsc.bcm.edu	37	12	41957421	41957421	+	Silent	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr12:41957421C>T	ENST00000402685.2	+	8	1445	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	PDZRN4_ENST00000298919.7_Silent_p.I219I|PDZRN4_ENST00000539469.2_Silent_p.I221I	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	479	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GTAAGAGAATCGTGCTGCTTG	0.413																																																	0			12											125.0	116.0	119.0					12																	41957421		2203	4300	6503	40243688	SO:0001819	synonymous_variant	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1437C>T	12.37:g.41957421C>T			40243688	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	ENST00000402685.2	37	CCDS53777.1																																																																																				0.413	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377	
SLC38A2	54407	hgsc.bcm.edu	37	12	46757532	46757532	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr12:46757532A>G	ENST00000256689.5	-	12	1475	c.1031T>C	c.(1030-1032)cTc>cCc	p.L344P	SLC38A2_ENST00000547252.1_5'Flank|SLC38A2_ENST00000551374.1_Missense_Mutation_p.L182P	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	344					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GTATCCAAAGAGGGCGGCAAG	0.358																																					Ovarian(9;448 492 8335 28722 40361)												0			12											99.0	97.0	98.0					12																	46757532		2203	4298	6501	45043799	SO:0001583	missense	54407			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.1031T>C	12.37:g.46757532A>G	ENSP00000256689:p.Leu344Pro		45043799	Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	ENST00000256689.5	37	CCDS8749.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.787539	0.90367	.	.	ENSG00000134294	ENST00000256689;ENST00000551374	T;T	0.03065	4.06;4.06	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	M	0.91038	3.17	0.80722	D	1	D;D;D	0.76494	0.991;0.999;0.996	D;D;D	0.78314	0.944;0.991;0.961	T	0.08269	-1.0730	10	0.72032	D	0.01	-11.6708	15.7363	0.77846	1.0:0.0:0.0:0.0	.	182;244;344	F8VQW8;Q96QD8-2;Q96QD8	.;.;S38A2_HUMAN	P	344;182	ENSP00000256689:L344P;ENSP00000450406:L182P	ENSP00000256689:L344P	L	-	2	0	SLC38A2	45043799	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.226000	0.95229	2.189000	0.69895	0.460000	0.39030	CTC		0.358	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1		
KMT2D	8085	hgsc.bcm.edu	37	12	49421885	49421885	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr12:49421885T>C	ENST00000301067.7	-	46	14421	c.14422A>G	c.(14422-14424)Agc>Ggc	p.S4808G		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4808					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATCTTCATGCTCAGCAGCTCC	0.592																																																	0			12											45.0	49.0	48.0					12																	49421885		2145	4240	6385	47708152	SO:0001583	missense	9757			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14422A>G	12.37:g.49421885T>C	ENSP00000301067:p.Ser4808Gly		47708152	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.378484	0.24944	.	.	ENSG00000167548	ENST00000301067	T	0.79749	-1.3	5.04	3.86	0.44501	.	0.000000	0.45867	D	0.000321	T	0.71904	0.3395	L	0.34521	1.04	0.26315	N	0.977768	B	0.23377	0.084	B	0.26310	0.068	T	0.65837	-0.6071	10	0.87932	D	0	.	11.1782	0.48612	0.0:0.0:0.1547:0.8453	.	4808	O14686	MLL2_HUMAN	G	4808	ENSP00000301067:S4808G	ENSP00000301067:S4808G	S	-	1	0	MLL2	47708152	0.995000	0.38212	0.958000	0.39756	0.898000	0.52572	2.333000	0.43912	0.850000	0.35239	0.459000	0.35465	AGC		0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
DDIT3	1649	hgsc.bcm.edu	37	12	57910757	57910757	+	Silent	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr12:57910757A>G	ENST00000346473.3	-	4	524	c.345T>C	c.(343-345)gcT>gcC	p.A115A	MIR616_ENST00000385293.1_RNA|DDIT3_ENST00000552740.1_Silent_p.A138A|RN7SL312P_ENST00000582079.1_RNA|DDIT3_ENST00000547303.1_Silent_p.A115A|DDIT3_ENST00000551116.1_Silent_p.A138A	NM_001195057.1|NM_004083.5	NP_001181986.1|NP_004074.2	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	115	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.		A -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|blood vessel maturation (GO:0001955)|cell cycle arrest (GO:0007050)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of determination of dorsal identity (GO:2000016)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|regulation of transcription, DNA-templated (GO:0006355)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to starvation (GO:0042594)|response to unfolded protein (GO:0006986)|Wnt signaling pathway (GO:0016055)	late endosome (GO:0005770)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.A115A(1)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						GCTGCTTTCCAGCCCGGGCTG	0.542			T	FUS	liposarcoma																																GBM(112;1383 1547 7626 23045 28770)			Dom	yes		12	12q13.1-q13.2	1649	DNA-damage-inducible transcript 3		M	1	Substitution - coding silent(1)	large_intestine(1)	12											142.0	151.0	148.0					12																	57910757		2203	4300	6503	56197024	SO:0001819	synonymous_variant	1649			BC003637	CCDS8943.1, CCDS55838.1	12q13.1-q13.2	2008-02-05				ENSG00000175197			2726	protein-coding gene	gene with protein product	"""C/EBP zeta"""	126337				1990262	Standard	NM_001195053		Approved	CHOP10, GADD153, CHOP	uc021qzk.1	P35638		ENST00000346473.3:c.345T>C	12.37:g.57910757A>G			56197024	F8VS99	Silent	SNP	ENST00000346473.3	37	CCDS8943.1																																																																																				0.542	DDIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407137.1	NM_004083	
E2F7	144455	hgsc.bcm.edu	37	12	77439991	77439991	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr12:77439991A>G	ENST00000322886.7	-	5	891	c.656T>C	c.(655-657)cTg>cCg	p.L219P	E2F7_ENST00000416496.2_Missense_Mutation_p.L219P	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	219					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GAGGTTCCTCAGGGTTTTTGG	0.483																																																	0			12											137.0	130.0	132.0					12																	77439991		2203	4300	6503	75964122	SO:0001583	missense	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.656T>C	12.37:g.77439991A>G	ENSP00000323246:p.Leu219Pro		75964122	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.9|26.9	4.785584|4.785584	0.90282|0.90282	.|.	.|.	ENSG00000165891|ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669|ENST00000551058	T;T;T|.	0.30182|.	1.79;1.54;1.55|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76666|.	0.4019|.	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|.	0.76955|.	-0.2767|.	10|.	0.87932|.	D|.	0|.	-14.1737|-14.1737	16.0034|16.0034	0.80327|0.80327	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	219;219|.	F8VSE7;Q96AV8|.	.;E2F7_HUMAN|.	P|R	219|97	ENSP00000323246:L219P;ENSP00000393639:L219P;ENSP00000448245:L219P|.	ENSP00000323246:L219P|.	L|X	-|-	2|1	0|0	E2F7|E2F7	75964122|75964122	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.997000|0.997000	0.91878|0.91878	9.339000|9.339000	0.96797|0.96797	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CTG|TGA		0.483	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871	
CMKLR1	1240	hgsc.bcm.edu	37	12	108686442	108686442	+	Missense_Mutation	SNP	C	C	T	rs370635582		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr12:108686442C>T	ENST00000312143.7	-	3	661	c.298G>A	c.(298-300)Gcc>Acc	p.A100T	CMKLR1_ENST00000412676.1_Missense_Mutation_p.A100T|CMKLR1_ENST00000550402.1_Missense_Mutation_p.A100T|CMKLR1_ENST00000552995.1_Missense_Mutation_p.A98T|CMKLR1_ENST00000397688.2_Missense_Mutation_p.A98T	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	100					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TAGTCCATGGCGGCATAGGTG	0.498																																																	0			12											142.0	145.0	144.0					12																	108686442		2104	4218	6322	107210572	SO:0001583	missense	1240			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.298G>A	12.37:g.108686442C>T	ENSP00000311733:p.Ala100Thr		107210572	A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	c	17.42	3.383900	0.61845	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402;ENST00000550573;ENST00000549466	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.365028	0.30347	N	0.009837	T	0.57814	0.2079	M	0.72479	2.2	0.42683	D	0.993557	D	0.71674	0.998	P	0.62184	0.899	T	0.61574	-0.7035	10	0.59425	D	0.04	.	17.3636	0.87358	0.0:1.0:0.0:0.0	.	100	Q99788	CML1_HUMAN	T	100;100;98;98;100;100;100	ENSP00000311733:A100T;ENSP00000401293:A100T;ENSP00000380803:A98T;ENSP00000447579:A98T;ENSP00000449716:A100T;ENSP00000448925:A100T;ENSP00000448362:A100T	ENSP00000311733:A100T	A	-	1	0	CMKLR1	107210572	0.998000	0.40836	0.935000	0.37517	0.364000	0.29643	3.866000	0.56040	2.448000	0.82819	0.486000	0.48141	GCC		0.498	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1		
CORO1C	23603	hgsc.bcm.edu	37	12	109042533	109042533	+	Missense_Mutation	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr12:109042533G>A	ENST00000261401.3	-	10	1325	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S	CORO1C_ENST00000421578.2_Missense_Mutation_p.P280S|CORO1C_ENST00000420959.2_Missense_Mutation_p.P438S|CORO1C_ENST00000549772.1_Missense_Mutation_p.P391S|CORO1C_ENST00000541050.1_Missense_Mutation_p.P385S|CORO1C_ENST00000549384.1_5'UTR	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	385					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.P385S(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						ATGAGGATTGGGTCTGCATTC	0.517																																																	1	Substitution - Missense(1)	skin(1)	12											214.0	160.0	178.0					12																	109042533		2203	4300	6503	107566662	SO:0001583	missense	23603			BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.1153C>T	12.37:g.109042533G>A	ENSP00000261401:p.Pro385Ser		107566662	A7MAP0|A7MAP1|B3KU12|Q9NSK5	Missense_Mutation	SNP	ENST00000261401.3	37	CCDS9120.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958955	0.92726	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000546705;ENST00000421578;ENST00000549772;ENST00000420959	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.46	5.46	0.80206	Domain of unknown function DUF1900 (1);	0.000000	0.85682	D	0.000000	T	0.68851	0.3046	M	0.92026	3.265	0.80722	D	1	D;D;D	0.55172	0.965;0.965;0.97	P;D;P	0.65573	0.831;0.936;0.769	T	0.76479	-0.2944	10	0.87932	D	0	-9.0299	19.2975	0.94129	0.0:0.0:1.0:0.0	.	348;438;385	B4DMH3;A7MAP1;Q9ULV4	.;.;COR1C_HUMAN	S	385;385;76;280;391;438	ENSP00000261401:P385S;ENSP00000438341:P385S;ENSP00000447337:P76S;ENSP00000415554:P280S;ENSP00000447534:P391S;ENSP00000394496:P438S	ENSP00000261401:P385S	P	-	1	0	CORO1C	107566662	1.000000	0.71417	0.493000	0.27502	0.730000	0.41778	9.819000	0.99357	2.547000	0.85894	0.591000	0.81541	CCA		0.517	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325	
ANKRD34C	390616	hgsc.bcm.edu	37	15	79586424	79586424	+	Silent	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr15:79586424G>A	ENST00000558647.2	+	1	798	c.798G>A	c.(796-798)tcG>tcA	p.S266S	ANKRD34C_ENST00000421388.2_Silent_p.S266S			P0C6C1	AN34C_HUMAN	ankyrin repeat domain 34C	266										endometrium(3)|kidney(1)|skin(1)	5						TGGCAGCCTCGACGCGTCAGG	0.562																																																	0			15											7.0	8.0	8.0					15																	79586424		682	1578	2260	77373479	SO:0001819	synonymous_variant	390616				CCDS53965.1	15q25.1	2013-01-10			ENSG00000235711	ENSG00000235711		"""Ankyrin repeat domain containing"""	33888	protein-coding gene	gene with protein product							Standard	NM_001146341		Approved		uc002bet.3	P0C6C1		ENST00000558647.2:c.798G>A	15.37:g.79586424G>A			77373479	H3BNM1	Silent	SNP	ENST00000558647.2	37	CCDS53965.1																																																																																				0.562	ANKRD34C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416713.2	NM_001146341	
KLHL34	257240	hgsc.bcm.edu	37	X	21674619	21674619	+	Missense_Mutation	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chrX:21674619C>T	ENST00000379499.2	-	1	1829	c.1288G>A	c.(1288-1290)Gtc>Atc	p.V430I		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	430						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						AGGCCCCCGACGGCCAGGAGC	0.736																																																	0			X											4.0	5.0	5.0					X																	21674619		1925	3721	5646	21584540	SO:0001583	missense	257240			AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1288G>A	X.37:g.21674619C>T	ENSP00000368813:p.Val430Ile		21584540		Missense_Mutation	SNP	ENST00000379499.2	37	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	2.779	-0.253869	0.05829	.	.	ENSG00000185915	ENST00000379499	T	0.46063	0.88	4.3	4.3	0.51218	Kelch-type beta propeller (1);	0.134936	0.49305	D	0.000156	T	0.31040	0.0784	L	0.43554	1.36	0.30998	N	0.720687	P	0.37955	0.612	B	0.37015	0.239	T	0.42344	-0.9457	10	0.54805	T	0.06	.	4.5832	0.12269	0.0:0.6884:0.0:0.3116	.	430	Q8N239	KLH34_HUMAN	I	430	ENSP00000368813:V430I	ENSP00000368813:V430I	V	-	1	0	KLHL34	21584540	1.000000	0.71417	0.985000	0.45067	0.033000	0.12548	4.258000	0.58822	1.974000	0.57490	0.415000	0.27848	GTC		0.736	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270	
PCYT1B	9468	hgsc.bcm.edu	37	X	24593379	24593379	+	Silent	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chrX:24593379A>G	ENST00000379144.2	-	7	895	c.765T>C	c.(763-765)aaT>aaC	p.N255N	PCYT1B_ENST00000379145.1_Silent_p.N237N|PCYT1B_ENST00000356768.4_Silent_p.N255N	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	255					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TTTCCTCCACATTCTTGACTT	0.378																																																	0			X											210.0	171.0	184.0					X																	24593379		2203	4300	6503	24503300	SO:0001819	synonymous_variant	9468			AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.765T>C	X.37:g.24593379A>G			24503300	A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Silent	SNP	ENST00000379144.2	37	CCDS14213.1																																																																																				0.378	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845	
CYBB	1536	hgsc.bcm.edu	37	X	37663245	37663245	+	Missense_Mutation	SNP	A	A	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chrX:37663245A>C	ENST00000378588.4	+	9	1080	c.1013A>C	c.(1012-1014)cAc>cCc	p.H338P	CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000545017.1_Missense_Mutation_p.H306P|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Missense_Mutation_p.H71P	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	338	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.		H -> D (in CGD). {ECO:0000269|PubMed:23910690}.|H -> Y (in CGD; dbSNP:rs151344484). {ECO:0000269|PubMed:10089913, ECO:0000269|PubMed:10914676}.		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)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	CTGGAGTGGCACCCTTTTACA	0.483																																																	0			X											113.0	102.0	105.0					X																	37663245		2202	4300	6502	37548189	SO:0001583	missense	1536			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1013A>C	X.37:g.37663245A>C	ENSP00000367851:p.His338Pro		37548189	A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.330388	0.81690	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	D;D;D	0.98807	-5.15;-5.15;-5.15	5.77	5.77	0.91146	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99515	0.9827	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97892	1.0298	10	0.72032	D	0.01	.	15.0692	0.72021	1.0:0.0:0.0:0.0	.	306;338	F5GWD2;P04839	.;CY24B_HUMAN	P	338;306;71	ENSP00000367851:H338P;ENSP00000441896:H306P;ENSP00000441958:H71P	ENSP00000367851:H338P	H	+	2	0	CYBB	37548189	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.962000	0.93254	1.941000	0.56285	0.441000	0.28932	CAC		0.483	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1		
GPKOW	27238	hgsc.bcm.edu	37	X	48979963	48979963	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chrX:48979963T>C	ENST00000156109.5	-	1	188	c.110A>G	c.(109-111)gAc>gGc	p.D37G		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	37						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CCCCGCGCCGTCTCCCGAGTC	0.617																																																	0			X											20.0	20.0	20.0					X																	48979963		2202	4297	6499	48866907	SO:0001583	missense	27238			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.110A>G	X.37:g.48979963T>C	ENSP00000156109:p.Asp37Gly		48866907	Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.843538	0.32606	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.26	2.83	0.33086	.	0.527244	0.17101	N	0.186999	T	0.15912	0.0383	L	0.28740	0.885	0.09310	N	1	P	0.43788	0.817	B	0.36092	0.217	T	0.12630	-1.0540	9	0.39692	T	0.17	.	2.2467	0.04033	0.0:0.2352:0.2976:0.4672	.	37	Q92917	GPKOW_HUMAN	G	37	.	ENSP00000156109:D37G	D	-	2	0	GPKOW	48866907	0.005000	0.15991	0.003000	0.11579	0.261000	0.26267	0.651000	0.24873	0.626000	0.30322	0.338000	0.21704	GAC		0.617	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698	
PFKFB1	5207	hgsc.bcm.edu	37	X	54987346	54987346	+	Missense_Mutation	SNP	A	A	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chrX:54987346A>T	ENST00000375006.3	-	3	298	c.228T>A	c.(226-228)ttT>ttA	p.F76L	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Missense_Mutation_p.F11L	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	76	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GGCCTAAATTAAACACTGAAA	0.468																																																	0			X											87.0	73.0	78.0					X																	54987346		2203	4300	6503	55004071	SO:0001583	missense	5207				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.228T>A	X.37:g.54987346A>T	ENSP00000364145:p.Phe76Leu		55004071	B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.137825	0.77775	.	.	ENSG00000158571	ENST00000375006;ENST00000545676	.	.	.	4.89	3.57	0.40892	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	D	0.82930	0.5144	H	0.97465	4.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.83914	0.0297	9	0.87932	D	0	-10.7484	5.3206	0.15879	0.7622:0.0:0.2378:0.0	.	11;76	B4DUN5;P16118	.;F261_HUMAN	L	76;11	.	ENSP00000364145:F76L	F	-	3	2	PFKFB1	55004071	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.406000	0.34646	1.743000	0.51761	0.481000	0.45027	TTT		0.468	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1		
ACRC	93953	hgsc.bcm.edu	37	X	70823980	70823980	+	Missense_Mutation	SNP	T	T	C	rs199853865		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chrX:70823980T>C	ENST00000373695.1	+	7	1390	c.853T>C	c.(853-855)Tcc>Ccc	p.S285P	ACRC_ENST00000373696.3_Missense_Mutation_p.S285P			Q96QF7	ACRC_HUMAN	acidic repeat containing	285	Asp/Ser-rich.					nucleus (GO:0005634)		p.S285P(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TTCGGAAGCTTCCGACGACAG	0.542																																																	1	Substitution - Missense(1)	large_intestine(1)	X											111.0	107.0	109.0					X																	70823980		2203	4300	6503	70740705	SO:0001583	missense	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.853T>C	X.37:g.70823980T>C	ENSP00000362799:p.Ser285Pro		70740705	B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.795474	0.00076	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.29917	1.55;1.55	0.14	-0.28	0.12886	.	.	.	.	.	T	0.13157	0.0319	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22695	-1.0209	9	0.30078	T	0.28	.	4.6957	0.12802	0.0:0.6866:0.0:0.3134	.	285	Q96QF7	ACRC_HUMAN	P	285	ENSP00000362800:S285P;ENSP00000362799:S285P	ENSP00000362799:S285P	S	+	1	0	ACRC	70740705	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-2.107000	0.01337	-1.694000	0.01425	-1.727000	0.00703	TCC		0.542	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1		
ACRC	93953	hgsc.bcm.edu	37	X	70824010	70824010	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chrX:70824010T>C	ENST00000373695.1	+	7	1420	c.883T>C	c.(883-885)Tcc>Ccc	p.S295P	ACRC_ENST00000373696.3_Missense_Mutation_p.S295P			Q96QF7	ACRC_HUMAN	acidic repeat containing	295	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TTCGGAAGCTTCCGACGACAG	0.527																																																	0			X											132.0	124.0	127.0					X																	70824010		2203	4300	6503	70740735	SO:0001583	missense	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.883T>C	X.37:g.70824010T>C	ENSP00000362799:p.Ser295Pro		70740735	B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	T	2.597	-0.293877	0.05568	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.29397	1.57;1.57	0.14	-0.28	0.12886	.	.	.	.	.	T	0.09642	0.0237	N	0.01874	-0.695	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.30268	-0.9984	9	0.20519	T	0.43	.	4.4172	0.11463	0.0:0.6635:0.0:0.3365	.	295	Q96QF7	ACRC_HUMAN	P	295	ENSP00000362800:S295P;ENSP00000362799:S295P	ENSP00000362799:S295P	S	+	1	0	ACRC	70740735	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-1.504000	0.02275	-1.219000	0.02597	-1.215000	0.01618	TCC		0.527	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1		
THOC2	57187	hgsc.bcm.edu	37	X	122767822	122767822	+	Silent	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chrX:122767822T>C	ENST00000245838.8	-	20	2149	c.2118A>G	c.(2116-2118)ggA>ggG	p.G706G	THOC2_ENST00000491737.1_Silent_p.G591G|THOC2_ENST00000355725.4_Silent_p.G706G	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	706					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTAGCTGCTCTCCACCAGTCA	0.348																																																	0			X											149.0	135.0	139.0					X																	122767822		1859	4078	5937	122595503	SO:0001819	synonymous_variant	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2118A>G	X.37:g.122767822T>C			122595503	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	CCDS43988.1																																																																																				0.348	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
TENM1	10178	hgsc.bcm.edu	37	X	123630874	123630874	+	Missense_Mutation	SNP	C	C	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chrX:123630874C>A	ENST00000371130.3	-	20	3750	c.3687G>T	c.(3685-3687)ttG>ttT	p.L1229F	TENM1_ENST00000422452.2_Missense_Mutation_p.L1229F|TENM1_ENST00000461429.1_5'UTR	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1229					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACCTTAATTCCAAAATACTAA	0.398																																																	0			X											47.0	49.0	48.0					X																	123630874		2203	4299	6502	123458555	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3687G>T	X.37:g.123630874C>A	ENSP00000360171:p.Leu1229Phe		123458555	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081583	0.55753	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90504	-2.68;-2.67	5.67	4.81	0.61882	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000005	D	0.92831	0.7720	L	0.55481	1.735	0.58432	D	0.999999	D;P;P	0.76494	0.999;0.675;0.93	D;B;P	0.80764	0.994;0.157;0.496	D	0.91814	0.5462	10	0.48119	T	0.1	.	9.5671	0.39405	0.0:0.7725:0.0:0.2275	.	1228;1229;1229	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	F	1229	ENSP00000360171:L1229F;ENSP00000403954:L1229F	ENSP00000360171:L1229F	L	-	3	2	ODZ1	123458555	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.124000	0.31320	1.156000	0.42514	-0.190000	0.12839	TTG		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
ZNF280C	55609	hgsc.bcm.edu	37	X	129377582	129377582	+	Silent	SNP	A	A	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chrX:129377582A>T	ENST00000370978.4	-	5	489	c.336T>A	c.(334-336)tcT>tcA	p.S112S		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	112	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GTGAAGATTTAGATACAAGAT	0.378																																																	0			X											79.0	79.0	79.0					X																	129377582		2203	4300	6503	129205263	SO:0001819	synonymous_variant	55609			AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.336T>A	X.37:g.129377582A>T			129205263	A8K2V8|Q9NXR3	Silent	SNP	ENST00000370978.4	37	CCDS14622.1																																																																																				0.378	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666	
GABRE	2564	hgsc.bcm.edu	37	X	151123285	151123285	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chrX:151123285T>C	ENST00000370328.3	-	9	1462	c.1409A>G	c.(1408-1410)cAg>cGg	p.Q470R	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	470					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAGGCGGCCCTGCTGCCAGGT	0.542																																																	0			X											43.0	43.0	43.0					X																	151123285		2203	4300	6503	150873941	SO:0001583	missense	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1409A>G	X.37:g.151123285T>C	ENSP00000359353:p.Gln470Arg		150873941	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	T	5.548	0.285999	0.10513	.	.	ENSG00000102287	ENST00000370328	D	0.85258	-1.96	5.68	1.33	0.21861	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.128570	0.06734	N	0.777187	T	0.70002	0.3174	N	0.12831	0.26	0.28387	N	0.919279	B	0.09022	0.002	B	0.08055	0.003	T	0.53788	-0.8389	10	0.13108	T	0.6	.	6.9498	0.24538	0.0:0.3573:0.0:0.6427	.	470	P78334	GBRE_HUMAN	R	470	ENSP00000359353:Q470R	ENSP00000359353:Q470R	Q	-	2	0	GABRE	150873941	0.015000	0.18098	0.893000	0.35052	0.845000	0.48019	1.636000	0.37144	-0.102000	0.12197	0.486000	0.48141	CAG		0.542	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984	
PLXNB3	5365	hgsc.bcm.edu	37	X	153041435	153041435	+	Missense_Mutation	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chrX:153041435C>T	ENST00000361971.5	+	27	4609	c.4495C>T	c.(4495-4497)Cgg>Tgg	p.R1499W	PLXNB3_ENST00000538776.1_Missense_Mutation_p.R1152W|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R1522W	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1499					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGCCAAACGGACCCTGAA	0.662																																																	0			X											50.0	40.0	43.0					X																	153041435		2195	4297	6492	152694629	SO:0001583	missense	5365			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.4495C>T	X.37:g.153041435C>T	ENSP00000355378:p.Arg1499Trp		152694629	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.80|17.80	3.477859|3.477859	0.63849|0.63849	.|.	.|.	ENSG00000198753|ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776|ENST00000455214	T;T;T|.	0.11930|.	2.73;2.73;2.73|.	4.82|4.82	2.87|2.87	0.33458|0.33458	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61388|0.61388	0.2343|0.2343	L|L	0.57536|0.57536	1.79|1.79	0.41491|0.41491	D|D	0.988224|0.988224	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.70935|.	0.956;0.91;0.971|.	T|T	0.59273|0.59273	-0.7485|-0.7485	10|5	0.87932|.	D|.	0|.	.|.	11.1678|11.1678	0.48554|0.48554	0.4336:0.5664:0.0:0.0|0.4336:0.5664:0.0:0.0	.|.	1152;1522;1499|.	B7Z3H9;F5H773;Q9ULL4|.	.;.;PLXB3_HUMAN|.	W|M	1522;1499;1152|2	ENSP00000442736:R1522W;ENSP00000355378:R1499W;ENSP00000445569:R1152W|.	ENSP00000355378:R1499W|.	R|T	+|+	1|2	2|0	PLXNB3|PLXNB3	152694629|152694629	0.358000|0.358000	0.24947|0.24947	0.992000|0.992000	0.48379|0.48379	0.993000|0.993000	0.82548|0.82548	0.082000|0.082000	0.14847|0.14847	0.922000|0.922000	0.37019|0.37019	0.525000|0.525000	0.51046|0.51046	CGG|ACG		0.662	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		
FLNA	2316	hgsc.bcm.edu	37	X	153593246	153593246	+	Missense_Mutation	SNP	C	C	T	rs200673062		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chrX:153593246C>T	ENST00000369850.3	-	12	2007	c.1771G>A	c.(1771-1773)Gtt>Att	p.V591I	FLNA_ENST00000344736.4_Missense_Mutation_p.V591I|FLNA_ENST00000360319.4_Missense_Mutation_p.V591I|FLNA_ENST00000422373.1_Missense_Mutation_p.V591I	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	591					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.V591I(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACTTGCCAACGACGCCGCCC	0.632													C|||	2	0.000529801	0.0	0.0029	3775	,	,		14037	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)	X											108.0	123.0	118.0					X																	153593246		2134	4223	6357	153246440	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1771G>A	X.37:g.153593246C>T	ENSP00000358866:p.Val591Ile		153246440	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	1	6.027727546714888E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.78	2.636253	0.47049	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93	4.34	4.34	0.51931	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000019	D	0.92652	0.7665	M	0.87547	2.89	0.80722	D	1	D;D	0.65815	0.978;0.995	P;D	0.67725	0.761;0.953	D	0.93650	0.6972	10	0.52906	T	0.07	.	16.2589	0.82530	0.0:1.0:0.0:0.0	.	591;591	P21333-2;P21333	.;FLNA_HUMAN	I	591;564;591;591;591	ENSP00000353467:V591I;ENSP00000416926:V591I;ENSP00000358866:V591I;ENSP00000358863:V591I	ENSP00000358863:V591I	V	-	1	0	FLNA	153246440	0.853000	0.29707	0.674000	0.29902	0.952000	0.60782	3.354000	0.52254	1.741000	0.51731	0.464000	0.42555	GTT		0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
DOK7	285489	hgsc.bcm.edu	37	4	3495129	3495129	+	Silent	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr4:3495129C>T	ENST00000340083.5	+	7	1481	c.1416C>T	c.(1414-1416)ggC>ggT	p.G472G	DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000389653.2_Silent_p.G472G|DOK7_ENST00000507039.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	472					neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGCCCCTGGCGAGCCCTGGG	0.716																																																	0			4											5.0	6.0	6.0					4																	3495129		2078	4093	6171	3464927	SO:0001819	synonymous_variant	285489			AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.1416C>T	4.37:g.3495129C>T			3464927	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Silent	SNP	ENST00000340083.5	37	CCDS3370.2																																																																																				0.716	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660	
BOD1L1	259282	hgsc.bcm.edu	37	4	13602576	13602576	+	Missense_Mutation	SNP	G	G	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr4:13602576G>T	ENST00000040738.5	-	10	6083	c.5948C>A	c.(5947-5949)gCa>gAa	p.A1983E		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1983						nucleus (GO:0005634)	DNA binding (GO:0003677)										TTGATCAGATGCAGCACTAGT	0.478																																																	0			4											132.0	125.0	128.0					4																	13602576		2203	4300	6503	13211674	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5948C>A	4.37:g.13602576G>T	ENSP00000040738:p.Ala1983Glu		13211674	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094165	0.36952	.	.	ENSG00000038219	ENST00000040738	T	0.07567	3.18	5.09	3.32	0.38043	.	0.409091	0.20800	N	0.085444	T	0.05593	0.0147	L	0.27053	0.805	0.09310	N	1	P	0.44877	0.845	B	0.39379	0.298	T	0.32903	-0.9889	10	0.36615	T	0.2	-2.6419	6.4077	0.21674	0.1666:0.153:0.6804:0.0	.	1983	Q8NFC6	BOD1L_HUMAN	E	1983	ENSP00000040738:A1983E	ENSP00000040738:A1983E	A	-	2	0	BOD1L	13211674	0.034000	0.19679	0.177000	0.23020	0.898000	0.52572	2.105000	0.41825	0.686000	0.31488	0.561000	0.74099	GCA		0.478	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
AFM	173	hgsc.bcm.edu	37	4	74351752	74351752	+	Silent	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr4:74351752C>T	ENST00000226355.3	+	4	537	c.444C>T	c.(442-444)tgC>tgT	p.C148C		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	148	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAGAGAAATGCCAGGCTTATG	0.368																																																	0			4											81.0	83.0	82.0					4																	74351752		2203	4300	6503	74570616	SO:0001819	synonymous_variant	173			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.444C>T	4.37:g.74351752C>T			74570616	A8K3E1|Q32MR3|Q4W5C5	Silent	SNP	ENST00000226355.3	37	CCDS3557.1																																																																																				0.368	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		
RAP1GDS1	5910	hgsc.bcm.edu	37	4	99214663	99214663	+	Missense_Mutation	SNP	A	A	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr4:99214663A>T	ENST00000408927.3	+	2	222	c.109A>T	c.(109-111)Aat>Tat	p.N37Y	RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.N38Y|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.N37Y|RAP1GDS1_ENST00000512857.1_3'UTR|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.N38Y|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.N38Y|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.N38Y	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	37					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		CCTGGCTCAAAATAGTAAGTT	0.358			T	NUP98	T-ALL																																			Dom	yes		4	4q21-q25	5910	"""RAP1, GTP-GDP dissociation stimulator 1"""		L	0			4											61.0	56.0	58.0					4																	99214663		1847	4092	5939	99433686	SO:0001583	missense	5910				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.109A>T	4.37:g.99214663A>T	ENSP00000386153:p.Asn37Tyr		99433686	E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931474	0.52866	.	.	ENSG00000138698	ENST00000509011;ENST00000380158;ENST00000264572;ENST00000508213;ENST00000408927;ENST00000514122;ENST00000453712;ENST00000511212;ENST00000408900;ENST00000339360	T;T;T;T;T;T;T;T;T;T	0.56611	1.45;0.78;1.42;0.45;1.42;1.22;1.42;0.57;0.78;1.41	5.54	5.54	0.83059	Armadillo-like helical (1);	0.114500	0.56097	D	0.000040	T	0.67439	0.2893	L	0.54323	1.7	0.49483	D	0.999793	D;D;D;D;D;D;D	0.69078	0.997;0.997;0.995;0.989;0.997;0.996;0.997	D;D;D;P;D;D;D	0.80764	0.984;0.994;0.986;0.903;0.926;0.935;0.926	T	0.69654	-0.5087	10	0.62326	D	0.03	-7.7096	13.889	0.63726	1.0:0.0:0.0:0.0	.	38;37;38;37;38;38;37	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9;B3KNU0	.;.;.;GDS1_HUMAN;.;.;.	Y	37;38;38;37;37;37;38;38;37;38	ENSP00000425992:N37Y;ENSP00000369503:N38Y;ENSP00000264572:N38Y;ENSP00000426096:N37Y;ENSP00000386153:N37Y;ENSP00000424324:N37Y;ENSP00000407157:N38Y;ENSP00000421599:N38Y;ENSP00000386223:N37Y;ENSP00000340454:N38Y	ENSP00000264572:N38Y	N	+	1	0	RAP1GDS1	99433686	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.641000	0.74324	2.101000	0.63845	0.455000	0.32223	AAT		0.358	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426	
DCHS2	54798	hgsc.bcm.edu	37	4	155244425	155244425	+	Intron	SNP	G	G	T	rs79509145		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr4:155244425G>T	ENST00000357232.4	-	13	2653				DCHS2_ENST00000339452.1_Missense_Mutation_p.Q1359K	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ttgtttgtttgttttttgCAC	0.368																																																	0			4											84.0	63.0	69.0					4																	155244425		692	1591	2283	155463875	SO:0001627	intron_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2654-785C>A	4.37:g.155244425G>T			155463875	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.665839	0.00765	.	.	ENSG00000197410	ENST00000339452	T	0.55930	0.49	1.06	-2.12	0.07165	.	.	.	.	.	T	0.25158	0.0611	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31447	-0.9943	9	0.06099	T	0.92	.	0.0385	0.00007	0.2541:0.2052:0.2285:0.3121	.	1359	E9PC11	.	K	1359	ENSP00000345062:Q1359K	ENSP00000345062:Q1359K	Q	-	1	0	DCHS2	155463875	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.354000	0.02614	-2.047000	0.00908	-1.973000	0.00462	CAA		0.368	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
SPOCK3	50859	hgsc.bcm.edu	37	4	167983666	167983666	+	Missense_Mutation	SNP	C	C	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr4:167983666C>A	ENST00000357154.3	-	4	358	c.221G>T	c.(220-222)aGt>aTt	p.S74I	SPOCK3_ENST00000421836.2_Missense_Mutation_p.S23I|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Missense_Mutation_p.S71I|SPOCK3_ENST00000511269.1_Missense_Mutation_p.S71I|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000506886.1_Missense_Mutation_p.S74I|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000512648.1_Missense_Mutation_p.S71I|SPOCK3_ENST00000510741.1_Missense_Mutation_p.S71I|SPOCK3_ENST00000511531.1_Missense_Mutation_p.S74I|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000504953.1_Missense_Mutation_p.S71I|SPOCK3_ENST00000502330.1_Missense_Mutation_p.S74I|SPOCK3_ENST00000541354.1_5'UTR	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	74					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TTTTCCTGGACTCCAAGTGCG	0.294																																																	0			4											61.0	65.0	63.0					4																	167983666		2200	4297	6497	168220241	SO:0001583	missense	50859			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.221G>T	4.37:g.167983666C>A	ENSP00000349677:p.Ser74Ile		168220241	B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246970	0.39697	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000511269;ENST00000421836;ENST00000512648;ENST00000510403;ENST00000509854;ENST00000506697;ENST00000512042	T;T;T;T;T;T;T;T;T;T;T;T;T	0.46451	1.49;1.47;1.47;1.49;1.49;1.49;1.46;1.47;1.27;2.2;0.89;0.87;0.87	4.61	2.53	0.30540	.	0.416166	0.24516	N	0.037852	T	0.40272	0.1110	L	0.50333	1.59	0.80722	D	1	P;P;P;P;P;P	0.47409	0.713;0.877;0.877;0.789;0.874;0.895	B;B;B;P;P;P	0.47470	0.434;0.276;0.276;0.452;0.466;0.548	T	0.15723	-1.0427	10	0.56958	D	0.05	-5.9505	6.9794	0.24694	0.0:0.661:0.0:0.339	.	23;83;71;74;71;74	B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;TICN3_HUMAN	I	74;71;71;74;74;74;71;71;23;71;71;71;74;74	ENSP00000349677:S74I;ENSP00000350153:S71I;ENSP00000425570:S71I;ENSP00000420920:S74I;ENSP00000423421:S74I;ENSP00000423606:S74I;ENSP00000426716:S71I;ENSP00000425502:S71I;ENSP00000411344:S23I;ENSP00000426177:S71I;ENSP00000423367:S71I;ENSP00000424168:S74I;ENSP00000425407:S74I	ENSP00000349677:S74I	S	-	2	0	SPOCK3	168220241	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.288000	0.33296	0.306000	0.22856	0.585000	0.79938	AGT		0.294	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1		
SORBS2	8470	hgsc.bcm.edu	37	4	186598556	186598556	+	Intron	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr4:186598556A>G	ENST00000284776.7	-	4	465				SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Silent_p.N29N|SORBS2_ENST00000355634.5_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_Intron|RP11-626E13.1_ENST00000447277.1_RNA	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2						actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGGTAGTGGATTAGTGATTT	0.423																																					Esophageal Squamous(153;41 2433 9491 36028)												0			4											366.0	314.0	330.0					4																	186598556		692	1591	2283	186835550	SO:0001627	intron_variant	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.44+1020T>C	4.37:g.186598556A>G			186835550	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	CCDS3845.1																																																																																				0.423	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603	
C2orf16	84226	hgsc.bcm.edu	37	2	27804575	27804575	+	Silent	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:27804575T>C	ENST00000408964.2	+	1	5187	c.5136T>C	c.(5134-5136)agT>agC	p.S1712S	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1712	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GACATCACAGTCCCTCTAAGA	0.577																																																	0			2											169.0	171.0	170.0					2																	27804575		1920	4135	6055	27658079	SO:0001819	synonymous_variant	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5136T>C	2.37:g.27804575T>C			27658079	B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	CCDS42666.1																																																																																				0.577	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
RASGRP3	25780	hgsc.bcm.edu	37	2	33748952	33748952	+	Missense_Mutation	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:33748952G>A	ENST00000403687.3	+	8	1263	c.523G>A	c.(523-525)Gat>Aat	p.D175N	RASGRP3_ENST00000402538.3_Missense_Mutation_p.D175N|RASGRP3_ENST00000407811.1_Missense_Mutation_p.D175N	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	175	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.D175N(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CTAGTTCACTGATTACCAAAG	0.353																																																	1	Substitution - Missense(1)	lung(1)	2											119.0	111.0	114.0					2																	33748952		1828	4082	5910	33602456	SO:0001583	missense	25780			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.523G>A	2.37:g.33748952G>A	ENSP00000384192:p.Asp175Asn		33602456	D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	33	5.287655	0.95517	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.37058	1.22;1.22;1.22	5.4	5.4	0.78164	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76844	-0.2809	10	0.72032	D	0.01	-19.2033	19.5444	0.95285	0.0:0.0:1.0:0.0	.	175;175	D6W583;Q8IV61	.;GRP3_HUMAN	N	175	ENSP00000385886:D175N;ENSP00000384192:D175N;ENSP00000383917:D175N	ENSP00000385886:D175N	D	+	1	0	RASGRP3	33602456	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	9.864000	0.99589	2.683000	0.91414	0.655000	0.94253	GAT		0.353	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376	
FAM98A	25940	hgsc.bcm.edu	37	2	33810660	33810660	+	Silent	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:33810660C>T	ENST00000238823.8	-	7	965	c.825G>A	c.(823-825)ttG>ttA	p.L275L	FAM98A_ENST00000403368.1_Silent_p.L275L|FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000441530.2_Silent_p.L80L			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	276							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					AAATCTTTGACAAGTCCTGCC	0.398																																																	0			2											70.0	71.0	71.0					2																	33810660		2203	4300	6503	33664164	SO:0001819	synonymous_variant	25940				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.825G>A	2.37:g.33810660C>T			33664164	B2RNA2|Q9Y3Y6	Silent	SNP	ENST00000238823.8	37	CCDS33179.1																																																																																				0.398	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475	
MSH2	4436	hgsc.bcm.edu	37	2	47637472	47637472	+	Silent	SNP	C	C	A	rs63750600		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:47637472C>A	ENST00000233146.2	+	3	829	c.606C>A	c.(604-606)ccC>ccA	p.P202P	MSH2_ENST00000406134.1_Silent_p.P202P|MSH2_ENST00000543555.1_Silent_p.P136P	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	202					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)|p.P202P(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTGTTTTACCCGGAGGAGAGA	0.453			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	4	Whole gene deletion(2)|Substitution - coding silent(1)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)	2											125.0	124.0	124.0					2																	47637472		2203	4300	6503	47490976	SO:0001819	synonymous_variant	4436	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	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.606C>A	2.37:g.47637472C>A			47490976	B4E2Z2|O75488	Silent	SNP	ENST00000233146.2	37	CCDS1834.1																																																																																				0.453	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3		
MSH6	2956	hgsc.bcm.edu	37	2	48032103	48032103	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:48032103T>C	ENST00000234420.5	+	6	3645	c.3493T>C	c.(3493-3495)Tgc>Cgc	p.C1165R	MSH6_ENST00000540021.1_Missense_Mutation_p.C1035R|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.C863R	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1165					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGCTGAAGTGTGCAGGCTCAC	0.438			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)	2											167.0	144.0	152.0					2																	48032103		2203	4300	6503	47885607	SO:0001583	missense	2956	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	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3493T>C	2.37:g.48032103T>C	ENSP00000234420:p.Cys1165Arg		47885607	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779535	0.70107	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	D;D;D	0.85411	-1.98;-1.98;-1.98	5.23	5.23	0.72850	DNA mismatch repair protein MutS, C-terminal (2);	0.104988	0.64402	D	0.000002	D	0.93442	0.7908	M	0.89715	3.055	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.75484	0.986;0.981	D	0.94682	0.7866	10	0.72032	D	0.01	-16.2284	15.1229	0.72460	0.0:0.0:0.0:1.0	.	1035;1165	B4DF41;P52701	.;MSH6_HUMAN	R	1165;131;1035;863	ENSP00000234420:C1165R;ENSP00000446475:C1035R;ENSP00000438580:C863R	ENSP00000234420:C1165R	C	+	1	0	MSH6	47885607	1.000000	0.71417	0.949000	0.38748	0.960000	0.62799	4.692000	0.61746	1.975000	0.57531	0.374000	0.22700	TGC		0.438	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
CD207	50489	hgsc.bcm.edu	37	2	71062835	71062835	+	Splice_Site	SNP	T	T	C	rs79763209		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:71062835T>C	ENST00000410009.3	-	1	117	c.72A>G	c.(70-72)cgA>cgG	p.R24R		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	24					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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TGTGGCTTGCTCGGGGCCAGA	0.547																																																	0			2											71.0	83.0	79.0					2																	71062835		2132	4252	6384	70916343	SO:0001630	splice_region_variant	50489			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.73+1A>G	2.37:g.71062835T>C			70916343		Silent	SNP	ENST00000410009.3	37																																																																																					0.547	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717	Silent
DYSF	8291	hgsc.bcm.edu	37	2	71753472	71753472	+	Silent	SNP	G	G	A	rs544769503		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:71753472G>A	ENST00000258104.3	+	12	1453	c.1176G>A	c.(1174-1176)ccG>ccA	p.P392P	DYSF_ENST00000409366.1_Silent_p.P393P|DYSF_ENST00000394120.2_Silent_p.P393P|DYSF_ENST00000409651.1_Silent_p.P424P|DYSF_ENST00000409762.1_Silent_p.P423P|DYSF_ENST00000410041.1_Silent_p.P424P|DYSF_ENST00000409744.1_Silent_p.P393P|DYSF_ENST00000413539.2_Silent_p.P423P|DYSF_ENST00000410020.3_Silent_p.P424P|DYSF_ENST00000409582.3_Silent_p.P423P|DYSF_ENST00000429174.2_Silent_p.P392P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	392	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGGACTTGCCGCAGAGTGCGT	0.692																																																	0			2											65.0	73.0	70.0					2																	71753472		2203	4300	6503	71606980	SO:0001819	synonymous_variant	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1176G>A	2.37:g.71753472G>A			71606980	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	CCDS1918.1																																																																																				0.692	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
HK2	3099	hgsc.bcm.edu	37	2	75113773	75113773	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:75113773A>G	ENST00000290573.2	+	15	2792	c.2192A>G	c.(2191-2193)gAg>gGg	p.E731G	HK2_ENST00000409174.1_Missense_Mutation_p.E703G	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	731	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GCTGTGGATGAGCTTTCACTC	0.547																																																	0			2											81.0	85.0	83.0					2																	75113773		2203	4300	6503	74967281	SO:0001583	missense	29911				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2192A>G	2.37:g.75113773A>G	ENSP00000290573:p.Glu731Gly		74967281	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763915	0.69878	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96856	-4.15;-4.15	5.49	5.49	0.81192	Hexokinase, C-terminal (1);	0.270076	0.47093	D	0.000242	D	0.95937	0.8677	M	0.63843	1.955	0.80722	D	1	D	0.54397	0.966	P	0.48795	0.59	D	0.96038	0.9022	10	0.72032	D	0.01	-22.5475	13.5962	0.61991	1.0:0.0:0.0:0.0	.	731	P52789	HXK2_HUMAN	G	731;731;703	ENSP00000290573:E731G;ENSP00000387140:E703G	ENSP00000290573:E731G	E	+	2	0	HK2	74967281	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.884000	0.63135	2.311000	0.77944	0.533000	0.62120	GAG		0.547	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189	
REEP1	65055	hgsc.bcm.edu	37	2	86459916	86459916	+	Missense_Mutation	SNP	C	C	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:86459916C>A	ENST00000165698.5	-	6	570	c.427G>T	c.(427-429)Gcc>Tcc	p.A143S	REEP1_ENST00000535845.1_Missense_Mutation_p.A116S|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000541910.1_Silent_p.V64V|REEP1_ENST00000540790.1_Missense_Mutation_p.A122S|REEP1_ENST00000538924.1_Missense_Mutation_p.A150S	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	143					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						TCCGATAAGGCACCCTGTCCC	0.642																																																	0			2											38.0	32.0	34.0					2																	86459916		2203	4300	6503	86313427	SO:0001583	missense	65055			AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"""Receptor accessory proteins"""	25786	protein-coding gene	gene with protein product	"""receptor expression enhancing protein 1"""	609139	"""chromosome 2 open reading frame 23"""	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.427G>T	2.37:g.86459916C>A	ENSP00000165698:p.Ala143Ser		86313427	B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Missense_Mutation	SNP	ENST00000165698.5	37	CCDS1989.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984215	0.74474	.	.	ENSG00000068615	ENST00000165698;ENST00000538924;ENST00000535845;ENST00000540790;ENST00000453231;ENST00000428491	D;D;D;D;D;T	0.88124	-2.32;-2.34;-1.5;-1.5;-2.28;-1.41	5.66	5.66	0.87406	.	0.053192	0.85682	D	0.000000	D	0.84325	0.5447	.	.	.	0.46028	D	0.998822	B;B;B	0.24675	0.066;0.109;0.054	B;B;B	0.33042	0.075;0.157;0.027	T	0.78715	-0.2096	9	0.25106	T	0.35	.	17.0395	0.86484	0.0:1.0:0.0:0.0	.	116;122;143	B7Z5R9;F5H7Z9;Q9H902	.;.;REEP1_HUMAN	S	143;150;116;122;150;116	ENSP00000165698:A143S;ENSP00000438346:A150S;ENSP00000437567:A116S;ENSP00000443831:A122S;ENSP00000392197:A150S;ENSP00000400607:A116S	ENSP00000165698:A143S	A	-	1	0	REEP1	86313427	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.588000	0.67517	2.832000	0.97577	0.655000	0.94253	GCC		0.642	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2	NM_022912	
GLI2	2736	hgsc.bcm.edu	37	2	121726346	121726346	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:121726346T>C	ENST00000452319.1	+	6	760	c.700T>C	c.(700-702)Tcc>Ccc	p.S234P	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.S234P					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCGGGCGCTGTCCATCTCCCC	0.627																																																	0			2											78.0	73.0	74.0					2																	121726346		2203	4300	6503	121442816	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.700T>C	2.37:g.121726346T>C	ENSP00000390436:p.Ser234Pro		121442816		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.5|29.5	5.007495|5.007495	0.93287|0.93287	.|.	.|.	ENSG00000074047|ENSG00000074047	ENST00000452319;ENST00000361492|ENST00000440937;ENST00000360874	T;T|.	0.70986|.	-0.53;-0.53|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62901|0.62901	0.2466|0.2466	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D;D|P	0.76494|0.49559	0.999;0.999|0.925	D;D|P	0.83275|0.47162	0.996;0.994|0.54	T|T	0.69628|0.69628	-0.5094|-0.5094	10|8	0.56958|0.87932	D|D	0.05|0	.|.	14.7053|14.7053	0.69186|0.69186	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	234;234|104	P10070;Q0VGA0|F5H4D9	GLI2_HUMAN;.|.	P|A	234|104;96	ENSP00000390436:S234P;ENSP00000354586:S234P|.	ENSP00000354586:S234P|ENSP00000441454:V96A	S|V	+|+	1|2	0|0	GLI2|GLI2	121442816|121442816	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.825000|7.825000	0.86693|0.86693	2.068000|2.068000	0.61886|0.61886	0.533000|0.533000	0.62120|0.62120	TCC|GTC		0.627	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270	
ACVR1C	130399	hgsc.bcm.edu	37	2	158406686	158406686	+	Missense_Mutation	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:158406686C>T	ENST00000243349.8	-	4	1123	c.763G>A	c.(763-765)Gct>Act	p.A255T	ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000335450.7_Missense_Mutation_p.A175T|ACVR1C_ENST00000409680.3_Missense_Mutation_p.A205T	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TTGTTGTCAGCAGCAATGAAA	0.383																																																	0			2											101.0	100.0	101.0					2																	158406686		2203	4300	6503	158114932	SO:0001583	missense	130399			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.763G>A	2.37:g.158406686C>T	ENSP00000243349:p.Ala255Thr		158114932		Missense_Mutation	SNP	ENST00000243349.8	37	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326152	0.81580	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000335450	T;T;T	0.66460	-0.21;-0.21;-0.21	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.245011	0.28371	N	0.015587	D	0.84410	0.5466	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.85404	0.1133	10	0.87932	D	0	.	19.9557	0.97216	0.0:1.0:0.0:0.0	.	175;255	Q8NER5-3;Q8NER5	.;ACV1C_HUMAN	T	255;205;175	ENSP00000243349:A255T;ENSP00000387168:A205T;ENSP00000335178:A175T	ENSP00000243349:A255T	A	-	1	0	ACVR1C	158114932	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	7.818000	0.86416	2.817000	0.96982	0.557000	0.71058	GCT		0.383	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259	
SP3	6670	hgsc.bcm.edu	37	2	174774706	174774706	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:174774706T>C	ENST00000310015.6	-	7	2839	c.2309A>G	c.(2308-2310)cAg>cGg	p.Q770R	SP3_ENST00000418194.2_Missense_Mutation_p.Q702R|SP3_ENST00000455789.2_Missense_Mutation_p.Q717R	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	770					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGTGACAAGCTGTAAAGGTAT	0.348																																																	0			2											99.0	95.0	97.0					2																	174774706		2203	4300	6503	174482952	SO:0001583	missense	6670			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.2309A>G	2.37:g.174774706T>C	ENSP00000310301:p.Gln770Arg		174482952	A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	CCDS2254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.67|15.67	2.903526|2.903526	0.52333|0.52333	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194|ENST00000416195	T;T;T|.	0.06142|.	3.34;3.35;3.34|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63058|0.63058	0.2479|0.2479	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	D;D;D|.	0.63046|.	0.987;0.987;0.992|.	D;D;D|.	0.72982|.	0.953;0.953;0.979|.	T|T	0.60388|0.60388	-0.7273|-0.7273	10|5	0.87932|.	D|.	0|.	.|.	15.7391|15.7391	0.77870|0.77870	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	767;770;717|.	B7ZLN9;Q02447;Q02447-6|.	.;SP3_HUMAN;.|.	R|G	770;717;702|727	ENSP00000310301:Q770R;ENSP00000388903:Q717R;ENSP00000406140:Q702R|.	ENSP00000310301:Q770R|.	Q|S	-|-	2|1	0|0	SP3|SP3	174482952|174482952	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.589000|7.589000	0.82641|0.82641	2.124000|2.124000	0.65301|0.65301	0.528000|0.528000	0.53228|0.53228	CAG|AGC		0.348	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111	
PDE11A	50940	hgsc.bcm.edu	37	2	178494179	178494179	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:178494179A>G	ENST00000286063.6	-	20	3075	c.2758T>C	c.(2758-2760)Tcc>Ccc	p.S920P	PDE11A_ENST00000449286.2_Missense_Mutation_p.S562P|PDE11A_ENST00000358450.4_Missense_Mutation_p.S670P|PDE11A_ENST00000389683.3_Missense_Mutation_p.S476P|PDE11A_ENST00000450799.2_Missense_Mutation_p.S111P|PDE11A_ENST00000409504.1_Missense_Mutation_p.S562P	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	920					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GCAGGGGAGGATGAGGCAGTT	0.498									Primary Pigmented Nodular Adrenocortical Disease, Familial																																								0			2											251.0	202.0	218.0					2																	178494179		2203	4300	6503	178202425	SO:0001583	missense	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2758T>C	2.37:g.178494179A>G	ENSP00000286063:p.Ser920Pro		178202425	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	CCDS33334.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.81|11.81	1.748334|1.748334	0.30955|0.30955	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000436700|ENST00000286063;ENST00000358450;ENST00000450799;ENST00000409504;ENST00000389683;ENST00000449286	.|T;T;T;T;T;T	.|0.72615	.|-0.28;-0.07;-0.09;-0.2;-0.67;-0.2	5.52|5.52	-1.21|-1.21	0.09524|0.09524	.|5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	.|2.024110	.|0.03038	.|N	.|0.153007	T|T	0.41305|0.41305	0.1153|0.1153	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.21930|0.21930	-1.0231|-1.0231	5|10	.|0.34782	.|T	.|0.22	.|.	1.2467|1.2467	0.01974|0.01974	0.2786:0.2943:0.2904:0.1367|0.2786:0.2943:0.2904:0.1367	.|.	.|670;920	.|Q9HCR9-2;Q9HCR9	.|.;PDE11_HUMAN	T|P	122|920;670;111;562;476;562	.|ENSP00000286063:S920P;ENSP00000351232:S670P;ENSP00000387964:S111P;ENSP00000386539:S562P;ENSP00000374333:S476P;ENSP00000390599:S562P	.|ENSP00000286063:S920P	I|S	-|-	2|1	0|0	PDE11A|PDE11A	178202425|178202425	0.036000|0.036000	0.19791|0.19791	0.006000|0.006000	0.13384|0.13384	0.054000|0.054000	0.15201|0.15201	0.168000|0.168000	0.16622|0.16622	-0.087000|-0.087000	0.12528|0.12528	-0.326000|-0.326000	0.08463|0.08463	ATC|TCC		0.498	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2		
TTN	7273	hgsc.bcm.edu	37	2	179474209	179474209	+	Silent	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:179474209G>A	ENST00000591111.1	-	223	47129	c.46905C>T	c.(46903-46905)taC>taT	p.Y15635Y	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.Y17276Y|TTN_ENST00000460472.2_Silent_p.Y8211Y|TTN_ENST00000359218.5_Silent_p.Y8336Y|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Silent_p.Y8403Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.Y14708Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15635	Ig-like 98.		Y -> C (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATAGTTGGGTAAGGTGATC	0.413																																																	0			2											105.0	98.0	100.0					2																	179474209		1893	4119	6012	179182454	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46905C>T	2.37:g.179474209G>A			179182454	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
MFSD6	54842	hgsc.bcm.edu	37	2	191302144	191302144	+	Silent	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:191302144C>T	ENST00000392328.1	+	3	1713	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	MFSD6_ENST00000281416.7_Silent_p.F463F	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	463					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GATATGGCTTCGTGTTCACCT	0.493																																																	0			2											310.0	251.0	271.0					2																	191302144		2203	4300	6503	191010389	SO:0001819	synonymous_variant	54842				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1389C>T	2.37:g.191302144C>T			191010389	D3KSZ4|Q86TH2|Q9NXM3	Silent	SNP	ENST00000392328.1	37	CCDS2306.1																																																																																				0.493	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1		
CPO	130749	hgsc.bcm.edu	37	2	207827159	207827159	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:207827159C>T	ENST00000272852.3	+	7	644	c.598C>T	c.(598-600)Caa>Taa	p.Q200*		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	200						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TAGAAACTGCCAAGATCAAAC	0.443																																																	0			2											171.0	168.0	169.0					2																	207827159		2203	4300	6503	207535404	SO:0001587	stop_gained	130749				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.598C>T	2.37:g.207827159C>T	ENSP00000272852:p.Gln200*		207535404	Q2M277|Q7RTW7	Nonsense_Mutation	SNP	ENST00000272852.3	37	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.286364	0.23478	.	.	ENSG00000144410	ENST00000272852	.	.	.	5.5	-1.38	0.09027	.	0.924814	0.09294	N	0.821866	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3377	0.43860	0.3295:0.2356:0.4349:0.0	.	.	.	.	X	200	.	ENSP00000272852:Q200X	Q	+	1	0	CPO	207535404	0.000000	0.05858	0.219000	0.23793	0.017000	0.09413	-0.716000	0.04991	-0.115000	0.11915	-0.324000	0.08512	CAA		0.443	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077	
TNS1	7145	hgsc.bcm.edu	37	2	218750499	218750499	+	Missense_Mutation	SNP	C	C	T	rs370385101		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:218750499C>T	ENST00000171887.4	-	13	1161	c.709G>A	c.(709-711)Gag>Aag	p.E237K	TNS1_ENST00000310858.6_Missense_Mutation_p.E268K|TNS1_ENST00000419504.1_Missense_Mutation_p.E237K|TNS1_ENST00000430930.1_Missense_Mutation_p.E237K	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	237	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGTCCTGGCTCGATGGTGATG	0.527																																																	0			2						C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	148.0	127.0	134.0		709	3.9	1.0	2		134	0,8600		0,0,4300	no	missense	TNS1	NM_022648.4	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	237/1736	218750499	1,13005	2203	4300	6503	218458744	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.709G>A	2.37:g.218750499C>T	ENSP00000171887:p.Glu237Lys		218458744	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.892663|4.892663	0.91889|0.91889	2.27E-4|2.27E-4	0.0|0.0	ENSG00000079308|ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858|ENST00000453356	D;D;D;D;D;D|.	0.85773|.	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03|.	4.77|4.77	3.89|3.89	0.44902|0.44902	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71108|0.71108	0.3301|0.3301	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.992;0.996;1.0;1.0;1.0;1.0|.	P;D;D;D;D;D|.	0.91635|.	0.814;0.977;0.999;0.998;0.995;0.996|.	T|T	0.71283|0.71283	-0.4639|-0.4639	10|5	0.51188|.	T|.	0.08|.	.|.	12.9162|12.9162	0.58207|0.58207	0.0:0.92:0.0:0.08|0.0:0.92:0.0:0.08	.|.	237;291;268;237;237;237|.	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55|.	.;.;.;TENS1_HUMAN;.;.|.	K|Q	237;237;237;362;305;268|12	ENSP00000171887:E237K;ENSP00000408724:E237K;ENSP00000406016:E237K;ENSP00000405460:E362K;ENSP00000400383:E305K;ENSP00000308321:E268K|.	ENSP00000171887:E237K|.	E|R	-|-	1|2	0|0	TNS1|TNS1	218458744|218458744	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.903000|0.903000	0.53119|0.53119	5.787000|5.787000	0.69013|0.69013	1.218000|1.218000	0.43458|0.43458	0.462000|0.462000	0.41574|0.41574	GAG|CGA		0.527	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
EPHA4	2043	hgsc.bcm.edu	37	2	222347195	222347195	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:222347195A>G	ENST00000281821.2	-	5	1236	c.1195T>C	c.(1195-1197)Tcc>Ccc	p.S399P	EPHA4_ENST00000409938.1_Missense_Mutation_p.S399P|EPHA4_ENST00000409854.1_Missense_Mutation_p.S399P|EPHA4_ENST00000392071.4_Missense_Mutation_p.S348P	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	399	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		S -> F (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCAGTGATGGAGACTTTGGTG	0.498																																																	0			2											274.0	277.0	276.0					2																	222347195		2203	4300	6503	222055439	SO:0001583	missense	2043			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1195T>C	2.37:g.222347195A>G	ENSP00000281821:p.Ser399Pro		222055439	A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.361851	0.82353	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000443796	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	6.06	6.06	0.98353	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	L	0.59436	1.845	0.80722	D	1	P	0.52316	0.952	P	0.57846	0.828	T	0.65965	-0.6040	10	0.49607	T	0.09	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	399	P54764	EPHA4_HUMAN	P	399;399;399;348;103	ENSP00000281821:S399P;ENSP00000386276:S399P;ENSP00000386829:S399P;ENSP00000375923:S348P;ENSP00000395917:S103P	ENSP00000281821:S399P	S	-	1	0	EPHA4	222055439	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.053000	0.71089	2.324000	0.78689	0.533000	0.62120	TCC		0.498	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3		
COL6A3	1293	hgsc.bcm.edu	37	2	238289624	238289624	+	Missense_Mutation	SNP	C	C	T	rs372255458		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:238289624C>T	ENST00000295550.4	-	5	2283	c.1831G>A	c.(1831-1833)Gcc>Acc	p.A611T	COL6A3_ENST00000353578.4_Missense_Mutation_p.A405T|COL6A3_ENST00000392004.3_Missense_Mutation_p.A405T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A204T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A410T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A405T|COL6A3_ENST00000392003.2_Missense_Mutation_p.A204T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A611T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	611	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A611T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCAATGGGGCGGCTCGGAAC	0.582																																																	1	Substitution - Missense(1)	large_intestine(1)	2						C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	61.0	53.0	56.0		1213,610,1213,610,1831	4.4	0.0	2		56	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	COL6A3	NM_057167.3,NM_057166.4,NM_057165.4,NM_057164.4,NM_004369.3	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	405/2972,204/2571,405/1238,204/1037,611/3178	238289624	1,13005	2203	4300	6503	237954363	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1831G>A	2.37:g.238289624C>T	ENSP00000295550:p.Ala611Thr		237954363	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	6.522	0.464485	0.12402	0.0	1.16E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	D;D;D;D;D;D;T;T;T	0.88586	-2.4;-2.37;-2.35;-2.36;-2.35;-2.35;0.15;0.02;0.17	5.27	4.4	0.53042	von Willebrand factor, type A (2);	0.839591	0.10116	N	0.714003	T	0.81837	0.4907	L	0.29908	0.895	0.09310	N	1	B;P;B;B;B;B	0.38535	0.106;0.635;0.03;0.03;0.407;0.039	B;B;B;B;B;B	0.38458	0.04;0.274;0.025;0.041;0.065;0.013	T	0.67829	-0.5569	10	0.15066	T	0.55	.	9.1507	0.36962	0.0:0.6557:0.2607:0.0836	.	611;204;204;405;405;611	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	T	611;410;405;204;405;611;405;204;611	ENSP00000295550:A611T;ENSP00000315609:A410T;ENSP00000315873:A405T;ENSP00000418285:A204T;ENSP00000386844:A405T;ENSP00000295546:A611T;ENSP00000375861:A405T;ENSP00000375860:A204T;ENSP00000389539:A611T	ENSP00000295550:A611T	A	-	1	0	COL6A3	237954363	0.000000	0.05858	0.010000	0.14722	0.022000	0.10575	0.127000	0.15790	1.362000	0.46000	0.655000	0.94253	GCC		0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
SLC1A1	6505	hgsc.bcm.edu	37	9	4544601	4544601	+	Missense_Mutation	SNP	C	C	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr9:4544601C>A	ENST00000262352.3	+	2	362	c.126C>A	c.(124-126)agC>agA	p.S42R		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	42					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	GAGAACACAGCAACCTCTCAA	0.388																																																	0			9											154.0	153.0	153.0					9																	4544601		2203	4300	6503	4534601	SO:0001583	missense	6505				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.126C>A	9.37:g.4544601C>A	ENSP00000262352:p.Ser42Arg		4534601	O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	37	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444795	0.43429	.	.	ENSG00000106688	ENST00000262352	T	0.58652	0.32	5.47	4.57	0.56435	.	0.609592	0.19507	N	0.112605	T	0.40247	0.1109	N	0.17723	0.515	0.35555	D	0.804227	B	0.14805	0.011	B	0.18871	0.023	T	0.43734	-0.9373	10	0.38643	T	0.18	.	8.1134	0.30928	0.1578:0.757:0.0:0.0852	.	42	P43005	EAA3_HUMAN	R	42	ENSP00000262352:S42R	ENSP00000262352:S42R	S	+	3	2	SLC1A1	4534601	0.321000	0.24625	0.989000	0.46669	0.759000	0.43091	0.556000	0.23438	1.297000	0.44761	0.555000	0.69702	AGC		0.388	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1		
TEK	7010	hgsc.bcm.edu	37	9	27158125	27158125	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr9:27158125A>G	ENST00000380036.4	+	2	791	c.349A>G	c.(349-351)Aag>Gag	p.K117E	TEK_ENST00000406359.4_Missense_Mutation_p.K117E|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	117	Ig-like C2-type 1.		K -> N (in breast cancer samples; infiltrating ductal carcinoma; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	ACGAACCATGAAGATGCGTCA	0.483																																																	0			9											158.0	128.0	138.0					9																	27158125		2203	4300	6503	27148125	SO:0001583	missense	7010			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.349A>G	9.37:g.27158125A>G	ENSP00000369375:p.Lys117Glu		27148125	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.169259	0.78339	.	.	ENSG00000120156	ENST00000380036;ENST00000346448;ENST00000406359	T;T	0.74209	-0.76;-0.82	5.74	5.74	0.90152	Tyrosine-protein kinase, receptor Tie-2, Ig-like domain 1, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000083	T	0.74816	0.3766	N	0.24115	0.695	0.53688	D	0.999977	P;D;D;D	0.69078	0.951;0.993;0.997;0.997	P;D;D;D	0.80764	0.666;0.982;0.994;0.988	T	0.69135	-0.5225	10	0.05959	T	0.93	.	16.0351	0.80621	1.0:0.0:0.0:0.0	.	150;117;117;117	Q59HG2;B5A953;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	E	117	ENSP00000369375:K117E;ENSP00000383977:K117E	ENSP00000343716:K117E	K	+	1	0	TEK	27148125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.306000	0.72810	2.186000	0.69663	0.533000	0.62120	AAG		0.483	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		
PAPPA	5069	hgsc.bcm.edu	37	9	119033668	119033668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr9:119033668C>T	ENST00000328252.3	+	9	3295	c.2926C>T	c.(2926-2928)Cga>Tga	p.R976*	PAPPA_ENST00000534838.1_Nonsense_Mutation_p.R14*	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	976					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCTTTTCTGCCGACAAGAAGT	0.423																																																	0			9											263.0	227.0	239.0					9																	119033668		2203	4300	6503	118073489	SO:0001587	stop_gained	5069				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2926C>T	9.37:g.119033668C>T	ENSP00000330658:p.Arg976*		118073489	B1AMF9|Q08371|Q68G52|Q9UDK7	Nonsense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	44	10.879788	0.99483	.	.	ENSG00000182752	ENST00000328252;ENST00000443904;ENST00000534838	.	.	.	4.78	1.77	0.24775	.	0.571091	0.18891	N	0.128313	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	0.0311	13.1465	0.59465	0.5577:0.4423:0.0:0.0	.	.	.	.	X	976;420;14	.	ENSP00000330658:R976X	R	+	1	2	PAPPA	118073489	0.015000	0.18098	0.572000	0.28498	0.885000	0.51271	0.198000	0.17217	0.264000	0.21851	0.563000	0.77884	CGA		0.423	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
CDK5RAP2	55755	hgsc.bcm.edu	37	9	123210312	123210312	+	Silent	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr9:123210312C>T	ENST00000349780.4	-	22	3065	c.2886G>A	c.(2884-2886)acG>acA	p.T962T	CDK5RAP2_ENST00000359309.3_Silent_p.T962T|CDK5RAP2_ENST00000360822.3_Silent_p.T930T|CDK5RAP2_ENST00000360190.4_Silent_p.T962T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	962	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCTGCAGCTGCGTCACCACCT	0.483																																																	0			9											102.0	104.0	104.0					9																	123210312		2203	4300	6503	122250133	SO:0001819	synonymous_variant	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2886G>A	9.37:g.123210312C>T			122250133	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	CCDS6823.1																																																																																				0.483	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	
DAB2IP	153090	hgsc.bcm.edu	37	9	124528809	124528809	+	Silent	SNP	G	G	A	rs371966536		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr9:124528809G>A	ENST00000408936.3	+	9	1679	c.1497G>A	c.(1495-1497)tcG>tcA	p.S499S	DAB2IP_ENST00000259371.2_Silent_p.S471S|DAB2IP_ENST00000309989.1_Silent_p.S375S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	499	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.S375S(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TGTTTGCCTCGTGGAGGCAGG	0.632																																																	1	Substitution - coding silent(1)	central_nervous_system(1)	9						G	,	1,4405	2.1+/-5.4	0,1,2202	56.0	52.0	54.0		1413,1125	-9.2	0.3	9		54	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DAB2IP	NM_032552.2,NM_138709.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	471/1133,375/1066	124528809	1,13005	2203	4300	6503	123568630	SO:0001819	synonymous_variant	153090			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1497G>A	9.37:g.124528809G>A			123568630	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37																																																																																					0.632	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552	
GARNL3	84253	hgsc.bcm.edu	37	9	130027259	130027259	+	Missense_Mutation	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr9:130027259C>T	ENST00000373387.4	+	1	455	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	GARNL3_ENST00000314904.5_Missense_Mutation_p.R35C|GARNL3_ENST00000435213.2_Missense_Mutation_p.R13C	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	35					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AGGCTGTAGACGTGGGGATTT	0.423																																																	0			9											257.0	244.0	248.0					9																	130027259		2203	4300	6503	129067080	SO:0001583	missense	84253			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.103C>T	9.37:g.130027259C>T	ENSP00000362485:p.Arg35Cys		129067080	B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786249	0.70337	.	.	ENSG00000136895	ENST00000439286;ENST00000444677;ENST00000446764;ENST00000373399;ENST00000425970;ENST00000435213;ENST00000314904;ENST00000373387	T;T;T;D;D;D	0.91740	1.2;0.14;0.24;-2.84;-2.8;-2.9	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.92980	0.7766	L	0.27053	0.805	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	D	0.91947	0.5568	9	.	.	.	.	17.9864	0.89157	0.0:1.0:0.0:0.0	.	35;13	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	C	58;58;58;58;13;13;35;35	ENSP00000400579:R58C;ENSP00000411160:R58C;ENSP00000411329:R13C;ENSP00000396205:R13C;ENSP00000313970:R35C;ENSP00000362485:R35C	.	R	+	1	0	GARNL3	129067080	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.539000	0.60657	2.656000	0.90262	0.650000	0.86243	CGT		0.423	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293	
SOHLH1	402381	hgsc.bcm.edu	37	9	138586279	138586279	+	Silent	SNP	G	G	A	rs369773381		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr9:138586279G>A	ENST00000298466.5	-	7	960	c.900C>T	c.(898-900)gaC>gaT	p.D300D	SOHLH1_ENST00000425225.1_Silent_p.D300D	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	300					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		ACGTCCCATCGTCCACATCAG	0.617																																																	0			9						G	,	1,4403	2.1+/-5.4	0,1,2201	79.0	65.0	70.0		900,900	-0.2	0.0	9		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SOHLH1	NM_001012415.2,NM_001101677.1	,	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	,	300/329,300/388	138586279	2,13002	2202	4300	6502	137726100	SO:0001819	synonymous_variant	402381			BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.900C>T	9.37:g.138586279G>A			137726100	C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Silent	SNP	ENST00000298466.5	37	CCDS35174.1																																																																																				0.617	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415	
KCNT1	57582	hgsc.bcm.edu	37	9	138678150	138678150	+	Silent	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr9:138678150C>T	ENST00000263604.3	+	28	3207	c.3207C>T	c.(3205-3207)ggC>ggT	p.G1069G	KCNT1_ENST00000487664.1_Silent_p.G1050G|KCNT1_ENST00000488444.2_Silent_p.G1074G|KCNT1_ENST00000298480.5_Silent_p.G1095G|KCNT1_ENST00000371757.2_Silent_p.G1095G|KCNT1_ENST00000486577.2_Silent_p.G1052G|KCNT1_ENST00000490355.2_Silent_p.G1073G|KCNT1_ENST00000491806.2_Silent_p.G1060G			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1069					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCCACACGGGCGGCGGTGACC	0.736																																																	0			9											5.0	8.0	7.0					9																	138678150		1914	3779	5693	137817971	SO:0001819	synonymous_variant	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.3207C>T	9.37:g.138678150C>T			137817971	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37																																																																																					0.736	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822	
MTUS2	23281	hgsc.bcm.edu	37	13	29599667	29599667	+	Missense_Mutation	SNP	G	G	A	rs573356096		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr13:29599667G>A	ENST00000431530.3	+	1	920	c.862G>A	c.(862-864)Gcc>Acc	p.A288T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	278						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ATCACATTCCGCCCATCCAGA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		20846	0.0		0.001	False		,,,				2504	0.0																0			13											42.0	43.0	42.0					13																	29599667		2115	4237	6352	28497667	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.862G>A	13.37:g.29599667G>A	ENSP00000392057:p.Ala288Thr		28497667	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	9.611	1.131226	0.21041	.	.	ENSG00000132938	ENST00000431530	T	0.14391	2.51	5.49	0.549	0.17213	.	0.878294	0.09712	N	0.765567	T	0.11452	0.0279	L	0.57536	1.79	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.41342	-0.9514	9	.	.	.	.	0.8684	0.01209	0.2788:0.1111:0.3601:0.2501	.	278	Q5JR59	MTUS2_HUMAN	T	288	ENSP00000392057:A288T	.	A	+	1	0	MTUS2	28497667	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.265000	0.08644	-0.228000	0.09869	-1.010000	0.02471	GCC		0.512	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
SMAD9	4093	hgsc.bcm.edu	37	13	37427671	37427671	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr13:37427671A>G	ENST00000399275.2	-	5	1284	c.1145T>C	c.(1144-1146)cTc>cCc	p.L382P	SMAD9_ENST00000379826.4_Missense_Mutation_p.L382P|SMAD9_ENST00000350148.5_Missense_Mutation_p.L345P			O15198	SMAD9_HUMAN	SMAD family member 9	382	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GAAGACCTTGAGGCTGCAGCC	0.552																																																	0			13											128.0	85.0	99.0					13																	37427671		2203	4300	6503	36325671	SO:0001583	missense	4093				CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.1145T>C	13.37:g.37427671A>G	ENSP00000382216:p.Leu382Pro		36325671	A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.591036	0.86851	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.99292	-5.7;-5.7;-5.7	5.42	5.42	0.78866	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99513	0.9826	M	0.93016	3.37	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.74348	0.919;0.983	D	0.98229	1.0482	10	0.87932	D	0	.	14.6354	0.68686	1.0:0.0:0.0:0.0	.	345;382	O15198-2;O15198	.;SMAD9_HUMAN	P	382;345;382	ENSP00000382216:L382P;ENSP00000239885:L345P;ENSP00000369154:L382P	ENSP00000239885:L345P	L	-	2	0	SMAD9	36325671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.051000	0.93849	2.050000	0.60909	0.533000	0.62120	CTC		0.552	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905	
LCP1	3936	hgsc.bcm.edu	37	13	46717468	46717468	+	Missense_Mutation	SNP	A	A	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr13:46717468A>T	ENST00000398576.2	-	15	1713	c.1325T>A	c.(1324-1326)gTa>gAa	p.V442E	LCP1_ENST00000435666.2_5'Flank|LCP1_ENST00000323076.2_Missense_Mutation_p.V442E			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	442	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CGGTTTGTTTACTCTGTTCCA	0.433			T	BCL6	NHL																																			Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0			13											169.0	141.0	150.0					13																	46717468		2203	4300	6503	45615469	SO:0001583	missense	9878			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1325T>A	13.37:g.46717468A>T	ENSP00000381581:p.Val442Glu		45615469	B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	A	35	5.448561	0.96205	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	D;D	0.95918	-3.85;-3.85	5.65	5.65	0.86999	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97511	0.9185	M	0.82056	2.57	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	D	0.98220	1.0477	10	0.87932	D	0	-12.6547	15.0545	0.71904	1.0:0.0:0.0:0.0	.	442	P13796	PLSL_HUMAN	E	442	ENSP00000315757:V442E;ENSP00000381581:V442E	ENSP00000315757:V442E	V	-	2	0	LCP1	45615469	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.149000	0.67028	0.454000	0.30748	GTA		0.433	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298	
COL4A2	1284	hgsc.bcm.edu	37	13	111111246	111111246	+	Missense_Mutation	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr13:111111246G>A	ENST00000360467.5	+	22	1867	c.1561G>A	c.(1561-1563)Ggc>Agc	p.G521S	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	521	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGAGACCCCGGCCAACACGG	0.617																																																	0			13											33.0	38.0	36.0					13																	111111246		1911	4118	6029	109909247	SO:0001583	missense	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1561G>A	13.37:g.111111246G>A	ENSP00000353654:p.Gly521Ser		109909247	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698065	0.48307	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99607	-6.27	5.37	5.37	0.77165	.	0.000000	0.56097	D	0.000027	D	0.99667	0.9876	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97885	1.0294	10	0.62326	D	0.03	.	17.9069	0.88921	0.0:0.0:1.0:0.0	.	521	P08572	CO4A2_HUMAN	S	521	ENSP00000353654:G521S	ENSP00000257309:G521S	G	+	1	0	COL4A2	109909247	1.000000	0.71417	0.489000	0.27452	0.226000	0.24999	5.486000	0.66856	2.518000	0.84900	0.655000	0.94253	GGC		0.617	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	
ZNF25	219749	hgsc.bcm.edu	37	10	38245971	38245971	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr10:38245971T>C	ENST00000302609.7	-	4	427	c.215A>G	c.(214-216)gAa>gGa	p.E72G	ZNF25_ENST00000374633.1_5'UTR|AL117337.1_ENST00000582458.1_RNA	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				ATGTGGAAATTCTACTTCTAA	0.403																																																	0			10											127.0	118.0	121.0					10																	38245971		2203	4300	6503	38285977	SO:0001583	missense	219749			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.215A>G	10.37:g.38245971T>C	ENSP00000302222:p.Glu72Gly		38285977	A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	ENST00000302609.7	37	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.717332	0.30413	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.50277	0.75	4.83	4.83	0.62350	Krueppel-associated box (1);	0.162448	0.29376	N	0.012324	T	0.40040	0.1101	L	0.55213	1.73	0.29128	N	0.87986	B	0.31318	0.319	B	0.27170	0.077	T	0.35500	-0.9786	10	0.28530	T	0.3	-24.9725	10.9615	0.47387	0.0:0.0:0.0:1.0	.	72	P17030	ZNF25_HUMAN	G	72;36	ENSP00000302222:E72G	ENSP00000302222:E72G	E	-	2	0	ZNF25	38285977	0.923000	0.31300	0.591000	0.28745	0.269000	0.26545	1.654000	0.37334	2.162000	0.67917	0.454000	0.30748	GAA		0.403	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966	
SLC16A9	220963	hgsc.bcm.edu	37	10	61432595	61432595	+	Silent	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr10:61432595T>C	ENST00000395348.3	-	3	909	c.273A>G	c.(271-273)ggA>ggG	p.G91G	SLC16A9_ENST00000395347.1_Silent_p.G91G	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	91					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						ACATCAGGCCTCCAGCCACCA	0.433																																																	0			10											83.0	79.0	80.0					10																	61432595		2203	4300	6503	61102601	SO:0001819	synonymous_variant	220963			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.273A>G	10.37:g.61432595T>C			61102601	Q6ZMI2|Q9UFH8	Silent	SNP	ENST00000395348.3	37	CCDS7256.1																																																																																				0.433	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298	
OIT3	170392	hgsc.bcm.edu	37	10	74673223	74673223	+	Silent	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr10:74673223C>T	ENST00000334011.5	+	6	1166	c.948C>T	c.(946-948)gtC>gtT	p.V316V		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	316	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GTACAGTGGTCGATGTAGGTT	0.547																																					Colon(7;19 345 13446 17537)												0			10											102.0	83.0	89.0					10																	74673223		2203	4300	6503	74343229	SO:0001819	synonymous_variant	170392				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.948C>T	10.37:g.74673223C>T			74343229	A0AVP3|Q8N1M8	Silent	SNP	ENST00000334011.5	37	CCDS7318.1																																																																																				0.547	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635	
PTEN	5728	hgsc.bcm.edu	37	10	89624279	89624279	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr10:89624279A>G	ENST00000371953.3	+	1	1410	c.53A>G	c.(52-54)gAg>gGg	p.E18G	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	18	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.R15fs*23(1)|p.Y16fs*21(1)|p.N12fs*6(1)|p.R14_D22del(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)		AGATATCAAGAGGATGGATTC	0.468		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"""	54	Whole gene deletion(37)|Unknown(13)|Deletion - Frameshift(3)|Deletion - In frame(1)	prostate(14)|central_nervous_system(10)|skin(7)|lung(6)|endometrium(3)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	10	GRCh37	CD033224	PTEN	D							182.0	174.0	177.0					10																	89624279		2203	4300	6503	89614259	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.53A>G	10.37:g.89624279A>G	ENSP00000361021:p.Glu18Gly		89614259	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	17.75	3.465988	0.63625	.	.	ENSG00000171862	ENST00000371953	D	0.95377	-3.69	5.05	5.05	0.67936	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.93485	0.7921	M	0.62266	1.93	0.80722	D	1	B	0.31383	0.321	B	0.30943	0.122	D	0.91956	0.5575	9	.	.	.	-8.2513	13.7609	0.62966	1.0:0.0:0.0:0.0	.	18	P60484	PTEN_HUMAN	G	18	ENSP00000361021:E18G	.	E	+	2	0	PTEN	89614259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.375000	0.90135	1.891000	0.54761	0.459000	0.35465	GAG		0.468	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89717688	89717688	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr10:89717688T>C	ENST00000371953.3	+	7	2070	c.713T>C	c.(712-714)tTc>tCc	p.F238S	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	238	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.M239fs*4(1)|p.R234fs*9(1)|p.K237_Y240>N(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)		GAAGACAAGTTCATGTACTTT	0.418		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)|Deletion - Frameshift(10)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Unknown(1)	prostate(16)|central_nervous_system(10)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(4)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)	10											153.0	131.0	138.0					10																	89717688		2203	4300	6503	89707668	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.713T>C	10.37:g.89717688T>C	ENSP00000361021:p.Phe238Ser		89707668	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.796292	0.31777	.	.	ENSG00000171862	ENST00000371953	D	0.84070	-1.8	5.15	2.6	0.31112	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.528864	0.22235	N	0.062762	T	0.61800	0.2376	N	0.03608	-0.345	0.32629	N	0.522217	B	0.27316	0.175	B	0.30943	0.122	T	0.60762	-0.7199	9	.	.	.	-0.3376	9.245	0.37520	0.4267:0.0:0.0:0.5733	.	238	P60484	PTEN_HUMAN	S	238	ENSP00000361021:F238S	.	F	+	2	0	PTEN	89707668	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.911000	0.48774	0.752000	0.32923	0.477000	0.44152	TTC		0.418	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
ABLIM1	3983	hgsc.bcm.edu	37	10	116245112	116245112	+	Intron	SNP	C	C	T	rs139090722	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr10:116245112C>T	ENST00000277895.5	-	8	1139				ABLIM1_ENST00000369252.4_Intron|ABLIM1_ENST00000392952.3_Missense_Mutation_p.D41N|ABLIM1_ENST00000533213.2_Intron|ABLIM1_ENST00000369253.2_Intron|ABLIM1_ENST00000369266.3_Missense_Mutation_p.D41N	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1						axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TAAAAGAAATCGGATGAAGAA	0.458													C|||	4	0.000798722	0.0	0.0	5008	,	,		19258	0.0		0.004	False		,,,				2504	0.0																0			10						C	,ASN/ASP,,ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	48.0	46.0	46.0		,889,,121	5.3	0.9	10	dbSNP_134	46	9,8591	6.4+/-24.3	0,9,4291	yes	intron,missense,intron,missense	ABLIM1	NM_001003407.1,NM_001003408.1,NM_002313.5,NM_006720.3	,23,,23	0,11,6492	TT,TC,CC		0.1047,0.0454,0.0846	,,,	,297/747,,41/456	116245112	11,12995	2203	4300	6503	116235102	SO:0001627	intron_variant	3983			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1041+2604G>A	10.37:g.116245112C>T			116235102	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	CCDS7590.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	14.56	2.572463	0.45798	4.54E-4	0.001047	ENSG00000099204	ENST00000392952;ENST00000369267;ENST00000369262;ENST00000369266;ENST00000277895;ENST00000369253	T;T	0.30448	1.53;1.53	6.17	5.28	0.74379	.	0.399231	0.25813	N	0.028139	T	0.18173	0.0436	L	0.33485	1.01	0.22435	N	0.999108	B;P;B	0.34546	0.327;0.456;0.327	B;B;B	0.26864	0.034;0.074;0.034	T	0.20472	-1.0274	10	0.02654	T	1	.	13.0295	0.58835	0.0:0.925:0.0:0.075	.	297;41;297	A6NKJ2;O14639-5;B3KVH2	.;.;.	N	41;297;357;41;357;41	ENSP00000376679:D41N;ENSP00000358270:D41N	ENSP00000277895:D357N	D	-	1	0	ABLIM1	116235102	0.996000	0.38824	0.923000	0.36655	0.727000	0.41649	2.724000	0.47285	1.633000	0.50488	-0.137000	0.14449	GAT		0.458	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3		
CTBP2	1488	hgsc.bcm.edu	37	10	126715114	126715114	+	Intron	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr10:126715114A>G	ENST00000337195.5	-	3	458				CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000309035.6_Silent_p.R405R|CTBP2_ENST00000494626.2_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CGCTGGAGGGACGGCGAGCCG	0.667																																																	0			10											18.0	16.0	17.0					10																	126715114		2172	4264	6436	126705104	SO:0001627	intron_variant	1488			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12451T>C	10.37:g.126715114A>G			126705104	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	CCDS7643.1																																																																																				0.667	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914	
MARCH11	441061	hgsc.bcm.edu	37	5	16067614	16067614	+	Missense_Mutation	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr5:16067614G>A	ENST00000332432.8	-	4	1374	c.1175C>T	c.(1174-1176)tCg>tTg	p.S392L		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	392					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AACCTCCCCCGAGCTGTTATC	0.463																																																	0			5											182.0	177.0	179.0					5																	16067614		1943	4147	6090	16120614	SO:0001583	missense	441061			BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.1175C>T	5.37:g.16067614G>A	ENSP00000333181:p.Ser392Leu		16120614	A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332104	0.81801	.	.	ENSG00000183654	ENST00000332432	T	0.22134	1.97	5.12	5.12	0.69794	.	0.135742	0.50627	D	0.000113	T	0.26919	0.0659	L	0.43152	1.355	0.80722	D	1	D	0.61080	0.989	P	0.46320	0.512	T	0.02505	-1.1149	10	0.62326	D	0.03	-14.7453	18.9417	0.92608	0.0:0.0:1.0:0.0	.	392	A6NNE9	MARHB_HUMAN	L	392	ENSP00000333181:S392L	ENSP00000333181:S392L	S	-	2	0	MARCH11	16120614	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	6.707000	0.74654	2.525000	0.85131	0.655000	0.94253	TCG		0.463	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562	
PRDM9	56979	hgsc.bcm.edu	37	5	23527555	23527555	+	Missense_Mutation	SNP	A	A	C	rs200853373		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr5:23527555A>C	ENST00000296682.3	+	11	2540	c.2358A>C	c.(2356-2358)agA>agC	p.R786S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	786					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.R786S(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGGCTTTAGAGATAAGTCAA	0.577										HNSCC(3;0.000094)																																							3	Substitution - Missense(3)	endometrium(2)|NS(1)	5											100.0	92.0	95.0					5																	23527555		2196	4292	6488	23563312	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2358A>C	5.37:g.23527555A>C	ENSP00000296682:p.Arg786Ser		23563312	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.314329	0.00018	.	.	ENSG00000164256	ENST00000296682	T	0.35048	1.33	3.09	-6.17	0.02091	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	N	0.05050	-0.12	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24728	-1.0152	9	0.02654	T	1	.	0.9381	0.01349	0.3133:0.2619:0.0944:0.3304	.	786	Q9NQV7	PRDM9_HUMAN	S	786	ENSP00000296682:R786S	ENSP00000296682:R786S	R	+	3	2	PRDM9	23563312	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-10.885000	0.00005	-2.669000	0.00415	-1.528000	0.00924	AGA		0.577	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
ZFR	51663	hgsc.bcm.edu	37	5	32400255	32400255	+	Missense_Mutation	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr5:32400255C>T	ENST00000265069.8	-	9	1672	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	524					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTAACACATTCGGTTCCTTTT	0.358																																																	0			5											141.0	127.0	132.0					5																	32400255		2203	4300	6503	32436012	SO:0001583	missense	51663			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1570G>A	5.37:g.32400255C>T	ENSP00000265069:p.Glu524Lys		32436012	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613796	0.66672	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.05081	3.5	6.16	6.16	0.99307	.	0.131135	0.64402	D	0.000001	T	0.03564	0.0102	N	0.14661	0.345	0.54753	D	0.999985	P	0.47545	0.897	B	0.27500	0.08	T	0.55798	-0.8084	10	0.09338	T	0.73	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	524	Q96KR1	ZFR_HUMAN	K	524;502	ENSP00000265069:E524K	ENSP00000265069:E524K	E	-	1	0	ZFR	32436012	0.998000	0.40836	0.970000	0.41538	0.996000	0.88848	3.994000	0.56994	2.937000	0.99478	0.650000	0.86243	GAA		0.358	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1		
DDX4	54514	hgsc.bcm.edu	37	5	55056044	55056044	+	Silent	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr5:55056044T>C	ENST00000505374.1	+	4	236	c.144T>C	c.(142-144)ccT>ccC	p.P48P	DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000354991.5_Silent_p.P48P|DDX4_ENST00000353507.5_Silent_p.P48P|DDX4_ENST00000514278.2_Silent_p.P48P|SLC38A9_ENST00000504880.1_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	48					male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ATGATGGACCTTCTCGAAGAG	0.383																																																	0			5											186.0	183.0	184.0					5																	55056044		2203	4300	6503	55091801	SO:0001819	synonymous_variant	54514			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.144T>C	5.37:g.55056044T>C			55091801	A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Silent	SNP	ENST00000505374.1	37	CCDS3969.1																																																																																				0.383	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415	
IPO11	51194	hgsc.bcm.edu	37	5	61766116	61766116	+	Missense_Mutation	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr5:61766116A>G	ENST00000325324.6	+	7	858	c.689A>G	c.(688-690)cAt>cGt	p.H230R	IPO11_ENST00000409296.3_Missense_Mutation_p.H270R|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	230					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GTGGAACCTCATAAGAATATG	0.343																																																	0			5											160.0	158.0	159.0					5																	61766116		2203	4300	6503	61801873	SO:0001583	missense	51194			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.689A>G	5.37:g.61766116A>G	ENSP00000316651:p.His230Arg		61801873	A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.909763	0.52439	.	.	ENSG00000086200	ENST00000325324;ENST00000409296	T;T	0.66280	-0.2;-0.2	5.22	5.22	0.72569	Armadillo-like helical (1);Armadillo-type fold (1);	0.051516	0.85682	D	0.000000	T	0.56093	0.1962	L	0.53249	1.67	0.80722	D	1	B;B	0.29909	0.261;0.164	B;B	0.30105	0.111;0.052	T	0.52909	-0.8512	10	0.14252	T	0.57	.	14.7626	0.69617	1.0:0.0:0.0:0.0	.	270;230	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	R	230;270	ENSP00000316651:H230R;ENSP00000386992:H270R	ENSP00000316651:H230R	H	+	2	0	IPO11	61801873	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.724000	0.84798	1.964000	0.57103	0.519000	0.50382	CAT		0.343	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338	
ADAMTS6	11174	hgsc.bcm.edu	37	5	64625279	64625279	+	Silent	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr5:64625279A>G	ENST00000536360.1	-	9	1962	c.1149T>C	c.(1147-1149)ccT>ccC	p.P383P				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	383	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AGCTCCTTTCAGGCTCACACA	0.413																																																	0			5											66.0	58.0	61.0					5																	64625279		2203	4299	6502	64661035	SO:0001819	synonymous_variant	11174			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.1149T>C	5.37:g.64625279A>G			64661035	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000536360.1	37																																																																																					0.413	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941	
MAST4	375449	hgsc.bcm.edu	37	5	66461970	66461970	+	Silent	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr5:66461970C>T	ENST00000403625.2	+	29	7258	c.6963C>T	c.(6961-6963)tcC>tcT	p.S2321S	MAST4_ENST00000403666.1_Silent_p.S2132S|MAST4_ENST00000261569.7_Silent_p.S2127S|MAST4_ENST00000405643.1_Silent_p.S2142S|MAST4_ENST00000404260.3_Silent_p.S2324S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2324						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAAACTGTCCGCTGTTGGTG	0.587											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			5											22.0	30.0	27.0					5																	66461970		2014	4169	6183	66497726	SO:0001819	synonymous_variant	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6963C>T	5.37:g.66461970C>T		1092	66497726	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	3.452	-0.111742	0.06881	.	.	ENSG00000069020	ENST00000443808	.	.	.	4.7	2.87	0.33458	.	.	.	.	.	T	0.25568	0.0622	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.19943	-1.0290	4	.	.	.	-4.0801	4.4247	0.11497	0.0:0.4234:0.3464:0.2303	.	.	.	.	C	1378	.	.	R	+	1	0	MAST4	66497726	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.291000	0.08343	0.560000	0.29169	0.561000	0.74099	CGC		0.587	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
COL4A3BP	10087	hgsc.bcm.edu	37	5	74676952	74676952	+	Silent	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr5:74676952T>C	ENST00000405807.4	-	16	2113	c.1692A>G	c.(1690-1692)ggA>ggG	p.G564G	COL4A3BP_ENST00000508692.1_Intron|COL4A3BP_ENST00000380494.5_Silent_p.G692G|COL4A3BP_ENST00000261415.7_Silent_p.G538G	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	564	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TTTCCTGGTTTCCCTCTGGTG	0.373																																																	0			5											235.0	211.0	219.0					5																	74676952		2203	4300	6503	74712708	SO:0001819	synonymous_variant	10087			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1692A>G	5.37:g.74676952T>C			74712708	A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Silent	SNP	ENST00000405807.4	37	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	T	9.686	1.150508	0.21371	.	.	ENSG00000113163	ENST00000508809	.	.	.	5.91	3.44	0.39384	.	.	.	.	.	T	0.58409	0.2120	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51568	-0.8689	4	.	.	.	-0.0355	8.8989	0.35481	0.0:0.0639:0.3599:0.5761	.	.	.	.	E	66	.	.	K	-	1	0	COL4A3BP	74712708	0.444000	0.25649	0.998000	0.56505	0.992000	0.81027	-0.474000	0.06607	0.440000	0.26502	-0.332000	0.08345	AAA		0.373	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713	
APC	324	hgsc.bcm.edu	37	5	112173917	112173917	+	Nonsense_Mutation	SNP	C	C	T	rs121913333		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr5:112173917C>T	ENST00000457016.1	+	16	3006	c.2626C>T	c.(2626-2628)Cga>Tga	p.R876*	APC_ENST00000257430.4_Nonsense_Mutation_p.R876*|APC_ENST00000508376.2_Nonsense_Mutation_p.R876*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	876	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.R876*(38)|p.S874_R876>*(1)|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)		TTCTTCAAAGCGAGGTTTGCA	0.463		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"""	40	Substitution - Nonsense(38)|Unknown(1)|Complex - deletion inframe(1)	large_intestine(37)|lung(1)|breast(1)|skin(1)	5	GRCh37	CM942020	APC	M	rs121913333						70.0	72.0	71.0					5																	112173917		2202	4300	6502	112201816	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.2626C>T	5.37:g.112173917C>T	ENSP00000413133:p.Arg876*		112201816	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	37	6.588996	0.97688	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.92	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2738	14.8639	0.70401	0.3912:0.6088:0.0:0.0	.	.	.	.	X	876;858;876;876;876	.	ENSP00000257430:R876X	R	+	1	2	APC	112201816	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.385000	0.34408	0.785000	0.33685	0.557000	0.71058	CGA		0.463	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175107	112175107	+	Silent	SNP	A	A	G			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr5:112175107A>G	ENST00000457016.1	+	16	4196	c.3816A>G	c.(3814-3816)tcA>tcG	p.S1272S	APC_ENST00000257430.4_Silent_p.S1272S|APC_ENST00000508376.2_Silent_p.S1272S|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1272	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.K1192fs*3(1)|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)		TATGTTTTTCAAGATGTAGTT	0.378		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"""	2	Unknown(1)|Deletion - Frameshift(1)	soft_tissue(1)|skin(1)	5											53.0	55.0	54.0					5																	112175107		2202	4300	6502	112203006	SO:0001819	synonymous_variant	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.3816A>G	5.37:g.112175107A>G			112203006	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				0.378	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175234	112175234	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr5:112175234T>C	ENST00000457016.1	+	16	4323	c.3943T>C	c.(3943-3945)Tca>Cca	p.S1315P	APC_ENST00000257430.4_Missense_Mutation_p.S1315P|APC_ENST00000508376.2_Missense_Mutation_p.S1315P|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1315	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.S1315fs*3(2)|p.K1192fs*3(1)|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)		TGGAACTAGGTCAGCTGAAGA	0.438		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"""	4	Insertion - Frameshift(2)|Unknown(1)|Deletion - Frameshift(1)	large_intestine(2)|soft_tissue(1)|skin(1)	5											59.0	61.0	60.0					5																	112175234		2202	4300	6502	112203133	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.3943T>C	5.37:g.112175234T>C	ENSP00000413133:p.Ser1315Pro		112203133	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	3.336	-0.135598	0.06711	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89681	-2.55;-2.55;-2.55	6.03	0.514	0.17007	.	0.642461	0.16403	N	0.215929	T	0.77003	0.4067	L	0.29908	0.895	0.35708	D	0.816143	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.62158	-0.6913	9	.	.	.	-3.6185	2.9424	0.05835	0.221:0.0622:0.2297:0.4871	.	1317;1315	Q4LE70;P25054	.;APC_HUMAN	P	1315	ENSP00000413133:S1315P;ENSP00000257430:S1315P;ENSP00000427089:S1315P	.	S	+	1	0	APC	112203133	0.120000	0.22244	0.003000	0.11579	0.060000	0.15804	0.357000	0.20199	-0.126000	0.11682	0.533000	0.62120	TCA		0.438	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175583	112175583	+	Missense_Mutation	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr5:112175583T>C	ENST00000457016.1	+	16	4672	c.4292T>C	c.(4291-4293)aTg>aCg	p.M1431T	APC_ENST00000257430.4_Missense_Mutation_p.M1431T|APC_ENST00000508376.2_Missense_Mutation_p.M1431T|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1431	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.M1431fs*42(1)|p.Y1376fs*41(1)|p.?(1)|p.P1424fs*19(1)|p.S1411fs*41(1)|p.K1192fs*3(1)|p.Q1429fs*41(1)|p.M1431R(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)		GGACAAACCATGCCACCAAGC	0.478		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"""	8	Deletion - Frameshift(6)|Substitution - Missense(1)|Unknown(1)	large_intestine(6)|soft_tissue(1)|skin(1)	5											111.0	99.0	103.0					5																	112175583		2202	4300	6502	112203482	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.4292T>C	5.37:g.112175583T>C	ENSP00000413133:p.Met1431Thr		112203482	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	18.06	3.539084	0.65085	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.92299	-3.01;-3.01;-3.01	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.94935	0.8362	M	0.64404	1.975	0.80722	D	1	D;D	0.60160	0.987;0.987	D;D	0.66196	0.942;0.942	D	0.94360	0.7587	9	.	.	.	-15.2106	16.6288	0.85011	0.0:0.0:0.0:1.0	.	1433;1431	Q4LE70;P25054	.;APC_HUMAN	T	1431	ENSP00000413133:M1431T;ENSP00000257430:M1431T;ENSP00000427089:M1431T	.	M	+	2	0	APC	112203482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.326000	0.78906	0.533000	0.62120	ATG		0.478	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
HARS2	23438	hgsc.bcm.edu	37	5	140073238	140073238	+	Silent	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr5:140073238C>T	ENST00000230771.3	+	2	394	c.171C>T	c.(169-171)atC>atT	p.I57I	HARS_ENST00000457527.2_5'Flank|HARS_ENST00000504156.1_5'Flank|HARS2_ENST00000448069.2_Intron|HARS_ENST00000307633.3_5'Flank|HARS2_ENST00000508522.1_Intron|HARS_ENST00000431330.2_5'Flank|HARS_ENST00000438307.2_5'Flank|HARS2_ENST00000432671.2_Silent_p.I57I|HARS_ENST00000415192.2_5'Flank|HARS2_ENST00000437649.2_Silent_p.I57I|HARS_ENST00000448240.1_5'Flank|HARS2_ENST00000502303.1_3'UTR|HARS2_ENST00000435019.2_Silent_p.I57I	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	57					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTTATTATCAAGACCCCAA	0.443																																																	0			5											131.0	127.0	128.0					5																	140073238		2203	4300	6503	140053422	SO:0001819	synonymous_variant	92675			U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4817	protein-coding gene	gene with protein product	"""histidine tRNA ligase 2, mitochondrial (putative)"""	600783	"""histidyl-tRNA synthetase-like"""	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.171C>T	5.37:g.140073238C>T			140053422	B4DDY8	Silent	SNP	ENST00000230771.3	37	CCDS4238.1																																																																																				0.443	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251670.2	NM_012208	
PCDHGB7	56099	hgsc.bcm.edu	37	5	140799105	140799105	+	Missense_Mutation	SNP	C	C	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr5:140799105C>T	ENST00000398594.2	+	1	1679	c.1679C>T	c.(1678-1680)cCg>cTg	p.P560L	PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	560	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)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAACGCACCGCGGGTGCTG	0.711																																																	0			5											28.0	35.0	33.0					5																	140799105		2121	4234	6355	140779289	SO:0001583	missense	56099			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1679C>T	5.37:g.140799105C>T	ENSP00000381594:p.Pro560Leu		140779289	Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.989543	0.74589	.	.	ENSG00000254122	ENST00000398594	D	0.81499	-1.5	5.38	5.38	0.77491	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.32852	U	0.005578	D	0.95095	0.8411	H	0.99789	4.78	0.50313	D	0.999864	D;D	0.89917	1.0;1.0	D;D	0.75020	0.98;0.985	D	0.97684	1.0174	10	0.87932	D	0	.	18.7253	0.91711	0.0:1.0:0.0:0.0	.	560;560	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	L	560	ENSP00000381594:P560L	ENSP00000381594:P560L	P	+	2	0	PCDHGB7	140779289	0.996000	0.38824	0.953000	0.39169	0.853000	0.48598	3.758000	0.55220	2.513000	0.84729	0.491000	0.48974	CCG		0.711	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927	
SLC36A2	153201	hgsc.bcm.edu	37	5	150704916	150704916	+	Missense_Mutation	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr5:150704916G>A	ENST00000335244.4	-	8	1070	c.941C>T	c.(940-942)gCg>gTg	p.A314V	SLC36A2_ENST00000450886.1_Missense_Mutation_p.A38V|SLC36A2_ENST00000521967.1_Missense_Mutation_p.A314V	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	314					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GCCCAGAGCCGCCATGCCAAT	0.532																																																	0			5											89.0	75.0	80.0					5																	150704916		2203	4300	6503	150685109	SO:0001583	missense	153201			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.941C>T	5.37:g.150704916G>A	ENSP00000334223:p.Ala314Val		150685109	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	CCDS4315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.50|12.50	1.955218|1.955218	0.34471|0.34471	.|.	.|.	ENSG00000186335|ENSG00000186335	ENST00000335244;ENST00000450886;ENST00000521967|ENST00000523044	T;T;T|.	0.03524|.	3.9;3.9;3.9|.	4.82|4.82	1.93|1.93	0.25924|0.25924	.|.	0.266898|.	0.41712|.	D|.	0.000838|.	T|T	0.55593|0.55593	0.1930|0.1930	M|M	0.62723|0.62723	1.935|1.935	0.23421|0.23421	N|N	0.997714|0.997714	P;P|.	0.50528|.	0.936;0.802|.	P;B|.	0.54499|.	0.754;0.382|.	T|T	0.51068|0.51068	-0.8752|-0.8752	10|5	0.87932|.	D|.	0|.	-5.8456|-5.8456	15.7582|15.7582	0.78054|0.78054	0.0:0.6081:0.3919:0.0|0.0:0.6081:0.3919:0.0	.|.	314;314|.	E5RJJ5;Q495M3|.	.;S36A2_HUMAN|.	V|W	314;38;314|67	ENSP00000334223:A314V;ENSP00000399479:A38V;ENSP00000430535:A314V|.	ENSP00000334223:A314V|.	A|R	-|-	2|1	0|2	SLC36A2|SLC36A2	150685109|150685109	0.530000|0.530000	0.26330|0.26330	0.003000|0.003000	0.11579|0.11579	0.035000|0.035000	0.12851|0.12851	2.346000|2.346000	0.44027|0.44027	0.283000|0.283000	0.22279|0.22279	-0.378000|-0.378000	0.06908|0.06908	GCG|CGG		0.532	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1		
GRIA1	2890	hgsc.bcm.edu	37	5	153026610	153026610	+	Missense_Mutation	SNP	G	G	A			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr5:153026610G>A	ENST00000285900.5	+	3	686	c.343G>A	c.(343-345)Gtt>Att	p.V115I	GRIA1_ENST00000448073.4_Missense_Mutation_p.V125I|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000340592.5_Missense_Mutation_p.V115I|GRIA1_ENST00000518783.1_Missense_Mutation_p.V125I|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000521843.2_Missense_Mutation_p.V46I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	115					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GAGCTTTCCCGTTGATACATC	0.483																																																	0			5											167.0	153.0	158.0					5																	153026610		2203	4300	6503	153006803	SO:0001583	missense	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.343G>A	5.37:g.153026610G>A	ENSP00000285900:p.Val115Ile		153006803	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.511874	0.27036	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.55	4.69	0.59074	Extracellular ligand-binding receptor (1);	0.171743	0.51477	D	0.000100	T	0.68256	0.2981	N	0.12746	0.255	0.42504	D	0.992949	B;B;B;B;B	0.16802	0.019;0.019;0.019;0.015;0.003	B;B;B;B;B	0.18561	0.013;0.022;0.013;0.007;0.002	T	0.61959	-0.6955	10	0.16420	T	0.52	.	13.4589	0.61214	0.0753:0.0:0.9247:0.0	.	125;125;125;115;115	E7ESV8;B7Z9G9;B7Z2W8;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	I	115;115;69;115;46;46;125;125	ENSP00000285900:V115I;ENSP00000339343:V115I;ENSP00000427864:V46I;ENSP00000442108:V46I;ENSP00000428994:V125I;ENSP00000415569:V125I	ENSP00000285900:V115I	V	+	1	0	GRIA1	153006803	1.000000	0.71417	0.355000	0.25773	0.551000	0.35334	3.585000	0.53943	1.354000	0.45846	-0.136000	0.14681	GTT		0.483	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
ERGIC1	57222	hgsc.bcm.edu	37	5	172336688	172336688	+	Silent	SNP	C	C	T	rs146725470	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr5:172336688C>T	ENST00000393784.3	+	4	313	c.174C>T	c.(172-174)gtC>gtT	p.V58V	ERGIC1_ENST00000523291.1_Silent_p.V58V|ERGIC1_ENST00000326654.2_Silent_p.V13V	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	58					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCTCTATGTCGATGACCCAG	0.542													C|||	6	0.00119808	0.0045	0.0	5008	,	,		22510	0.0		0.0	False		,,,				2504	0.0																0			5						C		15,4391	22.3+/-47.3	0,15,2188	224.0	171.0	189.0		174	-1.2	1.0	5	dbSNP_134	189	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ERGIC1	NM_001031711.2		0,16,6487	TT,TC,CC		0.0116,0.3404,0.123		58/291	172336688	16,12990	2203	4300	6503	172269294	SO:0001819	synonymous_variant	57222			AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.174C>T	5.37:g.172336688C>T			172269294	Q9H0L0|Q9H2J2|Q9ULN9	Silent	SNP	ENST00000393784.3	37	CCDS34292.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.355	0.831742	0.16820	0.003404	1.16E-4	ENSG00000113719	ENST00000519567	.	.	.	5.11	-1.19	0.09585	.	.	.	.	.	T	0.51143	0.1657	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40175	-0.9577	4	.	.	.	-47.4619	6.4816	0.22065	0.0:0.2981:0.2703:0.4316	.	.	.	.	L	47	.	.	S	+	2	0	ERGIC1	172269294	0.823000	0.29233	0.991000	0.47740	0.788000	0.44548	-0.227000	0.09126	-0.310000	0.08766	-0.251000	0.11542	TCG		0.542	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252938.3	NM_020462	
KIF21A	55605	hgsc.bcm.edu	37	12	39713817	39713817	+	Splice_Site	SNP	T	T	C			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr12:39713817T>C	ENST00000361418.5	-	28	3687		c.e28-2		KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000547745.1_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000395670.3_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGCCTGGAACTAAAGTAAAAG	0.333																																																	0			12											53.0	48.0	50.0					12																	39713817		2201	4300	6501	38000084	SO:0001630	splice_region_variant	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3672-2A>G	12.37:g.39713817T>C			38000084	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Splice_Site	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.507826	0.44558	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000552961;ENST00000544797;ENST00000361418;ENST00000541463	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0707	0.80928	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF21A	38000084	1.000000	0.71417	0.987000	0.45799	0.632000	0.37999	3.886000	0.56190	2.194000	0.70268	0.533000	0.62120	.		0.333	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	Intron
LCE4A	199834	hgsc.bcm.edu	37	1	152681680	152681681	+	In_Frame_Ins	INS	-	-	AGCTCTGGGGGCTGCTGT	rs6143428|rs11269814|rs200890315|rs33921874	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr1:152681680_152681681insAGCTCTGGGGGCTGCTGT	ENST00000368777.1	+	2	385_386	c.129_130insAGCTCTGGGGGCTGCTGT	c.(130-132)agc>AGCTCTGGGGGCTGCTGTagc	p.44_44S>SSGGCCS	LCE4A_ENST00000335535.3_In_Frame_Ins_p.44_44S>SSGGCCS			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	44	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			GCTGTGGCTCCAGCTCTGGGGG	0.599														4009	0.800519	0.9758	0.853	5008	,	,		18534	0.6855		0.7177	False		,,,				2504	0.7301																0			1																																								150948305	SO:0001652	inframe_insertion	199834			BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	Exception_encountered	1.37:g.152681680_152681681insAGCTCTGGGGGCTGCTGT	Exception_encountered		150948304	Q14D97	In_Frame_Ins	INS	ENST00000368777.1	37	CCDS1022.1																																																																																				0.599	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356	
GPR137B	7107	hgsc.bcm.edu	37	1	236306210	236306212	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	CTC	CTC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr1:236306210_236306212delCTC	ENST00000366592.3	+	1	379_381	c.288_290delCTC	c.(286-291)ttctcc>ttc	p.S97del	GPR137B_ENST00000366591.4_In_Frame_Del_p.S97del	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	97						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CCGTCCTCTTCTCCTTCTACTTC	0.586																																																	0			1																																								234372835	SO:0001651	inframe_deletion	7107			AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.288_290delCTC	1.37:g.236306210_236306212delCTC	ENSP00000355551:p.Ser97del		234372833	Q53EK7|Q5TAE6|Q6FHI3	In_Frame_Del	DEL	ENST00000366592.3	37	CCDS1609.1																																																																																				0.586	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272	
FMN2	56776	hgsc.bcm.edu	37	1	240370914	240370946	+	In_Frame_Del	DEL	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	-	rs199628038|rs193049501|rs562038978|rs141094573|rs4997328|rs4997329|rs188083977|rs145628188|rs71170718|rs371697625	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr1:240370914_240370946delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	ENST00000319653.9	+	5	3032_3064	c.2802_2834delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	c.(2800-2835)ctgccccctctacccggagcgggaatacctcctccg>ctg	p.PPLPGAGIPPP935del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	935	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G1082R(1)|p.P1081P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACTCCCTCTGCCCCCTCTACCCGGAGCGGGAATACCTCCTCCGCCCCCTCTA	0.678																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	1								1432,2834		223,986,924						0.9	0.0		dbSNP_114	42	2115,6135		277,1561,2287	no	coding	FMN2	NM_020066.4		500,2547,3211	A1A1,A1R,RR		25.6364,33.5677,28.3397				3547,8969				238437569	SO:0001651	inframe_deletion	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2802_2834delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	1.37:g.240370914_240370946delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	ENSP00000318884:p.Pro935_Pro945del		238437537	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	CCDS31069.2																																																																																				0.678	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
TNFAIP6	7130	hgsc.bcm.edu	37	2	152236046	152236046	+	Stop_Codon_Del	DEL	A	A	-	rs71403164|rs35060021	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr2:152236046delA	ENST00000243347.3	+	0	908					NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	AGCCACTTATAAAAAAAAAAA	0.289													|||unknown(HR)	2457	0.490615	0.4425	0.4207	5008	,	,		15615	0.5208		0.5189	False		,,,				2504	0.545																0			2											20.0	21.0	21.0					2																	152236046		2160	4277	6437	151944292	SO:0001567	stop_retained_variant	7130				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	Exception_encountered	2.37:g.152236046delA			151944292	Q53TI7|Q8WWI9	Frame_Shift_Del	DEL	ENST00000243347.3	37	CCDS2193.1																																																																																				0.289	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115	
CCDC12	151903	hgsc.bcm.edu	37	3	47018200	47018202	+	In_Frame_Del	DEL	ACA	ACA	-	rs199617773	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	ACA	ACA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:47018200_47018202delACA	ENST00000546280.1	-	1	68_70	c.21_23delTGT	c.(19-24)ggtgtg>ggg	p.V8del	CCDC12_ENST00000292314.2_In_Frame_Del_p.V21del|CCDC12_ENST00000425441.1_In_Frame_Del_p.V21del|CCDC12_ENST00000605358.1_5'Flank|NBEAL2_ENST00000292309.5_5'Flank|NBEAL2_ENST00000383740.2_5'Flank|NBEAL2_ENST00000450053.3_5'Flank	NM_144716.3	NP_653317.2	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	8										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		TAGCCGGCCCACACCAGCCGTAG	0.616																																																	0			3																																								46993206	SO:0001651	inframe_deletion	151903			BC020830	CCDS2748.1, CCDS2748.2, CCDS2748.3, CCDS63612.1	3p21.31	2006-10-24			ENSG00000160799	ENSG00000160799			28332	protein-coding gene	gene with protein product						12477932	Standard	NM_001277074		Approved	MGC23918	uc003cqo.3	Q8WUD4	OTTHUMG00000133513	ENST00000546280.1:c.21_23delTGT	3.37:g.47018200_47018202delACA	ENSP00000441327:p.Val8del		46993204	Q8N8I4	In_Frame_Del	DEL	ENST00000546280.1	37																																																																																					0.616	CCDC12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144716	
ZNF717	100131827	hgsc.bcm.edu	37	3	75787042	75787043	+	Frame_Shift_Ins	INS	-	-	AAAT	rs78806516|rs369928577	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:75787042_75787043insAAAT	ENST00000478296.1	-	4	1857_1858	c.1581_1582insATTT	c.(1579-1584)ttcctafs	p.L528fs	MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000422325.1_Frame_Shift_Ins_p.L578fs|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.L571fs|ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron			Q9BY31	ZN717_HUMAN	zinc finger protein 717	571					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						TGTATAGTTAGGAATGACTTAC	0.366																																																	0			3																																								75869733	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.1581_1582insATTT	3.37:g.75787042_75787043insAAAT	ENSP00000419377:p.Leu528fs		75869732		Frame_Shift_Ins	INS	ENST00000478296.1	37																																																																																					0.366	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223	
ZNF717	100131827	hgsc.bcm.edu	37	3	75787044	75787045	+	In_Frame_Ins	INS	-	-	CTT	rs373780316		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:75787044_75787045insCTT	ENST00000478296.1	-	4	1855_1856	c.1579_1580insAAG	c.(1579-1581)ttc>tAAGtc	p.527_527F>*V	MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000422325.1_In_Frame_Ins_p.577_577F>*V|ZNF717_ENST00000400845.3_In_Frame_Ins_p.570_570F>*V|ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron			Q9BY31	ZN717_HUMAN	zinc finger protein 717	570					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						TATAGTTAGGAATGACTTACAG	0.361																																																	0			3																																								75869735	SO:0001652	inframe_insertion	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.1579_1580insAAG	3.37:g.75787044_75787045insCTT	ENSP00000419377:p.Phe527delins*Val		75869734		In_Frame_Del	INS	ENST00000478296.1	37																																																																																					0.361	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223	
ZNF717	100131827	hgsc.bcm.edu	37	3	75787099	75787100	+	Frame_Shift_Del	DEL	CT	CT	-	rs146514807		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	CT	CT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:75787099_75787100delCT	ENST00000478296.1	-	4	1800_1801	c.1524_1525delAG	c.(1522-1527)acagggfs	p.G509fs	MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000422325.1_Frame_Shift_Del_p.G559fs|ZNF717_ENST00000400845.3_Frame_Shift_Del_p.G552fs|ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron			Q9BY31	ZN717_HUMAN	zinc finger protein 717	552					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						GGTTTTTCCCCTGTGTGAGTTC	0.391																																																	0			3																																								75869790	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.1524_1525delAG	3.37:g.75787099_75787100delCT	ENSP00000419377:p.Gly509fs		75869789		Frame_Shift_Del	DEL	ENST00000478296.1	37																																																																																					0.391	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223	
OR5K4	403278	hgsc.bcm.edu	37	3	98073592	98073592	+	Frame_Shift_Del	DEL	A	A	-	rs398102322|rs11288615	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:98073592delA	ENST00000354924.2	+	1	895	c.895delA	c.(895-897)aaafs	p.K300fs	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AAATGTTCTTAAAAAAATTAT	0.254													AAAAAAA|AAAAAAA|AAAAAA|deletion	1683	0.336062	0.2352	0.3588	5008	,	,		16327	0.1319		0.5875	False		,,,				2504	0.408																0			3											68.0	56.0	60.0					3																	98073592		2111	3952	6063	99556282	SO:0001589	frameshift_variant	403278				CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.895delA	3.37:g.98073592delA	ENSP00000347003:p.Lys300fs		99556282		Frame_Shift_Del	DEL	ENST00000354924.2	37	CCDS33802.1																																																																																				0.254	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1		
ATR	545	hgsc.bcm.edu	37	3	142274740	142274740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:142274740delT	ENST00000350721.4	-	10	2441	c.2320delA	c.(2320-2322)atafs	p.I774fs	ATR_ENST00000383101.3_Frame_Shift_Del_p.I710fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	774					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I774fs*5(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGACTAGGTATTTTTTTTTTC	0.328								Other conserved DNA damage response genes																																									1	Deletion - Frameshift(1)	breast(1)	3											72.0	79.0	77.0					3																	142274740		2203	4300	6503	143757430	SO:0001589	frameshift_variant	390502			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2320delA	3.37:g.142274740delT	ENSP00000343741:p.Ile774fs		143757430	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Frame_Shift_Del	DEL	ENST00000350721.4	37	CCDS3124.1																																																																																				0.328	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
MUC4	4585	hgsc.bcm.edu	37	3	195505908	195505955	+	In_Frame_Del	DEL	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	-	rs573106893|rs374377441|rs201002111|rs558861219|rs574445078|rs577069816|rs201499581|rs55789594|rs543820459|rs200786826|rs377017763|rs199963450	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr3:195505908_195505955delGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	ENST00000463781.3	-	2	12955_13002	c.12496_12543delGCTTCCTCAGTGTCCACAGGTCACGGCACCCCTCTTCCTGTCACCAGC	c.(12496-12543)gcttcctcagtgtccacaggtcacggcacccctcttcctgtcaccagcdel	p.ASSVSTGHGTPLPVTS4166del	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.ASSVSTGHGTPLPVTS4166del	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.A4166_S4181delASSVSTGHGTPLPVTS(2)|p.V4169V(1)|p.A4166T(1)|p.V4169A(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)		CTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACA	0.585																																																	5	Substitution - Missense(2)|Deletion - In frame(2)|Substitution - coding silent(1)	stomach(4)|upper_aerodigestive_tract(1)	3							,,	336,2928		86,164,1382					,,		0.0			13	856,5568		218,420,2574	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	304,584,3956	A1A1,A1R,RR		13.325,10.2941,12.3039	,,	,,		1192,8496				196990734	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.12496_12543delGCTTCCTCAGTGTCCACAGGTCACGGCACCCCTCTTCCTGTCACCAGC	3.37:g.195505908_195505955delGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	ENSP00000417498:p.Ala4166_Ser4181del		196990687	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																																																																																				0.585	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
APC	324	hgsc.bcm.edu	37	5	112175539	112175539	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr5:112175539delC	ENST00000457016.1	+	16	4628	c.4248delC	c.(4246-4248)ggcfs	p.G1416fs	APC_ENST00000257430.4_Frame_Shift_Del_p.G1416fs|APC_ENST00000508376.2_Frame_Shift_Del_p.G1416fs|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1416	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.I1417fs*2(3)|p.S1411fs*41(1)|p.Y1376fs*41(1)|p.K1192fs*3(1)|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)		TGGTAAGTGGCATTATAAGCC	0.473		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"""	7	Deletion - Frameshift(6)|Unknown(1)	large_intestine(5)|soft_tissue(1)|skin(1)	5	GRCh37	CD972011	APC	D							113.0	103.0	107.0					5																	112175539		2202	4300	6502	112203438	SO:0001589	frameshift_variant	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.4248delC	5.37:g.112175539delC	ENSP00000413133:p.Gly1416fs		112203438	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				0.473	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
CBWD6	644019	hgsc.bcm.edu	37	9	69218548	69218549	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr9:69218548_69218549insT	ENST00000377457.5	-	11	882_883	c.777_778insA	c.(775-780)aaacttfs	p.L260fs	CBWD6_ENST00000468061.1_5'UTR|CBWD6_ENST00000377449.1_Frame_Shift_Ins_p.L224fs|CBWD6_ENST00000382399.4_Frame_Shift_Ins_p.L240fs	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	260							ATP binding (GO:0005524)			lung(4)	4						ACATGCTGAAGTTTTTTCTGCA	0.307																																																	0			9																																								68508369	SO:0001589	frameshift_variant	644019				CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.778dupA	9.37:g.69218554_69218554dupT	ENSP00000366677:p.Leu260fs		68508368		Frame_Shift_Ins	INS	ENST00000377457.5	37	CCDS43827.1																																																																																				0.307	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822	
B3GNT6	192134	hgsc.bcm.edu	37	11	76751585	76751585	+	Frame_Shift_Del	DEL	T	T	-	rs11292199		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr11:76751585delT	ENST00000533140.1	+	2	1128	c.990delT	c.(988-990)cctfs	p.P330fs	B3GNT6_ENST00000421061.1_Splice_Site|B3GNT6_ENST00000354301.5_Splice_Site_p.W330fs			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GAGGGCATCCTGGCCCTTCGG	0.697													-|T|-|insertion	5008	1.0	1.0	1.0	5008	,	,		14204	1.0		1.0	False		,,,				2504	1.0																0			11											6.0	5.0	6.0					11																	76751585		1175	2610	3785	76429233	SO:0001589	frameshift_variant	192134			AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.990delT	11.37:g.76751585delT	ENSP00000435352:p.Pro330fs		76429233	Q4TTN0	Frame_Shift_Del	DEL	ENST00000533140.1	37	CCDS53681.1																																																																																				0.697	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706	
MMP12	4321	hgsc.bcm.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs112457531|rs5794199|rs199886633|rs68192524		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TGAGGAACAAGTGGTGCCTAAG	0.416																																																	0			11																																								102244004			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738794_102738794dupT			102244003	B2R9X8|B7ZLF6|Q2M1L9	Frame_Shift_Ins	INS	ENST00000532855.1	37																																																																																					0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426	
CASP5	838	hgsc.bcm.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-	rs372526393		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr11:104879687delT	ENST00000260315.3	-	2	27	c.28delA	c.(28-30)aggfs	p.R11fs	CASP5_ENST00000444749.2_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393141.2_Frame_Shift_Del_p.R24fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs			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	
KRT2	3849	hgsc.bcm.edu	37	12	53045642	53045653	+	In_Frame_Del	DEL	ACCACCTCCTCT	ACCACCTCCTCT	-			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	ACCACCTCCTCT	ACCACCTCCTCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr12:53045642_53045653delACCACCTCCTCT	ENST00000309680.3	-	1	295_306	c.274_285delAGAGGAGGTGGT	c.(274-285)agaggaggtggtdel	p.RGGG92del		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	92	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		cgcctccaaaaccacctcctctgccaccaaat	0.618																																																	0			12																																								51331920	SO:0001651	inframe_deletion	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.274_285delAGAGGAGGTGGT	12.37:g.53045642_53045653delACCACCTCCTCT	ENSP00000310861:p.Arg92_Gly95del		51331909	Q4VAQ2	In_Frame_Del	DEL	ENST00000309680.3	37	CCDS8835.1																																																																																				0.618	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423	
OR6C76	390326	hgsc.bcm.edu	37	12	55820959	55820959	+	Frame_Shift_Del	DEL	A	A	-	rs397719965|rs57387180		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr12:55820959delA	ENST00000328314.3	+	1	922	c.922delA	c.(922-924)aaafs	p.K311fs		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GATTTCCCACAAAAAAAAAAA	0.338																																																	0			12											19.0	20.0	19.0					12																	55820959		2110	4120	6230	54107226	SO:0001589	frameshift_variant	390326				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.922delA	12.37:g.55820959delA	ENSP00000328402:p.Lys311fs		54107226		Frame_Shift_Del	DEL	ENST00000328314.3	37	CCDS31823.1																																																																																				0.338	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183	
HEATR4	399671	hgsc.bcm.edu	37	14	73957981	73957982	+	Intron	INS	-	-	C	rs150704374|rs386381768		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr14:73957981_73957982insC	ENST00000553558.1	-	17	3166				HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron|C14orf169_ENST00000531973.1_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGCGGTGGCGGCGTCCCGGACG	0.757													CC|C|CC|deletion	5008	1.0	1.0	1.0	5008	,	,		10060	1.0		1.0	False		,,,				2504	1.0																0			14							,,	3399,47		1685,29,9					,,	1.1	0.0		dbSNP_130	8	7363,105		3646,71,17	no	intron,frameshift,intron	C14orf169,HEATR4	NM_203309.2,NM_024644.2,NM_001220484.1	,,	5331,100,26	A1A1,A1R,RR		1.406,1.3639,1.3927	,,	,,		10762,152				73027735	SO:0001627	intron_variant	79697			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2844+1787->G	14.37:g.73957982_73957982dupC			73027734	B7Z7V9|E9KL41	Frame_Shift_Ins	INS	ENST00000553558.1	37	CCDS9815.2																																																																																				0.757	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309	
AL133373.1	0	hgsc.bcm.edu	37	14	92040590	92040590	+	Frame_Shift_Del	DEL	C	C	-	rs34650717	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr14:92040590delC	ENST00000596306.1	-	1	793	c.367delG	c.(367-369)gagfs	p.E123fs																								Tcgggcgcctccgccccgcgc	0.736													CC|CC|C|deletion	2499	0.499002	0.4493	0.621	5008	,	,		12978	0.5179		0.4881	False		,,,				2504	0.4714																0			14								991,1125		318,355,385	3.0	4.0	3.0			0.5	0.0	14	dbSNP_126	5	2231,2317		695,841,738	no	intergenic				1013,1196,1123	A1A1,A1R,RR		49.0545,46.8336,48.3493			92040590	3222,3442	890	1912	2802	91110343	SO:0001589	frameshift_variant	0																														ENST00000596306.1:c.367delG	14.37:g.92040590delC	ENSP00000472226:p.Glu123fs		91110343		Frame_Shift_Del	DEL	ENST00000596306.1	37																																																																																					0.736	AL133373.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding			
MAP1A	4130	hgsc.bcm.edu	37	15	43820822	43820823	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr15:43820822_43820823insT	ENST00000300231.5	+	4	7601_7602	c.7151_7152insT	c.(7150-7155)gcttgcfs	p.C2385fs	MAP1A_ENST00000399453.1_Frame_Shift_Ins_p.C2385fs|MAP1A_ENST00000382031.1_Frame_Shift_Ins_p.C2623fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2385					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GAGGCTGCGGCTTGCCCTGCCT	0.639																																																	0			15																																								41608115	SO:0001589	frameshift_variant	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7153dupT	15.37:g.43820824_43820824dupT	ENSP00000300231:p.Cys2385fs		41608114	O95643|Q12973|Q15882|Q9UJT4	Frame_Shift_Ins	INS	ENST00000300231.5	37	CCDS42031.1																																																																																				0.639	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373	
CDH8	1006	hgsc.bcm.edu	37	16	61851549	61851550	+	Frame_Shift_Ins	INS	-	-	C	rs80346989		TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr16:61851549_61851550insC	ENST00000577390.1	-	7	2064_2065	c.1110_1111insG	c.(1108-1113)gggcccfs	p.P371fs	CDH8_ENST00000299345.6_Frame_Shift_Ins_p.P371fs|CDH8_ENST00000584337.1_Frame_Shift_Ins_p.P371fs|CDH8_ENST00000577730.1_Frame_Shift_Ins_p.P371fs	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	371	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)		TCTTTAAAGGGCCCCCTGCCAC	0.47																																																	0			16																																								60409051	SO:0001589	frameshift_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.1111dupG	16.37:g.61851554_61851554dupC	ENSP00000462701:p.Pro371fs		60409050	B3KWC1|Q14DC6|Q9ULB2	Frame_Shift_Ins	INS	ENST00000577390.1	37	CCDS10802.1																																																																																				0.470	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
KRTAP19-6	337973	hgsc.bcm.edu	37	21	31913982	31913982	+	Frame_Shift_Del	DEL	G	G	-	rs5843453|rs201420116|rs570064399	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr21:31913982delG	ENST00000334046.5	-	1	201	c.171delC	c.(169-171)ttcfs	p.F57fs		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	57						intermediate filament (GO:0005882)				breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						TTTTTTAGTAGAATCCAGAGA	0.463													?|G|-|unsure	3942	0.787141	0.9266	0.7421	5008	,	,		17489	0.7034		0.7127	False		,,,				2504	0.7935																0			21											33.0	58.0	51.0					21																	31913982		1069	2843	3912	30835853	SO:0001589	frameshift_variant	337973			AP001708	CCDS13598.1	21q22.1	2010-09-30			ENSG00000186925	ENSG00000186925		"""Keratin associated proteins"""	18941	protein-coding gene	gene with protein product						12359730	Standard	NM_181612		Approved	KAP19.6	uc002yok.1	Q3LI70	OTTHUMG00000057779	ENST00000334046.5:c.171delC	21.37:g.31913982delG	ENSP00000375107:p.Phe57fs		30835853	Q3LI71	Frame_Shift_Del	DEL	ENST00000334046.5	37	CCDS13598.1																																																																																				0.463	KRTAP19-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128231.4		
CDC42EP1	11135	hgsc.bcm.edu	37	22	37964409	37964429	+	In_Frame_Del	DEL	CAGCGCCTGCTGCAAACCCCT	CAGCGCCTGCTGCAAACCCCT	-	rs13056859|rs13055845|rs77417880|rs62235033|rs62235034|rs187761157|rs66468174|rs200195385	byFrequency	TCGA-CL-5917-01A-11D-1657-10	TCGA-CL-5917-10A-01D-1657-10	CAGCGCCTGCTGCAAACCCCT	CAGCGCCTGCTGCAAACCCCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	0253e8de-943f-450c-ac93-6ead3669dca4	f6aff8fa-b2c3-49cb-8408-cca274cc7d28	g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT	ENST00000249014.4	+	3	1178_1198	c.758_778delCAGCGCCTGCTGCAAACCCCT	c.(757-780)ccagcgcctgctgcaaacccctca>cca	p.APAANPS254del		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	254	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.N258_A264delNPSAPAA(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC	0.665																																																	3	Deletion - In frame(3)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)	22								868,3338		98,672,1333						1.5	0.0		dbSNP_130	10	4310,3696		1298,1714,991	no	coding	CDC42EP1	NM_152243.2		1396,2386,2324	A1A1,A1R,RR		46.1654,20.6372,42.4009				5178,7034				36294375	SO:0001651	inframe_deletion	11135			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.758_778delCAGCGCCTGCTGCAAACCCCT	22.37:g.37964409_37964429delCAGCGCCTGCTGCAAACCCCT	ENSP00000249014:p.Ala254_Ser260del		36294355	A8K825|Q96GN1	In_Frame_Del	DEL	ENST00000249014.4	37	CCDS13949.1																																																																																				0.665	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243	
