#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
LFNG	3955	hgsc.bcm.edu	37	7	2552885	2552885	+	Missense_Mutation	SNP	G	G	A	rs61564232		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr7:2552885G>A	ENST00000402506.1	+	2	268	c.142G>A	c.(142-144)Gga>Aga	p.G48R		NM_001166355.1	NP_001159827.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	0					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		atggacagatggatggatgga	0.567																																																	0			7											116.0	119.0	118.0					7																	2552885		1568	3582	5150	2519411	SO:0001583	missense	3955			BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000402506.1:c.142G>A	7.37:g.2552885G>A	ENSP00000385764:p.Gly48Arg		2519411	B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	ENST00000402506.1	37	CCDS55081.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813490	0.32053	.	.	ENSG00000106003	ENST00000402506	T	0.39787	1.06	2.17	-0.389	0.12455	.	.	.	.	.	T	0.24392	0.0591	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.22695	-1.0209	7	0.30854	T	0.27	.	4.4118	0.11436	0.6437:0.0:0.3563:0.0	.	.	.	.	R	48	ENSP00000385764:G48R	ENSP00000385764:G48R	G	+	1	0	LFNG	2519411	0.015000	0.18098	0.002000	0.10522	0.006000	0.05464	0.517000	0.22832	-0.065000	0.13021	-0.458000	0.05436	GGA		0.567	LFNG-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000325023.1	NM_002304	
DNAH11	8701	hgsc.bcm.edu	37	7	21639550	21639550	+	Missense_Mutation	SNP	T	T	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr7:21639550T>G	ENST00000409508.3	+	15	2844	c.2813T>G	c.(2812-2814)tTg>tGg	p.L938W	DNAH11_ENST00000328843.6_Missense_Mutation_p.L938W	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	938	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGAAACAATTGAAACCGGCA	0.398									Kartagener syndrome																																								0			7											87.0	82.0	83.0					7																	21639550		1837	4076	5913	21606075	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2813T>G	7.37:g.21639550T>G	ENSP00000475939:p.Leu938Trp		21606075	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	T	12.15	1.852563	0.32699	.	.	ENSG00000105877	ENST00000328843	T	0.24151	1.87	5.58	3.21	0.36854	.	0.618279	0.14917	N	0.290903	T	0.37156	0.0993	.	.	.	0.09310	N	0.999995	D	0.61697	0.99	P	0.54889	0.763	T	0.12218	-1.0556	9	0.51188	T	0.08	.	10.0773	0.42368	0.0:0.127:0.0:0.873	.	938	Q96DT5	DYH11_HUMAN	W	938	ENSP00000330671:L938W	ENSP00000330671:L938W	L	+	2	0	DNAH11	21606075	0.002000	0.14202	0.187000	0.23214	0.109000	0.19521	0.144000	0.16135	0.494000	0.27859	0.459000	0.35465	TTG		0.398	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
HOXA7	3204	hgsc.bcm.edu	37	7	27194724	27194724	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr7:27194724G>A	ENST00000242159.3	-	2	630	c.497C>T	c.(496-498)gCg>gTg	p.A166V	HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521231.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000524304.1_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	166					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GAGGCAGAGCGCGTGGGCGAT	0.617																																																	0			7											92.0	101.0	98.0					7																	27194724		2203	4300	6503	27161249	SO:0001583	missense	23054				CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.497C>T	7.37:g.27194724G>A	ENSP00000242159:p.Ala166Val		27161249	A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	37	CCDS5408.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573742	0.86542	.	.	ENSG00000122592	ENST00000242159	D	0.96265	-3.96	4.96	4.96	0.65561	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96106	0.8731	L	0.42245	1.32	0.80722	D	1	P	0.42785	0.79	P	0.51229	0.663	D	0.96109	0.9075	10	0.48119	T	0.1	.	18.2675	0.90056	0.0:0.0:1.0:0.0	.	166	P31268	HXA7_HUMAN	V	166	ENSP00000242159:A166V	ENSP00000242159:A166V	A	-	2	0	HOXA7	27161249	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.697000	0.98697	2.324000	0.78689	0.456000	0.33151	GCG		0.617	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1		
ANLN	54443	hgsc.bcm.edu	37	7	36459854	36459854	+	Missense_Mutation	SNP	A	A	G	rs267601502		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr7:36459854A>G	ENST00000265748.2	+	11	2167	c.1946A>G	c.(1945-1947)cAa>cGa	p.Q649R	ANLN_ENST00000396068.2_Missense_Mutation_p.Q612R	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	649	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.Q649R(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GGAAAATTCCAAAGAACTCGT	0.433																																																	1	Substitution - Missense(1)	skin(1)	7											110.0	107.0	108.0					7																	36459854		2203	4300	6503	36426379	SO:0001583	missense	54443			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1946A>G	7.37:g.36459854A>G	ENSP00000265748:p.Gln649Arg		36426379	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	CCDS5447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.181919|4.181919	0.78677|0.78677	.|.	.|.	ENSG00000011426|ENSG00000011426	ENST00000446635|ENST00000265748;ENST00000396068	.|T;T	.|0.15256	.|2.44;2.55	5.84|5.84	3.35|3.35	0.38373|0.38373	.|.	.|0.049328	.|0.85682	.|D	.|0.000000	T|T	0.31918|0.31918	0.0812|0.0812	L|L	0.55481|0.55481	1.735|1.735	0.48236|0.48236	D|D	0.999617|0.999617	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.959;0.998;0.999;0.998	T|T	0.02933|0.02933	-1.1092|-1.1092	5|10	.|0.72032	.|D	.|0.01	-9.0813|-9.0813	7.2941|7.2941	0.26383|0.26383	0.7823:0.1446:0.0731:0.0|0.7823:0.1446:0.0731:0.0	.|.	.|526;611;612;649	.|B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.|.;.;.;ANLN_HUMAN	E|R	8|649;612	.|ENSP00000265748:Q649R;ENSP00000379380:Q612R	.|ENSP00000265748:Q649R	K|Q	+|+	1|2	0|0	ANLN|ANLN	36426379|36426379	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.997000|0.997000	0.91878|0.91878	4.188000|4.188000	0.58351|0.58351	1.054000|1.054000	0.40438|0.40438	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.433	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685	
ELMO1	9844	hgsc.bcm.edu	37	7	36934508	36934508	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr7:36934508G>A	ENST00000310758.4	-	17	2199	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	ELMO1_ENST00000442504.1_Missense_Mutation_p.R518C|ELMO1_ENST00000341056.3_Missense_Mutation_p.R220C|ELMO1_ENST00000396040.2_Missense_Mutation_p.R38C|ELMO1_ENST00000396045.3_Missense_Mutation_p.R38C|ELMO1_ENST00000448602.1_Missense_Mutation_p.R518C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	518					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCGGACTGGCGGATTTTCAGG	0.478																																																	0			7											188.0	168.0	175.0					7																	36934508		2203	4300	6503	36901033	SO:0001583	missense	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1552C>T	7.37:g.36934508G>A	ENSP00000312185:p.Arg518Cys		36901033	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	34	5.394510	0.96009	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.71169	0.3308	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.72795	-0.4185	10	0.66056	D	0.02	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	518	Q92556	ELMO1_HUMAN	C	220;38;518;422;38;518;518	ENSP00000342142:R220C;ENSP00000379360:R38C;ENSP00000312185:R518C;ENSP00000379355:R38C;ENSP00000406952:R518C;ENSP00000394458:R518C	ENSP00000312185:R518C	R	-	1	0	ELMO1	36901033	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.805000	0.96524	0.655000	0.94253	CGC		0.478	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	
RFC2	5982	hgsc.bcm.edu	37	7	73668637	73668637	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr7:73668637T>C	ENST00000055077.3	-	1	137	c.77A>G	c.(76-78)aAg>aGg	p.K26R	RFC2_ENST00000352131.3_Missense_Mutation_p.K26R	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	26					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)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						GCCGGGGGCCTTGCTGAAGGC	0.701																																																	0			7											26.0	23.0	24.0					7																	73668637		2201	4298	6499	73306573	SO:0001583	missense	5982				CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"""ATPases / AAA-type"""	9970	protein-coding gene	gene with protein product	"""activator 1"""	600404	"""replication factor C (activator 1) 2 (40kD)"""			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.77A>G	7.37:g.73668637T>C	ENSP00000055077:p.Lys26Arg		73306573	B5BU07|D3DXG3|P32846|Q9BU93	Missense_Mutation	SNP	ENST00000055077.3	37	CCDS5568.1	.	.	.	.	.	.	.	.	.	.	T	12.61	1.990022	0.35131	.	.	ENSG00000049541	ENST00000352131;ENST00000055077	T;T	0.18657	2.2;2.47	4.89	2.51	0.30379	.	0.697856	0.14749	N	0.300700	T	0.16085	0.0387	L	0.50333	1.59	0.26296	N	0.978049	B;B	0.26744	0.128;0.158	B;B	0.20384	0.01;0.029	T	0.24905	-1.0147	10	0.20519	T	0.43	-33.8697	6.489	0.22105	0.0:0.1927:0.0:0.8073	.	26;26	Q75MT5;P35250	.;RFC2_HUMAN	R	26	ENSP00000275627:K26R;ENSP00000055077:K26R	ENSP00000055077:K26R	K	-	2	0	RFC2	73306573	0.722000	0.28017	0.863000	0.33907	0.049000	0.14656	0.422000	0.21296	0.445000	0.26639	0.533000	0.62120	AAG		0.701	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252459.2	NM_181471	
PHTF2	57157	hgsc.bcm.edu	37	7	77583124	77583124	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr7:77583124G>T	ENST00000248550.7	+	18	2326	c.2250G>T	c.(2248-2250)atG>atT	p.M750I	PHTF2_ENST00000422959.2_Missense_Mutation_p.M716I|PHTF2_ENST00000275575.7_Missense_Mutation_p.M660I|PHTF2_ENST00000416283.2_Missense_Mutation_p.M716I|PHTF2_ENST00000307305.8_Missense_Mutation_p.M712I			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	750					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GGCTTACAATGAATCCGCTGC	0.373																																																	0			7											175.0	165.0	168.0					7																	77583124		1840	4083	5923	77421060	SO:0001583	missense	57157			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.2250G>T	7.37:g.77583124G>T	ENSP00000248550:p.Met750Ile		77421060	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37		.	.	.	.	.	.	.	.	.	.	G	29.6	5.020485	0.93462	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	L	0.42245	1.32	0.80722	D	1	P;D;P;D	0.64830	0.872;0.962;0.95;0.994	P;D;P;P	0.66716	0.611;0.946;0.621;0.85	T	0.70281	-0.4915	9	0.36615	T	0.2	-18.4938	19.1966	0.93691	0.0:0.0:1.0:0.0	.	660;716;750;712	Q8N3S3-4;Q8N3S3-2;Q8N3S3;Q8N3S3-3	.;.;PHTF2_HUMAN;.	I	716;716;712;660;716;750	.	ENSP00000248550:M750I	M	+	3	0	PHTF2	77421060	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.829000	0.86735	2.532000	0.85374	0.563000	0.77884	ATG		0.373	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432	
PCLO	27445	hgsc.bcm.edu	37	7	82581494	82581494	+	Missense_Mutation	SNP	T	T	A	rs78195222		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr7:82581494T>A	ENST00000333891.9	-	5	9112	c.8775A>T	c.(8773-8775)gaA>gaT	p.E2925D	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.E2925D	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E2925D(2)|p.E2856D(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTTTTCATCTTCTATTATTT	0.438																																																	3	Substitution - Missense(3)	central_nervous_system(3)	7											139.0	137.0	137.0					7																	82581494		1905	4127	6032	82419430	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8775A>T	7.37:g.82581494T>A	ENSP00000334319:p.Glu2925Asp		82419430		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	9.279	1.047607	0.19827	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18810	2.19;2.2	5.68	0.559	0.17272	.	.	.	.	.	T	0.19005	0.0456	M	0.61703	1.905	0.80722	D	1	B;B	0.24043	0.096;0.096	B;B	0.19666	0.026;0.026	T	0.05920	-1.0856	9	0.87932	D	0	.	5.3684	0.16127	0.1196:0.2007:0.0:0.6797	.	2925;2925	Q9Y6V0-5;Q9Y6V0-6	.;.	D	2856;2925;2925	ENSP00000334319:E2925D;ENSP00000388393:E2925D	ENSP00000334319:E2925D	E	-	3	2	PCLO	82419430	0.999000	0.42202	1.000000	0.80357	0.858000	0.48976	0.471000	0.22100	0.071000	0.16664	-0.490000	0.04691	GAA		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
ALKBH4	54784	hgsc.bcm.edu	37	7	102100076	102100076	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr7:102100076A>G	ENST00000292566.3	-	2	335	c.296T>C	c.(295-297)cTc>cCc	p.L99P		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	99					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			kidney(1)|lung(5)|skin(2)	8						AGACTGGGAGAGCTTCCAGGG	0.647																																																	0			7											107.0	98.0	101.0					7																	102100076		2203	4300	6503	101887081	SO:0001583	missense	54784			BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"""Alkylation repair homologs"""	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.296T>C	7.37:g.102100076A>G	ENSP00000292566:p.Leu99Pro		101887081	Q53H92|Q9H6A4	Missense_Mutation	SNP	ENST00000292566.3	37	CCDS5723.1	.	.	.	.	.	.	.	.	.	.	A	8.416	0.845354	0.16963	.	.	ENSG00000160993	ENST00000292566	T	0.43688	0.94	3.99	1.51	0.23008	.	0.712770	0.13565	N	0.378441	T	0.24470	0.0593	N	0.20401	0.57	0.58432	D	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.05007	-1.0912	10	0.27785	T	0.31	-23.1124	7.057	0.25106	0.6894:0.0:0.3106:0.0	.	99	Q9NXW9	ALKB4_HUMAN	P	99	ENSP00000292566:L99P	ENSP00000292566:L99P	L	-	2	0	ALKBH4	101887081	0.138000	0.22547	0.979000	0.43373	0.849000	0.48306	0.524000	0.22940	0.121000	0.18284	0.459000	0.35465	CTC		0.647	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621	
EPHB6	2051	hgsc.bcm.edu	37	7	142566366	142566366	+	Silent	SNP	C	C	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr7:142566366C>A	ENST00000392957.2	+	15	2942	c.2155C>A	c.(2155-2157)Cgg>Agg	p.R719R	EPHB6_ENST00000442129.1_Silent_p.R719R|EPHB6_ENST00000411471.2_Silent_p.R442R	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	719	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.R704W(2)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTTCCTGGGCCGGGCCGCAGT	0.692																																																	2	Substitution - Missense(2)	pancreas(1)|skin(1)	7											26.0	27.0	27.0					7																	142566366		2203	4298	6501	142276488	SO:0001819	synonymous_variant	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2155C>A	7.37:g.142566366C>A			142276488	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	CCDS5873.2																																																																																				0.692	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1		
SSPO	23145	hgsc.bcm.edu	37	7	149521570	149521570	+	RNA	SNP	C	C	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr7:149521570C>G	ENST00000378016.2	+	0	13649							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCAGGACTGCCCTAGAGGAG	0.687																																																	0			7											24.0	29.0	28.0					7																	149521570		2034	4165	6199	149152503			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149521570C>G			149152503	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																					0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
AOC1	26	hgsc.bcm.edu	37	7	150554581	150554581	+	Silent	SNP	C	C	T	rs553084982		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr7:150554581C>T	ENST00000493429.1	+	4	1607	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	AOC1_ENST00000360937.4_Silent_p.F341F|AOC1_ENST00000416793.2_Silent_p.F341F|AOC1_ENST00000467291.1_Silent_p.F341F			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	341					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	ACGTGCACTTCGGCGGAGAGC	0.632																																																	0			7											51.0	53.0	53.0					7																	150554581		2203	4299	6502	150185514	SO:0001819	synonymous_variant	28988			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1023C>T	7.37:g.150554581C>T			150185514	C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	CCDS43679.1																																																																																				0.632	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091	
PAXIP1	22976	hgsc.bcm.edu	37	7	154760440	154760440	+	Missense_Mutation	SNP	A	A	G	rs550122265	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr7:154760440A>G	ENST00000404141.1	-	7	1625	c.1471T>C	c.(1471-1473)Ttt>Ctt	p.F491L	PAXIP1_ENST00000397192.1_Missense_Mutation_p.F491L|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	491	Gln-rich.			Missing (in Ref. 4; AAB91434). {ECO:0000305}.	adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		tgctgctgaaagggctggagc	0.597																																																	0			7											31.0	37.0	35.0					7																	154760440		1807	3276	5083	154391373	SO:0001583	missense	22976			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1471T>C	7.37:g.154760440A>G	ENSP00000384048:p.Phe491Leu		154391373	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	A	3.265	-0.150294	0.06585	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000323199	D;D	0.89485	-2.52;-2.52	4.66	3.51	0.40186	.	0.000000	0.36066	U	0.002815	T	0.73024	0.3534	N	0.11201	0.11	0.24176	N	0.9956	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.55780	-0.8087	10	0.10377	T	0.69	-5.7397	6.5946	0.22666	0.7961:0.0:0.2039:0.0	.	444;400;457;491	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	L	491;491;444	ENSP00000384048:F491L;ENSP00000380376:F491L	ENSP00000319149:F444L	F	-	1	0	PAXIP1	154391373	0.974000	0.33945	0.106000	0.21319	0.868000	0.49771	2.004000	0.40854	0.645000	0.30675	0.528000	0.53228	TTT		0.597	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349	
NOM1	64434	hgsc.bcm.edu	37	7	156762248	156762248	+	Missense_Mutation	SNP	G	G	A	rs12919	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr7:156762248G>A	ENST00000275820.3	+	11	2449	c.2434G>A	c.(2434-2436)Gtg>Atg	p.V812M		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	812			V -> M (in dbSNP:rs12919).			nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAAGCTGGGGGTGTTACGTGA	0.512													A|||	2411	0.48143	0.556	0.536	5008	,	,		16487	0.2778		0.5706	False		,,,				2504	0.4601																0			7						A	MET/VAL	2437,1969	555.5+/-379.3	672,1093,438	107.0	109.0	108.0		2434	-3.1	0.0	7	dbSNP_52	108	4907,3693	529.1+/-381.5	1388,2131,781	yes	missense	NOM1	NM_138400.1	21	2060,3224,1219	AA,AG,GG		42.9419,44.6891,43.5338	benign	812/861	156762248	7344,5662	2203	4300	6503	156455009	SO:0001583	missense	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.2434G>A	7.37:g.156762248G>A	ENSP00000275820:p.Val812Met		156455009	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	1047	0.4793956043956044	274	0.556910569105691	199	0.5497237569060773	154	0.2692307692307692	420	0.554089709762533	A	0.021	-1.421065	0.01126	0.553109	0.570581	ENSG00000146909	ENST00000275820	T	0.11169	2.8	5.41	-3.13	0.05266	.	0.201867	0.64402	N	0.000012	T	0.00012	0.0000	N	0.00138	-2.015	0.80722	P	0.0	B	0.09022	0.002	B	0.08055	0.003	T	0.20009	-1.0288	9	0.15066	T	0.55	-9.8241	3.0886	0.06286	0.4413:0.1173:0.3376:0.1038	rs12919;rs17354962;rs56648938;rs61096186;rs12919	812	Q5C9Z4	NOM1_HUMAN	M	812	ENSP00000275820:V812M	ENSP00000275820:V812M	V	+	1	0	NOM1	156455009	0.011000	0.17503	0.001000	0.08648	0.280000	0.26924	-0.199000	0.09491	-1.325000	0.02269	-0.516000	0.04426	GTG		0.512	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	
PTPRN2	5799	hgsc.bcm.edu	37	7	158109546	158109546	+	Missense_Mutation	SNP	C	C	T	rs145815332		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr7:158109546C>T	ENST00000389418.4	-	3	251	c.242G>A	c.(241-243)cGc>cAc	p.R81H	PTPRN2_ENST00000404321.2_Missense_Mutation_p.R104H|PTPRN2_ENST00000409483.1_Intron|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R64H|PTPRN2_ENST00000389413.3_Missense_Mutation_p.R81H	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	81					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R81L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CACGCGCAGGCGCTGCAGGGC	0.642																																																	1	Substitution - Missense(1)	lung(1)	7							HIS/ARG,HIS/ARG,HIS/ARG	0,4404		0,0,2202	54.0	49.0	50.0		242,191,242	1.2	0.9	7	dbSNP_134	50	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	29,29,29	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	benign,benign,benign	81/1016,64/999,81/987	158109546	3,13001	2202	4300	6502	157802307	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.242G>A	7.37:g.158109546C>T	ENSP00000374069:p.Arg81His		157802307	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	2.554	-0.303442	0.05495	0.0	3.49E-4	ENSG00000155093	ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T	0.03035	4.09;4.07;4.08;4.09	4.88	1.21	0.21127	.	.	.	.	.	T	0.02848	0.0085	N	0.20574	0.59	0.25779	N	0.984756	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.44787	-0.9305	9	0.31617	T	0.26	.	9.0756	0.36519	0.0:0.4239:0.0:0.5761	.	104;81;64;81	Q92932-3;Q92932-2;E9PC57;Q92932	.;.;.;PTPR2_HUMAN	H	81;64;81;104	ENSP00000374064:R81H;ENSP00000374067:R64H;ENSP00000374069:R81H;ENSP00000385464:R104H	ENSP00000374064:R81H	R	-	2	0	PTPRN2	157802307	0.948000	0.32251	0.867000	0.34043	0.042000	0.13812	-0.013000	0.12678	-0.023000	0.13963	-0.312000	0.09012	CGC		0.642	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		
SNAP25	6616	hgsc.bcm.edu	37	20	10277601	10277601	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr20:10277601G>T	ENST00000254976.2	+	6	521	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S	SNAP25_ENST00000304886.2_Missense_Mutation_p.A104S|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000495883.1_3'UTR	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	104					energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	TTACAAAAAAGCCTGGGGCAA	0.537																																																	0			20											79.0	77.0	78.0					20																	10277601		2203	4300	6503	10225601	SO:0001583	missense	6616				CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.310G>T	20.37:g.10277601G>T	ENSP00000254976:p.Ala104Ser		10225601	B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Missense_Mutation	SNP	ENST00000254976.2	37	CCDS13110.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785701	0.49997	.	.	ENSG00000132639	ENST00000254976;ENST00000304886	.	.	.	5.86	5.86	0.93980	SNAP-25 (1);	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	L	0.50333	1.59	0.80722	D	1	B;B	0.19331	0.035;0.002	B;B	0.18871	0.023;0.011	T	0.53365	-0.8449	9	0.17369	T	0.5	-7.0596	20.1996	0.98256	0.0:0.0:1.0:0.0	.	104;104	P60880-2;P60880	.;SNP25_HUMAN	S	104	.	ENSP00000254976:A104S	A	+	1	0	SNAP25	10225601	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.776000	0.95493	0.650000	0.86243	GCC		0.537	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077976.3	NM_130811	
REM1	28954	hgsc.bcm.edu	37	20	30064410	30064410	+	Silent	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr20:30064410T>C	ENST00000201979.2	+	2	455	c.162T>C	c.(160-162)ccT>ccC	p.P54P	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	54					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCCTCAACCCTCCCACCCAGA	0.627																																																	0			20											77.0	75.0	76.0					20																	30064410		2203	4300	6503	29528071	SO:0001819	synonymous_variant	28954			AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.162T>C	20.37:g.30064410T>C			29528071	E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Silent	SNP	ENST00000201979.2	37	CCDS13181.1																																																																																				0.627	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012	
GSS	2937	hgsc.bcm.edu	37	20	33529527	33529527	+	Silent	SNP	G	G	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr20:33529527G>A	ENST00000216951.2	-	6	695	c.597C>T	c.(595-597)taC>taT	p.Y199Y	GSS_ENST00000451957.2_Intron|GSS_ENST00000541098.1_Silent_p.Y71Y	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	199					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TGGGTGAGCCGTAGAGCTCCC	0.488																																																	0			20											94.0	89.0	91.0					20																	33529527		2203	4300	6503	32993188	SO:0001819	synonymous_variant	5621				CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.597C>T	20.37:g.33529527G>A			32993188	B2R697|B6F210|E1P5P9|Q4TTD9	Silent	SNP	ENST00000216951.2	37	CCDS13245.1																																																																																				0.488	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2		
MYH7B	57644	hgsc.bcm.edu	37	20	33568412	33568412	+	Missense_Mutation	SNP	A	A	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr20:33568412A>T	ENST00000262873.7	+	6	592	c.500A>T	c.(499-501)aAc>aTc	p.N167I	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	125	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GTCACCATCAACCCCTACAAA	0.527																																																	0			20											154.0	164.0	161.0					20																	33568412		2195	4300	6495	33032073	SO:0001583	missense	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.500A>T	20.37:g.33568412A>T	ENSP00000262873:p.Asn167Ile		33032073	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.737901	0.89573	.	.	ENSG00000078814	ENST00000262873	D	0.96745	-4.11	4.46	4.46	0.54185	Myosin head, motor domain (3);	0.000000	0.41396	D	0.000883	D	0.99193	0.9720	H	0.99973	5.135	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	D	0.97964	1.0339	10	0.87932	D	0	.	14.1848	0.65598	1.0:0.0:0.0:0.0	.	125	A7E2Y1	MYH7B_HUMAN	I	167	ENSP00000262873:N167I	ENSP00000262873:N167I	N	+	2	0	MYH7B	33032073	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.139000	0.94554	2.001000	0.58596	0.533000	0.62120	AAC		0.527	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884	
C20orf173	140873	hgsc.bcm.edu	37	20	34117196	34117196	+	Intron	SNP	G	G	A	rs78324737	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr20:34117196G>A	ENST00000246199.2	-	2	61				C20orf173_ENST00000444723.1_Missense_Mutation_p.R3C|RP3-477O4.5_ENST00000422009.1_RNA|C20orf173_ENST00000374345.4_Missense_Mutation_p.R3C			Q96LM9	CT173_HUMAN	chromosome 20 open reading frame 173											haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						ATCTGCCAGCGCTTCATGTCT	0.582													G|||	82	0.0163738	0.0582	0.0072	5008	,	,		17119	0.0		0.0	False		,,,				2504	0.0																0			20						G	CYS/ARG	73,1311		1,71,620	60.0	52.0	55.0		7	-5.9	0.0	20	dbSNP_131	55	4,3178		0,4,1587	no	missense	C20orf173	NM_001145350.1	180	1,75,2207	AA,AG,GG		0.1257,5.2746,1.6864	possibly-damaging	3/203	34117196	77,4489	692	1591	2283	33580610	SO:0001627	intron_variant	140873			AL121586	CCDS46594.1	20q11.22	2012-10-30			ENSG00000125975	ENSG00000125975			16166	protein-coding gene	gene with protein product							Standard	NM_001145350		Approved	dJ477O4.4	uc010zvf.1	Q96LM9	OTTHUMG00000032340	ENST00000246199.2:c.218-120C>T	20.37:g.34117196G>A			33580610	A6PVJ1|Q2M293|Q5JWS4|Q9H449	Missense_Mutation	SNP	ENST00000246199.2	37		36	0.016483516483516484	31	0.06300813008130081	5	0.013812154696132596	0	0.0	0	0.0	G	12.23	1.874557	0.33069	0.052746	0.001257	ENSG00000125975	ENST00000444723;ENST00000374345	T	0.46451	0.87	4.15	-5.9	0.02275	.	3.237630	0.00610	N	0.000419	T	0.03434	0.0099	L	0.34521	1.04	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.16158	-1.0412	10	0.66056	D	0.02	.	4.76	0.13102	0.5014:0.0:0.2442:0.2544	.	3	E9PFA0	.	C	3	ENSP00000403566:R3C	ENSP00000363465:R3C	R	-	1	0	C20orf173	33580610	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-0.920000	0.04013	-1.210000	0.02627	0.558000	0.71614	CGC		0.582	C20orf173-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078874.6	NM_001145350	
BPI	671	hgsc.bcm.edu	37	20	36932648	36932648	+	Missense_Mutation	SNP	C	C	T	rs5743498|rs397794979	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr20:36932648C>T	ENST00000262865.4	+	1	124	c.35C>T	c.(34-36)gCg>gTg	p.A12V	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	12			A -> T (in dbSNP:rs5743497).|A -> V (in dbSNP:rs5743498).		defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCTTGCAACGCGCCGAGATGG	0.622													C|||	15	0.00299521	0.0113	0.0	5008	,	,		16733	0.0		0.0	False		,,,				2504	0.0																0			20						C	VAL/ALA	51,4355	50.2+/-85.5	0,51,2152	73.0	73.0	73.0		35	-3.9	0.0	20	dbSNP_114	73	0,8600		0,0,4300	yes	missense	BPI	NM_001725.2	64	0,51,6452	TT,TC,CC		0.0,1.1575,0.3921	benign	12/488	36932648	51,12955	2203	4300	6503	36366062	SO:0001583	missense	671			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.35C>T	20.37:g.36932648C>T	ENSP00000262865:p.Ala12Val		36366062	B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	CCDS13303.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	2.080	-0.410868	0.04799	0.011575	0.0	ENSG00000101425	ENST00000418004;ENST00000262865	T;T	0.22539	1.95;3.34	3.16	-3.88	0.04205	.	2.211740	0.02188	N	0.061062	T	0.06826	0.0174	N	0.17674	0.51	0.09310	N	1	B	0.21905	0.062	B	0.08055	0.003	T	0.21586	-1.0241	10	0.02654	T	1	-0.003	4.7158	0.12894	0.1638:0.2728:0.0:0.5635	rs5743498;rs52790490;rs5743498	12	P17213	BPI_HUMAN	V	95;12	ENSP00000393126:A95V;ENSP00000262865:A12V	ENSP00000262865:A12V	A	+	2	0	BPI	36366062	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.810000	0.01729	-0.896000	0.03915	-0.816000	0.03127	GCG		0.622	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725	
ZHX3	23051	hgsc.bcm.edu	37	20	39832940	39832940	+	Missense_Mutation	SNP	A	A	G	rs539008791		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr20:39832940A>G	ENST00000309060.3	-	4	1032	c.617T>C	c.(616-618)gTc>gCc	p.V206A	ZHX3_ENST00000558993.1_Missense_Mutation_p.V206A|ZHX3_ENST00000540170.1_Missense_Mutation_p.V206A|ZHX3_ENST00000559234.1_Missense_Mutation_p.V206A|ZHX3_ENST00000560361.1_Missense_Mutation_p.V206A|ZHX3_ENST00000432768.2_Missense_Mutation_p.V206A|ZHX3_ENST00000544979.2_Missense_Mutation_p.V206A|ZHX3_ENST00000557816.1_Missense_Mutation_p.V206A			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	206					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CTGGCTAGGGACATTCTCCTT	0.473													A|||	1	0.000199681	0.0	0.0	5008	,	,		20619	0.0		0.001	False		,,,				2504	0.0																0			20											123.0	115.0	118.0					20																	39832940		2203	4300	6503	39266354	SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.617T>C	20.37:g.39832940A>G	ENSP00000312222:p.Val206Ala		39266354	E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.254279	0.39896	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000432768	T;T;T;T;T	0.30714	1.52;2.92;2.92;2.7;1.52	6.07	1.18	0.20946	.	1.362780	0.04438	N	0.370301	T	0.16938	0.0407	N	0.16478	0.41	0.09310	N	1	B;B;B;B	0.11235	0.0;0.0;0.001;0.004	B;B;B;B	0.11329	0.001;0.001;0.004;0.006	T	0.20240	-1.0281	10	0.06891	T	0.86	-1.8098	5.6543	0.17635	0.6578:0.1306:0.2115:0.0	.	206;206;206;206	A8K8Q0;Q9H4I2;F5H820;F6R4Q5	.;ZHX3_HUMAN;.;.	A	206	ENSP00000312222:V206A;ENSP00000362360:V206A;ENSP00000442290:V206A;ENSP00000443783:V206A;ENSP00000415498:V206A	ENSP00000312222:V206A	V	-	2	0	ZHX3	39266354	0.018000	0.18449	0.000000	0.03702	0.993000	0.82548	1.549000	0.36212	0.169000	0.19679	0.533000	0.62120	GTC		0.473	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035	
TP53TG5	27296	hgsc.bcm.edu	37	20	44005966	44005966	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr20:44005966G>A	ENST00000372726.3	-	3	296	c.140C>T	c.(139-141)tCg>tTg	p.S47L	SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000494455.1_5'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.S31L	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	47					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CTTCAAGAGCGACAAGTTTTT	0.512																																																	0			20											131.0	130.0	130.0					20																	44005966		2203	4300	6503	43439380	SO:0001583	missense	27296			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.140C>T	20.37:g.44005966G>A	ENSP00000361811:p.Ser47Leu		43439380		Missense_Mutation	SNP	ENST00000372726.3	37	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970101	0.74246	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.27104	1.69;1.69	5.52	4.56	0.56223	.	0.238705	0.30093	N	0.010430	T	0.26085	0.0636	L	0.47190	1.495	0.33948	D	0.644054	P	0.51791	0.948	B	0.43889	0.435	T	0.47005	-0.9150	10	0.87932	D	0	-4.5467	11.5749	0.50856	0.0836:0.0:0.9164:0.0	.	47	Q9Y2B4	T53G5_HUMAN	L	47;31	ENSP00000361811:S47L;ENSP00000438374:S31L	ENSP00000361811:S47L	S	-	2	0	TP53TG5	43439380	0.998000	0.40836	0.861000	0.33841	0.789000	0.44602	3.425000	0.52771	1.467000	0.48044	0.655000	0.94253	TCG		0.512	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477	
SLC2A10	81031	hgsc.bcm.edu	37	20	45354159	45354159	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr20:45354159T>C	ENST00000359271.2	+	2	734	c.484T>C	c.(484-486)Tgg>Cgg	p.W162R		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	162					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGGTACCCCCTGGGGATGGAG	0.617																																																	0			20											90.0	72.0	78.0					20																	45354159		2203	4300	6503	44787566	SO:0001583	missense	81031			AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.484T>C	20.37:g.45354159T>C	ENSP00000352216:p.Trp162Arg		44787566	A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	T	0.028	-1.357100	0.01245	.	.	ENSG00000197496	ENST00000359271	T	0.81415	-1.49	5.58	-11.2	0.00127	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.053350	0.07345	N	0.881438	T	0.65491	0.2696	L	0.46157	1.445	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.37842	-0.9688	10	0.23891	T	0.37	0.4064	7.1885	0.25813	0.1295:0.3713:0.4003:0.0989	.	162	O95528	GTR10_HUMAN	R	162	ENSP00000352216:W162R	ENSP00000352216:W162R	W	+	1	0	SLC2A10	44787566	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.793000	0.04589	-2.741000	0.00379	-0.969000	0.02612	TGG		0.617	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2		
GNAS	2778	hgsc.bcm.edu	37	20	57484596	57484596	+	Missense_Mutation	SNP	A	A	G	rs121913494		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr20:57484596A>G	ENST00000371085.3	+	9	1104	c.680A>G	c.(679-681)cAg>cGg	p.Q227R	GNAS_ENST00000265620.7_Missense_Mutation_p.Q212R|GNAS_ENST00000354359.7_Missense_Mutation_p.Q228R|GNAS_ENST00000306090.10_Missense_Mutation_p.Q213R|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.Q870R|GNAS_ENST00000371095.3_Missense_Mutation_p.Q213R|GNAS_ENST00000371102.4_Missense_Mutation_p.Q856R|GNAS_ENST00000313949.7_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	227			Q -> H (in pituitary adenoma; ACTH- secreting adenoma; in a patient with severe Cushing syndrome complicated by psychosis). {ECO:0000269|PubMed:7737262}.|Q -> R (in somatotrophinoma). {ECO:0000269|PubMed:2549426}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.Q227L(10)|p.Q227R(8)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTGGGTGGCCAGCGCGATGAA	0.507			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	18	Substitution - Missense(18)	pituitary(17)|thyroid(1)	20											108.0	91.0	97.0					20																	57484596		2203	4300	6503	56917991	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.680A>G	20.37:g.57484596A>G	ENSP00000360126:p.Gln227Arg		56917991	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338864	0.60963	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.59	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.95201	0.8444	H	0.98466	4.24	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.996;1.0	D;D;D;D	0.79108	0.992;0.989;0.968;0.99	D	0.96067	0.9043	10	0.87932	D	0	.	13.0903	0.59164	0.8658:0.1342:0.0:0.0	.	227;228;212;870	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	R	870;856;213;227;228;212;213	ENSP00000360141:Q870R;ENSP00000360143:Q856R;ENSP00000360136:Q213R;ENSP00000360126:Q227R;ENSP00000346328:Q228R;ENSP00000265620:Q212R;ENSP00000304472:Q213R	ENSP00000265620:Q212R	Q	+	2	0	GNAS	56917991	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	8.784000	0.91818	1.044000	0.40200	-0.323000	0.08544	CAG		0.507	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516	
SNAP29	9342	hgsc.bcm.edu	37	22	21213410	21213410	+	Silent	SNP	C	C	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr22:21213410C>T	ENST00000215730.7	+	1	140	c.12C>T	c.(10-12)taC>taT	p.Y4Y	PI4KA_ENST00000255882.6_5'Flank|PI4KA_ENST00000572273.1_5'Flank	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	4					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			TGTCAGCTTACCCTAAAAGCT	0.731																																																	0			22											10.0	12.0	11.0					22																	21213410		2182	4263	6445	19543410	SO:0001819	synonymous_variant	9342			AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.12C>T	22.37:g.21213410C>T			19543410		Silent	SNP	ENST00000215730.7	37	CCDS13784.1																																																																																				0.731	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	NM_004782	
GNAZ	2781	hgsc.bcm.edu	37	22	23437925	23437925	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr22:23437925C>T	ENST00000248996.4	+	2	709	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	15					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)	p.R15W(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGCAGCCCGGCGGTCCCGGAG	0.637																																																	1	Substitution - Missense(1)	lung(1)	22											27.0	30.0	29.0					22																	23437925		2202	4297	6499	21767925	SO:0001583	missense	2781				CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.43C>T	22.37:g.23437925C>T	ENSP00000248996:p.Arg15Trp		21767925	B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728887	0.89390	.	.	ENSG00000128266	ENST00000248996	D	0.89123	-2.47	5.05	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.92309	0.7560	H	0.96301	3.8	0.80722	D	1	D	0.65815	0.995	B	0.42214	0.38	D	0.93852	0.7146	10	0.87932	D	0	.	14.035	0.64640	0.1523:0.8477:0.0:0.0	.	15	P19086	GNAZ_HUMAN	W	15	ENSP00000248996:R15W	ENSP00000248996:R15W	R	+	1	2	GNAZ	21767925	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	3.704000	0.54815	1.221000	0.43506	0.655000	0.94253	CGG		0.637	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073	
RFPL1	5988	hgsc.bcm.edu	37	22	29837544	29837544	+	Silent	SNP	G	G	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr22:29837544G>A	ENST00000354373.2	+	2	596	c.387G>A	c.(385-387)ttG>ttA	p.L129L	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	129	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						ATATGACCTTGGATGCCGACA	0.488																																																	0			22											109.0	97.0	101.0					22																	29837544		2203	4300	6503	28167544	SO:0001819	synonymous_variant	5988			AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.387G>A	22.37:g.29837544G>A			28167544	Q6IC06|Q9UJ97	Silent	SNP	ENST00000354373.2	37	CCDS13857.2																																																																																				0.488	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026	
SEC14L3	266629	hgsc.bcm.edu	37	22	30857429	30857429	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr22:30857429C>T	ENST00000215812.4	-	11	1039	c.949G>A	c.(949-951)Gga>Aga	p.G317R	SEC14L3_ENST00000539629.1_Missense_Mutation_p.G258R|SEC14L3_ENST00000401751.1_Missense_Mutation_p.G258R|SEC14L3_ENST00000540910.1_Missense_Mutation_p.G240R|SEC14L3_ENST00000402286.1_Missense_Mutation_p.G240R|SEC14L3_ENST00000403066.1_Missense_Mutation_p.G258R|SEC14L3_ENST00000415957.2_Missense_Mutation_p.G258R	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	317	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AGGAAAACTCCGAAGCCGATG	0.602																																					Esophageal Squamous(108;290 1516 3584 23771 37333)												0			22											58.0	52.0	54.0					22																	30857429		2203	4300	6503	29187429	SO:0001583	missense	266629			AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.949G>A	22.37:g.30857429C>T	ENSP00000215812:p.Gly317Arg		29187429	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	CCDS13877.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145713	0.77888	.	.	ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.52	5.52	0.82312	GOLD (2);	0.098933	0.64402	D	0.000001	T	0.67878	0.2940	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.71283	-0.4639	10	0.87932	D	0	-29.0971	19.0319	0.92960	0.0:1.0:0.0:0.0	.	240;317	E9PE57;Q9UDX4	.;S14L3_HUMAN	R	258;258;317;240;258;258;240	ENSP00000385941:G258R;ENSP00000401864:G258R;ENSP00000215812:G317R;ENSP00000385004:G240R;ENSP00000383896:G258R;ENSP00000444691:G258R;ENSP00000439752:G240R	ENSP00000215812:G317R	G	-	1	0	SEC14L3	29187429	1.000000	0.71417	0.636000	0.29352	0.338000	0.28826	7.297000	0.78799	2.599000	0.87857	0.655000	0.94253	GGA		0.602	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975	
DEPDC5	9681	hgsc.bcm.edu	37	22	32242878	32242878	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr22:32242878A>G	ENST00000382112.3	+	30	3123	c.3053A>G	c.(3052-3054)gAg>gGg	p.E1018G	DEPDC5_ENST00000382105.2_Missense_Mutation_p.E949G|DEPDC5_ENST00000266091.3_Missense_Mutation_p.E1027G|DEPDC5_ENST00000400249.2_Missense_Mutation_p.E1018G|DEPDC5_ENST00000400248.2_Missense_Mutation_p.E1018G|DEPDC5_ENST00000535622.1_Missense_Mutation_p.E949G|DEPDC5_ENST00000382111.2_Missense_Mutation_p.E1027G|DEPDC5_ENST00000400246.1_Missense_Mutation_p.E1027G	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1027					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CATTCTCTGGAGTCAACTGCA	0.552																																																	0			22											83.0	83.0	83.0					22																	32242878		1989	4163	6152	30572878	SO:0001583	missense	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3053A>G	22.37:g.32242878A>G	ENSP00000371546:p.Glu1018Gly		30572878	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.322776	0.41096	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T	0.39056	1.34;1.78;1.78;1.63;1.1;1.67;1.63;1.78	5.31	3.12	0.35913	.	0.103999	0.64402	D	0.000005	T	0.48892	0.1525	L	0.29908	0.895	0.80722	D	1	D;P;D;B;D;P;P	0.76494	0.999;0.935;0.973;0.39;0.998;0.935;0.919	D;B;P;B;D;B;B	0.85130	0.997;0.34;0.658;0.281;0.937;0.34;0.253	T	0.41034	-0.9531	10	0.54805	T	0.06	.	10.1272	0.42656	0.7328:0.0:0.0:0.2671	.	348;1027;949;413;1027;1018;1018	B4DSS1;B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.;.;.;.;.;.;DEPD5_HUMAN	G	949;1027;1018;949;1027;949;1018;1027;1018	ENSP00000440210:E949G;ENSP00000266091:E1027G;ENSP00000383108:E1018G;ENSP00000383105:E1027G;ENSP00000371539:E949G;ENSP00000371546:E1018G;ENSP00000371545:E1027G;ENSP00000383107:E1018G	ENSP00000266091:E1027G	E	+	2	0	DEPDC5	30572878	1.000000	0.71417	0.018000	0.16275	0.001000	0.01503	8.063000	0.89482	0.386000	0.24997	-0.341000	0.08007	GAG		0.552	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	
CACNA1I	8911	hgsc.bcm.edu	37	22	40042683	40042683	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr22:40042683T>C	ENST00000402142.3	+	8	1259	c.1259T>C	c.(1258-1260)cTg>cCg	p.L420P	CACNA1I_ENST00000336649.4_Missense_Mutation_p.L420P|CACNA1I_ENST00000400164.3_Missense_Mutation_p.L420P|CACNA1I_ENST00000407673.1_Missense_Mutation_p.L420P|CACNA1I_ENST00000401624.1_Missense_Mutation_p.L420P|CACNA1I_ENST00000404898.1_Missense_Mutation_p.L420P	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	420					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCGCTACCTGTCCTCCAGC	0.622																																																	0			22											12.0	14.0	14.0					22																	40042683		2114	4229	6343	38372629	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.1259T>C	22.37:g.40042683T>C	ENSP00000385019:p.Leu420Pro		38372629	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784023	0.49891	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97256	-4.27;-4.25;-4.26;-4.24;-4.31;-4.22	3.49	3.49	0.39957	.	1.630500	0.03490	N	0.216467	D	0.98356	0.9454	M	0.71581	2.175	0.80722	D	1	P;D;P;D	0.76494	0.649;0.998;0.849;0.999	B;D;B;D	0.85130	0.193;0.958;0.261;0.997	D	0.93418	0.6774	10	0.46703	T	0.11	.	12.7047	0.57054	0.0:0.0:0.0:1.0	.	420;420;420;420	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	P	420	ENSP00000385019:L420P;ENSP00000384093:L420P;ENSP00000383887:L420P;ENSP00000385680:L420P;ENSP00000337829:L420P;ENSP00000383028:L420P	ENSP00000337829:L420P	L	+	2	0	CACNA1I	38372629	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	3.004000	0.49513	1.547000	0.49401	0.254000	0.18369	CTG		0.622	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406	
SAMM50	25813	hgsc.bcm.edu	37	22	44371983	44371983	+	Nonsense_Mutation	SNP	C	C	T	rs143794573		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr22:44371983C>T	ENST00000350028.4	+	8	854	c.697C>T	c.(697-699)Cga>Tga	p.R233*	SAMM50_ENST00000396202.3_Nonsense_Mutation_p.R23*	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	233					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGGCGTATGGCGAGAACTGGG	0.483																																																	0			22						C	stop/ARG	0,4406		0,0,2203	94.0	82.0	86.0		697	4.2	1.0	22	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	SAMM50	NM_015380.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		233/470	44371983	1,13005	2203	4300	6503	42703316	SO:0001587	stop_gained	25813			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.697C>T	22.37:g.44371983C>T	ENSP00000345445:p.Arg233*		42703316	Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Nonsense_Mutation	SNP	ENST00000350028.4	37	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	C	42	9.551304	0.99202	0.0	1.16E-4	ENSG00000100347	ENST00000350028;ENST00000396202	.	.	.	5.3	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7185	10.9836	0.47510	0.2633:0.7367:0.0:0.0	.	.	.	.	X	233;23	.	ENSP00000345445:R233X	R	+	1	2	SAMM50	42703316	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	3.560000	0.53763	2.647000	0.89833	0.561000	0.74099	CGA		0.483	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380	
NUP50	10762	hgsc.bcm.edu	37	22	45571915	45571915	+	Silent	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr22:45571915T>C	ENST00000347635.4	+	4	760	c.294T>C	c.(292-294)ccT>ccC	p.P98P	NUP50_ENST00000407019.2_Silent_p.P70P|CTA-268H5.12_ENST00000610217.1_RNA|NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000396096.2_Silent_p.P70P|NUP50_ENST00000425733.2_Intron	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	98	5 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCAGTGCCCCTCCCTTCGCCA	0.532																																																	0			22											69.0	65.0	67.0					22																	45571915		2203	4300	6503	43950579	SO:0001819	synonymous_variant	10762			AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.294T>C	22.37:g.45571915T>C			43950579	B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Silent	SNP	ENST00000347635.4	37	CCDS14062.1																																																																																				0.532	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2		
PRKD1	5587	hgsc.bcm.edu	37	14	30105669	30105669	+	Silent	SNP	C	C	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr14:30105669C>G	ENST00000331968.5	-	7	1246	c.1017G>C	c.(1015-1017)gtG>gtC	p.V339V	PRKD1_ENST00000415220.2_Silent_p.V347V|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	339					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CTTCCATGACCACATCAGACT	0.463																																																	0			14											220.0	168.0	185.0					14																	30105669		2203	4300	6503	29175420	SO:0001819	synonymous_variant	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1017G>C	14.37:g.30105669C>G			29175420	A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	CCDS9637.1																																																																																				0.463	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
HEATR4	399671	hgsc.bcm.edu	37	14	73957772	73957772	+	Intron	SNP	A	A	G	rs10144469		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr14:73957772A>G	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)		GGGCGGCCGAAGCGCCGGCGC	0.687																																																	0			14						G	,ARG/LYS,	3166,550		1357,452,49	18.0	22.0	21.0		,50,	2.9	0.9	14	dbSNP_119	21	5852,2314		2117,1618,348	no	intron,missense,intron	C14orf169,HEATR4	NM_001220484.1,NM_024644.2,NM_203309.2	,26,	3474,2070,397	GG,GA,AA		28.337,14.8009,24.1037	,benign,	,17/642,	73957772	9018,2864	1858	4083	5941	73027525	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+1997T>C	14.37:g.73957772A>G			73027525	B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	CCDS9815.2																																																																																				0.687	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309	
TRIP11	9321	hgsc.bcm.edu	37	14	92480894	92480894	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr14:92480894A>G	ENST00000267622.4	-	7	1224	c.851T>C	c.(850-852)cTc>cCc	p.L284P		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	284					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GATTTTAGAGAGATCAGTTTC	0.308			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0			14											23.0	24.0	24.0					14																	92480894		2106	4229	6335	91550647	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.851T>C	14.37:g.92480894A>G	ENSP00000267622:p.Leu284Pro		91550647	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	A	0.349	-0.945740	0.02304	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.59638	0.25	4.82	0.963	0.19649	.	1.479890	0.03688	N	0.246694	T	0.36413	0.0966	N	0.08118	0	0.20764	N	0.999859	B;B	0.17268	0.021;0.006	B;B	0.19148	0.024;0.005	T	0.20240	-1.0281	10	0.30854	T	0.27	.	5.0674	0.14589	0.2824:0.0806:0.0:0.637	.	49;284	F5H1Z0;Q15643	.;TRIPB_HUMAN	P	284;49	ENSP00000267622:L284P	ENSP00000267622:L284P	L	-	2	0	TRIP11	91550647	0.823000	0.29233	0.027000	0.17364	0.014000	0.08584	0.212000	0.17497	0.258000	0.21686	-1.847000	0.00572	CTC		0.308	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		
FSD1	79187	hgsc.bcm.edu	37	19	4318479	4318479	+	Silent	SNP	G	G	A	rs144756712		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr19:4318479G>A	ENST00000221856.6	+	9	1083	c.936G>A	c.(934-936)gcG>gcA	p.A312A	FSD1_ENST00000597590.1_Silent_p.A312A|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	312	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGACGGCGTCTCCCATCA	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15740	0.0		0.0	False		,,,				2504	0.0																0			19											65.0	51.0	56.0					19																	4318479		2203	4300	6503	4269479	SO:0001819	synonymous_variant	79187			AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.936G>A	19.37:g.4318479G>A			4269479	B2RDT0|Q9BXN0|Q9HAG4	Silent	SNP	ENST00000221856.6	37	CCDS12127.1																																																																																				0.617	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333	
LRRC8E	80131	hgsc.bcm.edu	37	19	7964899	7964899	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr19:7964899G>A	ENST00000306708.6	+	3	1593	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_Missense_Mutation_p.S123L	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	498					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GGAGCTCCGCGAGGTGCCGCT	0.657																																																	0			19											31.0	24.0	27.0					19																	7964899		2201	4298	6499	7870899	SO:0001583	missense	80131				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1492G>A	19.37:g.7964899G>A	ENSP00000306524:p.Glu498Lys		7870899	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	CCDS12189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.78|15.78	2.935643|2.935643	0.52972|0.52972	.|.	.|.	ENSG00000171017|ENSG00000214248	ENST00000306708|ENST00000539278	T|.	0.20598|.	2.06|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.053877|.	0.64402|.	D|.	0.000001|.	T|T	0.69735|0.69735	0.3144|0.3144	L|L	0.52759|0.52759	1.655|1.655	0.45403|0.45403	D|D	0.998382|0.998382	P|.	0.39520|.	0.676|.	B|.	0.29077|.	0.098|.	T|T	0.73078|0.73078	-0.4096|-0.4096	10|6	0.23302|0.87932	T|D	0.38|0	.|.	15.3436|15.3436	0.74317|0.74317	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	498|.	Q6NSJ5|.	LRC8E_HUMAN|.	K|L	498|123	ENSP00000306524:E498K|.	ENSP00000306524:E498K|ENSP00000441047:S123L	E|S	+|-	1|2	0|0	LRRC8E|AC010336.2	7870899|7870899	1.000000|1.000000	0.71417|0.71417	0.917000|0.917000	0.36280|0.36280	0.957000|0.957000	0.61999|0.61999	7.800000|7.800000	0.85949|0.85949	2.491000|2.491000	0.84063|0.84063	0.650000|0.650000	0.86243|0.86243	GAG|TCG		0.657	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061	
MUC16	94025	hgsc.bcm.edu	37	19	9072975	9072975	+	Missense_Mutation	SNP	G	G	A	rs17000816	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr19:9072975G>A	ENST00000397910.4	-	3	14674	c.14471C>T	c.(14470-14472)aCg>aTg	p.T4824M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4826	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGATGCGTTGTCTCTAT	0.448													G|||	936	0.186901	0.0923	0.2536	5008	,	,		23617	0.3254		0.1322	False		,,,				2504	0.181																0			19							MET/THR	399,3763		17,365,1699	165.0	153.0	157.0		14471	-1.5	0.0	19	dbSNP_123	157	1164,7258		73,1018,3120	yes	missense	MUC16	NM_024690.2	81	90,1383,4819	AA,AG,GG		13.8209,9.5867,12.4205	benign	4824/14508	9072975	1563,11021	2081	4211	6292	8933975	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14471C>T	19.37:g.9072975G>A	ENSP00000381008:p.Thr4824Met		8933975	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	439	0.20100732600732601	56	0.11382113821138211	80	0.22099447513812154	205	0.3583916083916084	98	0.12928759894459102	g	1.725	-0.495688	0.04291	0.095867	0.138209	ENSG00000181143	ENST00000397910	T	0.20332	2.08	2.02	-1.54	0.08584	.	.	.	.	.	T	0.00012	0.0000	N	0.02011	-0.69	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.46005	-0.9222	8	0.87932	D	0	.	5.65	0.17610	0.644:0.0:0.356:0.0	rs17000816;rs56515928;rs17000816	4824	B5ME49	.	M	4824	ENSP00000381008:T4824M	ENSP00000381008:T4824M	T	-	2	0	MUC16	8933975	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.495000	0.02294	-0.474000	0.06862	-0.692000	0.03713	ACG		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
TMED1	11018	hgsc.bcm.edu	37	19	10945726	10945726	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr19:10945726T>C	ENST00000214869.2	-	3	447	c.349A>G	c.(349-351)Aag>Gag	p.K117E	C19orf38_ENST00000592854.1_5'Flank|TMED1_ENST00000588289.1_5'UTR|TMED1_ENST00000591695.1_Intron	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	117	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						AACACCAGCTTCTCGGAGATG	0.567																																																	0			19											115.0	112.0	113.0					19																	10945726		2203	4300	6503	10806726	SO:0001583	missense	11018			U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"""transmembrane emp24 domain containing 1"""			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.349A>G	19.37:g.10945726T>C	ENSP00000214869:p.Lys117Glu		10806726		Missense_Mutation	SNP	ENST00000214869.2	37	CCDS12249.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.930171	0.92389	.	.	ENSG00000099203	ENST00000214869	T	0.67171	-0.25	5.15	4.13	0.48395	GOLD (3);	0.046316	0.85682	D	0.000000	D	0.85349	0.5676	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86728	0.1946	10	0.87932	D	0	-30.0631	9.8575	0.41094	0.0:0.0825:0.0:0.9175	.	117	Q13445	TMED1_HUMAN	E	117	ENSP00000214869:K117E	ENSP00000214869:K117E	K	-	1	0	TMED1	10806726	1.000000	0.71417	0.978000	0.43139	0.972000	0.66771	7.766000	0.85320	0.808000	0.34231	0.459000	0.35465	AAG		0.567	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452614.1	NM_006858	
DHPS	1725	hgsc.bcm.edu	37	19	12790732	12790732	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr19:12790732T>C	ENST00000210060.7	-	3	512	c.377A>G	c.(376-378)gAc>gGc	p.D126G	CTD-2192J16.26_ENST00000593554.1_lincRNA|DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000351660.5_Missense_Mutation_p.D126G|DHPS_ENST00000594424.1_Missense_Mutation_p.D84G	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	126					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						CACCAATACGTCCACCTGCAG	0.572																																																	0			19											40.0	40.0	40.0					19																	12790732		2203	4300	6503	12651732	SO:0001583	missense	1725			U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.377A>G	19.37:g.12790732T>C	ENSP00000210060:p.Asp126Gly		12651732	A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Missense_Mutation	SNP	ENST00000210060.7	37	CCDS12276.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.362954	0.82353	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	T;T	0.54071	0.59;0.59	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	H	0.95260	3.645	0.80722	D	1	D;P;D	0.89917	1.0;0.688;0.993	D;P;P	0.73380	0.98;0.745;0.905	D	0.85866	0.1413	10	0.87932	D	0	-30.8443	13.7603	0.62961	0.0:0.0:0.0:1.0	.	126;126;126	Q5J8M5;P49366-2;P49366	.;.;DHYS_HUMAN	G	126	ENSP00000210060:D126G;ENSP00000221303:D126G	ENSP00000210060:D126G	D	-	2	0	DHPS	12651732	1.000000	0.71417	0.942000	0.38095	0.803000	0.45373	7.253000	0.78320	2.137000	0.66172	0.533000	0.62120	GAC		0.572	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1	NM_001930	
MAST3	23031	hgsc.bcm.edu	37	19	18245673	18245673	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr19:18245673A>G	ENST00000262811.6	+	16	1664	c.1664A>G	c.(1663-1665)cAg>cGg	p.Q555R		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	555	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						ATCTTCCGCCAGGGCTATGGG	0.632																																																	0			19											86.0	91.0	90.0					19																	18245673		2031	4205	6236	18106673	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1664A>G	19.37:g.18245673A>G	ENSP00000262811:p.Gln555Arg		18106673	Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.318680	0.81469	.	.	ENSG00000099308	ENST00000262811	T	0.64803	-0.12	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115003	0.64402	D	0.000008	T	0.61426	0.2346	L	0.31476	0.935	0.58432	D	0.999999	P	0.37423	0.594	P	0.48189	0.57	T	0.65240	-0.6216	10	0.59425	D	0.04	-38.4978	13.6275	0.62173	1.0:0.0:0.0:0.0	.	555	O60307	MAST3_HUMAN	R	555	ENSP00000262811:Q555R	ENSP00000262811:Q555R	Q	+	2	0	MAST3	18106673	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.209000	0.95087	1.830000	0.53286	0.260000	0.18958	CAG		0.632	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150	
ZNF99	7652	hgsc.bcm.edu	37	19	22939564	22939564	+	IGR	SNP	A	A	G	rs75352526		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr19:22939564A>G	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Silent_p.F869F|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGGAATTGTTAAAAGCTTTGC	0.363																																																	0			19											37.0	49.0	45.0					19																	22939564		1957	4222	6179	22731404	SO:0001628	intergenic_variant	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939564A>G			22731404	M0R335	Silent	SNP	ENST00000596209.1	37	CCDS59369.1																																																																																				0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
CEP89	84902	hgsc.bcm.edu	37	19	33424435	33424435	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr19:33424435C>A	ENST00000305768.5	-	8	896	c.808G>T	c.(808-810)Gaa>Taa	p.E270*	CEP89_ENST00000590597.2_Nonsense_Mutation_p.E270*	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	270					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						AACTGTAGTTCTTTCATTGCT	0.393																																																	0			19											259.0	231.0	241.0					19																	33424435		2203	4300	6503	38116275	SO:0001587	stop_gained	84902			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.808G>T	19.37:g.33424435C>A	ENSP00000306105:p.Glu270*		38116275	B9EGA6|Q8N5J8	Nonsense_Mutation	SNP	ENST00000305768.5	37	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815921	0.90790	.	.	ENSG00000121289	ENST00000305768	.	.	.	5.09	4.06	0.47325	.	1.156050	0.06054	N	0.657076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-3.563	10.9047	0.47073	0.0:0.9107:0.0:0.0893	.	.	.	.	X	270	.	ENSP00000306105:E270X	E	-	1	0	CEP89	38116275	0.998000	0.40836	0.627000	0.29227	0.061000	0.15899	1.697000	0.37784	1.277000	0.44412	0.467000	0.42956	GAA		0.393	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816	
LSR	51599	hgsc.bcm.edu	37	19	35741361	35741361	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr19:35741361C>T	ENST00000361790.3	+	2	556	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	LSR_ENST00000360798.3_Missense_Mutation_p.R133W|LSR_ENST00000347609.4_Missense_Mutation_p.R96W|LSR_ENST00000354900.3_Missense_Mutation_p.R133W|AC002128.5_ENST00000604161.1_RNA|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000427250.1_Missense_Mutation_p.R85W|LSR_ENST00000602122.1_Missense_Mutation_p.R133W	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	133	Ig-like V-type.				embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTCTTTCTGCCGGGACCGCAT	0.617																																																	0			19											180.0	149.0	159.0					19																	35741361		2203	4300	6503	40433201	SO:0001583	missense	51599			AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.397C>T	19.37:g.35741361C>T	ENSP00000354575:p.Arg133Trp		40433201	A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075063	0.76415	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	T;T;T;T;T	0.69306	4.79;4.79;4.79;4.79;-0.39	4.88	3.79	0.43588	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.68952	2.095	0.30048	N	0.812031	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.991;0.999;0.997;1.0;0.991;0.991	T	0.75204	-0.3400	10	0.87932	D	0	-22.5233	12.4635	0.55745	0.1669:0.8331:0.0:0.0	.	90;96;133;133;133;133	Q9BT33;Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;.;LSR_HUMAN	W	133;133;133;96;85	ENSP00000354575:R133W;ENSP00000346976:R133W;ENSP00000354034:R133W;ENSP00000262627:R96W;ENSP00000394479:R85W	ENSP00000262627:R96W	R	+	1	2	LSR	40433201	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.149000	0.42244	2.548000	0.85928	0.655000	0.94253	CGG		0.617	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925	
KMT2B	9757	hgsc.bcm.edu	37	19	36224680	36224680	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr19:36224680T>C	ENST00000222270.7	+	30	7066	c.7066T>C	c.(7066-7068)Tcc>Ccc	p.S2356P	KMT2B_ENST00000420124.1_Missense_Mutation_p.S2356P|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2356					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCAGGAACGGTCCCCTTTGCT	0.637																																																	0			19											50.0	57.0	54.0					19																	36224680		1929	4125	6054	40916520	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7066T>C	19.37:g.36224680T>C	ENSP00000222270:p.Ser2356Pro		40916520	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	T	7.584	0.669352	0.14776	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82984	-1.67;-1.67	5.46	2.27	0.28462	.	0.346769	0.21116	N	0.079899	T	0.55878	0.1948	N	0.01874	-0.695	0.22858	N	0.998648	B	0.02656	0.0	B	0.04013	0.001	T	0.46679	-0.9174	10	0.23302	T	0.38	.	6.5152	0.22244	0.0:0.259:0.0:0.741	.	2356	Q9UMN6	MLL4_HUMAN	P	2356	ENSP00000222270:S2356P;ENSP00000398837:S2356P	ENSP00000222270:S2356P	S	+	1	0	AD000671.1	40916520	0.951000	0.32395	0.998000	0.56505	0.706000	0.40770	0.478000	0.22212	0.927000	0.37143	0.459000	0.35465	TCC		0.637	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
ZNF780B	163131	hgsc.bcm.edu	37	19	40553361	40553361	+	Silent	SNP	C	C	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr19:40553361C>T	ENST00000434248.1	-	4	218	c.153G>A	c.(151-153)aaG>aaA	p.K51K	ZNF780B_ENST00000598845.1_Silent_p.K52K|AC005614.5_ENST00000595508.1_RNA|ZNF780B_ENST00000221355.6_5'UTR	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	51	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)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCACATCTGGCTTAGAAATGG	0.323																																																	0			19											106.0	101.0	102.0					19																	40553361		2203	4300	6503	45245201	SO:0001819	synonymous_variant	163131			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.153G>A	19.37:g.40553361C>T			45245201	B9EH00	Silent	SNP	ENST00000434248.1	37	CCDS46077.1																																																																																				0.323	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851	
CYP2A7	1549	hgsc.bcm.edu	37	19	41383816	41383816	+	Missense_Mutation	SNP	G	G	A	rs373592664		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr19:41383816G>A	ENST00000301146.4	-	6	1455	c.914C>T	c.(913-915)aCg>aTg	p.T305M	CYP2A7_ENST00000291764.3_Missense_Mutation_p.T254M|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	305						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGTGCTGACCGTCTCGGTGCC	0.592																																																	0			19						G	MET/THR,MET/THR	0,4406		0,0,2203	135.0	104.0	115.0		914,761	2.2	0.0	19		115	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	CYP2A7	NM_000764.2,NM_030589.2	81,81	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	305/495,254/444	41383816	1,13003	2203	4299	6502	46075656	SO:0001583	missense	1549			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.914C>T	19.37:g.41383816G>A	ENSP00000301146:p.Thr305Met		46075656	Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849305	0.32699	0.0	1.16E-4	ENSG00000198077	ENST00000301146;ENST00000291764	D;D	0.87966	-2.32;-2.32	2.18	2.18	0.27775	.	0.000000	0.85682	U	0.000000	D	0.94407	0.8201	H	0.94542	3.55	0.32960	D	0.52085	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.933;0.957;0.998	D	0.95318	0.8418	10	0.87932	D	0	.	11.4495	0.50145	0.0:0.0:1.0:0.0	.	305;254;305	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	M	305;254	ENSP00000301146:T305M;ENSP00000291764:T254M	ENSP00000291764:T254M	T	-	2	0	CYP2A7	46075656	1.000000	0.71417	0.029000	0.17559	0.025000	0.11179	6.577000	0.74027	1.215000	0.43411	0.184000	0.17185	ACG		0.592	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589	
SHANK1	50944	hgsc.bcm.edu	37	19	51217188	51217188	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr19:51217188G>A	ENST00000293441.1	-	5	677	c.659C>T	c.(658-660)gCg>gTg	p.A220V	SHANK1_ENST00000359082.3_Missense_Mutation_p.A220V|SHANK1_ENST00000391814.1_Missense_Mutation_p.A220V	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	220					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGTCTGGGCCGCCAGTGTCAA	0.617																																																	0			19											33.0	34.0	34.0					19																	51217188		2203	4300	6503	55909000	SO:0001583	missense	50944			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.659C>T	19.37:g.51217188G>A	ENSP00000293441:p.Ala220Val		55909000	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823625	0.71143	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.72615	-0.67;-0.67;-0.67	3.86	3.86	0.44501	Ankyrin repeat-containing domain (4);	0.094113	0.39407	U	0.001362	D	0.86768	0.6012	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90044	0.4144	10	0.87932	D	0	-21.0929	15.7532	0.78005	0.0:0.0:1.0:0.0	.	220	Q9Y566	SHAN1_HUMAN	V	220	ENSP00000293441:A220V;ENSP00000351984:A220V;ENSP00000375690:A220V	ENSP00000293441:A220V	A	-	2	0	SHANK1	55909000	1.000000	0.71417	0.981000	0.43875	0.954000	0.61252	9.205000	0.95048	2.459000	0.83118	0.561000	0.74099	GCG		0.617	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
KIR3DL2	3812	hgsc.bcm.edu	37	19	55365482	55365482	+	Silent	SNP	C	C	T	rs140583928	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr19:55365482C>T	ENST00000326321.3	+	4	669	c.636C>T	c.(634-636)ccC>ccT	p.P212P	KIR3DL2_ENST00000270442.5_Silent_p.P212P|KIR3DL1_ENST00000402254.2_Intron	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	212					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P212P(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CCAGTGACCCCCTGGACATCG	0.517																																																	1	Substitution - coding silent(1)	skin(1)	19											12.0	11.0	11.0					19																	55365482		1639	3364	5003	60057294	SO:0001819	synonymous_variant	3812			L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.636C>T	19.37:g.55365482C>T			60057294	Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Silent	SNP	ENST00000326321.3	37	CCDS12906.1																																																																																				0.517	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1		
SSC5D	284297	hgsc.bcm.edu	37	19	56029555	56029555	+	Silent	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr19:56029555T>C	ENST00000389623.6	+	14	3935	c.3912T>C	c.(3910-3912)acT>acC	p.T1304T		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	1304	Pro-rich.|Thr-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						ccaccatgactcctgacccca	0.632																																																	0			19											288.0	293.0	292.0					19																	56029555		692	1591	2283	60721367	SO:0001819	synonymous_variant	0				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.3912T>C	19.37:g.56029555T>C			60721367	B5MDQ5|C7S7T9|C7S7U0|K7EP70	Silent	SNP	ENST00000389623.6	37	CCDS46196.1																																																																																				0.632	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453345.2	XM_001718392	
SSC5D	284297	hgsc.bcm.edu	37	19	56029559	56029559	+	Missense_Mutation	SNP	G	G	C	rs201344068|rs145888701		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr19:56029559G>C	ENST00000389623.6	+	14	3939	c.3916G>C	c.(3916-3918)Gac>Cac	p.D1306H		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	1306	Pro-rich.|Thr-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						catgactcctgaccccaccac	0.627																																																	0			19											293.0	296.0	295.0					19																	56029559		692	1591	2283	60721371	SO:0001583	missense	0				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.3916G>C	19.37:g.56029559G>C	ENSP00000374274:p.Asp1306His		60721371	B5MDQ5|C7S7T9|C7S7U0|K7EP70	Missense_Mutation	SNP	ENST00000389623.6	37	CCDS46196.1	.	.	.	.	.	.	.	.	.	.	-	9.760	1.169888	0.21621	.	.	ENSG00000179954	ENST00000389623	T	0.01197	5.19	2.81	-5.63	0.02474	.	.	.	.	.	T	0.00608	0.0020	N	0.08118	0	0.09310	N	1	B	0.30406	0.278	B	0.14578	0.011	T	0.47947	-0.9077	9	0.52906	T	0.07	.	5.9737	0.19367	0.0:0.3242:0.488:0.1878	.	1306	A1L4H1	SRCRL_HUMAN	H	1306	ENSP00000374274:D1306H	ENSP00000374274:D1306H	D	+	1	0	SSC5D	60721371	0.000000	0.05858	0.009000	0.14445	0.171000	0.22731	-3.498000	0.00451	-1.168000	0.02776	0.165000	0.16767	GAC		0.627	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453345.2	XM_001718392	
SSC5D	284297	hgsc.bcm.edu	37	19	56029614	56029614	+	Missense_Mutation	SNP	A	A	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr19:56029614A>C	ENST00000389623.6	+	14	3994	c.3971A>C	c.(3970-3972)cAc>cCc	p.H1324P		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	1324	Pro-rich.|Thr-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						acgacccctcaccccACAACT	0.597																																																	0			19											340.0	323.0	328.0					19																	56029614		692	1591	2283	60721426	SO:0001583	missense	0				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.3971A>C	19.37:g.56029614A>C	ENSP00000374274:p.His1324Pro		60721426	B5MDQ5|C7S7T9|C7S7U0|K7EP70	Missense_Mutation	SNP	ENST00000389623.6	37	CCDS46196.1	.	.	.	.	.	.	.	.	.	.	-	9.079	0.998881	0.19121	.	.	ENSG00000179954	ENST00000389623	T	0.01215	5.16	2.21	2.21	0.28008	.	.	.	.	.	T	0.00754	0.0025	N	0.19112	0.55	0.09310	N	1	P	0.39094	0.659	B	0.26693	0.072	T	0.53136	-0.8481	9	0.34782	T	0.22	.	6.6642	0.23031	1.0:0.0:0.0:0.0	.	1324	A1L4H1	SRCRL_HUMAN	P	1324	ENSP00000374274:H1324P	ENSP00000374274:H1324P	H	+	2	0	SSC5D	60721426	0.005000	0.15991	0.012000	0.15200	0.119000	0.20118	0.188000	0.17018	0.967000	0.38186	0.139000	0.15985	CAC		0.597	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453345.2	XM_001718392	
UNC5D	137970	hgsc.bcm.edu	37	8	35542136	35542136	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr8:35542136C>G	ENST00000404895.2	+	6	1116	c.788C>G	c.(787-789)gCc>gGc	p.A263G	UNC5D_ENST00000416672.1_Missense_Mutation_p.A263G|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000453357.2_Missense_Mutation_p.A258G	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	263	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAGTGGTCAGCCTGCAATGTT	0.517																																																	0			8											138.0	128.0	131.0					8																	35542136		2203	4300	6503	35661678	SO:0001583	missense	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.788C>G	8.37:g.35542136C>G	ENSP00000385143:p.Ala263Gly		35661678	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475521	0.43942	.	.	ENSG00000156687	ENST00000404895;ENST00000416672;ENST00000453357	T;T;T	0.55234	0.53;0.53;0.53	5.06	5.06	0.68205	.	0.352028	0.33670	N	0.004667	T	0.31009	0.0783	N	0.10618	0.005	0.80722	D	1	B;B;B	0.25390	0.125;0.082;0.009	B;B;B	0.27887	0.084;0.058;0.025	T	0.15321	-1.0441	10	0.23891	T	0.37	-23.9131	10.4677	0.44618	0.2054:0.6697:0.1249:0.0	.	263;258;263	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	G	263;263;258	ENSP00000385143:A263G;ENSP00000412652:A263G;ENSP00000394303:A258G	ENSP00000385143:A263G	A	+	2	0	UNC5D	35661678	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.837000	0.48191	2.520000	0.84964	0.655000	0.94253	GCC		0.517	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		
RB1CC1	9821	hgsc.bcm.edu	37	8	53598018	53598018	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr8:53598018A>T	ENST00000025008.5	-	3	535	c.12T>A	c.(10-12)taT>taA	p.Y4*	RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.Y4*|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.Y4*	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	4					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CCAGAAATACATATAACTTCA	0.333																																					GBM(180;1701 2102 13475 42023 52570)												0			8											80.0	72.0	75.0					8																	53598018		2195	4298	6493	53760571	SO:0001587	stop_gained	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.12T>A	8.37:g.53598018A>T	ENSP00000025008:p.Tyr4*		53760571	Q86YR4|Q8WVU9|Q92601	Nonsense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	A	41	8.836438	0.98972	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297;ENST00000518468	.	.	.	5.61	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.4779	11.3289	0.49465	0.9286:0.0:0.0714:0.0	.	.	.	.	X	4	.	ENSP00000025008:Y4X	Y	-	3	2	RB1CC1	53760571	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.028000	0.64115	0.948000	0.37687	0.477000	0.44152	TAT		0.333	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781	
ANGPT1	284	hgsc.bcm.edu	37	8	108296974	108296974	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr8:108296974C>T	ENST00000520734.1	-	6	826	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	ANGPT1_ENST00000520052.1_Missense_Mutation_p.E180K|ANGPT1_ENST00000518386.1_Intron			Q15389	ANGP1_HUMAN	angiopoietin 1	381					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CGGTTCCCTTCCCAGTCCATT	0.413																																																	0			8											152.0	129.0	137.0					8																	108296974		2203	4300	6503	108366150	SO:0001583	missense	284			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.541G>A	8.37:g.108296974C>T	ENSP00000430750:p.Glu181Lys		108366150	Q5HYA0	Missense_Mutation	SNP	ENST00000520734.1	37		.	.	.	.	.	.	.	.	.	.	C	36	5.883762	0.97062	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000520734;ENST00000520052	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.73	5.73	0.89815	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.087053	0.85682	D	0.000000	T	0.55337	0.1914	M	0.73430	2.235	0.80722	D	1	P;D;D	0.59357	0.528;0.985;0.985	B;P;P	0.59948	0.341;0.866;0.866	T	0.54309	-0.8313	10	0.52906	T	0.07	.	19.8897	0.96925	0.0:1.0:0.0:0.0	.	180;381;381	E7ERK4;Q5HYA0;Q15389	.;.;ANGP1_HUMAN	K	381;380;181;180	ENSP00000428340:E381K;ENSP00000297450:E380K;ENSP00000430750:E181K;ENSP00000429349:E180K	ENSP00000297450:E380K	E	-	1	0	ANGPT1	108366150	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.037000	0.70956	2.709000	0.92574	0.650000	0.86243	GAA		0.413	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290	
COLEC10	10584	hgsc.bcm.edu	37	8	120118131	120118131	+	Missense_Mutation	SNP	C	C	T	rs115273924	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr8:120118131C>T	ENST00000332843.2	+	6	576	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	179	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.R179W(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CTGCAGGATTCGGGGTGGAAT	0.502													C|||	15	0.00299521	0.0068	0.0	5008	,	,		19133	0.0		0.0	False		,,,				2504	0.0061																1	Substitution - Missense(1)	large_intestine(1)	8						C	TRP/ARG	14,4392	21.2+/-45.6	0,14,2189	104.0	82.0	89.0		535	5.4	1.0	8	dbSNP_132	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense	COLEC10	NM_006438.3	101	0,15,6488	TT,TC,CC		0.0116,0.3177,0.1153	probably-damaging	179/278	120118131	15,12991	2203	4300	6503	120187312	SO:0001583	missense	10584			AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.535C>T	8.37:g.120118131C>T	ENSP00000332723:p.Arg179Trp		120187312	Q3SYH6|Q6UW19	Missense_Mutation	SNP	ENST00000332843.2	37	CCDS6327.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	19.52	3.842792	0.71488	0.003177	1.16E-4	ENSG00000184374	ENST00000332843	T	0.18174	2.23	5.39	5.39	0.77823	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.89968	3.075	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.52638	-0.8549	10	0.48119	T	0.1	-13.3309	13.5562	0.61761	0.2585:0.7415:0.0:0.0	.	179	Q9Y6Z7	COL10_HUMAN	W	179	ENSP00000332723:R179W	ENSP00000332723:R179W	R	+	1	2	COLEC10	120187312	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.341000	0.52151	2.692000	0.91855	0.555000	0.69702	CGG		0.502	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1		
TAF2	6873	hgsc.bcm.edu	37	8	120810028	120810028	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr8:120810028A>G	ENST00000378164.2	-	7	1149	c.851T>C	c.(850-852)cTt>cCt	p.L284P		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	284					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L284R(1)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GACTTCATGAAGGTATGATGT	0.358																																																	1	Substitution - Missense(1)	kidney(1)	8											92.0	90.0	91.0					8																	120810028		2203	4299	6502	120879209	SO:0001583	missense	6873			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.851T>C	8.37:g.120810028A>G	ENSP00000367406:p.Leu284Pro		120879209	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	CCDS34937.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.5|25.5	4.646498|4.646498	0.87958|0.87958	.|.	.|.	ENSG00000064313|ENSG00000064313	ENST00000523904|ENST00000378164	.|T	.|0.05925	.|3.37	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	.|0.066316	.|0.64402	.|D	.|0.000007	T|T	0.27278|0.27278	0.0669|0.0669	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.74023	.|0.982	T|T	0.00681|0.00681	-1.1612|-1.1612	5|10	.|0.87932	.|D	.|0	-29.8087|-29.8087	16.6406|16.6406	0.85098|0.85098	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|284	.|Q6P1X5	.|TAF2_HUMAN	L|P	15|284	.|ENSP00000367406:L284P	.|ENSP00000367406:L284P	F|L	-|-	1|2	0|0	TAF2|TAF2	120879209|120879209	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.288000|9.288000	0.96055|0.96055	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	TTC|CTT		0.358	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	
OC90	729330	hgsc.bcm.edu	37	8	133051328	133051328	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr8:133051328T>C	ENST00000443356.2	-	7	586	c.500A>G	c.(499-501)aAg>aGg	p.K167R	OC90_ENST00000603859.1_Missense_Mutation_p.K167R|OC90_ENST00000262283.5_Missense_Mutation_p.K363R|OC90_ENST00000254627.3_Missense_Mutation_p.K167R			Q02509	OC90_HUMAN	otoconin 90	167	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TATGGCAGCCTTATCACAGGT	0.527																																																	0			8											74.0	81.0	79.0					8																	133051328		2043	4212	6255	133120510	SO:0001583	missense	729330			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.500A>G	8.37:g.133051328T>C	ENSP00000390050:p.Lys167Arg		133120510	B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37		.	.	.	.	.	.	.	.	.	.	T	19.31	3.802411	0.70682	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.25749	1.78;1.78;1.78	4.61	4.61	0.57282	Phospholipase A2 (3);	0.234937	0.37348	N	0.002121	T	0.26484	0.0647	L	0.28649	0.875	0.38279	D	0.942365	P;D	0.56287	0.916;0.975	P;P	0.51079	0.527;0.658	T	0.06427	-1.0827	10	0.23891	T	0.37	-23.8859	13.209	0.59813	0.0:0.0:0.0:1.0	.	167;167	Q02509-2;Q02509	.;OC90_HUMAN	R	167;167;363	ENSP00000254627:K167R;ENSP00000390050:K167R;ENSP00000262283:K363R	ENSP00000254627:K167R	K	-	2	0	RP11-240B13.2;OC90	133120510	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.543000	0.67225	1.728000	0.51552	0.459000	0.35465	AAG		0.527	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399	
FAM135B	51059	hgsc.bcm.edu	37	8	139160865	139160865	+	Missense_Mutation	SNP	A	A	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr8:139160865A>C	ENST00000395297.1	-	14	3516	c.3346T>G	c.(3346-3348)Tta>Gta	p.L1116V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1116										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGTACAGTTAAGTCACTGTAC	0.378										HNSCC(54;0.14)																																							0			8											94.0	85.0	88.0					8																	139160865		2203	4300	6503	139230047	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3346T>G	8.37:g.139160865A>C	ENSP00000378710:p.Leu1116Val		139230047	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	12.94	2.087593	0.36855	.	.	ENSG00000147724	ENST00000395297	T	0.15834	2.39	5.78	4.61	0.57282	.	0.168206	0.39274	N	0.001417	T	0.20536	0.0494	L	0.38531	1.155	0.34370	D	0.691972	B;D	0.76494	0.36;0.999	B;D	0.63793	0.22;0.918	T	0.24835	-1.0149	10	0.02654	T	1	-1.2126	7.002	0.24815	0.7751:0.1509:0.074:0.0	.	1116;1116	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	V	1116	ENSP00000378710:L1116V	ENSP00000378710:L1116V	L	-	1	2	FAM135B	139230047	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	2.665000	0.46791	0.994000	0.38892	-0.323000	0.08544	TTA		0.378	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
CFAP74	85452	hgsc.bcm.edu	37	1	1887030	1887030	+	IGR	SNP	C	C	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr1:1887030C>T								TMEM52 (36318 upstream) : C1orf222 (32532 downstream)																							GGAAAATTCTCTACTTTCCAG	0.547																																																	0			1											72.0	78.0	76.0					1																	1887030		1897	4098	5995	1876890	SO:0001628	intergenic_variant	85452																															1.37:g.1887030C>T			1876890		Missense_Mutation	SNP		37		.	.	.	.	.	.	.	.	.	.	C	9.302	1.053256	0.19907	.	.	ENSG00000142609	ENST00000270720	.	.	.	1.45	-2.9	0.05648	.	0.942383	0.08525	U	0.932866	T	0.16085	0.0387	N	0.08118	0	0.09310	N	1	B	0.21309	0.054	B	0.11329	0.006	T	0.20472	-1.0274	9	0.87932	D	0	.	4.2188	0.10547	0.1916:0.4936:0.3147:0.0	.	759	Q9C0B2	K1751_HUMAN	K	759	.	ENSP00000270720:R759K	R	-	2	0	C1orf222	1876890	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.596000	0.02091	-0.853000	0.04136	-0.502000	0.04539	AGA	0	0.547								
ZBTB17	7709	hgsc.bcm.edu	37	1	16274899	16274899	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr1:16274899T>C	ENST00000375743.4	-	3	324	c.92A>G	c.(91-93)gAc>gGc	p.D31G	ZBTB17_ENST00000375733.2_Missense_Mutation_p.D31G|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000448462.2_Missense_Mutation_p.D31G	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	31	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GTGAACACCGTCCACCACAAA	0.562																																																	0			1											82.0	76.0	78.0					1																	16274899		2203	4300	6503	16147486	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.92A>G	1.37:g.16274899T>C	ENSP00000364895:p.Asp31Gly		16147486	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	CCDS165.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.304579	0.81136	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000448462	T;T;T	0.68624	2.06;2.06;-0.34	5.3	5.3	0.74995	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.61375	0.2342	N	0.03084	-0.415	0.31954	N	0.609339	D;D;B;D;P;D	0.89917	1.0;1.0;0.143;1.0;0.85;0.998	D;D;B;D;P;D	0.91635	0.999;0.998;0.08;0.998;0.531;0.998	T	0.69899	-0.5020	10	0.87932	D	0	.	10.0476	0.42197	0.1501:0.0:0.0:0.8499	.	31;31;31;31;31;31	B4DGV6;E7EPQ4;Q13105-2;B4DSM7;B2RCP2;Q13105	.;.;.;.;.;ZBT17_HUMAN	G	31	ENSP00000364895:D31G;ENSP00000364885:D31G;ENSP00000391002:D31G	ENSP00000364885:D31G	D	-	2	0	ZBTB17	16147486	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	5.020000	0.64066	2.140000	0.66376	0.459000	0.35465	GAC		0.562	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443	
PUM1	9698	hgsc.bcm.edu	37	1	31441275	31441275	+	Missense_Mutation	SNP	G	G	A	rs143359453		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr1:31441275G>A	ENST00000257075.5	-	11	1664	c.1571C>T	c.(1570-1572)aCg>aTg	p.T524M	PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000426105.2_Missense_Mutation_p.T524M|PUM1_ENST00000423018.2_Missense_Mutation_p.T428M|PUM1_ENST00000373742.2_Missense_Mutation_p.T465M|PUM1_ENST00000373747.3_Missense_Mutation_p.T525M|PUM1_ENST00000424085.2_Missense_Mutation_p.T282M|PUM1_ENST00000373741.4_Missense_Mutation_p.T560M|SNORD85_ENST00000363311.1_RNA|PUM1_ENST00000440538.2_Missense_Mutation_p.T525M	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	524	Ala-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGGGATCCGTTTGCTGTCC	0.532																																																	0			1						G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	100.0	91.0	94.0		1571,1571	5.8	1.0	1	dbSNP_134	94	0,8600		0,0,4300	no	missense,missense	PUM1	NM_001020658.1,NM_014676.2	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	524/1189,524/1187	31441275	1,13005	2203	4300	6503	31213862	SO:0001583	missense	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1571C>T	1.37:g.31441275G>A	ENSP00000257075:p.Thr524Met		31213862	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720374	0.89205	2.27E-4	0.0	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742	T;T;T;T;T;T;T;T	0.18810	2.2;2.19;2.45;2.45;2.45;2.44;2.47;2.19	5.77	5.77	0.91146	.	0.086607	0.85682	D	0.000000	T	0.35856	0.0946	L	0.44542	1.39	0.49687	D	0.999813	D;P;D;P;D;D;D;D	0.71674	0.998;0.776;0.991;0.856;0.987;0.977;0.987;0.987	P;B;P;B;P;P;P;P	0.56216	0.794;0.253;0.614;0.316;0.614;0.614;0.614;0.614	T	0.00837	-1.1546	10	0.51188	T	0.08	-3.3636	20.3626	0.98863	0.0:0.0:1.0:0.0	.	465;428;560;525;524;524;525;524	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.;.;.;.;PUM1_HUMAN;.;.;.	M	282;524;525;262;524;525;560;428;465	ENSP00000400141:T282M;ENSP00000257075:T524M;ENSP00000362852:T525M;ENSP00000391723:T524M;ENSP00000401777:T525M;ENSP00000362846:T560M;ENSP00000399440:T428M;ENSP00000362847:T465M	ENSP00000257075:T524M	T	-	2	0	PUM1	31213862	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.401000	0.79962	2.885000	0.99019	0.655000	0.94253	ACG		0.532	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1		
TINAGL1	64129	hgsc.bcm.edu	37	1	32042921	32042921	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr1:32042921C>G	ENST00000271064.7	+	2	248	c.172C>G	c.(172-174)Cgt>Ggt	p.R58G	TINAGL1_ENST00000457433.2_Missense_Mutation_p.R58G|RP11-73M7.1_ENST00000435872.1_RNA|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000537531.1_Missense_Mutation_p.R58G|TINAGL1_ENST00000441210.2_Missense_Mutation_p.R58G	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	58	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CTGCCGCGGCCGTGCCGACGA	0.692																																																	0			1											69.0	55.0	60.0					1																	32042921		2203	4300	6503	31815508	SO:0001583	missense	64129			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.172C>G	1.37:g.32042921C>G	ENSP00000271064:p.Arg58Gly		31815508	A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Missense_Mutation	SNP	ENST00000271064.7	37	CCDS343.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.263601	0.80358	.	.	ENSG00000142910	ENST00000457433;ENST00000441210;ENST00000271064;ENST00000537531;ENST00000403321	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	4.71	4.71	0.59529	Somatomedin B domain (2);	0.000000	0.85682	D	0.000000	T	0.44030	0.1274	M	0.91406	3.205	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.995	T	0.51545	-0.8692	10	0.87932	D	0	.	11.8873	0.52610	0.2909:0.7091:0.0:0.0	.	58;58;58	B4DPK6;E7EUP2;Q9GZM7	.;.;TINAL_HUMAN	G	58	ENSP00000395137:R58G;ENSP00000411798:R58G;ENSP00000271064:R58G;ENSP00000445392:R58G	ENSP00000271064:R58G	R	+	1	0	TINAGL1	31815508	0.990000	0.36364	0.997000	0.53966	0.992000	0.81027	1.472000	0.35376	2.618000	0.88619	0.655000	0.94253	CGT		0.692	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164	
SFPQ	6421	hgsc.bcm.edu	37	1	35656297	35656297	+	Silent	SNP	C	C	A	rs140545880		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr1:35656297C>A	ENST00000357214.5	-	3	1415	c.1317G>T	c.(1315-1317)acG>acT	p.T439T		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	439	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CAACTTACGTCGTCAGTAAGA	0.363			T	TFE3	papillary renal cell																																			Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	0			1											99.0	99.0	99.0					1																	35656297		2203	4300	6503	35428884	SO:0001819	synonymous_variant	6421			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1317G>T	1.37:g.35656297C>A			35428884	P30808|Q5SZ71	Silent	SNP	ENST00000357214.5	37	CCDS388.1																																																																																				0.363	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066	
PTPRF	5792	hgsc.bcm.edu	37	1	44085423	44085423	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr1:44085423C>T	ENST00000359947.4	+	29	5345	c.5005C>T	c.(5005-5007)Cgg>Tgg	p.R1669W	PTPRF_ENST00000372414.3_Missense_Mutation_p.R1669W|PTPRF_ENST00000422171.2_Missense_Mutation_p.R1028W|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1660W|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1660W|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1669	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTTCAAGAACCGGCTGGTGAA	0.582																																																	0			1											130.0	108.0	116.0					1																	44085423		2203	4300	6503	43858010	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5005C>T	1.37:g.44085423C>T	ENSP00000353030:p.Arg1669Trp		43858010	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.293520|4.293520	0.80914|0.80914	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.35973	.|1.28;1.28;1.28;1.28;1.28;1.28	5.2|5.2	5.2|5.2	0.72013|0.72013	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.|0.000000	.|0.34603	.|N	.|0.003835	T|T	0.75953|0.75953	0.3920|0.3920	H|H	0.99357|0.99357	4.53|4.53	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;0.999;1.0	D|D	0.85349|0.85349	0.1100|0.1100	5|10	.|0.87932	.|D	.|0	.|.	14.4696|14.4696	0.67506|0.67506	0.1473:0.8527:0.0:0.0|0.1473:0.8527:0.0:0.0	.|.	.|1314;1028;1246;1660;1669	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	L|W	1052;1093|1669;1660;1669;1660;1028;741	.|ENSP00000353030:R1669W;ENSP00000398822:R1660W;ENSP00000361491:R1669W;ENSP00000361490:R1660W;ENSP00000387885:R1028W;ENSP00000361484:R741W	.|ENSP00000353030:R1669W	P|R	+|+	2|1	0|2	PTPRF|PTPRF	43858010|43858010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.662000|4.662000	0.61525|0.61525	2.811000|2.811000	0.96726|0.96726	0.555000|0.555000	0.69702|0.69702	CCG|CGG		0.582	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		
NOTCH2	4853	hgsc.bcm.edu	37	1	120491706	120491706	+	Silent	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr1:120491706A>G	ENST00000256646.2	-	16	2742	c.2523T>C	c.(2521-2523)ccT>ccC	p.P841P		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	841	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATTCTCACAAGGGTTTGGGG	0.418			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0			1											144.0	142.0	143.0					1																	120491706		2203	4300	6503	120293229	SO:0001819	synonymous_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2523T>C	1.37:g.120491706A>G		1504	120293229	Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	CCDS908.1																																																																																				0.418	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
FLG	2312	hgsc.bcm.edu	37	1	152277452	152277452	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr1:152277452A>G	ENST00000368799.1	-	3	9945	c.9910T>C	c.(9910-9912)Tcc>Ccc	p.S3304P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3304	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTGGCGGGATCCGTGTCTC	0.572									Ichthyosis																																								0			1											380.0	373.0	375.0					1																	152277452		2203	4300	6503	150544076	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9910T>C	1.37:g.152277452A>G	ENSP00000357789:p.Ser3304Pro		150544076	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	7.126	0.578982	0.13686	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.10382	2.88	3.35	-6.7	0.01766	.	.	.	.	.	T	0.07324	0.0185	M	0.66939	2.045	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.55121	-0.8190	9	0.62326	D	0.03	.	0.3179	0.00298	0.1976:0.2458:0.2603:0.2963	.	3304	P20930	FILA_HUMAN	P	3304;242	ENSP00000357789:S3304P	ENSP00000357786:S242P	S	-	1	0	FLG	150544076	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-4.931000	0.00169	-4.671000	0.00037	0.248000	0.18094	TCC		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
ASH1L	55870	hgsc.bcm.edu	37	1	155491264	155491264	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr1:155491264T>C	ENST00000368346.3	-	2	686	c.47A>G	c.(46-48)gAa>gGa	p.E16G	ASH1L_ENST00000392403.3_Missense_Mutation_p.E16G|ASH1L_ENST00000548830.1_Missense_Mutation_p.E16G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	16					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGAAAAACCTTCGGAATCAGA	0.398																																																	0			1											169.0	165.0	166.0					1																	155491264		2203	4300	6503	153757888	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.47A>G	1.37:g.155491264T>C	ENSP00000357330:p.Glu16Gly		153757888	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	T	24.9	4.579297	0.86645	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.91521	-2.86;-2.86	6.03	6.03	0.97812	.	0.064498	0.64402	D	0.000017	T	0.75874	0.3909	N	0.08118	0	0.43569	D	0.995899	P;P	0.37330	0.455;0.59	B;B	0.37239	0.123;0.244	T	0.83257	-0.0050	10	0.87932	D	0	.	14.8022	0.69924	0.0:0.0:0.0:1.0	.	16;16	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	G	16	ENSP00000357330:E16G;ENSP00000376204:E16G	ENSP00000357330:E16G	E	-	2	0	ASH1L	153757888	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.721000	0.68477	2.313000	0.78055	0.455000	0.32223	GAA		0.398	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
INSRR	3645	hgsc.bcm.edu	37	1	156811210	156811210	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr1:156811210T>C	ENST00000368195.3	-	21	4034	c.3638A>G	c.(3637-3639)gAg>gGg	p.E1213G	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCCTCCAGCTCCTCCAGGAC	0.602																																																	0			1											55.0	56.0	56.0					1																	156811210		2203	4300	6503	155077834	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.3638A>G	1.37:g.156811210T>C	ENSP00000357178:p.Glu1213Gly		155077834	O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.075279	0.36662	.	.	ENSG00000027644	ENST00000368195	D	0.83075	-1.68	4.89	3.76	0.43208	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000415	T	0.62466	0.2430	.	.	.	0.33391	D	0.576087	B	0.09022	0.002	B	0.12156	0.007	T	0.60495	-0.7252	9	0.87932	D	0	.	7.7317	0.28791	0.0:0.1733:0.0:0.8267	.	1213	P14616	INSRR_HUMAN	G	1213	ENSP00000357178:E1213G	ENSP00000357178:E1213G	E	-	2	0	INSRR	155077834	0.029000	0.19370	1.000000	0.80357	0.739000	0.42172	0.770000	0.26618	0.886000	0.36113	0.459000	0.35465	GAG		0.602	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	
RALGPS2	55103	hgsc.bcm.edu	37	1	178753557	178753557	+	Missense_Mutation	SNP	G	G	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr1:178753557G>C	ENST00000367635.3	+	3	400	c.62G>C	c.(61-63)aGt>aCt	p.S21T	RALGPS2_ENST00000367634.2_Missense_Mutation_p.S21T	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	21					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TAACAGAAAAGTAGCAGCTCT	0.363																																																	0			1											101.0	97.0	99.0					1																	178753557		2203	4300	6503	177020180	SO:0001583	missense	55103			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.62G>C	1.37:g.178753557G>C	ENSP00000356607:p.Ser21Thr		177020180	B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117830	0.56505	.	.	ENSG00000116191	ENST00000367635;ENST00000367634	T;T	0.22336	1.96;1.99	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.22513	0.0543	L	0.59436	1.845	0.80722	D	1	B;P	0.38535	0.139;0.635	B;B	0.33339	0.051;0.162	T	0.03025	-1.1081	10	0.24483	T	0.36	.	18.0704	0.89404	0.0:0.0:1.0:0.0	.	21;21	B7Z7B1;Q86X27	.;RGPS2_HUMAN	T	21	ENSP00000356607:S21T;ENSP00000356606:S21T	ENSP00000356606:S21T	S	+	2	0	RALGPS2	177020180	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.898000	0.92538	2.567000	0.86603	0.467000	0.42956	AGT		0.363	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663	
PRG4	10216	hgsc.bcm.edu	37	1	186276935	186276935	+	Missense_Mutation	SNP	A	A	G	rs570889600	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr1:186276935A>G	ENST00000445192.2	+	7	2129	c.2084A>G	c.(2083-2085)gAg>gGg	p.E695G	PRG4_ENST00000367486.3_Missense_Mutation_p.E652G|PRG4_ENST00000367483.4_Missense_Mutation_p.E654G|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.E602G	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	695	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCCTAAGGAGCCTGCTCCA	0.592													-|||	6	0.00119808	0.0045	0.0	5008	,	,		13414	0.0		0.0	False		,,,				2504	0.0																0			1											85.0	101.0	96.0					1																	186276935		2203	4297	6500	184543558	SO:0001583	missense	23572			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2084A>G	1.37:g.186276935A>G	ENSP00000399679:p.Glu695Gly		184543558	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	1.580	-0.531745	0.04112	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05382	3.45;3.57;3.46;3.58	2.63	-5.26	0.02772	.	0.454506	0.15898	U	0.239196	T	0.05410	0.0143	L	0.61218	1.895	0.09310	N	1	B;B;B;B	0.09022	0.002;0.002;0.001;0.002	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.29822	-0.9999	9	.	.	.	.	4.0529	0.09803	0.6041:0.1814:0.1159:0.0986	.	561;602;695;654	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	G	652;561;654;602;695	ENSP00000356456:E652G;ENSP00000356453:E654G;ENSP00000356455:E602G;ENSP00000399679:E695G	.	E	+	2	0	PRG4	184543558	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.246000	0.01191	-2.875000	0.00321	-1.185000	0.01705	GAG		0.592	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
PRG4	10216	hgsc.bcm.edu	37	1	186276937	186276937	+	Missense_Mutation	SNP	C	C	A	rs199590878	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr1:186276937C>A	ENST00000445192.2	+	7	2131	c.2086C>A	c.(2086-2088)Cct>Act	p.P696T	PRG4_ENST00000367486.3_Missense_Mutation_p.P653T|PRG4_ENST00000367483.4_Missense_Mutation_p.P655T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.P603T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	696	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCTAAGGAGCCTGCTCCAAC	0.597													-|||	6	0.00119808	0.0045	0.0	5008	,	,		13517	0.0		0.0	False		,,,				2504	0.0																0			1											90.0	106.0	100.0					1																	186276937		2203	4297	6500	184543560	SO:0001583	missense	23572			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2086C>A	1.37:g.186276937C>A	ENSP00000399679:p.Pro696Thr		184543560	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	0.352	-0.944248	0.02322	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05319	3.5;3.61;3.46;3.56	2.63	-5.26	0.02772	.	0.368878	0.19612	N	0.110102	T	0.04952	0.0133	L	0.50333	1.59	0.18873	N	0.999986	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.32824	-0.9892	9	.	.	.	.	6.1241	0.20170	0.3826:0.4605:0.0:0.1569	.	562;603;696;655	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	T	653;562;655;603;696	ENSP00000356456:P653T;ENSP00000356453:P655T;ENSP00000356455:P603T;ENSP00000399679:P696T	.	P	+	1	0	PRG4	184543560	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.471000	0.06631	-4.461000	0.00047	-3.552000	0.00030	CCT		0.597	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
PHRF1	57661	hgsc.bcm.edu	37	11	609553	609553	+	Missense_Mutation	SNP	C	C	T	rs201571276		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr11:609553C>T	ENST00000264555.5	+	14	4225	c.4097C>T	c.(4096-4098)gCg>gTg	p.A1366V	PHRF1_ENST00000413872.2_Missense_Mutation_p.A1364V|PHRF1_ENST00000416188.2_Missense_Mutation_p.A1365V|PHRF1_ENST00000533464.1_Missense_Mutation_p.A1362V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1366					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GTGGCGCCTGCGGGGAAGGAA	0.697																																																	0			11						C	VAL/ALA	2,4020		0,2,2009	16.0	22.0	20.0		4094	-9.7	0.0	11		20	1,8317		0,1,4158	yes	missense	PHRF1	NM_020901.2	64	0,3,6167	TT,TC,CC		0.012,0.0497,0.0243	benign	1365/1649	609553	3,12337	2011	4159	6170	599553	SO:0001583	missense	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.4097C>T	11.37:g.609553C>T	ENSP00000264555:p.Ala1366Val		599553	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37		.	.	.	.	.	.	.	.	.	.	C	9.117	1.008033	0.19199	4.97E-4	1.2E-4	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	4.84	-9.68	0.00528	.	2.573560	0.02008	N	0.046762	T	0.41143	0.1146	N	0.01576	-0.805	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.47058	-0.9146	10	0.09590	T	0.72	.	3.2245	0.06728	0.1987:0.4227:0.1941:0.1846	.	1362;1364;1365;1366	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	V	1366;1364;1365;1362	ENSP00000264555:A1366V;ENSP00000388589:A1364V;ENSP00000410626:A1365V;ENSP00000431870:A1362V	ENSP00000264555:A1366V	A	+	2	0	PHRF1	599553	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.910000	0.00699	-2.153000	0.00793	-0.415000	0.06103	GCG		0.697	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901	
MUC2	4583	hgsc.bcm.edu	37	11	1093295	1093295	+	Missense_Mutation	SNP	C	C	T	rs200837746|rs200145328		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr11:1093295C>T	ENST00000441003.2	+	30	5141	c.5114C>T	c.(5113-5115)aCt>aTt	p.T1705I	MUC2_ENST00000359061.5_Missense_Mutation_p.T1672I|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.T1705I(1)|p.T1672I(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	accaccaccactacggtgacc	0.642																																																	2	Substitution - Missense(2)	large_intestine(2)	11											113.0	161.0	144.0					11																	1093295		1882	3466	5348	1083295	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5114C>T	11.37:g.1093295C>T	ENSP00000415183:p.Thr1705Ile		1083295	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	0.775	-0.764347	0.02996	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.11277	3.02;2.79	1.6	-0.698	0.11280	.	0.547305	0.11728	U	0.535177	T	0.05868	0.0153	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.38457	-0.9660	9	0.34782	T	0.22	.	3.0673	0.06219	0.0:0.5189:0.2842:0.1969	.	1705	E7EUV1	.	I	1705;1672	ENSP00000415183:T1705I;ENSP00000351956:T1672I	ENSP00000351956:T1672I	T	+	2	0	MUC2	1083295	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.065000	0.14466	-0.392000	0.07751	-1.238000	0.01547	ACT		0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
MUC2	4583	hgsc.bcm.edu	37	11	1093487	1093487	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr11:1093487T>C	ENST00000441003.2	+	30	5333	c.5306T>C	c.(5305-5307)cTc>cCc	p.L1769P	MUC2_ENST00000359061.5_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.L57P|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	accacggtactcatcaccacc	0.617																																																	0			11											87.0	109.0	101.0					11																	1093487		2098	4165	6263	1083487	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5306T>C	11.37:g.1093487T>C	ENSP00000415183:p.Leu1769Pro		1083487	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	4.893	0.165920	0.09339	.	.	ENSG00000198788	ENST00000441003;ENST00000333592	T;T	0.07688	3.17;3.64	1.6	-1.83	0.07833	.	.	.	.	.	T	0.06508	0.0167	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31998	-0.9923	8	0.62326	D	0.03	.	7.3495	0.26682	0.0:0.4199:0.0:0.5801	.	1769	E7EUV1	.	P	1769;57	ENSP00000415183:L1769P;ENSP00000331373:L57P	ENSP00000331373:L57P	L	+	2	0	MUC2	1083487	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.834000	0.27518	-1.088000	0.03077	-1.063000	0.02288	CTC		0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
OR51L1	119682	hgsc.bcm.edu	37	11	5020476	5020476	+	Nonsense_Mutation	SNP	G	G	A	rs199934313		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr11:5020476G>A	ENST00000321543.1	+	1	264	c.264G>A	c.(262-264)tgG>tgA	p.W88*		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTGTTATGGTTGGATGCTC	0.498																																																	0			11											223.0	173.0	190.0					11																	5020476		2201	4298	6499	4977052	SO:0001587	stop_gained	119682			AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.264G>A	11.37:g.5020476G>A	ENSP00000322156:p.Trp88*		4977052	Q6IFE5	Nonsense_Mutation	SNP	ENST00000321543.1	37	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	G	9.455	1.091570	0.20471	.	.	ENSG00000176798	ENST00000321543	.	.	.	5.44	2.52	0.30459	.	0.658924	0.12780	N	0.439715	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9576	0.47366	0.0665:0.0:0.6874:0.2461	.	.	.	.	X	88	.	ENSP00000322156:W88X	W	+	3	0	OR51L1	4977052	0.170000	0.23016	0.025000	0.17156	0.087000	0.18053	0.454000	0.21827	0.118000	0.18165	-2.511000	0.00188	TGG		0.498	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755	
SBF2	81846	hgsc.bcm.edu	37	11	9989940	9989940	+	Silent	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr11:9989940A>G	ENST00000256190.8	-	14	1685	c.1548T>C	c.(1546-1548)ccT>ccC	p.P516P		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	516					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GTGTGGCAGGAGGTGCATTCT	0.403																																																	0			11											153.0	146.0	148.0					11																	9989940		2201	4294	6495	9946516	SO:0001819	synonymous_variant	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.1548T>C	11.37:g.9989940A>G			9946516	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	ENST00000256190.8	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	A	9.922	1.212442	0.22289	.	.	ENSG00000133812	ENST00000420722	.	.	.	5.21	2.86	0.33363	.	.	.	.	.	T	0.46639	0.1403	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28586	-1.0039	4	.	.	.	.	3.6958	0.08364	0.5286:0.0:0.1669:0.3045	.	.	.	.	P	123	.	.	S	-	1	0	SBF2	9946516	0.995000	0.38212	1.000000	0.80357	0.931000	0.56810	0.470000	0.22084	0.285000	0.22329	0.374000	0.22700	TCC		0.403	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962	
POLA2	23649	hgsc.bcm.edu	37	11	65062101	65062101	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr11:65062101C>A	ENST00000265465.3	+	15	1969	c.1438C>A	c.(1438-1440)Ctg>Atg	p.L480M	POLA2_ENST00000541089.1_Missense_Mutation_p.L272M|POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	480					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GCTTTTCCACCTGGGGGCCGA	0.522																																																	0			11											94.0	90.0	91.0					11																	65062101		2201	4297	6498	64818677	SO:0001583	missense	23649			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1438C>A	11.37:g.65062101C>A	ENSP00000265465:p.Leu480Met		64818677	B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303948	0.23736	.	.	ENSG00000014138	ENST00000265465;ENST00000541089	T;T	0.38560	1.13;1.13	5.58	4.45	0.53987	DNA polymerase alpha/epsilon, subunit B (1);	0.155374	0.64402	N	0.000001	T	0.35480	0.0933	N	0.21142	0.635	0.38743	D	0.953935	B;B	0.32753	0.383;0.063	B;B	0.42827	0.399;0.107	T	0.24190	-1.0167	10	0.27785	T	0.31	-22.6843	10.9093	0.47099	0.834:0.166:0.0:0.0	.	272;480	B4DNB4;Q14181	.;DPOA2_HUMAN	M	480;272	ENSP00000265465:L480M;ENSP00000443222:L272M	ENSP00000265465:L480M	L	+	1	2	POLA2	64818677	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	6.498000	0.73679	0.968000	0.38212	-0.397000	0.06425	CTG		0.522	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689	
CHKA	1119	hgsc.bcm.edu	37	11	67842205	67842205	+	Silent	SNP	G	G	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr11:67842205G>A	ENST00000265689.4	-	4	635	c.609C>T	c.(607-609)ggC>ggT	p.G203G	CHKA_ENST00000356135.5_Silent_p.G185G	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	203					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	GCTCCAGTCGGCCTTGGGGAA	0.488																																																	0			11											125.0	119.0	121.0					11																	67842205		2200	4294	6494	67598781	SO:0001819	synonymous_variant	1119			D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"""choline kinase"""	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.609C>T	11.37:g.67842205G>A			67598781	Q8NE29	Silent	SNP	ENST00000265689.4	37	CCDS8178.1																																																																																				0.488	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394570.1	NM_001277	
SUV420H1	51111	hgsc.bcm.edu	37	11	67953362	67953362	+	Missense_Mutation	SNP	C	C	T	rs188627113		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr11:67953362C>T	ENST00000304363.4	-	3	547	c.194G>A	c.(193-195)cGc>cAc	p.R65H	SUV420H1_ENST00000405515.1_Missense_Mutation_p.R65H|SUV420H1_ENST00000401547.2_Missense_Mutation_p.R65H|SUV420H1_ENST00000402789.1_Missense_Mutation_p.R65H|SUV420H1_ENST00000402185.2_Missense_Mutation_p.R65H	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	65					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGGTACATAGCGACTCTGTCC	0.383																																																	0			11											125.0	119.0	121.0					11																	67953362		2200	4294	6494	67709938	SO:0001583	missense	51111			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.194G>A	11.37:g.67953362C>T	ENSP00000305899:p.Arg65His		67709938	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	CCDS31623.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	32	5.113794	0.94339	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000434573	T;T;T;T;T;T	0.58940	0.89;0.89;0.89;0.89;0.3;0.89	6.17	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.975;1.0	D;D;P;P	0.68621	0.959;0.945;0.707;0.828	T	0.75357	-0.3346	10	0.87932	D	0	-13.8747	16.8679	0.86033	0.1295:0.8705:0.0:0.0	.	65;65;65;65	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	H	65	ENSP00000305899:R65H;ENSP00000385965:R65H;ENSP00000385640:R65H;ENSP00000385005:R65H;ENSP00000384724:R65H;ENSP00000402921:R65H	ENSP00000305899:R65H	R	-	2	0	SUV420H1	67709938	1.000000	0.71417	0.959000	0.39883	0.987000	0.75469	7.818000	0.86416	1.590000	0.49995	0.655000	0.94253	CGC		0.383	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635	
DIXDC1	85458	hgsc.bcm.edu	37	11	111853109	111853109	+	Silent	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr11:111853109T>C	ENST00000440460.2	+	8	1110	c.813T>C	c.(811-813)ccT>ccC	p.P271P	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Silent_p.P60P	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	272	Actin-binding.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CCAGGGAGCCTGGAACCTATC	0.418											OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			11											44.0	46.0	45.0					11																	111853109		1841	4088	5929	111358319	SO:0001819	synonymous_variant	85458			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.813T>C	11.37:g.111853109T>C		1438	111358319	A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	ENST00000440460.2	37																																																																																					0.418	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954	
RREB1	6239	hgsc.bcm.edu	37	6	7231301	7231301	+	Missense_Mutation	SNP	A	A	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:7231301A>T	ENST00000349384.6	+	10	3283	c.2969A>T	c.(2968-2970)gAa>gTa	p.E990V	RREB1_ENST00000334984.6_Missense_Mutation_p.E990V|RREB1_ENST00000379933.3_Missense_Mutation_p.E990V|RREB1_ENST00000379938.2_Missense_Mutation_p.E990V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	990	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGAATCCTGGAAAGCCCCATG	0.682																																																	0			6											16.0	20.0	19.0					6																	7231301		2199	4293	6492	7176300	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2969A>T	6.37:g.7231301A>T	ENSP00000305560:p.Glu990Val		7176300	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.066712	0.76301	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.13089	2.75;2.7;2.75;2.62	5.74	4.58	0.56647	.	0.532999	0.17612	N	0.168044	T	0.11410	0.0278	L	0.50333	1.59	0.33069	D	0.535183	P;P;P	0.50710	0.912;0.938;0.879	P;P;P	0.51742	0.678;0.601;0.572	T	0.04153	-1.0973	10	0.44086	T	0.13	-9.4713	11.7947	0.52093	0.9313:0.0:0.0687:0.0	.	990;990;990	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	990	ENSP00000369265:E990V;ENSP00000369270:E990V;ENSP00000305560:E990V;ENSP00000335574:E990V	ENSP00000335574:E990V	E	+	2	0	RREB1	7176300	0.974000	0.33945	0.028000	0.17463	0.391000	0.30476	2.611000	0.46334	0.992000	0.38840	-0.290000	0.09829	GAA		0.682	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1		
MAK	4117	hgsc.bcm.edu	37	6	10764744	10764744	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:10764744G>A	ENST00000313243.2	-	14	2195	c.1813C>T	c.(1813-1815)Ccc>Tcc	p.P605S	MAK_ENST00000354489.2_Missense_Mutation_p.P605S|MAK_ENST00000538030.1_3'UTR|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.P605S|RP11-637O19.3_ENST00000480294.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	605					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GAGGGAATGGGCTGTGCACGG	0.488																																																	0			6											89.0	88.0	88.0					6																	10764744		2203	4300	6503	10872730	SO:0001583	missense	57538				CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1813C>T	6.37:g.10764744G>A	ENSP00000313021:p.Pro605Ser		10872730	F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	37	CCDS4516.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938538	0.34189	.	.	ENSG00000111837	ENST00000313243;ENST00000354489	T;T	0.73897	-0.79;-0.79	5.76	4.87	0.63330	.	0.234953	0.43579	D	0.000541	T	0.58666	0.2138	L	0.55103	1.725	0.80722	D	1	B	0.28439	0.212	B	0.28139	0.086	T	0.60444	-0.7262	10	0.37606	T	0.19	.	15.5767	0.76397	0.0:0.2604:0.7396:0.0	.	605	P20794	MAK_HUMAN	S	605	ENSP00000313021:P605S;ENSP00000346484:P605S	ENSP00000313021:P605S	P	-	1	0	MAK	10872730	1.000000	0.71417	0.975000	0.42487	0.437000	0.31866	2.289000	0.43523	1.373000	0.46208	0.655000	0.94253	CCC		0.488	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906	
KIAA0319	9856	hgsc.bcm.edu	37	6	24581175	24581175	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:24581175C>A	ENST00000378214.3	-	7	1782	c.1258G>T	c.(1258-1260)Gtc>Ttc	p.V420F	KIAA0319_ENST00000537886.1_Missense_Mutation_p.V420F|KIAA0319_ENST00000535378.1_Missense_Mutation_p.V411F|KIAA0319_ENST00000430948.2_Missense_Mutation_p.V375F|KIAA0319_ENST00000543707.1_Missense_Mutation_p.V420F	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	420	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTGACATTGACAAATCCTTCT	0.393											OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			6											157.0	152.0	154.0					6																	24581175		2203	4300	6503	24689154	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1258G>T	6.37:g.24581175C>A	ENSP00000367459:p.Val420Phe	772	24689154	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.704095	0.68615	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.10382	2.92;2.88;2.93;2.89;2.89	4.53	2.56	0.30785	PKD/Chitinase domain (1);	0.114832	0.37095	N	0.002246	T	0.26231	0.0640	M	0.92555	3.32	0.48511	D	0.999668	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.06917	-1.0800	10	0.59425	D	0.04	-12.1434	8.6531	0.34046	0.0:0.7614:0.1493:0.0892	.	420;411;420	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	F	420;411;375;420;420	ENSP00000439700:V420F;ENSP00000442403:V411F;ENSP00000401086:V375F;ENSP00000367459:V420F;ENSP00000437656:V420F	ENSP00000367459:V420F	V	-	1	0	KIAA0319	24689154	1.000000	0.71417	0.993000	0.49108	0.943000	0.58893	2.988000	0.49386	0.411000	0.25702	-0.345000	0.07892	GTC		0.393	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809	
ZKSCAN4	387032	hgsc.bcm.edu	37	6	28219605	28219605	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:28219605A>G	ENST00000377294.2	-	1	397	c.154T>C	c.(154-156)Tcc>Ccc	p.S52P	ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	52					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CGCTGGCGGGAGCGTTCGGGG	0.706																																																	0			6											21.0	26.0	24.0					6																	28219605		2187	4279	6466	28327584	SO:0001583	missense	387032			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.154T>C	6.37:g.28219605A>G	ENSP00000366509:p.Ser52Pro		28327584	B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007432	0.54361	.	.	ENSG00000187626	ENST00000377294	T	0.04758	3.56	4.33	3.12	0.35913	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	.	.	.	.	T	0.11324	0.0276	M	0.93106	3.38	0.36851	D	0.887898	D	0.53885	0.963	P	0.58331	0.837	T	0.03863	-1.0997	9	0.33141	T	0.24	.	9.1724	0.37091	0.8158:0.1841:0.0:0.0	.	52	Q969J2	ZKSC4_HUMAN	P	52	ENSP00000366509:S52P	ENSP00000366509:S52P	S	-	1	0	ZKSCAN4	28327584	0.010000	0.17322	0.067000	0.19924	0.277000	0.26821	2.547000	0.45786	0.726000	0.32339	0.533000	0.62120	TCC		0.706	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110	
DDR1	780	hgsc.bcm.edu	37	6	30866794	30866794	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:30866794T>C	ENST00000324771.8	+	19	3129	c.2581T>C	c.(2581-2583)Ttc>Ctc	p.F861L	DDR1_ENST00000361741.4_Intron|DDR1_ENST00000508312.1_Missense_Mutation_p.F842L|DDR1_ENST00000376568.3_Missense_Mutation_p.F861L|DDR1_ENST00000376567.2_Missense_Mutation_p.F824L|DDR1_ENST00000376569.3_Missense_Mutation_p.F824L|DDR1_ENST00000376570.4_Missense_Mutation_p.F824L|DDR1_ENST00000454612.2_Missense_Mutation_p.F824L|DDR1_ENST00000513240.1_Missense_Mutation_p.F867L|DDR1_ENST00000452441.1_Missense_Mutation_p.F861L|DDR1_ENST00000376575.3_Missense_Mutation_p.F867L|DDR1_ENST00000418800.2_Missense_Mutation_p.F824L|DDR1_ENST00000446312.1_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	861	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			QLTDEQVIENAGEFFRDQGRQ -> SAHRRAGHRERGGVLP GPGPA (in Ref. 6; CAA66871). {ECO:0000305}.	branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGGGGAGTTCTTCCGGGACCA	0.617																																																	0			6											61.0	58.0	59.0					6																	30866794		2203	4300	6503	30974773	SO:0001583	missense	780			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2581T>C	6.37:g.30866794T>C	ENSP00000318217:p.Phe861Leu		30974773	B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098384	0.76870	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240	D;D;D;D;D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	4.92	4.92	0.64577	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78610	0.4310	N	0.04090	-0.28	0.80722	D	1	B;P;P;B	0.41848	0.089;0.675;0.763;0.174	B;P;P;B	0.51974	0.092;0.595;0.686;0.171	D	0.84908	0.0846	10	0.59425	D	0.04	.	12.5342	0.56133	0.0:0.0:0.0:1.0	.	842;325;867;861	B7Z2K0;A2ABL4;Q08345-5;Q08345	.;.;.;DDR1_HUMAN	L	861;824;824;824;867;824;861;861;842;824;867	ENSP00000318217:F861L;ENSP00000407699:F824L;ENSP00000406091:F824L;ENSP00000365753:F824L;ENSP00000365759:F867L;ENSP00000365754:F824L;ENSP00000365752:F861L;ENSP00000405039:F861L;ENSP00000422442:F842L;ENSP00000365751:F824L;ENSP00000427552:F867L	ENSP00000318217:F861L	F	+	1	0	DDR1	30974773	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.942000	0.87708	1.856000	0.53863	0.383000	0.25322	TTC		0.617	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994	
DPCR1	135656	hgsc.bcm.edu	37	6	30919230	30919230	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:30919230T>C	ENST00000462446.1	+	2	3017	c.2989T>C	c.(2989-2991)Tcc>Ccc	p.S997P	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	348						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CACCACAACATCCCCAACAGA	0.507																																																	0			6											272.0	263.0	265.0					6																	30919230		692	1591	2283	31027209	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.2989T>C	6.37:g.30919230T>C	ENSP00000417182:p.Ser997Pro		31027209	C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	t	10.77	1.445242	0.25987	.	.	ENSG00000168631	ENST00000462446	T	0.50548	0.74	2.48	-4.97	0.03029	.	.	.	.	.	T	0.31167	0.0788	M	0.63428	1.95	0.09310	N	0.999997	D	0.57899	0.981	D	0.68621	0.959	T	0.35450	-0.9788	9	0.28530	T	0.3	.	0.3585	0.00361	0.3228:0.1277:0.1975:0.352	.	997	E9PEI6	.	P	997	ENSP00000417182:S997P	ENSP00000417182:S997P	S	+	1	0	DPCR1	31027209	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-1.554000	0.02172	-2.625000	0.00437	0.227000	0.17789	TCC		0.507	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870	
HLA-B	3106	hgsc.bcm.edu	37	6	31324917	31324917	+	Missense_Mutation	SNP	G	G	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:31324917G>C	ENST00000412585.2	-	1	47	c.19C>G	c.(19-21)Cga>Gga	p.R7G		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	7					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGGACGGTTCGGGGCGCCATG	0.682									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0			6											14.0	12.0	13.0					6																	31324917		2100	4078	6178	31432896	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.19C>G	6.37:g.31324917G>C	ENSP00000399168:p.Arg7Gly		31432896	Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	11.58	1.681701	0.29872	.	.	ENSG00000234745	ENST00000412585	T	0.00633	6.08	3.34	0.474	0.16768	.	5.945680	0.01256	N	0.009039	T	0.00412	0.0013	M	0.66506	2.035	0.09310	N	1	P	0.38992	0.653	B	0.37989	0.262	T	0.44159	-0.9346	10	0.72032	D	0.01	.	3.23	0.06745	0.2623:0.227:0.5107:0.0	.	7	P01889	1B07_HUMAN	G	7	ENSP00000399168:R7G	ENSP00000399168:R7G	R	-	1	2	HLA-B	31432896	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.153000	0.10144	0.244000	0.21351	0.442000	0.29010	CGA		0.682	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	
TTBK1	84630	hgsc.bcm.edu	37	6	43221071	43221071	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:43221071A>G	ENST00000259750.4	+	4	382	c.299A>G	c.(298-300)gAg>gGg	p.E100G	TTBK1_ENST00000304139.5_Missense_Mutation_p.E49G	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	100	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGCAGGAACGAGAAGTTTAAC	0.547																																																	0			6											149.0	124.0	133.0					6																	43221071		2203	4300	6503	43329049	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.299A>G	6.37:g.43221071A>G	ENSP00000259750:p.Glu100Gly		43329049	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932631	0.52866	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.66280	-0.2	4.76	3.57	0.40892	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.063510	0.64402	D	0.000007	T	0.47488	0.1448	N	0.16368	0.405	0.50039	D	0.999841	D	0.71674	0.998	D	0.65443	0.935	T	0.45804	-0.9236	10	0.27082	T	0.32	.	9.7439	0.40435	0.9127:0.0:0.0873:0.0	.	100	Q5TCY1	TTBK1_HUMAN	G	49;100;49	ENSP00000259750:E100G	ENSP00000259750:E100G	E	+	2	0	TTBK1	43329049	1.000000	0.71417	0.917000	0.36280	0.966000	0.64601	8.795000	0.91872	1.766000	0.52107	0.379000	0.24179	GAG		0.547	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		
LRRC1	55227	hgsc.bcm.edu	37	6	53778763	53778763	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:53778763A>G	ENST00000370888.1	+	11	1379	c.1102A>G	c.(1102-1104)Aac>Gac	p.N368D		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	368						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TGTGGCAGGGAACAGGTAAGC	0.448																																																	0			6											58.0	58.0	58.0					6																	53778763		1969	4163	6132	53886722	SO:0001583	missense	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1102A>G	6.37:g.53778763A>G	ENSP00000359925:p.Asn368Asp		53886722	Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436751	0.83885	.	.	ENSG00000137269	ENST00000370888	D	0.89196	-2.48	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	H	0.96365	3.81	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.96616	0.9456	10	0.72032	D	0.01	.	13.5688	0.61834	1.0:0.0:0.0:0.0	.	368	Q9BTT6	LRRC1_HUMAN	D	368	ENSP00000359925:N368D	ENSP00000359925:N368D	N	+	1	0	LRRC1	53886722	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	8.687000	0.91255	1.996000	0.58369	0.533000	0.62120	AAC		0.448	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168	
LMBRD1	55788	hgsc.bcm.edu	37	6	70410693	70410693	+	Silent	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:70410693T>C	ENST00000370577.3	-	12	1381	c.1152A>G	c.(1150-1152)ggA>ggG	p.G384G	LMBRD1_ENST00000370570.1_Silent_p.G311G	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	384					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TATTTCGAATTCCTGCCATTG	0.239																																																	0			6											16.0	17.0	17.0					6																	70410693		2145	4228	6373	70467414	SO:0001819	synonymous_variant	55788			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.1152A>G	6.37:g.70410693T>C			70467414	A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Silent	SNP	ENST00000370577.3	37	CCDS4969.1																																																																																				0.239	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368	
CEP162	22832	hgsc.bcm.edu	37	6	84913786	84913786	+	Silent	SNP	C	C	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:84913786C>T	ENST00000403245.3	-	7	714	c.600G>A	c.(598-600)gaG>gaA	p.E200E	KIAA1009_ENST00000257766.4_Silent_p.E124E	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CACCAACATACTCATCTTCAA	0.328																																																	0			6											99.0	101.0	100.0					6																	84913786		2203	4299	6502	84970505	SO:0001819	synonymous_variant	22832																														ENST00000403245.3:c.600G>A	6.37:g.84913786C>T			84970505		Silent	SNP	ENST00000403245.3	37	CCDS34494.2																																																																																				0.328	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1		
CDK19	23097	hgsc.bcm.edu	37	6	111136299	111136299	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:111136299T>C	ENST00000368911.3	-	1	220	c.41A>G	c.(40-42)gAg>gGg	p.E14G	CDK19_ENST00000323817.3_Intron|CDK19_ENST00000497709.1_Intron	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	14							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CTCCACCCGCTCCCGCTCCGC	0.627																																																	0			6											94.0	83.0	87.0					6																	111136299		2203	4300	6503	111242992	SO:0001583	missense	0			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.41A>G	6.37:g.111136299T>C	ENSP00000357907:p.Glu14Gly		111242992	Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.897845	0.72639	.	.	ENSG00000155111	ENST00000368911	T	0.62498	0.02	3.43	3.43	0.39272	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	L	0.52573	1.65	0.80722	D	1	B	0.34161	0.439	B	0.33521	0.165	T	0.45614	-0.9249	10	0.39692	T	0.17	-1.5891	12.0191	0.53333	0.0:0.0:0.0:1.0	.	14	Q9BWU1	CDK19_HUMAN	G	14	ENSP00000357907:E14G	ENSP00000357907:E14G	E	-	2	0	CDK19	111242992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.761000	0.74945	1.560000	0.49568	0.454000	0.30748	GAG		0.627	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076	
AHI1	54806	hgsc.bcm.edu	37	6	135644340	135644340	+	Silent	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:135644340T>C	ENST00000367800.4	-	23	3504	c.3288A>G	c.(3286-3288)ggA>ggG	p.G1096G	AHI1_ENST00000417892.2_Silent_p.G450G|AHI1_ENST00000457866.2_Silent_p.G1096G	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1096	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AACCTTCCTGTCCCTTTCCTA	0.408																																																	0			6											110.0	105.0	107.0					6																	135644340		1903	4098	6001	135686033	SO:0001819	synonymous_variant	54806			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.3288A>G	6.37:g.135644340T>C			135686033	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Silent	SNP	ENST00000367800.4	37	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	T	8.599	0.886436	0.17540	.	.	ENSG00000135541	ENST00000367799	.	.	.	6.06	2.24	0.28232	.	.	.	.	.	T	0.28466	0.0704	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15037	-1.0451	4	.	.	.	-20.8423	2.6852	0.05105	0.1199:0.1345:0.1248:0.6209	.	.	.	.	G	596	.	.	D	-	2	0	AHI1	135686033	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.770000	0.26618	0.150000	0.19136	0.533000	0.62120	GAC		0.408	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	
TXLNB	167838	hgsc.bcm.edu	37	6	139591742	139591742	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:139591742G>T	ENST00000358430.3	-	4	770	c.538C>A	c.(538-540)Caa>Aaa	p.Q180K	RP11-445F6.2_ENST00000441249.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	180						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AACTTCTTTTGCTCAGTACGA	0.408																																																	0			6											139.0	130.0	133.0					6																	139591742		2203	4300	6503	139633435	SO:0001583	missense	167838				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.538C>A	6.37:g.139591742G>T	ENSP00000351206:p.Gln180Lys		139633435	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524009	0.85600	.	.	ENSG00000164440	ENST00000358430	T	0.27890	1.64	5.6	5.6	0.85130	.	0.048088	0.85682	D	0.000000	T	0.31575	0.0801	L	0.49126	1.545	0.53688	D	0.999978	P	0.48407	0.91	P	0.49999	0.628	T	0.00697	-1.1605	9	.	.	.	-20.7686	19.9884	0.97356	0.0:0.0:1.0:0.0	.	180	Q8N3L3	TXLNB_HUMAN	K	180	ENSP00000351206:Q180K	.	Q	-	1	0	TXLNB	139633435	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.874000	0.87199	2.809000	0.96659	0.655000	0.94253	CAA		0.408	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235	
GRM1	2911	hgsc.bcm.edu	37	6	146720306	146720306	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:146720306T>C	ENST00000282753.1	+	7	2366	c.2131T>C	c.(2131-2133)Tca>Cca	p.S711P	GRM1_ENST00000355289.4_Missense_Mutation_p.S711P|GRM1_ENST00000507907.1_Missense_Mutation_p.S711P|GRM1_ENST00000492807.2_Missense_Mutation_p.S711P|GRM1_ENST00000392299.2_Missense_Mutation_p.S711P|GRM1_ENST00000361719.2_Missense_Mutation_p.S711P			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	711					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GATCATTGCCTCAATTCTGAT	0.502																																																	0			6											119.0	114.0	116.0					6																	146720306		2203	4300	6503	146761999	SO:0001583	missense	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2131T>C	6.37:g.146720306T>C	ENSP00000282753:p.Ser711Pro		146761999	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.363635	0.61513	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	5.51	5.51	0.81932	GPCR, family 3, C-terminal (2);	0.105668	0.64402	D	0.000002	T	0.79701	0.4491	N	0.04705	-0.18	0.47862	D	0.999533	P;D;P	0.62365	0.94;0.991;0.892	P;P;P	0.60473	0.601;0.875;0.477	D	0.83848	0.0261	10	0.35671	T	0.21	.	15.6147	0.76756	0.0:0.0:0.0:1.0	.	711;711;711	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	P	711	ENSP00000354896:S711P;ENSP00000376119:S711P;ENSP00000424095:S711P;ENSP00000282753:S711P;ENSP00000347437:S711P;ENSP00000425599:S711P	ENSP00000282753:S711P	S	+	1	0	GRM1	146761999	1.000000	0.71417	0.971000	0.41717	0.890000	0.51754	6.289000	0.72696	2.104000	0.64026	0.477000	0.44152	TCA		0.502	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
WDR81	124997	hgsc.bcm.edu	37	17	1628758	1628758	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr17:1628758T>C	ENST00000409644.1	+	1	505	c.505T>C	c.(505-507)Tca>Cca	p.S169P	WDR81_ENST00000437219.2_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Intron|WDR81_ENST00000419248.1_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	169					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCTGCCCCCTCAGCTGTCCC	0.587																																																	0			17											31.0	30.0	30.0					17																	1628758		692	1590	2282	1575508	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.505T>C	17.37:g.1628758T>C	ENSP00000386609:p.Ser169Pro		1575508	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	T	8.228	0.804120	0.16467	.	.	ENSG00000167716	ENST00000409644	T	0.54675	0.56	5.64	-2.4	0.06583	.	.	.	.	.	T	0.28234	0.0697	.	.	.	0.19300	N	0.999976	.	.	.	.	.	.	T	0.20240	-1.0281	6	0.21540	T	0.41	.	1.5223	0.02518	0.1156:0.23:0.2568:0.3976	.	.	.	.	P	169	ENSP00000386609:S169P	ENSP00000386609:S169P	S	+	1	0	WDR81	1575508	0.037000	0.19845	0.003000	0.11579	0.031000	0.12232	0.592000	0.23984	-0.327000	0.08551	0.528000	0.53228	TCA		0.587	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348	
SPNS2	124976	hgsc.bcm.edu	37	17	4439611	4439611	+	Silent	SNP	G	G	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr17:4439611G>A	ENST00000329078.3	+	11	1707	c.1497G>A	c.(1495-1497)ctG>ctA	p.L499L		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	499					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						GGGAGTTCCTGAGCCTGGGCT	0.637																																																	0			17											94.0	80.0	84.0					17																	4439611		1568	3582	5150	4386360	SO:0001819	synonymous_variant	124976			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1497G>A	17.37:g.4439611G>A			4386360	B9A1T3	Silent	SNP	ENST00000329078.3	37	CCDS42237.1																																																																																				0.637	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1		
TP53	7157	hgsc.bcm.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	rs28934874|rs137852790|rs137852791		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr17:7578479G>A	ENST00000269305.4	-	5	640	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000420246.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.P151S	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	CCGGGCGGGGGTGTGGAATCA	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	156	Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5)	upper_aerodigestive_tract(20)|large_intestine(17)|ovary(16)|lung(15)|oesophagus(12)|endometrium(11)|stomach(9)|breast(9)|central_nervous_system(7)|liver(7)|skin(7)|haematopoietic_and_lymphoid_tissue(5)|soft_tissue(4)|urinary_tract(4)|prostate(4)|bone(4)|vulva(2)|pancreas(2)|biliary_tract(1)	17	GRCh37	CM012662|CM941326	TP53	M	rs28934874						55.0	55.0	55.0					17																	7578479		2203	4300	6503	7519204	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.451C>T	17.37:g.7578479G>A	ENSP00000269305:p.Pro151Ser		7519204	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	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460739	0.63513	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99894	0.9949	M	0.87038	2.855	0.54753	D	0.999985	D;P;P;P;D;P;D	0.89917	0.99;0.941;0.92;0.835;0.98;0.953;1.0	P;P;P;P;P;P;D	0.97110	0.793;0.749;0.814;0.652;0.837;0.837;1.0	D	0.96419	0.9310	10	0.87932	D	0	-14.1156	17.4784	0.87667	0.0:0.0:1.0:0.0	rs28934874	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151S;ENSP00000352610:P151S;ENSP00000269305:P151S;ENSP00000398846:P151S;ENSP00000391127:P151S;ENSP00000391478:P151S;ENSP00000425104:P19S;ENSP00000423862:P58S;ENSP00000424104:P151S	ENSP00000269305:P151S	P	-	1	0	TP53	7519204	1.000000	0.71417	0.971000	0.41717	0.067000	0.16453	7.823000	0.86660	2.804000	0.96469	0.655000	0.94253	CCC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
FAM83G	644815	hgsc.bcm.edu	37	17	18875008	18875008	+	Silent	SNP	G	G	A	rs187116335		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr17:18875008G>A	ENST00000388995.6	-	6	2359	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Silent_p.D712D|FAM83G_ENST00000585154.2_Silent_p.D712D|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	712					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTGGGAAGCCGTCTTTATCCC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17217	0.001		0.0	False		,,,				2504	0.0																0			17						G	,,	0,3986		0,0,1993	47.0	56.0	53.0		2136,,	-4.4	0.1	17		53	3,8305		0,3,4151	no	coding-synonymous,intron,intron	SLC5A10,FAM83G	NM_001039999.2,NM_001042450.1,NM_152351.3	,,	0,3,6144	AA,AG,GG		0.0361,0.0,0.0244	,,	712/824,,	18875008	3,12291	1993	4154	6147	18815733	SO:0001819	synonymous_variant	644815			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2136C>T	17.37:g.18875008G>A			18815733	Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	CCDS42276.1																																																																																				0.622	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4		
CDC27	996	hgsc.bcm.edu	37	17	45214661	45214661	+	Silent	SNP	G	G	A	rs111322439		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr17:45214661G>A	ENST00000066544.3	-	14	1863	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	CDC27_ENST00000531206.1_Silent_p.F596F|CDC27_ENST00000446365.2_Silent_p.F529F|CDC27_ENST00000527547.1_Silent_p.F589F	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	590					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TAGCTCTCTGGAAGAATTTAA	0.383																																																	0			17											58.0	61.0	60.0					17																	45214661		2203	4300	6503	42569660	SO:0001819	synonymous_variant	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1770C>T	17.37:g.45214661G>A			42569660	G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	CCDS11509.1																																																																																				0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
BZRAP1	9256	hgsc.bcm.edu	37	17	56386607	56386607	+	Missense_Mutation	SNP	G	G	T	rs148608257|rs200436316	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr17:56386607G>T	ENST00000343736.4	-	22	4189	c.4026C>A	c.(4024-4026)gaC>gaA	p.D1342E	BZRAP1_ENST00000355701.3_Missense_Mutation_p.D1342E|BZRAP1_ENST00000268893.6_Missense_Mutation_p.D1282E			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1342	Poly-Glu.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					cctcctcctcgtcctcctctt	0.602																																																	0			17											66.0	68.0	68.0					17																	56386607		2203	4300	6503	53741606	SO:0001583	missense	9256			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4026C>A	17.37:g.56386607G>T	ENSP00000345824:p.Asp1342Glu		53741606	O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.380184	0.00205	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	D;D;D	0.86865	-2.18;-2.18;-2.18	5.22	-10.1	0.00402	.	0.488446	0.24454	N	0.038383	T	0.49660	0.1570	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.65825	-0.6074	10	0.02654	T	1	.	0.8864	0.01245	0.273:0.3319:0.1809:0.2142	.	1342;1282;1342	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	E	1342;1342;1282	ENSP00000347929:D1342E;ENSP00000345824:D1342E;ENSP00000268893:D1282E	ENSP00000268893:D1282E	D	-	3	2	BZRAP1	53741606	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-2.513000	0.00957	-1.250000	0.02497	-1.482000	0.00985	GAC		0.602	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758	
TRIM37	4591	hgsc.bcm.edu	37	17	57058104	57058104	+	IGR	SNP	G	G	A	rs61739451	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr17:57058104G>A	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Silent_p.P660P	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCAAATCCCCGGGAAACAGAG	0.428									Mulibrey Nanism				G|||	11	0.00219649	0.0076	0.0014	5008	,	,		19488	0.0		0.0	False		,,,				2504	0.0																0			17						G		36,4370	39.2+/-71.8	0,36,2167	141.0	151.0	148.0		1980	3.8	1.0	17	dbSNP_129	148	0,8600		0,0,4300	no	coding-synonymous	PPM1E	NM_014906.3		0,36,6467	AA,AG,GG		0.0,0.8171,0.2768		660/756	57058104	36,12970	2203	4300	6503	54412886	SO:0001628	intergenic_variant	22843	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57058104G>A			54412886	Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	ENST00000393066.3	37	CCDS45746.1																																																																																				0.428	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445928.1	NM_015294	
NOL11	25926	hgsc.bcm.edu	37	17	65716047	65716047	+	Missense_Mutation	SNP	A	A	G	rs547266367	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr17:65716047A>G	ENST00000253247.4	+	3	396	c.281A>G	c.(280-282)gAt>gGt	p.D94G	NOL11_ENST00000581966.1_3'UTR|NOL11_ENST00000535137.1_5'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	94					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AATAATGAAGATGTAAACCTG	0.234																																																	0			17											39.0	43.0	42.0					17																	65716047		2171	4245	6416	63146509	SO:0001583	missense	25926			AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.281A>G	17.37:g.65716047A>G	ENSP00000253247:p.Asp94Gly		63146509	B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.892891	0.33442	.	.	ENSG00000130935	ENST00000253247	T	0.56611	0.45	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	M	0.68952	2.095	0.80722	D	1	D	0.62365	0.991	P	0.60541	0.876	T	0.69435	-0.5146	10	0.72032	D	0.01	-17.8901	11.5959	0.50972	1.0:0.0:0.0:0.0	.	94	Q9H8H0	NOL11_HUMAN	G	94	ENSP00000253247:D94G	ENSP00000253247:D94G	D	+	2	0	NOL11	63146509	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.095000	0.89535	1.808000	0.52836	0.379000	0.24179	GAT		0.234	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462	
ABCA8	10351	hgsc.bcm.edu	37	17	66933106	66933106	+	Missense_Mutation	SNP	T	T	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr17:66933106T>A	ENST00000269080.2	-	4	589	c.452A>T	c.(451-453)cAc>cTc	p.H151L	ABCA8_ENST00000430352.2_Missense_Mutation_p.H151L|ABCA8_ENST00000586539.1_Missense_Mutation_p.H151L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	151					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATGGTCCTTGTGCTCCTTCTT	0.353																																																	0			17											148.0	123.0	132.0					17																	66933106		2203	4300	6503	64444701	SO:0001583	missense	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.452A>T	17.37:g.66933106T>A	ENSP00000269080:p.His151Leu		64444701	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	T	9.630	1.136035	0.21123	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225;ENST00000428549	D;D	0.86432	-2.12;-2.12	4.8	0.914	0.19360	.	0.684095	0.13381	N	0.392142	T	0.80292	0.4596	L	0.49256	1.55	0.09310	N	1	B;B;B;B;B	0.17038	0.016;0.02;0.009;0.007;0.009	B;B;B;B;B	0.23852	0.017;0.049;0.029;0.029;0.02	T	0.61436	-0.7063	10	0.11794	T	0.64	.	7.7443	0.28860	0.5036:0.0:0.0:0.4963	.	90;151;151;151;151	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	L	151;151;90;151	ENSP00000269080:H151L;ENSP00000402814:H151L	ENSP00000269080:H151L	H	-	2	0	ABCA8	64444701	0.158000	0.22850	0.061000	0.19648	0.020000	0.10135	0.672000	0.25187	0.346000	0.23899	0.533000	0.62120	CAC		0.353	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
TIAM1	7074	hgsc.bcm.edu	37	21	32589977	32589977	+	Silent	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr21:32589977A>G	ENST00000286827.3	-	10	2505	c.2034T>C	c.(2032-2034)cgT>cgC	p.R678R	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Silent_p.R678R	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	678			R -> C (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGGCCTGAGTACGTCTTCTCA	0.557																																																	0			21											154.0	125.0	135.0					21																	32589977		2203	4300	6503	31511848	SO:0001819	synonymous_variant	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2034T>C	21.37:g.32589977A>G			31511848	B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	CCDS13609.1																																																																																				0.557	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
KRTAP10-12	386685	hgsc.bcm.edu	37	21	46117576	46117576	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr21:46117576C>T	ENST00000400365.3	+	1	490	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	154	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CTGCTGTGTGCCCGTCTGCTG	0.617																																																	0			21											177.0	182.0	180.0					21																	46117576		2203	4300	6503	44942004	SO:0001583	missense	386685			AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.460C>T	21.37:g.46117576C>T	ENSP00000383216:p.Pro154Ser		44942004	B2RPA3	Missense_Mutation	SNP	ENST00000400365.3	37	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	c	2.310	-0.358108	0.05138	.	.	ENSG00000189169	ENST00000400365;ENST00000452870	T	0.00648	5.99	3.7	1.73	0.24493	.	.	.	.	.	T	0.00815	0.0027	L	0.49778	1.585	0.09310	N	1	B	0.24963	0.115	B	0.25884	0.064	T	0.44360	-0.9333	9	0.15952	T	0.53	.	10.0177	0.42024	0.3626:0.6374:0.0:0.0	.	154	P60413	KR10C_HUMAN	S	154;62	ENSP00000383216:P154S	ENSP00000383216:P154S	P	+	1	0	KRTAP10-12	44942004	0.001000	0.12720	0.001000	0.08648	0.016000	0.09150	0.087000	0.14958	0.117000	0.18138	0.305000	0.20034	CCC		0.617	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699	
ARHGAP17	55114	hgsc.bcm.edu	37	16	24942331	24942331	+	Silent	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr16:24942331A>G	ENST00000289968.6	-	19	2358	c.2289T>C	c.(2287-2289)acT>acC	p.T763T	ARHGAP17_ENST00000303665.5_Silent_p.T685T|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	763	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTAGGGGCGGAGTACTGGGGG	0.612																																																	0			16											74.0	89.0	84.0					16																	24942331		2197	4300	6497	24849832	SO:0001819	synonymous_variant	55114			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2289T>C	16.37:g.24942331A>G			24849832	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	CCDS32409.1																																																																																				0.612	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054	
NLRC5	84166	hgsc.bcm.edu	37	16	57065327	57065327	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr16:57065327T>C	ENST00000262510.6	+	11	2654	c.2429T>C	c.(2428-2430)cTc>cCc	p.L810P	NLRC5_ENST00000539144.1_Missense_Mutation_p.L810P|NLRC5_ENST00000436936.1_Missense_Mutation_p.L810P|NLRC5_ENST00000308149.7_Missense_Mutation_p.L810P	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	810				ADL -> RTI (in Ref. 1; AAO59377 and 2; ABO40479). {ECO:0000305}.	defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GAGGCGGACCTCATCTTCCTT	0.557																																																	0			16											138.0	114.0	122.0					16																	57065327		2198	4300	6498	55622828	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2429T>C	16.37:g.57065327T>C	ENSP00000262510:p.Leu810Pro		55622828	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.138040	0.56936	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.75260	-0.71;-0.74;-0.92;-0.74;2.26;0.24	4.18	4.18	0.49190	.	.	.	.	.	T	0.65811	0.2727	L	0.29908	0.895	0.54753	D	0.999983	B;B;B;B	0.31503	0.119;0.174;0.326;0.063	B;B;B;B	0.38458	0.072;0.143;0.274;0.068	T	0.68074	-0.5505	9	0.62326	D	0.03	.	9.9174	0.41444	0.0:0.0:0.0:1.0	.	810;810;810;810	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	P	810;810;810;284;810;317;109	ENSP00000262510:L810P;ENSP00000308886:L810P;ENSP00000389739:L810P;ENSP00000441727:L810P;ENSP00000441597:L317P;ENSP00000440153:L109P	ENSP00000262510:L810P	L	+	2	0	NLRC5	55622828	0.173000	0.23056	0.997000	0.53966	0.787000	0.44495	3.042000	0.49815	2.127000	0.65507	0.459000	0.35465	CTC		0.557	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
NFATC3	4775	hgsc.bcm.edu	37	16	68191791	68191791	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr16:68191791A>G	ENST00000346183.3	+	4	1445	c.1421A>G	c.(1420-1422)aAg>aGg	p.K474R	NFATC3_ENST00000575270.1_Missense_Mutation_p.K474R|NFATC3_ENST00000329524.4_Missense_Mutation_p.K474R|NFATC3_ENST00000349223.5_Missense_Mutation_p.K474R|NFATC3_ENST00000535127.2_3'UTR	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	474	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TATAACGAAAAGCCAATAAAT	0.373																																																	0			16											76.0	73.0	74.0					16																	68191791		2198	4300	6498	66749292	SO:0001583	missense	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1421A>G	16.37:g.68191791A>G	ENSP00000300659:p.Lys474Arg		66749292	O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.487086	0.84854	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.44482	0.92;0.92;0.92	4.99	4.99	0.66335	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63379	0.2506	M	0.71581	2.175	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	D;D;D;D	0.81914	0.995;0.919;0.995;0.988	T	0.67852	-0.5563	10	0.72032	D	0.01	-6.3024	14.6788	0.69001	1.0:0.0:0.0:0.0	.	474;474;474;474	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	R	474	ENSP00000264008:K474R;ENSP00000300659:K474R;ENSP00000331324:K474R	ENSP00000331324:K474R	K	+	2	0	NFATC3	66749292	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	8.925000	0.92832	1.883000	0.54544	0.477000	0.44152	AAG		0.373	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555	
DCC	1630	hgsc.bcm.edu	37	18	50866179	50866179	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr18:50866179T>C	ENST00000442544.2	+	15	2877	c.2261T>C	c.(2260-2262)gTg>gCg	p.V754A	DCC_ENST00000581580.1_Missense_Mutation_p.V409A|DCC_ENST00000412726.1_Missense_Mutation_p.V602A	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	754	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCAAACATCGTGGTGCGAGGT	0.488																																																	0			18											215.0	178.0	191.0					18																	50866179		2203	4300	6503	49120177	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2261T>C	18.37:g.50866179T>C	ENSP00000389140:p.Val754Ala		49120177		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.889824	0.52014	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.56444	0.46;0.46	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.099300	0.42964	D	0.000635	T	0.71273	0.3320	M	0.68593	2.085	0.44702	D	0.997693	B;B;P	0.38223	0.26;0.26;0.623	P;P;P	0.62382	0.813;0.813;0.901	T	0.73357	-0.4008	10	0.72032	D	0.01	.	14.2812	0.66213	0.0:0.0:0.0:1.0	.	602;602;754	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	A	754;687;602	ENSP00000389140:V754A;ENSP00000397322:V602A	ENSP00000304146:V687A	V	+	2	0	DCC	49120177	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.755000	0.85180	2.074000	0.62210	0.533000	0.62120	GTG		0.488	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
MLH1	4292	hgsc.bcm.edu	37	3	37089037	37089037	+	Missense_Mutation	SNP	A	A	G	rs267607862		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr3:37089037A>G	ENST00000231790.2	+	16	1975	c.1759A>G	c.(1759-1761)Atg>Gtg	p.M587V	MLH1_ENST00000455445.2_Missense_Mutation_p.M346V|MLH1_ENST00000435176.1_Missense_Mutation_p.M489V|MLH1_ENST00000458205.2_Missense_Mutation_p.M346V|MLH1_ENST00000539477.1_Missense_Mutation_p.M346V|MLH1_ENST00000536378.1_Missense_Mutation_p.M346V	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	587	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.M587V(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGACCTTGCCATGCTTGCCTT	0.473		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	2	Substitution - Missense(1)|Whole gene deletion(1)	ovary(1)|stomach(1)	3											113.0	104.0	107.0					3																	37089037		2203	4300	6503	37064041	SO:0001583	missense	4292	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1759A>G	3.37:g.37089037A>G	ENSP00000231790:p.Met587Val		37064041	B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.284931	0.59867	.	.	ENSG00000076242	ENST00000231790;ENST00000383761;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378	D;D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.92344	0.7571	M	0.67397	2.05	0.80722	D	1	P;B;B;B	0.37663	0.604;0.108;0.108;0.025	B;B;B;B	0.37780	0.258;0.157;0.157;0.104	D	0.91760	0.5419	10	0.39692	T	0.17	-26.2898	15.7458	0.77939	1.0:0.0:0.0:0.0	.	489;587;587;587	E9PCU2;B2R6K0;Q53GX1;P40692	.;.;.;MLH1_HUMAN	V	587;451;346;346;346;489;346	ENSP00000231790:M587V;ENSP00000402667:M346V;ENSP00000443665:M346V;ENSP00000398272:M346V;ENSP00000402564:M489V;ENSP00000444286:M346V	ENSP00000231790:M587V	M	+	1	0	MLH1	37064041	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	9.092000	0.94157	2.130000	0.65690	0.477000	0.44152	ATG		0.473	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249	
GOLGA4	2803	hgsc.bcm.edu	37	3	37368886	37368886	+	Missense_Mutation	SNP	G	G	A	rs148910546		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr3:37368886G>A	ENST00000361924.2	+	14	5883	c.5509G>A	c.(5509-5511)Gac>Aac	p.D1837N	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.D1859N	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1837	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGTGTTTGACGACGTCCAGAA	0.383																																																	0			3						G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	55.0	56.0	56.0		5575,5509	-1.5	0.0	3	dbSNP_134	56	0,8598		0,0,4299	no	missense,missense	GOLGA4	NM_001172713.1,NM_002078.4	23,23	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	1859/2244,1837/2231	37368886	1,13003	2203	4299	6502	37343890	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5509G>A	3.37:g.37368886G>A	ENSP00000354486:p.Asp1837Asn		37343890	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	5.791	0.330187	0.10956	2.27E-4	0.0	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.23754	1.9;1.89;1.9	5.17	-1.49	0.08718	.	1.413550	0.05130	N	0.492446	T	0.18087	0.0434	L	0.35723	1.085	0.09310	N	1	B;B;B;B	0.14438	0.008;0.008;0.008;0.01	B;B;B;B	0.08055	0.003;0.003;0.003;0.002	T	0.25882	-1.0119	10	0.24483	T	0.36	.	5.2699	0.15618	0.3916:0.0:0.4817:0.1267	.	1837;1837;1859;1837	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	N	1837;1859;1708	ENSP00000354486:D1837N;ENSP00000349305:D1859N;ENSP00000405842:D1708N	ENSP00000349305:D1859N	D	+	1	0	GOLGA4	37343890	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-0.006000	0.12833	-0.393000	0.07739	-0.362000	0.07510	GAC		0.383	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
SMARCC1	6599	hgsc.bcm.edu	37	3	47719762	47719762	+	Silent	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr3:47719762A>G	ENST00000254480.5	-	16	1616	c.1497T>C	c.(1495-1497)cgT>cgC	p.R499R	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	499	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GGGGGTTTAGACGATACGTGT	0.388																																																	0			3											143.0	137.0	139.0					3																	47719762		2203	4300	6503	47694766	SO:0001819	synonymous_variant	6599			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1497T>C	3.37:g.47719762A>G			47694766	Q17RS0|Q6P172|Q8IWH2	Silent	SNP	ENST00000254480.5	37	CCDS2758.1																																																																																				0.388	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1		
LAMB2	3913	hgsc.bcm.edu	37	3	49166570	49166570	+	Silent	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr3:49166570T>C	ENST00000418109.1	-	14	1778	c.1614A>G	c.(1612-1614)acA>acG	p.T538T	LAMB2_ENST00000305544.4_Silent_p.T538T	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	538	Laminin EGF-like 5; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCATTGACCTGTGCCCTCAT	0.572																																																	0			3											72.0	66.0	68.0					3																	49166570		2203	4300	6503	49141574	SO:0001819	synonymous_variant	84823				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1614A>G	3.37:g.49166570T>C			49141574	Q16321	Silent	SNP	ENST00000418109.1	37	CCDS2789.1																																																																																				0.572	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292	
SPCS1	28972	hgsc.bcm.edu	37	3	52740182	52740182	+	5'UTR	SNP	C	C	G	rs6617	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr3:52740182C>G	ENST00000602728.1	+	0	89				GLT8D1_ENST00000407584.3_5'Flank|GLT8D1_ENST00000394783.3_5'Flank|GLT8D1_ENST00000266014.5_5'Flank|SPCS1_ENST00000423431.1_Intron|GLT8D1_ENST00000491606.1_5'Flank|SPCS1_ENST00000233025.7_Missense_Mutation_p.P41A|GLT8D1_ENST00000478968.2_5'Flank			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		CCAGACCTTACCCCTCACGGT	0.697													G|||	2230	0.445288	0.5575	0.5144	5008	,	,		13167	0.4286		0.4304	False		,,,				2504	0.2771																0			3											10.0	15.0	14.0					3																	52740182		687	1590	2277	52715222	SO:0001623	5_prime_UTR_variant	28972			AF092138	CCDS33769.2	3p21.31	2005-01-05			ENSG00000114902	ENSG00000114902			23401	protein-coding gene	gene with protein product		610358				8632014	Standard	NM_014041		Approved	SPC12, HSPC033, YJR010C-A, SPC1	uc011bei.2	Q9Y6A9	OTTHUMG00000154930	ENST00000602728.1:c.-81C>G	3.37:g.52740182C>G			52715222	B3KNF8|Q9BVW1	Missense_Mutation	SNP	ENST00000602728.1	37		1074	0.49175824175824173	273	0.5548780487804879	192	0.5303867403314917	280	0.48951048951048953	329	0.4340369393139842	G	1.062	-0.672572	0.03403	.	.	ENSG00000114902	ENST00000233025	.	.	.	3.96	-4.39	0.03611	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41716	-0.9493	7	0.02654	T	1	.	3.0659	0.06214	0.2759:0.4525:0.1602:0.1114	rs6617;rs1139798;rs3184127;rs17548630;rs6617	41	Q9Y6A9	SPCS1_HUMAN	A	41	.	ENSP00000233025:P41A	P	+	1	0	SPCS1	52715222	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.407000	0.02488	-1.177000	0.02744	-0.127000	0.14921	CCC		0.697	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467759.1	NM_014041	
SNTN	132203	hgsc.bcm.edu	37	3	63638415	63638415	+	Missense_Mutation	SNP	G	G	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr3:63638415G>C	ENST00000343837.3	+	1	72	c.52G>C	c.(52-54)Gat>Cat	p.D18H	SNTN_ENST00000496807.1_Missense_Mutation_p.D14H	NM_001080537.1	NP_001074006.1	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	18						cilium (GO:0005929)	calcium ion binding (GO:0005509)			endometrium(2)|ovary(1)	3						CTTGGAAGGAGATCCCAATCC	0.478																																																	0			3											138.0	105.0	116.0					3																	63638415		2203	4300	6503	63613455	SO:0001583	missense	132203			AK126350	CCDS33779.1	3p14.2	2009-03-10	2009-03-10		ENSG00000188817	ENSG00000188817			33706	protein-coding gene	gene with protein product	"""S100A-like protein"""					18829862	Standard	NM_001080537		Approved	FLJ44379, S100AL	uc003dlr.3	A6NMZ2	OTTHUMG00000158766	ENST00000343837.3:c.52G>C	3.37:g.63638415G>C	ENSP00000341442:p.Asp18His		63613455	B7FF65	Missense_Mutation	SNP	ENST00000343837.3	37	CCDS33779.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355103	0.24512	.	.	ENSG00000188817	ENST00000343837;ENST00000469440;ENST00000496807	T	0.45668	0.89	5.25	2.39	0.29439	.	0.615469	0.15218	N	0.274103	T	0.28764	0.0713	N	0.22421	0.69	0.09310	N	1	P	0.39624	0.681	B	0.41946	0.371	T	0.12116	-1.0560	10	0.62326	D	0.03	0.7398	4.8729	0.13642	0.1908:0.1781:0.6311:0.0	.	18	A6NMZ2	SNTAN_HUMAN	H	18;18;14	ENSP00000341442:D18H	ENSP00000341442:D18H	D	+	1	0	SNTN	63613455	0.037000	0.19845	0.062000	0.19696	0.182000	0.23217	0.176000	0.16782	0.682000	0.31407	0.591000	0.81541	GAT		0.478	SNTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352094.1	NM_001080537	
ARL13B	200894	hgsc.bcm.edu	37	3	93755533	93755533	+	Silent	SNP	G	G	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr3:93755533G>A	ENST00000394222.3	+	5	899	c.624G>A	c.(622-624)caG>caA	p.Q208Q	ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000303097.7_Silent_p.Q101Q|ARL13B_ENST00000471138.1_Silent_p.Q208Q|ARL13B_ENST00000535334.1_Silent_p.Q105Q|ARL13B_ENST00000539730.1_5'UTR	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	208					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						CAACAGAGCAGCGTGCTCTTG	0.388																																																	0			3											72.0	70.0	71.0					3																	93755533		2203	4300	6503	95238223	SO:0001819	synonymous_variant	200894			AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.624G>A	3.37:g.93755533G>A			95238223	D3DN29|G3V1S8|Q504W8|Q8TCL5	Silent	SNP	ENST00000394222.3	37	CCDS2925.1																																																																																				0.388	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896	
CBLB	868	hgsc.bcm.edu	37	3	105470358	105470358	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr3:105470358C>T	ENST00000264122.4	-	5	992	c.671G>A	c.(670-672)tGc>tAc	p.C224Y	CBLB_ENST00000403724.1_Missense_Mutation_p.C224Y|CBLB_ENST00000394027.3_Missense_Mutation_p.C246Y|CBLB_ENST00000545639.1_Missense_Mutation_p.C197Y|CBLB_ENST00000405772.1_Missense_Mutation_p.C224Y	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	224	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|EF-hand-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GTAATCATTGCAAGTTAAATC	0.383			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0			3											83.0	80.0	81.0					3																	105470358		2203	4300	6503	106953048	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.671G>A	3.37:g.105470358C>T	ENSP00000264122:p.Cys224Tyr		106953048	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011465	0.75046	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772;ENST00000545639	D;D;D;D	0.85702	-1.96;-1.97;-2.01;-2.02	5.32	4.43	0.53597	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.000000	0.85682	D	0.000000	D	0.92954	0.7758	M	0.86573	2.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.993;0.988;0.995	D	0.94186	0.7436	10	0.87932	D	0	-6.5133	15.4627	0.75373	0.1398:0.8602:0.0:0.0	.	246;224;224	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	Y	224;246;224;224;197	ENSP00000264122:C224Y;ENSP00000377595:C246Y;ENSP00000384816:C224Y;ENSP00000384938:C224Y	ENSP00000264122:C224Y	C	-	2	0	CBLB	106953048	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.830000	0.62745	1.335000	0.45486	0.650000	0.86243	TGC		0.383	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662	
SIDT1	54847	hgsc.bcm.edu	37	3	113299554	113299554	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr3:113299554A>G	ENST00000264852.4	+	5	1387	c.661A>G	c.(661-663)Atg>Gtg	p.M221V	SIDT1_ENST00000393830.3_Missense_Mutation_p.M221V	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	221					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCAGAATATCATGGTGAGTGC	0.393																																																	0			3											167.0	163.0	164.0					3																	113299554		2203	4300	6503	114782244	SO:0001583	missense	54847			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.661A>G	3.37:g.113299554A>G	ENSP00000264852:p.Met221Val		114782244	Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.422468	0.25639	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.21361	2.01;2.01	5.53	4.22	0.49857	.	0.074568	0.56097	D	0.000025	T	0.05318	0.0141	N	0.00926	-1.1	0.28079	N	0.932262	B	0.02656	0.0	B	0.09377	0.004	T	0.16660	-1.0395	10	0.28530	T	0.3	-12.5217	2.0146	0.03495	0.5702:0.0:0.174:0.2558	.	221	Q9NXL6	SIDT1_HUMAN	V	221	ENSP00000264852:M221V;ENSP00000377416:M221V	ENSP00000264852:M221V	M	+	1	0	SIDT1	114782244	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.773000	0.38563	2.232000	0.73038	0.402000	0.26972	ATG		0.393	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699	
POLQ	10721	hgsc.bcm.edu	37	3	121230739	121230739	+	Missense_Mutation	SNP	G	G	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr3:121230739G>C	ENST00000264233.5	-	10	1734	c.1606C>G	c.(1606-1608)Ctg>Gtg	p.L536V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	536	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTTACCTCCAGAATAGCTCGT	0.353								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0			3											108.0	105.0	106.0					3																	121230739		2203	4300	6503	122713429	SO:0001583	missense	51426			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1606C>G	3.37:g.121230739G>C	ENSP00000264233:p.Leu536Val		122713429	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611246	0.46631	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.57107	0.42	5.32	2.54	0.30619	Helicase, C-terminal (1);	0.171732	0.39020	N	0.001499	T	0.62478	0.2431	M	0.91717	3.235	0.50171	D	0.999857	P	0.41748	0.761	B	0.43360	0.417	T	0.68078	-0.5504	10	0.87932	D	0	.	9.8229	0.40894	0.2221:0.0:0.7779:0.0	.	536	O75417	DPOLQ_HUMAN	V	159;536;672	ENSP00000264233:L536V	ENSP00000264233:L536V	L	-	1	2	POLQ	122713429	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.016000	0.49607	0.608000	0.30000	0.455000	0.32223	CTG		0.353	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
ZNF148	7707	hgsc.bcm.edu	37	3	125032392	125032392	+	Silent	SNP	T	T	C	rs36112318		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr3:125032392T>C	ENST00000360647.4	-	4	578	c.93A>G	c.(91-93)ggA>ggG	p.G31G	ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000485866.1_Silent_p.G31G|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Silent_p.G31G|ZNF148_ENST00000484491.1_Silent_p.G31G	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	31					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GGCCAGACACTCCACCCATTA	0.458																																																	0			3											150.0	139.0	143.0					3																	125032392		2203	4300	6503	126515082	SO:0001819	synonymous_variant	7707			U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.93A>G	3.37:g.125032392T>C			126515082	D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Silent	SNP	ENST00000360647.4	37	CCDS3031.1																																																																																				0.458	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964	
EPHB1	2047	hgsc.bcm.edu	37	3	134967347	134967347	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr3:134967347G>A	ENST00000398015.3	+	14	3056	c.2686G>A	c.(2686-2688)Gcc>Acc	p.A896T	EPHB1_ENST00000493838.1_Missense_Mutation_p.A457T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	896					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AACCATCACCGCCGTGTGAGT	0.522																																																	0			3											16.0	19.0	18.0					3																	134967347		2120	4271	6391	136450037	SO:0001583	missense	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2686G>A	3.37:g.134967347G>A	ENSP00000381097:p.Ala896Thr		136450037	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205643	0.58234	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.61980	0.06;0.06	5.35	5.35	0.76521	Protein kinase-like domain (1);	0.057386	0.64402	D	0.000002	T	0.52125	0.1715	L	0.36672	1.1	0.49915	D	0.999831	B	0.02656	0.0	B	0.01281	0.0	T	0.43180	-0.9407	10	0.37606	T	0.19	.	13.8532	0.63510	0.0728:0.0:0.9272:0.0	.	896	P54762	EPHB1_HUMAN	T	896;457	ENSP00000381097:A896T;ENSP00000419574:A457T	ENSP00000381097:A896T	A	+	1	0	EPHB1	136450037	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.892000	0.48625	2.941000	0.99782	0.655000	0.94253	GCC		0.522	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441	
SLC35G2	80723	hgsc.bcm.edu	37	3	136573507	136573507	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr3:136573507T>C	ENST00000446465.2	+	2	833	c.205T>C	c.(205-207)Ttt>Ctt	p.F69L	RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.F69L|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2									p.A67_M72>V(1)									GAGAGCTTTCTTTGGAACCAT	0.383																																																	1	Complex - deletion inframe(1)	ovary(1)	3											76.0	84.0	81.0					3																	136573507		2203	4300	6503	138056197	SO:0001583	missense	80723			BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.205T>C	3.37:g.136573507T>C	ENSP00000400839:p.Phe69Leu		138056197		Missense_Mutation	SNP	ENST00000446465.2	37	CCDS3091.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.802819	0.31869	.	.	ENSG00000168917	ENST00000446465;ENST00000393079	T;T	0.32515	1.45;1.45	5.33	5.33	0.75918	.	0.051201	0.85682	D	0.000000	T	0.30070	0.0753	L	0.50333	1.59	0.58432	D	0.999995	B	0.14012	0.009	B	0.12156	0.007	T	0.04551	-1.0943	10	0.36615	T	0.2	.	14.1289	0.65240	0.0:0.0:0.0:1.0	.	69	Q8TBE7	TMM22_HUMAN	L	69	ENSP00000400839:F69L;ENSP00000376794:F69L	ENSP00000376794:F69L	F	+	1	0	TMEM22	138056197	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	5.694000	0.68272	2.020000	0.59435	0.402000	0.26972	TTT		0.383	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246	
SLC35G2	80723	hgsc.bcm.edu	37	3	136573509	136573509	+	Missense_Mutation	SNP	T	T	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr3:136573509T>A	ENST00000446465.2	+	2	835	c.207T>A	c.(205-207)ttT>ttA	p.F69L	RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.F69L|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2									p.A67_M72>V(1)									GAGCTTTCTTTGGAACCATGG	0.378																																																	1	Complex - deletion inframe(1)	ovary(1)	3											75.0	83.0	80.0					3																	136573509		2203	4300	6503	138056199	SO:0001583	missense	80723			BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.207T>A	3.37:g.136573509T>A	ENSP00000400839:p.Phe69Leu		138056199		Missense_Mutation	SNP	ENST00000446465.2	37	CCDS3091.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.593535	0.28357	.	.	ENSG00000168917	ENST00000446465;ENST00000393079	T;T	0.32515	1.45;1.45	5.33	4.19	0.49359	.	0.051201	0.85682	D	0.000000	T	0.25195	0.0612	L	0.50333	1.59	0.53005	D	0.999966	B	0.14012	0.009	B	0.12156	0.007	T	0.08472	-1.0720	10	0.36615	T	0.2	.	7.0869	0.25261	0.0:0.1701:0.0:0.8299	.	69	Q8TBE7	TMM22_HUMAN	L	69	ENSP00000400839:F69L;ENSP00000376794:F69L	ENSP00000376794:F69L	F	+	3	2	TMEM22	138056199	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	3.022000	0.49659	2.020000	0.59435	0.402000	0.26972	TTT		0.378	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246	
PIK3CA	5290	hgsc.bcm.edu	37	3	178951890	178951890	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	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		
PIK3CA	5290	hgsc.bcm.edu	37	3	178952046	178952046	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr3:178952046A>G	ENST00000263967.3	+	21	3258	c.3101A>G	c.(3100-3102)gAg>gGg	p.E1034G	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1034	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.E1034G(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)	ACTGAGCAAGAGGCTTTGGAG	0.393		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)	liver(1)	3											97.0	86.0	89.0					3																	178952046		1886	4124	6010	180434740	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.3101A>G	3.37:g.178952046A>G	ENSP00000263967:p.Glu1034Gly		180434740	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.831404	0.71258	.	.	ENSG00000121879	ENST00000263967	D	0.83335	-1.71	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.88306	0.6401	M	0.81682	2.555	0.80722	D	1	D	0.54601	0.967	P	0.50791	0.65	D	0.89905	0.4047	10	0.87932	D	0	-16.0336	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1034	P42336	PK3CA_HUMAN	G	1034	ENSP00000263967:E1034G	ENSP00000263967:E1034G	E	+	2	0	PIK3CA	180434740	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	GAG		0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178952068	178952068	+	Silent	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr3:178952068A>G	ENST00000263967.3	+	21	3280	c.3123A>G	c.(3121-3123)aaA>aaG	p.K1041K	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1041	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.K1041N(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)	ATTTCATGAAACAAATGAATG	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											95.0	85.0	88.0					3																	178952068		1902	4125	6027	180434762	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.3123A>G	3.37:g.178952068A>G			180434762	Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	CCDS43171.1																																																																																				0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
FXR1	8087	hgsc.bcm.edu	37	3	180675611	180675611	+	Silent	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr3:180675611A>G	ENST00000357559.4	+	10	1269	c.885A>G	c.(883-885)aaA>aaG	p.K295K	FXR1_ENST00000468861.1_Silent_p.K210K|FXR1_ENST00000445140.2_Silent_p.K295K|FXR1_ENST00000480918.1_Silent_p.K282K|FXR1_ENST00000491062.1_Silent_p.K246K|FXR1_ENST00000305586.7_Silent_p.K210K	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	295	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CTAAAGGAAAAGTAATTGGAA	0.333																																																	0			3											74.0	82.0	79.0					3																	180675611		2203	4300	6503	182158305	SO:0001819	synonymous_variant	8087			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.885A>G	3.37:g.180675611A>G			182158305	A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	ENST00000357559.4	37	CCDS3238.1																																																																																				0.333	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5		
CD163L1	283316	hgsc.bcm.edu	37	12	7549009	7549009	+	Missense_Mutation	SNP	C	C	T	rs4072797	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr12:7549009C>T	ENST00000313599.3	-	8	1789	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N	CD163L1_ENST00000416109.2_Missense_Mutation_p.D588N|CD163L1_ENST00000396630.1_Missense_Mutation_p.D578N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	578			D -> N (in dbSNP:rs4072797).			extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CATGTTGCATCACCTGCACCA	0.502													T|||	903	0.180312	0.3351	0.0937	5008	,	,		-128	0.2073		0.0328	False		,,,				2504	0.1564																0			12						T	ASN/ASP	1226,3180	696.3+/-406.1	159,908,1136	35.0	28.0	31.0		1732	-2.1	0.0	12	dbSNP_108	31	277,8323	795.1+/-407.5	4,269,4027	yes	missense	CD163L1	NM_174941.4	23	163,1177,5163	TT,TC,CC		3.2209,27.8257,11.5562	benign	578/1454	7549009	1503,11503	2203	4300	6503	7440276	SO:0001583	missense	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1732G>A	12.37:g.7549009C>T	ENSP00000315945:p.Asp578Asn		7440276	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	302	0.1382783882783883	146	0.2967479674796748	35	0.09668508287292818	97	0.16958041958041958	24	0.0316622691292876	T	3.722	-0.057248	0.07317	0.278257	0.032209	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000545926	T;T;T;T	0.27890	1.64;4.96;1.64;1.64	2.24	-2.14	0.07123	Speract/scavenger receptor-related (1);	3.118170	0.01912	N	0.039944	T	0.00012	0.0000	N	0.03084	-0.415	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34601	-0.9822	9	0.13470	T	0.59	.	10.8332	0.46673	0.0:0.8255:0.0:0.1745	rs4072797;rs52837880;rs57331676;rs4072797	588;578	E7EVK4;Q9NR16	.;C163B_HUMAN	N	578;588;578;117	ENSP00000315945:D578N;ENSP00000393474:D588N;ENSP00000379871:D578N;ENSP00000439921:D117N	ENSP00000315945:D578N	D	-	1	0	CD163L1	7440276	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.387000	0.07361	-1.048000	0.03238	-0.360000	0.07572	GAT		0.502	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
RAPGEF3	10411	hgsc.bcm.edu	37	12	48134780	48134780	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr12:48134780T>C	ENST00000449771.2	-	20	2055	c.1967A>G	c.(1966-1968)gAg>gGg	p.E656G	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.E656G|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.E614G|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.E614G|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.E614G|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.E565G			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	656					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GTCCAGCCCCTCAGCAGAGCC	0.647																																																	0			12											24.0	23.0	23.0					12																	48134780		2203	4299	6502	46421047	SO:0001583	missense	10411			AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1967A>G	12.37:g.48134780T>C	ENSP00000395708:p.Glu656Gly		46421047	A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824561	0.50739	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	4.0	4.0	0.46444	Ras guanine nucleotide exchange factor, domain (1);	0.137262	0.47093	D	0.000259	T	0.13970	0.0338	N	0.08118	0	0.42006	D	0.990915	B	0.32573	0.376	B	0.26202	0.067	T	0.12941	-1.0528	10	0.20046	T	0.44	.	12.0726	0.53626	0.0:0.0:0.0:1.0	.	656	O95398	RPGF3_HUMAN	G	614;656;303;614;614;614;656;619;565	ENSP00000384521:E614G;ENSP00000395708:E656G;ENSP00000448619:E614G;ENSP00000171000:E614G;ENSP00000373864:E656G;ENSP00000448480:E565G	ENSP00000171000:E614G	E	-	2	0	RAPGEF3	46421047	0.075000	0.21258	1.000000	0.80357	0.997000	0.91878	1.156000	0.31712	1.609000	0.50190	0.459000	0.35465	GAG		0.647	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105	
FAM186B	84070	hgsc.bcm.edu	37	12	49993936	49993936	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr12:49993936T>C	ENST00000257894.2	-	4	1648	c.1487A>G	c.(1486-1488)gAg>gGg	p.E496G	PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Missense_Mutation_p.E406G	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	496						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CATCTCCTCCTCCTCCAGCCA	0.632																																																	0			12											39.0	43.0	42.0					12																	49993936		2203	4300	6503	48280203	SO:0001583	missense	84070			AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.1487A>G	12.37:g.49993936T>C	ENSP00000257894:p.Glu496Gly		48280203	B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.324940	0.81580	.	.	ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894	T;T;T	0.19105	2.17;2.18;2.41	5.0	3.85	0.44370	.	0.000000	0.41001	D	0.000971	T	0.36963	0.0986	M	0.64997	1.995	0.30719	N	0.748411	D;D	0.71674	0.998;0.998	D;D	0.72338	0.948;0.977	T	0.28004	-1.0057	9	.	.	.	-22.9258	6.8677	0.24102	0.0:0.103:0.0:0.897	.	406;496	B4DZ15;Q8IYM0	.;F186B_HUMAN	G	406;109;496	ENSP00000438569:E406G;ENSP00000436995:E109G;ENSP00000257894:E496G	.	E	-	2	0	FAM186B	48280203	0.125000	0.22332	1.000000	0.80357	0.984000	0.73092	0.589000	0.23939	2.017000	0.59298	0.460000	0.39030	GAG		0.632	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130	
KRT85	3891	hgsc.bcm.edu	37	12	52756131	52756131	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr12:52756131C>A	ENST00000257901.3	-	7	1277	c.1202G>T	c.(1201-1203)tGc>tTc	p.C401F	KRT85_ENST00000544265.1_Missense_Mutation_p.C189F	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	401	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTTGAGCAGGCAGGCCATGTC	0.657																																																	0			12											83.0	76.0	79.0					12																	52756131		2203	4300	6503	51042398	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1202G>T	12.37:g.52756131C>A	ENSP00000257901:p.Cys401Phe		51042398	Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239114	0.58995	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;D	0.88741	-2.42;-2.42	5.16	5.16	0.70880	Filament (1);	0.092459	0.48286	D	0.000181	D	0.91798	0.7405	M	0.87682	2.9	0.36967	D	0.893617	B	0.18310	0.027	B	0.30316	0.114	D	0.91900	0.5531	10	0.66056	D	0.02	.	18.6541	0.91441	0.0:1.0:0.0:0.0	.	401	P78386	KRT85_HUMAN	F	401;189	ENSP00000257901:C401F;ENSP00000440240:C189F	ENSP00000257901:C401F	C	-	2	0	KRT85	51042398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.199000	0.51043	2.420000	0.82092	0.561000	0.74099	TGC		0.657	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283	
SOCS2	8835	hgsc.bcm.edu	37	12	93966719	93966719	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr12:93966719A>G	ENST00000340600.2	+	2	644	c.46A>G	c.(46-48)Acg>Gcg	p.T16A	SOCS2_ENST00000551556.1_Missense_Mutation_p.T16A|SOCS2_ENST00000549206.1_Missense_Mutation_p.T16A|SOCS2_ENST00000536696.2_Missense_Mutation_p.T16A|SOCS2-AS1_ENST00000551626.1_RNA|SOCS2-AS1_ENST00000499137.2_RNA|SOCS2_ENST00000549122.1_Missense_Mutation_p.T16A|SOCS2_ENST00000548537.1_Missense_Mutation_p.T16A|SOCS2-AS1_ENST00000500986.1_RNA	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	16					cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						CGGGGAAGGGACGCGGAGCCA	0.711																																																	0			12											8.0	9.0	9.0					12																	93966719		2161	4241	6402	92490850	SO:0001583	missense	8835			AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19382	protein-coding gene	gene with protein product	"""STAT-induced STAT inhibitor-2"""	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.46A>G	12.37:g.93966719A>G	ENSP00000339428:p.Thr16Ala		92490850	A8K3D1|O14542|O95102|Q9UKS5	Missense_Mutation	SNP	ENST00000340600.2	37	CCDS9047.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.935540	0.73442	.	.	ENSG00000120833	ENST00000340600;ENST00000549206;ENST00000536696;ENST00000548091;ENST00000549122;ENST00000548537;ENST00000549887;ENST00000551556	T;T;T;T;T;T;T	0.32272	1.94;1.94;1.94;1.46;1.94;1.48;1.94	4.44	1.99	0.26369	.	1.108750	0.06722	N	0.775030	T	0.13114	0.0318	N	0.12182	0.205	0.23036	N	0.998394	B	0.32753	0.383	B	0.19946	0.027	T	0.20075	-1.0286	10	0.09843	T	0.71	-5.8584	5.283	0.15686	0.726:0.1788:0.0953:0.0	.	16	O14508	SOCS2_HUMAN	A	16	ENSP00000339428:T16A;ENSP00000448815:T16A;ENSP00000442898:T16A;ENSP00000447902:T16A;ENSP00000447161:T16A;ENSP00000448611:T16A;ENSP00000449227:T16A	ENSP00000339428:T16A	T	+	1	0	SOCS2	92490850	1.000000	0.71417	0.912000	0.35992	0.881000	0.50899	0.690000	0.25451	0.228000	0.21019	0.454000	0.30748	ACG		0.711	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407731.2		
TUBGCP5	114791	hgsc.bcm.edu	37	15	22864299	22864299	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr15:22864299C>A	ENST00000283645.4	+	16	2387	c.2257C>A	c.(2257-2259)Cag>Aag	p.Q753K	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.Q753K	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	753					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GGAAACATGGCAGAATGTGTC	0.363																																																	0			15											97.0	95.0	96.0					15																	22864299		2203	4300	6503	20415740	SO:0001583	missense	114791			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2257C>A	15.37:g.22864299C>A	ENSP00000283645:p.Gln753Lys		20415740	E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	C	6.492	0.459005	0.12342	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.07327	3.2;3.2	5.0	3.07	0.35406	.	0.142426	0.48767	D	0.000180	T	0.06005	0.0156	L	0.38531	1.155	0.54753	D	0.999989	B;B	0.31026	0.304;0.304	B;B	0.33196	0.111;0.159	T	0.17018	-1.0383	10	0.06099	T	0.92	-4.7666	8.393	0.32540	0.1539:0.7677:0.0:0.0784	.	753;753	Q96RT8;E9PB12	GCP5_HUMAN;.	K	753	ENSP00000283645:Q753K;ENSP00000409217:Q753K	ENSP00000283645:Q753K	Q	+	1	0	TUBGCP5	20415740	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.159000	0.77483	0.776000	0.33473	0.591000	0.81541	CAG		0.363	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903	
RYR3	6263	hgsc.bcm.edu	37	15	34130562	34130562	+	Silent	SNP	G	G	A	rs374756167		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr15:34130562G>A	ENST00000389232.4	+	89	12451	c.12381G>A	c.(12379-12381)gcG>gcA	p.A4127A	RYR3_ENST00000415757.3_Silent_p.A4122A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4127					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAGAAATTGCGGGTGAAGAGG	0.483																																																	0			15						G		0,3776		0,0,1888	145.0	144.0	144.0		12381	2.9	0.1	15		144	2,8190		0,2,4094	no	coding-synonymous	RYR3	NM_001036.3		0,2,5982	AA,AG,GG		0.0244,0.0,0.0167		4127/4871	34130562	2,11966	1888	4096	5984	31917854	SO:0001819	synonymous_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12381G>A	15.37:g.34130562G>A			31917854	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																				0.483	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
MFAP1	4236	hgsc.bcm.edu	37	15	44097662	44097662	+	Splice_Site	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr15:44097662T>C	ENST00000267812.3	-	8	1281	c.1049A>G	c.(1048-1050)gAt>gGt	p.D350G		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	350					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TTCATCCTCATCCTGTATAAA	0.353																																																	0			15											97.0	95.0	96.0					15																	44097662		2198	4298	6496	41884954	SO:0001630	splice_region_variant	4236				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.1048-1A>G	15.37:g.44097662T>C			41884954	Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.364677	0.82463	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.2	5.2	0.72013	.	0.047906	0.85682	D	0.000000	D	0.84028	0.5382	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86812	0.1999	9	0.59425	D	0.04	-20.9749	14.8935	0.70627	0.0:0.0:0.0:1.0	.	350	P55081	MFAP1_HUMAN	G	350	.	ENSP00000267812:D350G	D	-	2	0	MFAP1	41884954	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.522000	0.81844	2.185000	0.69588	0.454000	0.30748	GAT		0.353	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926	Missense_Mutation
USP8	9101	hgsc.bcm.edu	37	15	50784958	50784958	+	Silent	SNP	C	C	A	rs138490617	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr15:50784958C>A	ENST00000396444.3	+	15	2633	c.2295C>A	c.(2293-2295)ctC>ctA	p.L765L	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Silent_p.L659L|USP8_ENST00000433963.1_Silent_p.L765L|USP8_ENST00000307179.4_Silent_p.L765L	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	765					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTCGGAACCTCAATCCTGTTT	0.408													C|||	56	0.0111821	0.0189	0.0144	5008	,	,		22644	0.004		0.002	False		,,,				2504	0.0153																0			15											136.0	121.0	126.0					15																	50784958		2196	4294	6490	48572250	SO:0001819	synonymous_variant	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2295C>A	15.37:g.50784958C>A			48572250	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	CCDS10137.1																																																																																				0.408	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154	
CSNK1G1	53944	hgsc.bcm.edu	37	15	64506102	64506102	+	Silent	SNP	C	C	T	rs139687499		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr15:64506102C>T	ENST00000303052.7	-	6	1089	c.666G>A	c.(664-666)acG>acA	p.T222T	CSNK1G1_ENST00000303032.6_Silent_p.T222T|CTD-2116N17.1_ENST00000606793.1_Silent_p.T204T|CSNK1G1_ENST00000607537.1_Silent_p.T222T	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TGCCAAGATGCGTGTTGATAG	0.378																																																	0			15						C		1,4405	2.1+/-5.4	0,1,2202	228.0	180.0	196.0		666	-0.5	1.0	15	dbSNP_134	196	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CSNK1G1	NM_022048.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		222/423	64506102	2,13004	2203	4300	6503	62293155	SO:0001819	synonymous_variant	53944			AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.666G>A	15.37:g.64506102C>T			62293155	Q5JPH1|Q96AE9|Q9HCP1	Silent	SNP	ENST00000303052.7	37	CCDS10192.2																																																																																				0.378	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1	NM_022048	
STARD5	80765	hgsc.bcm.edu	37	15	81611771	81611771	+	Silent	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr15:81611771A>G	ENST00000302824.6	-	4	334	c.309T>C	c.(307-309)acT>acC	p.T103T	STARD5_ENST00000559913.1_5'UTR	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	103	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						CAGCGGAGGGAGTGGAGGTTC	0.517																																																	0			15											269.0	263.0	265.0					15																	81611771		2203	4300	6503	79398826	SO:0001819	synonymous_variant	80765			AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"""StAR-related lipid transfer (START) domain containing"""	18065	protein-coding gene	gene with protein product		607050	"""START domain containing 5"""			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.309T>C	15.37:g.81611771A>G			79398826	P59094	Silent	SNP	ENST00000302824.6	37	CCDS10318.1																																																																																				0.517	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303950.2		
KCND1	3750	hgsc.bcm.edu	37	X	48819901	48819901	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chrX:48819901T>C	ENST00000218176.3	-	6	3182	c.1885A>G	c.(1885-1887)Aac>Gac	p.N629D	KCND1_ENST00000376477.1_Missense_Mutation_p.N252D	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	629					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	AGGCTGGAGTTCCTGAGGGTG	0.612																																																	0			X											29.0	26.0	27.0					X																	48819901		2203	4300	6503	48704845	SO:0001583	missense	3750			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1885A>G	X.37:g.48819901T>C	ENSP00000218176:p.Asn629Asp		48704845	A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	t	14.25	2.480597	0.44044	.	.	ENSG00000102057	ENST00000376477;ENST00000218176	D;D	0.96685	-3.72;-4.09	5.32	5.32	0.75619	.	0.071093	0.53938	D	0.000045	D	0.93370	0.7886	L	0.41236	1.265	0.44067	D	0.996811	B	0.25105	0.118	B	0.19666	0.026	D	0.91406	0.5147	10	0.66056	D	0.02	.	13.2815	0.60216	0.0:0.0:0.0:1.0	.	629	Q9NSA2	KCND1_HUMAN	D	252;629	ENSP00000365660:N252D;ENSP00000218176:N629D	ENSP00000218176:N629D	N	-	1	0	KCND1	48704845	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	2.777000	0.47717	1.778000	0.52293	0.352000	0.21897	AAC		0.612	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979	
ZC3H12B	340554	hgsc.bcm.edu	37	X	64722697	64722697	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chrX:64722697T>C	ENST00000338957.4	+	5	2186	c.2119T>C	c.(2119-2121)Tcc>Ccc	p.S707P	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.S696P	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	707							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATTTCCGACTCCCGCCTCTA	0.617																																																	0			X											41.0	44.0	43.0					X																	64722697		2119	4220	6339	64639422	SO:0001583	missense	340554			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.2119T>C	X.37:g.64722697T>C	ENSP00000340839:p.Ser707Pro		64639422	B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735311	0.69189	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.39229	1.09;1.09	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.62792	0.2457	M	0.72894	2.215	0.58432	D	0.999991	D	0.76494	0.999	D	0.80764	0.994	T	0.63915	-0.6529	10	0.45353	T	0.12	-19.4828	13.7773	0.63062	0.0:0.0:0.0:1.0	.	696	Q5HYM0	ZC12B_HUMAN	P	707;696;643	ENSP00000340839:S707P;ENSP00000408077:S696P	ENSP00000218172:S643P	S	+	1	0	ZC3H12B	64639422	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.837000	0.69381	1.938000	0.56188	0.412000	0.27726	TCC		0.617	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334	
ACRC	93953	hgsc.bcm.edu	37	X	70824010	70824010	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	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		
KIT	3815	hgsc.bcm.edu	37	4	55592159	55592159	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr4:55592159A>G	ENST00000288135.5	+	9	1580	c.1483A>G	c.(1483-1485)Aac>Gac	p.N495D		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	495	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E490_F504>DHIVVSLTF(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAAGGCTTACAACGATGTGGG	0.388		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	1	Complex - deletion inframe(1)	soft_tissue(1)	4											136.0	122.0	127.0					4																	55592159		2203	4300	6503	55286916	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1483A>G	4.37:g.55592159A>G	ENSP00000288135:p.Asn495Asp		55286916	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.796063	0.90453	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.08102	3.13;3.13	6.02	6.02	0.97574	Immunoglobulin-like fold (1);	0.080350	0.52532	D	0.000064	T	0.32496	0.0831	M	0.86028	2.79	0.48135	D	0.999595	P;P	0.40144	0.666;0.704	P;P	0.58928	0.695;0.848	T	0.01352	-1.1377	10	0.52906	T	0.07	.	15.1157	0.72401	1.0:0.0:0.0:0.0	.	495;495	P10721-2;P10721	.;KIT_HUMAN	D	495	ENSP00000288135:N495D;ENSP00000390987:N495D	ENSP00000288135:N495D	N	+	1	0	KIT	55286916	1.000000	0.71417	0.984000	0.44739	0.926000	0.56050	6.446000	0.73460	2.311000	0.77944	0.533000	0.62120	AAC		0.388	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
GUCY1A3	2982	hgsc.bcm.edu	37	4	156634718	156634718	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr4:156634718G>A	ENST00000296518.7	+	7	1764	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.E519K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.E519K|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.E261K|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.E519K|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.E519K|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.E519K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	519	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GCAGTGTGGAGAGCTGGATGT	0.507																																																	0			4											43.0	38.0	40.0					4																	156634718		2203	4300	6503	156854168	SO:0001583	missense	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1555G>A	4.37:g.156634718G>A	ENSP00000296518:p.Glu519Lys		156854168	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353468	0.61293	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	T;T;T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42	5.78	4.94	0.65067	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.185786	0.37393	N	0.002105	T	0.70718	0.3256	N	0.25144	0.715	0.58432	D	0.999999	P;P	0.35328	0.495;0.495	B;B	0.40038	0.317;0.317	T	0.66771	-0.5839	10	0.06236	T	0.91	.	16.6755	0.85278	0.0:0.1373:0.8627:0.0	.	519;519	B3KU69;Q02108	.;GCYA3_HUMAN	K	519;519;519;519;261;519;519	ENSP00000424361:E519K;ENSP00000421493:E519K;ENSP00000426968:E519K;ENSP00000412201:E519K;ENSP00000377418:E261K;ENSP00000296518:E519K;ENSP00000426040:E519K	ENSP00000296518:E519K	E	+	1	0	GUCY1A3	156854168	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	5.570000	0.67398	1.420000	0.47138	0.655000	0.94253	GAG		0.507	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
TUBB7P	56604	hgsc.bcm.edu	37	4	190906006	190906006	+	IGR	SNP	C	C	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr4:190906006C>T								FRG1 (21647 upstream) : RNA5SP174 (30286 downstream)																							GCCCGGTCTGCGTGAGCACAA	0.701																																																	0			4											11.0	13.0	12.0					4																	190906006		2137	4191	6328	191143000	SO:0001628	intergenic_variant	56604																															4.37:g.190906006C>T			191143000		Missense_Mutation	SNP		37																																																																																				0	0.701								
NBAS	51594	hgsc.bcm.edu	37	2	15555785	15555785	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr2:15555785C>T	ENST00000281513.5	-	25	2847	c.2822G>A	c.(2821-2823)cGt>cAt	p.R941H	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	941					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTTCTCACAACGATGAAGAAA	0.378																																																	0			2											94.0	95.0	94.0					2																	15555785		2203	4300	6503	15473236	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2822G>A	2.37:g.15555785C>T	ENSP00000281513:p.Arg941His		15473236	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	35	5.502774	0.96371	.	.	ENSG00000151779	ENST00000281513	T	0.18016	2.24	6.16	6.16	0.99307	Secretory pathway Sec39 (1);	0.000000	0.85682	D	0.000000	T	0.45836	0.1362	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.25012	-1.0144	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	941	A2RRP1	NBAS_HUMAN	H	941	ENSP00000281513:R941H	ENSP00000281513:R941H	R	-	2	0	NBAS	15473236	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	7.323000	0.79105	2.937000	0.99478	0.650000	0.86243	CGT		0.378	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
MSH6	2956	hgsc.bcm.edu	37	2	48027959	48027959	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr2:48027959A>G	ENST00000234420.5	+	4	2989	c.2837A>G	c.(2836-2838)gAa>gGa	p.E946G	MSH6_ENST00000540021.1_Missense_Mutation_p.E816G|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.E644G	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	946					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)			GACATAAGAGAAAATGAACAG	0.458			"""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											45.0	45.0	45.0					2																	48027959		2203	4300	6503	47881463	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.2837A>G	2.37:g.48027959A>G	ENSP00000234420:p.Glu946Gly		47881463	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	A	9.945	1.218515	0.22373	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.90788	-2.73;-2.73;-2.73	5.61	4.39	0.52855	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.538247	0.21758	N	0.069578	D	0.87317	0.6147	L	0.42632	1.34	0.80722	D	1	B;B;B	0.20459	0.02;0.009;0.045	B;B;B	0.28385	0.033;0.02;0.089	D	0.85095	0.0954	10	0.54805	T	0.06	-20.2924	12.1387	0.53986	0.7321:0.2679:0.0:0.0	.	816;946;946	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	G	946;944;816;644	ENSP00000234420:E946G;ENSP00000446475:E816G;ENSP00000438580:E644G	ENSP00000234420:E946G	E	+	2	0	MSH6	47881463	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	1.086000	0.30853	2.128000	0.65567	0.460000	0.39030	GAA		0.458	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
POTEF	728378	hgsc.bcm.edu	37	2	130869608	130869608	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr2:130869608T>C	ENST00000409914.2	-	6	1276	c.877A>G	c.(877-879)Aag>Gag	p.K293E	POTEF_ENST00000357462.5_Missense_Mutation_p.K293E|AC018804.3_ENST00000433507.1_RNA|POTEF_ENST00000361163.4_Missense_Mutation_p.K303E|POTEF_ENST00000360967.5_Missense_Mutation_p.K293E|RNU6-1049P_ENST00000516414.1_RNA	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	293					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCTTTTTTCTTAATTAAAAAT	0.338																																																	0			2											40.0	50.0	47.0					2																	130869608		1436	3451	4887	130586078	SO:0001583	missense	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.877A>G	2.37:g.130869608T>C	ENSP00000386786:p.Lys293Glu		130586078	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	9.633	1.136824	0.21123	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.61980	0.06;0.06;0.06;0.12	1.16	-0.0886	0.13672	Ankyrin repeat-containing domain (4);	0.193103	0.24547	U	0.037595	T	0.40222	0.1108	N	0.21282	0.65	0.09310	N	1	P	0.49961	0.93	B	0.41917	0.37	T	0.40001	-0.9586	10	0.87932	D	0	.	3.0851	0.06275	0.0:0.2815:0.0:0.7185	.	293	A5A3E0	POTEF_HUMAN	E	293;293;293;303	ENSP00000350052:K293E;ENSP00000386786:K293E;ENSP00000354232:K293E;ENSP00000355012:K303E	ENSP00000350052:K293E	K	-	1	0	POTEF	130586078	0.005000	0.15991	0.001000	0.08648	0.032000	0.12392	0.876000	0.28092	-0.027000	0.13873	0.136000	0.15936	AAG		0.338	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771	
FAP	2191	hgsc.bcm.edu	37	2	163055301	163055301	+	Silent	SNP	G	G	A	rs199889478		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr2:163055301G>A	ENST00000188790.4	-	16	1575	c.1368C>T	c.(1366-1368)agC>agT	p.S456S	FAP_ENST00000443424.1_Silent_p.S431S	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TGGCGTAGTCGCTGAAACTTG	0.468																																																	0			2											248.0	203.0	219.0					2																	163055301		2203	4300	6503	162763547	SO:0001819	synonymous_variant	11146			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1368C>T	2.37:g.163055301G>A			162763547		Silent	SNP	ENST00000188790.4	37	CCDS33311.1																																																																																				0.468	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		
XIRP2	129446	hgsc.bcm.edu	37	2	168100233	168100233	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr2:168100233G>T	ENST00000409195.1	+	9	2420	c.2331G>T	c.(2329-2331)caG>caT	p.Q777H	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q777H|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q555H|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	602					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGAAACACAGCCGTTGGACA	0.413																																																	0			2											71.0	66.0	68.0					2																	168100233		1866	4097	5963	167808479	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2331G>T	2.37:g.168100233G>T	ENSP00000386840:p.Gln777His		167808479	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092898	0.36952	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.43688	0.94;0.94;0.94	5.92	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.71036	2.16	0.53688	D	0.999973	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.67417	-0.5676	10	0.72032	D	0.01	-9.7912	13.624	0.62153	0.1463:0.0:0.8537:0.0	.	602;602;555	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	777;777;555	ENSP00000386840:Q777H;ENSP00000295237:Q777H;ENSP00000387255:Q555H	ENSP00000295237:Q777H	Q	+	3	2	XIRP2	167808479	0.993000	0.37304	1.000000	0.80357	0.860000	0.49131	0.288000	0.18939	1.503000	0.48686	0.650000	0.86243	CAG		0.413	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
TTN	7273	hgsc.bcm.edu	37	2	179437809	179437809	+	Silent	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr2:179437809A>G	ENST00000591111.1	-	276	68351	c.68127T>C	c.(68125-68127)gaT>gaC	p.D22709D	TTN_ENST00000589042.1_Silent_p.D24350D|TTN_ENST00000342992.6_Silent_p.D21782D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.D15410D|TTN_ENST00000460472.2_Silent_p.D15285D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.D15477D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22709	Fibronectin type-III 65. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D15285D(1)		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)			CTGAACCACCATCATAGATAG	0.463																																																	1	Substitution - coding silent(1)	lung(1)	2											84.0	81.0	82.0					2																	179437809		1947	4146	6093	179146055	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.68127T>C	2.37:g.179437809A>G			179146055	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ALS2	57679	hgsc.bcm.edu	37	2	202590171	202590171	+	Silent	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr2:202590171T>C	ENST00000264276.6	-	20	3627	c.3255A>G	c.(3253-3255)ggA>ggG	p.G1085G	ALS2_ENST00000457679.2_Silent_p.G397G	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1085					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTCTGTATTCTCCATACCTGC	0.353																																																	0			2											176.0	176.0	176.0					2																	202590171		1858	4090	5948	202298416	SO:0001819	synonymous_variant	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3255A>G	2.37:g.202590171T>C			202298416	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	CCDS42800.1																																																																																				0.353	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919	
PNKD	25953	hgsc.bcm.edu	37	2	219204843	219204843	+	Silent	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr2:219204843T>C	ENST00000273077.4	+	4	495	c.444T>C	c.(442-444)ccT>ccC	p.P148P	PNKD_ENST00000436005.2_Silent_p.P88P|PNKD_ENST00000258362.3_Silent_p.P124P|AC021016.8_ENST00000411433.1_RNA	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	148					glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTGGACCCTTCAGACCCTC	0.632																																																	0			2											69.0	61.0	64.0					2																	219204843		2203	4300	6503	218913087	SO:0001819	synonymous_variant	25953				CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"""myofibrillogenesis regulator 1"""	609023	"""paroxysmal nonkinesiogenic dyskinesia"""			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.444T>C	2.37:g.219204843T>C			218913087	A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Silent	SNP	ENST00000273077.4	37	CCDS2411.1																																																																																				0.632	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2		
STK36	27148	hgsc.bcm.edu	37	2	219563535	219563535	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr2:219563535A>G	ENST00000295709.3	+	26	3547	c.3268A>G	c.(3268-3270)Agg>Ggg	p.R1090G	STK36_ENST00000392105.3_Missense_Mutation_p.R1069G|STK36_ENST00000392106.2_Missense_Mutation_p.R1069G|STK36_ENST00000440309.1_Missense_Mutation_p.R1090G	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCATACTGCCAGGGTCCTGTC	0.587																																																	0			2											106.0	94.0	98.0					2																	219563535		2203	4300	6503	219271779	SO:0001583	missense	27148			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.3268A>G	2.37:g.219563535A>G	ENSP00000295709:p.Arg1090Gly		219271779		Missense_Mutation	SNP	ENST00000295709.3	37	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.225133	0.39300	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	D;D;D;D	0.82803	-1.65;-1.64;-1.65;-1.65	6.06	4.08	0.47627	Armadillo-type fold (1);	0.000000	0.40728	N	0.001025	D	0.86020	0.5833	L	0.29908	0.895	0.46654	D	0.999146	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.996;0.994	D	0.88188	0.2875	10	0.87932	D	0	-26.3485	15.5365	0.76007	0.2656:0.7344:0.0:0.0	.	1069;1069;1090	A8MU99;Q9NRP7-2;Q9NRP7	.;.;STK36_HUMAN	G	1090;1069;1069;1090	ENSP00000295709:R1090G;ENSP00000375955:R1069G;ENSP00000375954:R1069G;ENSP00000394095:R1090G	ENSP00000295709:R1090G	R	+	1	2	STK36	219271779	0.981000	0.34729	0.931000	0.37212	0.018000	0.09664	1.372000	0.34261	1.565000	0.49641	-0.168000	0.13345	AGG		0.587	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2		
KLHL30	377007	hgsc.bcm.edu	37	2	239049819	239049819	+	Missense_Mutation	SNP	G	G	A	rs375543545		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr2:239049819G>A	ENST00000409223.1	+	2	531	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	KLHL30_ENST00000305959.4_Missense_Mutation_p.G124R			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	142										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTGTGAGTTCGGGGAGCAGCA	0.657																																																	0			2						G	ARG/GLY	0,4244		0,0,2122	17.0	22.0	20.0		424	5.8	1.0	2		20	1,8475		0,1,4237	no	missense	KLHL30	NM_198582.3	125	0,1,6359	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging	142/579	239049819	1,12719	2122	4238	6360	238714558	SO:0001583	missense	377007				CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.424G>A	2.37:g.239049819G>A	ENSP00000386389:p.Gly142Arg		238714558	Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896027	0.91962	0.0	1.18E-4	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.69435	-0.4;-0.4	5.82	5.82	0.92795	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.83055	0.5171	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84270	0.0488	10	0.87932	D	0	.	18.8769	0.92341	0.0:0.0:1.0:0.0	.	142	Q0D2K2	KLH30_HUMAN	R	142;124	ENSP00000386389:G142R;ENSP00000302386:G124R	ENSP00000302386:G124R	G	+	1	0	KLHL30	238714558	1.000000	0.71417	0.956000	0.39512	0.900000	0.52787	9.649000	0.98487	2.757000	0.94681	0.655000	0.94253	GGG		0.657	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582	
PER2	8864	hgsc.bcm.edu	37	2	239170947	239170947	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr2:239170947T>C	ENST00000254657.3	-	11	1471	c.1192A>G	c.(1192-1194)Att>Gtt	p.I398V	PER2_ENST00000440245.1_Missense_Mutation_p.I398V|PER2_ENST00000355768.2_Missense_Mutation_p.H362R|PER2_ENST00000254658.3_Missense_Mutation_p.H362R	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	398	PAC.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CGAAACCGAATGGGAGAATAG	0.527																																																	0			2											101.0	95.0	97.0					2																	239170947		2203	4300	6503	238835686	SO:0001583	missense	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.1192A>G	2.37:g.239170947T>C	ENSP00000254657:p.Ile398Val		238835686	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	CCDS2528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.34|11.34	1.610646|1.610646	0.28712|0.28712	.|.	.|.	ENSG00000132326|ENSG00000132326	ENST00000254658;ENST00000355768|ENST00000254657;ENST00000440245	T;T|T;T	0.45276|0.15718	0.9;0.9|2.4;2.4	4.42|4.42	-1.58|-1.58	0.08479|0.08479	.|PAS fold-3 (1);	.|0.172839	.|0.50627	.|D	.|0.000107	T|T	0.14787|0.14787	0.0357|0.0357	L|L	0.37697|0.37697	1.125|1.125	0.21386|0.21386	N|N	0.99971|0.99971	B|B;B;B	0.29037|0.25743	0.231|0.008;0.022;0.133	B|B;B;B	0.29942|0.34824	0.109|0.023;0.018;0.19	T|T	0.27536|0.27536	-1.0071|-1.0071	9|10	0.87932|0.33141	D|T	0|0.24	-4.1172|-4.1172	13.1115|13.1115	0.59277|0.59277	0.0:0.0:0.61:0.39|0.0:0.0:0.61:0.39	.|.	362|398;398;398	O15055-2|F5GYD5;B4DH14;O15055	.|.;.;PER2_HUMAN	R|V	362|398	ENSP00000254658:H362R;ENSP00000348013:H362R|ENSP00000254657:I398V;ENSP00000397516:I398V	ENSP00000254658:H362R|ENSP00000254657:I398V	H|I	-|-	2|1	0|0	PER2|PER2	238835686|238835686	0.996000|0.996000	0.38824|0.38824	0.057000|0.057000	0.19452|0.19452	0.041000|0.041000	0.13682|0.13682	2.021000|2.021000	0.41020|0.41020	-0.473000|-0.473000	0.06871|0.06871	0.454000|0.454000	0.30748|0.30748	CAT|ATT		0.527	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817	
GLDC	2731	hgsc.bcm.edu	37	9	6565391	6565391	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr9:6565391C>T	ENST00000321612.6	-	16	2039	c.1889G>A	c.(1888-1890)cGa>cAa	p.R630Q	snoU13_ENST00000516301.1_RNA|GLDC_ENST00000460457.1_5'UTR	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	630					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TAAGTAGGCTCGGATAGTGGC	0.537																																																	0			9											162.0	137.0	145.0					9																	6565391		2203	4300	6503	6555391	SO:0001583	missense	2731			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1889G>A	9.37:g.6565391C>T	ENSP00000370737:p.Arg630Gln		6555391	Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424404	0.62733	.	.	ENSG00000178445	ENST00000321612	D	0.98455	-4.94	5.7	4.7	0.59300	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aromatic amino acid beta-eliminating lyase/threonine aldolase (1);	0.055776	0.64402	D	0.000001	D	0.95294	0.8473	L	0.47190	1.495	0.46874	D	0.999237	B	0.19200	0.034	B	0.24006	0.05	D	0.90128	0.4204	10	0.40728	T	0.16	-9.5588	3.7407	0.08528	0.0:0.664:0.0:0.336	.	630	P23378	GCSP_HUMAN	Q	630	ENSP00000370737:R630Q	ENSP00000370737:R630Q	R	-	2	0	GLDC	6555391	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.173000	0.58249	2.703000	0.92315	0.655000	0.94253	CGA		0.537	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170	
TRPM3	80036	hgsc.bcm.edu	37	9	73150980	73150980	+	Silent	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr9:73150980A>G	ENST00000377110.3	-	25	5256	c.5013T>C	c.(5011-5013)aaT>aaC	p.N1671N	TRPM3_ENST00000396292.4_Silent_p.N1543N|TRPM3_ENST00000396280.5_Silent_p.N1520N|TRPM3_ENST00000408909.2_Silent_p.N1530N|TRPM3_ENST00000396285.1_Silent_p.N1530N|TRPM3_ENST00000423814.3_Silent_p.N1698N|TRPM3_ENST00000360823.2_Silent_p.N1533N|TRPM3_ENST00000357533.2_Silent_p.N1675N|TRPM3_ENST00000377105.1_Silent_p.N1530N|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377106.1_Silent_p.N1543N|TRPM3_ENST00000358082.3_Silent_p.N1533N			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1696					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCTGGAAGGGATTTCGCAGGC	0.562																																																	0			9											165.0	160.0	162.0					9																	73150980		2203	4300	6503	72340800	SO:0001819	synonymous_variant	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.5013T>C	9.37:g.73150980A>G			72340800	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377110.3	37	CCDS43835.1	.	.	.	.	.	.	.	.	.	.	A	4.330	0.060675	0.08339	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.77	-1.27	0.09347	.	.	.	.	.	T	0.65984	0.2744	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62258	-0.6892	4	.	.	.	-11.9705	14.5537	0.68086	0.2933:0.0:0.7067:0.0	.	.	.	.	P	1520	.	.	S	-	1	0	TRPM3	72340800	0.998000	0.40836	0.970000	0.41538	0.980000	0.70556	0.553000	0.23391	-0.594000	0.05836	0.533000	0.62120	TCC		0.562	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945	
GNA14	9630	hgsc.bcm.edu	37	9	80144055	80144055	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr9:80144055A>G	ENST00000341700.6	-	2	752	c.239T>C	c.(238-240)tTc>tCc	p.F80S	RP11-466A17.1_ENST00000439145.1_RNA	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	80					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						CATGGCGGTGAATATGTTTTG	0.463																																																	0			9											381.0	323.0	343.0					9																	80144055		2203	4300	6503	79333875	SO:0001583	missense	9630			AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.239T>C	9.37:g.80144055A>G	ENSP00000365807:p.Phe80Ser		79333875	B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947291	0.73672	.	.	ENSG00000156049	ENST00000341700	D	0.88509	-2.39	5.92	5.92	0.95590	G protein alpha subunit, helical insertion (2);	0.155416	0.64402	D	0.000019	D	0.94215	0.8143	M	0.86805	2.84	0.48135	D	0.999598	D	0.62365	0.991	D	0.63877	0.919	D	0.94839	0.8003	10	0.87932	D	0	.	12.0916	0.53730	0.8714:0.0:0.0:0.1286	.	80	O95837	GNA14_HUMAN	S	80	ENSP00000365807:F80S	ENSP00000365807:F80S	F	-	2	0	GNA14	79333875	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.226000	0.58606	2.282000	0.76494	0.529000	0.55759	TTC		0.463	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1		
SECISBP2	79048	hgsc.bcm.edu	37	9	91964814	91964814	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr9:91964814T>C	ENST00000375807.3	+	13	1933	c.1862T>C	c.(1861-1863)tTc>tCc	p.F621S	SECISBP2_ENST00000339901.4_Missense_Mutation_p.F548S|SECISBP2_ENST00000534113.2_Missense_Mutation_p.F553S	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	621					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CACACCACCTTCCCTAAGATC	0.562																																																	0			9											124.0	103.0	110.0					9																	91964814		2203	4300	6503	91154634	SO:0001583	missense	79048			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1862T>C	9.37:g.91964814T>C	ENSP00000364965:p.Phe621Ser		91154634	F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.910998	0.33721	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.72615	-0.66;-0.67;-0.66	4.73	1.28	0.21552	.	0.848684	0.10780	N	0.634999	T	0.55593	0.1930	L	0.36672	1.1	0.09310	N	0.999995	B;B;B	0.21225	0.031;0.053;0.031	B;B;B	0.18561	0.006;0.022;0.006	T	0.41016	-0.9532	10	0.33940	T	0.23	-0.2525	4.8043	0.13312	0.0:0.1882:0.1981:0.6137	.	628;548;621	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	S	621;627;548;553	ENSP00000364965:F621S;ENSP00000364959:F548S;ENSP00000436650:F553S	ENSP00000364959:F548S	F	+	2	0	SECISBP2	91154634	0.639000	0.27234	0.720000	0.30636	0.884000	0.51177	0.965000	0.29319	0.072000	0.16694	0.533000	0.62120	TTC		0.562	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077	
ROR2	4920	hgsc.bcm.edu	37	9	94486946	94486946	+	Silent	SNP	G	G	A	rs138080280	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr9:94486946G>A	ENST00000375708.3	-	9	2028	c.1830C>T	c.(1828-1830)caC>caT	p.H610H	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.H470H	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	610	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGTGAACCACGTGGTGGCTGG	0.612																																																	0			9						G		0,4406		0,0,2203	115.0	96.0	102.0		1830	-0.4	1.0	9	dbSNP_134	102	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ROR2	NM_004560.3		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		610/944	94486946	5,13001	2203	4300	6503	93526767	SO:0001819	synonymous_variant	6095			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1830C>T	9.37:g.94486946G>A			93526767	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	CCDS6691.1																																																																																				0.612	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1		
RGS3	5998	hgsc.bcm.edu	37	9	116246436	116246436	+	Missense_Mutation	SNP	G	G	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr9:116246436G>C	ENST00000374140.2	+	7	753	c.544G>C	c.(544-546)Gat>Cat	p.D182H	RGS3_ENST00000350696.5_Missense_Mutation_p.D182H|RGS3_ENST00000317613.6_Missense_Mutation_p.D70H	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	182	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GATCCCTGAAGATAGTAGACT	0.512																																																	0			9											73.0	72.0	72.0					9																	116246436		2203	4300	6503	115286257	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.544G>C	9.37:g.116246436G>C	ENSP00000363255:p.Asp182His		115286257	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130123	0.77549	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613	T;T;T	0.77358	-1.09;-1.09;0.9	4.89	2.9	0.33743	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.816725	0.10606	N	0.655051	T	0.77903	0.4200	L	0.40543	1.245	0.34403	D	0.695498	D;P;P	0.55172	0.97;0.851;0.927	P;P;P	0.57679	0.825;0.529;0.762	T	0.78362	-0.2233	10	0.56958	D	0.05	.	5.8874	0.18888	0.2378:0.0:0.7622:0.0	.	72;70;182	B3KWG8;P49796-5;P49796	.;.;RGS3_HUMAN	H	182;182;70	ENSP00000363255:D182H;ENSP00000259406:D182H;ENSP00000312844:D70H	ENSP00000312844:D70H	D	+	1	0	RGS3	115286257	0.810000	0.29049	0.722000	0.30670	0.901000	0.52897	0.482000	0.22276	1.286000	0.44565	0.655000	0.94253	GAT		0.512	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	
TNFSF8	944	hgsc.bcm.edu	37	9	117666530	117666530	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr9:117666530C>T	ENST00000223795.2	-	4	499	c.386G>A	c.(385-387)gGg>gAg	p.G129E	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	129					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						CACCAGATTCCCATCCTGATA	0.403																																																	0			9											149.0	144.0	146.0					9																	117666530		2203	4300	6503	116706351	SO:0001583	missense	944			L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.386G>A	9.37:g.117666530C>T	ENSP00000223795:p.Gly129Glu		116706351	O43404	Missense_Mutation	SNP	ENST00000223795.2	37	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.388715	0.25118	.	.	ENSG00000106952	ENST00000223795	T	0.51325	0.71	5.63	3.81	0.43845	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.176137	0.40469	N	0.001088	T	0.27349	0.0671	N	0.12746	0.255	0.37923	D	0.931759	B	0.33739	0.422	B	0.36719	0.231	T	0.09818	-1.0657	10	0.10377	T	0.69	-7.5366	9.8813	0.41236	0.0:0.8385:0.0:0.1615	.	129	P32971	TNFL8_HUMAN	E	129	ENSP00000223795:G129E	ENSP00000223795:G129E	G	-	2	0	TNFSF8	116706351	0.992000	0.36948	0.930000	0.37139	0.992000	0.81027	1.723000	0.38053	0.748000	0.32831	0.655000	0.94253	GGG		0.403	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1		
PABPC3	5042	hgsc.bcm.edu	37	13	25672215	25672215	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr13:25672215G>A	ENST00000281589.3	+	1	1916	c.1879G>A	c.(1879-1881)Ggt>Agt	p.G627S		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	627					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGTGCTACCGGTGTTCCAAC	0.408																																																	0			13											93.0	100.0	98.0					13																	25672215		2203	4298	6501	24570215	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1879G>A	13.37:g.25672215G>A	ENSP00000281589:p.Gly627Ser		24570215	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101887	0.37048	.	.	ENSG00000151846	ENST00000281589	T	0.38560	1.13	0.875	0.875	0.19130	Polyadenylate-binding protein/Hyperplastic disc protein (1);	.	.	.	.	T	0.29028	0.0721	L	0.31926	0.97	0.46678	D	0.999158	B	0.12013	0.005	B	0.18263	0.021	T	0.13656	-1.0501	9	0.51188	T	0.08	.	7.5489	0.27783	0.0:0.0:1.0:0.0	.	627	Q9H361	PABP3_HUMAN	S	627	ENSP00000281589:G627S	ENSP00000281589:G627S	G	+	1	0	PABPC3	24570215	0.719000	0.27986	0.806000	0.32338	0.149000	0.21700	1.439000	0.35013	0.759000	0.33084	0.313000	0.20887	GGT		0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
KLF12	11278	hgsc.bcm.edu	37	13	74420217	74420217	+	Silent	SNP	C	C	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr13:74420217C>T	ENST00000377669.2	-	3	443	c.417G>A	c.(415-417)tcG>tcA	p.S139S	KLF12_ENST00000377666.4_Silent_p.S139S|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	139					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		ATACTGTTGACGAAGATGACG	0.502																																																	0			13											100.0	83.0	89.0					13																	74420217		2203	4300	6503	73318218	SO:0001819	synonymous_variant	11278			AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.417G>A	13.37:g.74420217C>T			73318218	A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Silent	SNP	ENST00000377669.2	37	CCDS9449.1																																																																																				0.502	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249	
TMTC4	84899	hgsc.bcm.edu	37	13	101289887	101289887	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr13:101289887T>C	ENST00000376234.3	-	8	1036	c.847A>G	c.(847-849)Atg>Gtg	p.M283V	TMTC4_ENST00000328767.5_Missense_Mutation_p.M172V|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000342624.5_Missense_Mutation_p.M302V	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	283						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACGTAGAGCATCCCAGCCCCT	0.637																																																	0			13											73.0	74.0	74.0					13																	101289887		2203	4300	6503	100087888	SO:0001583	missense	84899				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.847A>G	13.37:g.101289887T>C	ENSP00000365408:p.Met283Val		100087888	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	T	5.296	0.240030	0.10023	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.58210	0.36;0.35;1.24	5.6	-0.817	0.10836	.	0.389804	0.33477	N	0.004871	T	0.41026	0.1141	L	0.54323	1.7	0.21897	N	0.99949	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.29181	-1.0020	10	0.48119	T	0.1	.	6.9719	0.24654	0.0:0.2483:0.1205:0.6312	.	172;283;283;302	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	V	283;302;172	ENSP00000365408:M283V;ENSP00000343871:M302V;ENSP00000365409:M172V	ENSP00000365409:M172V	M	-	1	0	TMTC4	100087888	0.096000	0.21769	0.020000	0.16555	0.394000	0.30568	0.364000	0.20325	-0.385000	0.07833	0.533000	0.62120	ATG		0.637	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813	
ITIH2	3698	hgsc.bcm.edu	37	10	7773950	7773950	+	Silent	SNP	G	G	A	rs150260189		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr10:7773950G>A	ENST00000358415.4	+	13	1804	c.1638G>A	c.(1636-1638)acG>acA	p.T546T	ITIH2_ENST00000379587.4_Silent_p.T535T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	546					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCGTTATCACGGCGACTTCGG	0.438																																																	0			10											127.0	119.0	122.0					10																	7773950		2203	4300	6503	7813956	SO:0001819	synonymous_variant	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1638G>A	10.37:g.7773950G>A			7813956	Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	CCDS31141.1																																																																																				0.438	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	
ARHGAP21	57584	hgsc.bcm.edu	37	10	24873709	24873709	+	Missense_Mutation	SNP	G	G	A	rs151326840		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr10:24873709G>A	ENST00000396432.2	-	26	5995	c.5509C>T	c.(5509-5511)Cgg>Tgg	p.R1837W		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1836	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGTTTTAACCGGTTTACAGCT	0.498																																																	0			10						G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	90.0	88.0	89.0		5509	2.5	0.0	10	dbSNP_134	89	0,8600		0,0,4300	no	missense	ARHGAP21	NM_020824.3	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	1837/1959	24873709	2,13004	2203	4300	6503	24913715	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5509C>T	10.37:g.24873709G>A	ENSP00000379709:p.Arg1837Trp		24913715	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946163	0.34377	4.54E-4	0.0	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.15718	2.4	5.52	2.48	0.30137	.	0.111469	0.64402	D	0.000009	T	0.37812	0.1017	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.12656	-1.0539	10	0.87932	D	0	.	9.394	0.38390	0.0678:0.0:0.6788:0.2534	.	1836	Q5T5U3	RHG21_HUMAN	W	1837;1286	ENSP00000379709:R1837W	ENSP00000379709:R1837W	R	-	1	2	ARHGAP21	24913715	1.000000	0.71417	0.009000	0.14445	0.010000	0.07245	3.853000	0.55941	0.604000	0.29930	0.655000	0.94253	CGG		0.498	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
PTEN	5728	hgsc.bcm.edu	37	10	89692776	89692776	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr10:89692776A>G	ENST00000371953.3	+	5	1617	c.260A>G	c.(259-261)cAa>cGa	p.Q87R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	87	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.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(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)		ACAGTTGCACAATATCCTTTT	0.328		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"""	52	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Deletion - In frame(2)	prostate(16)|central_nervous_system(11)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	10											107.0	98.0	101.0					10																	89692776		2203	4300	6503	89682756	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.260A>G	10.37:g.89692776A>G	ENSP00000361021:p.Gln87Arg		89682756	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.343964	0.41498	.	.	ENSG00000171862	ENST00000371953	D	0.85484	-1.99	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72162	0.3426	N	0.01091	-1.02	0.80722	D	1	P	0.52692	0.955	P	0.52343	0.696	T	0.76342	-0.2994	9	.	.	.	-7.9828	14.8406	0.70220	1.0:0.0:0.0:0.0	.	87	P60484	PTEN_HUMAN	R	87	ENSP00000361021:Q87R	.	Q	+	2	0	PTEN	89682756	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.914000	0.92735	1.880000	0.54463	0.533000	0.62120	CAA		0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89720849	89720849	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr10:89720849A>G	ENST00000371953.3	+	8	2357	c.1000A>G	c.(1000-1002)Aac>Gac	p.N334D	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	334	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.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)|p.N334Y(1)|p.D326_K342del(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)		AGACAAAGCCAACCGATACTT	0.333		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"""	52	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(2)|urinary_tract(2)|endometrium(1)	10											63.0	66.0	65.0					10																	89720849		2203	4298	6501	89710829	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.1000A>G	10.37:g.89720849A>G	ENSP00000361021:p.Asn334Asp		89710829	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.748338	0.89663	.	.	ENSG00000171862	ENST00000371953	D	0.84730	-1.89	5.37	5.37	0.77165	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91415	0.7291	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.91435	0.5169	9	.	.	.	-2.0279	15.3536	0.74409	1.0:0.0:0.0:0.0	.	334	P60484	PTEN_HUMAN	D	334	ENSP00000361021:N334D	.	N	+	1	0	PTEN	89710829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.861000	0.92277	2.034000	0.60081	0.482000	0.46254	AAC		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PKD2L1	9033	hgsc.bcm.edu	37	10	102089724	102089724	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr10:102089724A>G	ENST00000318222.3	-	1	519	c.137T>C	c.(136-138)cTc>cCc	p.L46P	PKD2L1_ENST00000353274.3_Missense_Mutation_p.L46P|PKD2L1_ENST00000338519.3_Missense_Mutation_p.L46P	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	46					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TTGGGGCTGGAGAGGCCCCGT	0.617																																																	0			10											78.0	83.0	81.0					10																	102089724		2203	4300	6503	102079714	SO:0001583	missense	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.137T>C	10.37:g.102089724A>G	ENSP00000325296:p.Leu46Pro		102079714	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	A	8.081	0.772366	0.16051	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.61742	0.27;0.08;0.15	5.57	1.89	0.25635	.	1.275030	0.05283	N	0.519747	T	0.22282	0.0537	N	0.00368	-1.59	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.14980	-1.0453	10	0.27082	T	0.32	-2.0943	5.7815	0.18310	0.2213:0.1584:0.6203:0.0	.	46	Q9P0L9	PK2L1_HUMAN	P	46	ENSP00000345068:L46P;ENSP00000266049:L46P;ENSP00000325296:L46P	ENSP00000325296:L46P	L	-	2	0	PKD2L1	102079714	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	1.116000	0.31221	1.360000	0.45960	-0.184000	0.12912	CTC		0.617	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112	
CDH18	1016	hgsc.bcm.edu	37	5	19838901	19838901	+	Silent	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr5:19838901T>C	ENST00000507958.1	-	5	1185	c.195A>G	c.(193-195)gaA>gaG	p.E65E	CDH18_ENST00000274170.4_Silent_p.E65E|CDH18_ENST00000511273.1_Silent_p.E65E|CDH18_ENST00000506372.1_Silent_p.E65E|CDH18_ENST00000502796.1_Silent_p.E65E|CDH18_ENST00000382275.1_Silent_p.E65E			Q13634	CAD18_HUMAN	cadherin 18, type 2	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTCCCATATGTTCTTCTAAAA	0.393																																																	0			5											139.0	121.0	127.0					5																	19838901		2203	4300	6503	19874658	SO:0001819	synonymous_variant	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.195A>G	5.37:g.19838901T>C			19874658	A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	CCDS3889.1																																																																																				0.393	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
PDE4D	5144	hgsc.bcm.edu	37	5	58270807	58270807	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr5:58270807C>T	ENST00000340635.6	-	15	2289	c.2114G>A	c.(2113-2115)cGt>cAt	p.R705H	PDE4D_ENST00000405755.2_Missense_Mutation_p.R583H|PDE4D_ENST00000507116.1_Missense_Mutation_p.R641H|PDE4D_ENST00000502484.2_Missense_Mutation_p.R644H|PDE4D_ENST00000358923.6_Missense_Mutation_p.R403H|PDE4D_ENST00000317118.8_Missense_Mutation_p.R414H|PDE4D_ENST00000360047.5_Missense_Mutation_p.R569H|PDE4D_ENST00000503258.1_Missense_Mutation_p.R575H|PDE4D_ENST00000546160.1_Missense_Mutation_p.R644H	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	705					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GTACCATTCACGATTGTCCTC	0.532																																																	0			5											70.0	72.0	71.0					5																	58270807		2027	4204	6231	58306564	SO:0001583	missense	5144				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2114G>A	5.37:g.58270807C>T	ENSP00000345502:p.Arg705His		58306564	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355466	0.82243	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	D;D;D;D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.08	5.08	0.68730	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.102683	0.64402	D	0.000005	D	0.93828	0.8026	H	0.94423	3.535	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.981;0.989;0.981;0.999;0.999;0.981;0.992;0.995	D	0.95258	0.8366	10	0.87932	D	0	.	18.6453	0.91408	0.0:1.0:0.0:0.0	.	644;705;641;568;583;575;480;414	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	H	705;574;569;641;403;414;575;583;644;644;403	ENSP00000345502:R705H;ENSP00000353152:R569H;ENSP00000424852:R641H;ENSP00000351800:R403H;ENSP00000321739:R414H;ENSP00000425605:R575H;ENSP00000384806:R583H;ENSP00000423094:R644H;ENSP00000442734:R644H;ENSP00000421013:R403H	ENSP00000321739:R414H	R	-	2	0	PDE4D	58306564	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.641000	0.89580	0.655000	0.94253	CGT		0.532	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3		
DIMT1	27292	hgsc.bcm.edu	37	5	61694694	61694694	+	Silent	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr5:61694694T>C	ENST00000199320.4	-	4	415	c.255A>G	c.(253-255)gaA>gaG	p.E85E	KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Silent_p.E85E	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	85						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										TTGGGTCAAGTTCACAAGCAA	0.303																																																	0			5											51.0	51.0	51.0					5																	61694694		2203	4300	6503	61730451	SO:0001819	synonymous_variant	27292			AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"""DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"""	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.255A>G	5.37:g.61694694T>C			61730451	O76025|Q9BU77|Q9UES1	Silent	SNP	ENST00000199320.4	37	CCDS3981.1																																																																																				0.303	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	NM_014473	
SLCO6A1	133482	hgsc.bcm.edu	37	5	101724442	101724442	+	Missense_Mutation	SNP	C	C	T	rs139236845	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr5:101724442C>T	ENST00000506729.1	-	12	2138	c.1967G>A	c.(1966-1968)cGt>cAt	p.R656H	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R403H|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R403H|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R656H|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R594H			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	656						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R656H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TATCCAACAACGTCCTGTGTG	0.303													C|||	5	0.000998403	0.003	0.0	5008	,	,		14930	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	central_nervous_system(1)	5						C	HIS/ARG	3,4399	6.2+/-15.9	0,3,2198	69.0	69.0	69.0		1967	-10.1	0.0	5	dbSNP_134	69	0,8592		0,0,4296	no	missense	SLCO6A1	NM_173488.3	29	0,3,6494	TT,TC,CC		0.0,0.0682,0.0231	benign	656/720	101724442	3,12991	2201	4296	6497	101752341	SO:0001583	missense	133482			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1967G>A	5.37:g.101724442C>T	ENSP00000421339:p.Arg656His		101752341	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.564	0.878400	0.17395	6.82E-4	0.0	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.06	-10.1	0.00402	Major facilitator superfamily domain, general substrate transporter (1);	1.363240	0.04835	N	0.439495	T	0.25344	0.0616	L	0.38175	1.15	0.09310	N	1	B;P;B	0.36010	0.36;0.532;0.285	B;B;B	0.30855	0.034;0.121;0.032	T	0.18053	-1.0349	10	0.39692	T	0.17	.	8.3098	0.32064	0.0743:0.1031:0.1838:0.6388	.	594;403;656	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	H	656;656;594;403;403	ENSP00000421339:R656H;ENSP00000369135:R656H;ENSP00000373671:R594H;ENSP00000421990:R403H;ENSP00000369138:R403H	ENSP00000369135:R656H	R	-	2	0	SLCO6A1	101752341	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.758000	0.00787	-3.320000	0.00188	-0.143000	0.13931	CGT		0.303	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
FER	2241	hgsc.bcm.edu	37	5	108168541	108168541	+	Missense_Mutation	SNP	A	A	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr5:108168541A>T	ENST00000281092.4	+	4	662	c.278A>T	c.(277-279)aAc>aTc	p.N93I	FER_ENST00000502752.1_3'UTR|FER_ENST00000536402.1_Missense_Mutation_p.N93I|CTD-2197I11.1_ENST00000510935.1_RNA|FER_ENST00000438717.2_Intron	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	93	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GAGGACTTGAACTCTGGACCT	0.383																																					Colon(146;1051 1799 9836 27344 47401)												0			5											144.0	131.0	136.0					5																	108168541		2202	4300	6502	108196440	SO:0001583	missense	2241			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.278A>T	5.37:g.108168541A>T	ENSP00000281092:p.Asn93Ile		108196440	B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.182173	0.78677	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	T;T	0.42900	0.96;0.96	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	L	0.55481	1.735	0.80722	D	1	P;B	0.41366	0.747;0.449	P;B	0.45971	0.499;0.373	T	0.45891	-0.9230	10	0.49607	T	0.09	-18.6913	16.5047	0.84268	1.0:0.0:0.0:0.0	.	93;93	Q6PEJ9;P16591	.;FER_HUMAN	I	93	ENSP00000281092:N93I;ENSP00000442627:N93I	ENSP00000281092:N93I	N	+	2	0	FER	108196440	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.513000	0.67037	2.297000	0.77311	0.533000	0.62120	AAC		0.383	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246	
APC	324	hgsc.bcm.edu	37	5	112173917	112173917	+	Nonsense_Mutation	SNP	C	C	T	rs121913333		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr5:112173917C>T	ENST00000457016.1	+	16	3006	c.2626C>T	c.(2626-2628)Cga>Tga	p.R876*	APC_ENST00000508376.2_Nonsense_Mutation_p.R876*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.R876*			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	112175400	112175400	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr5:112175400A>G	ENST00000457016.1	+	16	4489	c.4109A>G	c.(4108-4110)aAa>aGa	p.K1370R	APC_ENST00000508376.2_Missense_Mutation_p.K1370R|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.K1370R			P25054	APC_HUMAN	adenomatous polyposis coli	1370	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)|p.P1372fs*2(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)		CAGACACCCAAAAGTCCACCT	0.458		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"""	3	Deletion - Frameshift(2)|Unknown(1)	large_intestine(1)|soft_tissue(1)|skin(1)	5											79.0	76.0	77.0					5																	112175400		2202	4300	6502	112203299	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.4109A>G	5.37:g.112175400A>G	ENSP00000413133:p.Lys1370Arg		112203299	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.269525	0.80469	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	T;T;T	0.76448	-1.02;-1.02;-1.02	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.83059	0.5172	L	0.36672	1.1	0.58432	D	0.999993	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.81673	-0.0826	9	.	.	.	-27.6547	16.4957	0.84242	1.0:0.0:0.0:0.0	.	1372;1370	Q4LE70;P25054	.;APC_HUMAN	R	1370	ENSP00000413133:K1370R;ENSP00000257430:K1370R;ENSP00000427089:K1370R	.	K	+	2	0	APC	112203299	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.013000	0.76373	2.371000	0.80710	0.533000	0.62120	AAA		0.458	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175576	112175576	+	Nonsense_Mutation	SNP	C	C	T	rs74535574		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr5:112175576C>T	ENST00000457016.1	+	16	4665	c.4285C>T	c.(4285-4287)Caa>Taa	p.Q1429*	APC_ENST00000508376.2_Nonsense_Mutation_p.Q1429*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.Q1429*			P25054	APC_HUMAN	adenomatous polyposis coli	1429	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.Q1429*(35)|p.Q1429fs*8(4)|p.Y1376fs*41(1)|p.?(1)|p.P1424fs*19(1)|p.S1411fs*41(1)|p.K1192fs*3(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)		TAGCCCTGGACAAACCATGCC	0.468	Q1429*(NCIH747_LARGE_INTESTINE)|Q1429*(SW948_LARGE_INTESTINE)	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"""	44	Substitution - Nonsense(35)|Deletion - Frameshift(8)|Unknown(1)	large_intestine(42)|soft_tissue(1)|skin(1)	5	GRCh37	HM050024	APC	M	rs74535574						109.0	98.0	102.0					5																	112175576		2202	4300	6502	112203475	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.4285C>T	5.37:g.112175576C>T	ENSP00000413133:p.Gln1429*		112203475	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.799924	0.98958	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.8813	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	1429	.	.	Q	+	1	0	APC	112203475	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.884000	0.98904	0.655000	0.94253	CAA		0.468	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
FEM1C	56929	hgsc.bcm.edu	37	5	114860474	114860474	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr5:114860474T>C	ENST00000274457.3	-	3	1946	c.1385A>G	c.(1384-1386)gAc>gGc	p.D462G		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	462			D -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TTTGAAATGGTCTTGTTCTAG	0.388																																																	0			5											129.0	131.0	130.0					5																	114860474		2202	4299	6501	114888373	SO:0001583	missense	56929				CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"""Ankyrin repeat domain containing"""	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.1385A>G	5.37:g.114860474T>C	ENSP00000274457:p.Asp462Gly		114888373	B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	ENST00000274457.3	37	CCDS4118.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.495671	0.44352	.	.	ENSG00000145780	ENST00000274457	T	0.67171	-0.25	5.55	5.55	0.83447	Ankyrin repeat-containing domain (2);	0.095094	0.64402	D	0.000001	T	0.53916	0.1826	L	0.28556	0.865	0.58432	D	0.999998	B	0.27192	0.171	B	0.32724	0.151	T	0.50742	-0.8792	10	0.02654	T	1	-26.8312	15.6943	0.77481	0.0:0.0:0.0:1.0	.	462	Q96JP0	FEM1C_HUMAN	G	462	ENSP00000274457:D462G	ENSP00000274457:D462G	D	-	2	0	FEM1C	114888373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.993000	0.88291	2.103000	0.63969	0.533000	0.62120	GAC		0.388	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177	
BRD8	10902	hgsc.bcm.edu	37	5	137500548	137500548	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr5:137500548A>G	ENST00000254900.5	-	12	1957	c.1586T>C	c.(1585-1587)gTt>gCt	p.V529A	BRD8_ENST00000402931.1_Missense_Mutation_p.V529A|BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000230901.5_Missense_Mutation_p.V602A|BRD8_ENST00000455658.2_Missense_Mutation_p.V488A|BRD8_ENST00000411594.2_Missense_Mutation_p.V532A	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	529					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTGGCTGGAACAACTCCAGC	0.517																																																	0			5											117.0	111.0	113.0					5																	137500548		2203	4300	6503	137528447	SO:0001583	missense	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.1586T>C	5.37:g.137500548A>G	ENSP00000254900:p.Val529Ala		137528447	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	CCDS4198.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.359|2.359	-0.346969|-0.346969	0.05208|0.05208	.|.	.|.	ENSG00000112983|ENSG00000112983	ENST00000441656|ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658	.|T;T;T;T;T;T;T	.|0.31510	.|1.87;1.5;1.49;1.64;1.62;1.49;1.61	5.38|5.38	2.92|2.92	0.33932|0.33932	.|.	.|0.482456	.|0.19559	.|N	.|0.111371	T|T	0.11750|0.11750	0.0286|0.0286	N|N	0.08118|0.08118	0|0	0.22842|0.22842	N|N	0.998669|0.998669	.|B;B;B;B;B;B;B;B	.|0.06786	.|0.0;0.0;0.0;0.0;0.001;0.0;0.0;0.001	.|B;B;B;B;B;B;B;B	.|0.04013	.|0.001;0.0;0.001;0.0;0.001;0.001;0.0;0.001	T|T	0.35871|0.35871	-0.9771|-0.9771	5|10	.|0.02654	.|T	.|1	-0.852|-0.852	7.3575|7.3575	0.26727|0.26727	0.7322:0.1921:0.0757:0.0|0.7322:0.1921:0.0757:0.0	.|.	.|488;513;308;602;532;423;602;529	.|F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.|.;.;.;.;.;.;.;BRD8_HUMAN	L|A	523|529;558;527;602;529;532;423;488	.|ENSP00000254900:V529A;ENSP00000398067:V558A;ENSP00000398873:V527A;ENSP00000230901:V602A;ENSP00000384845:V529A;ENSP00000394330:V532A;ENSP00000408396:V488A	.|ENSP00000230901:V602A	F|V	-|-	1|2	0|0	BRD8|BRD8	137528447|137528447	0.987000|0.987000	0.35691|0.35691	0.998000|0.998000	0.56505|0.56505	0.980000|0.980000	0.70556|0.70556	0.761000|0.761000	0.26489|0.26489	0.432000|0.432000	0.26286|0.26286	0.397000|0.397000	0.26171|0.26171	TTC|GTT		0.517	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696	
PCDHA9	9752	hgsc.bcm.edu	37	5	140229878	140229878	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr5:140229878G>A	ENST00000532602.1	+	1	2831	c.1798G>A	c.(1798-1800)Gac>Aac	p.D600N	PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.D600N|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	600	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGACGCCGACTCGGGCTA	0.677																																					Melanoma(55;1800 1972 14909)												0			5											63.0	69.0	67.0					5																	140229878		2196	4268	6464	140210062	SO:0001583	missense	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1798G>A	5.37:g.140229878G>A	ENSP00000436042:p.Asp600Asn		140210062	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858484	0.71834	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.74002	-0.8;-0.8	3.36	3.36	0.38483	Cadherin (4);Cadherin-like (1);	0.000000	0.32753	U	0.005685	D	0.92286	0.7553	H	0.99659	4.685	0.42344	D	0.992349	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.95881	0.8899	10	0.87932	D	0	.	15.2417	0.73476	0.0:0.0:1.0:0.0	.	600;600	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	N	600	ENSP00000436042:D600N;ENSP00000367362:D600N	ENSP00000367362:D600N	D	+	1	0	PCDHA9	140210062	1.000000	0.71417	0.945000	0.38365	0.205000	0.24178	8.743000	0.91592	1.839000	0.53478	0.313000	0.20887	GAC		0.677	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
RBM27	54439	hgsc.bcm.edu	37	5	145631292	145631292	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr5:145631292G>A	ENST00000265271.5	+	9	1464	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	433					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTACTCTCGTGAACATGGT	0.527																																																	0			5											117.0	103.0	108.0					5																	145631292		1568	3582	5150	145611485	SO:0001583	missense	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.1298G>A	5.37:g.145631292G>A	ENSP00000265271:p.Arg433His		145611485	Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.358685	0.61403	.	.	ENSG00000091009	ENST00000265271	T	0.46451	0.87	5.5	5.5	0.81552	.	0.000000	0.48767	D	0.000165	T	0.40297	0.1111	N	0.08118	0	0.27065	N	0.963466	D	0.71674	0.998	D	0.69479	0.964	T	0.29397	-1.0013	10	0.13853	T	0.58	-10.5245	14.7704	0.69671	0.0:0.0:1.0:0.0	.	433	Q9P2N5	RBM27_HUMAN	H	433	ENSP00000265271:R433H	ENSP00000265271:R433H	R	+	2	0	RBM27	145611485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.235000	0.58666	2.861000	0.98227	0.655000	0.94253	CGT		0.527	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128	
CLTB	1212	hgsc.bcm.edu	37	5	175824681	175824681	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr5:175824681T>C	ENST00000310418.4	-	4	596	c.391A>G	c.(391-393)Aag>Gag	p.K131E	CLTB_ENST00000345807.2_Missense_Mutation_p.K131E	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	131	Involved in binding clathrin heavy chain.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		TTCTTGGCCTTCTCCCGCCAT	0.577																																																	0			5											167.0	157.0	160.0					5																	175824681		2203	4300	6503	175757287	SO:0001583	missense	1212			M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"""clathrin, light polypeptide (Lcb)"""			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.391A>G	5.37:g.175824681T>C	ENSP00000309415:p.Lys131Glu		175757287	Q53Y37|Q6FHW1	Missense_Mutation	SNP	ENST00000310418.4	37	CCDS4403.1	.	.	.	.	.	.	.	.	.	.	t	16.56	3.156766	0.57259	.	.	ENSG00000175416	ENST00000310418;ENST00000345807	.	.	.	4.0	2.79	0.32731	.	0.000000	0.85682	U	0.000000	T	0.66655	0.2811	M	0.72118	2.19	0.51767	D	0.99993	D;D	0.63046	0.982;0.992	P;D	0.65010	0.767;0.931	T	0.63541	-0.6614	9	0.12766	T	0.61	.	9.4807	0.38900	0.1587:0.0:0.0:0.8413	.	131;131	P09497-2;P09497	.;CLCB_HUMAN	E	131	.	ENSP00000309415:K131E	K	-	1	0	CLTB	175757287	1.000000	0.71417	0.998000	0.56505	0.622000	0.37654	6.227000	0.72282	0.395000	0.25257	0.248000	0.18094	AAG		0.577	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1		
NLRP14	338323	hgsc.bcm.edu	37	11	7083736	7083736	+	Splice_Site	SNP	T	T	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr11:7083736T>G	ENST00000299481.4	+	10	3321		c.e10+2			NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAGGCTCGGGTGAGTTCATAG	0.408																																																	0			11											113.0	106.0	109.0					11																	7083736		2201	4296	6497	7040312	SO:0001630	splice_region_variant	338323			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2975+2T>G	11.37:g.7083736T>G			7040312	Q7RTR6	Splice_Site	SNP	ENST00000299481.4	37	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.737484	0.49045	.	.	ENSG00000158077	ENST00000299481	.	.	.	4.84	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6353	0.33943	0.0:0.0:0.194:0.806	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP14	7040312	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	4.383000	0.59600	0.957000	0.37930	0.533000	0.62120	.		0.408	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822	Intron
IPO7	10527	hgsc.bcm.edu	37	11	9459625	9459625	+	Splice_Site	SNP	A	A	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr11:9459625A>T	ENST00000379719.3	+	22	2631		c.e22-1			NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7						innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ttttttttttAGGCTTCATGA	0.318																																																	0			11											56.0	61.0	59.0					11																	9459625		2201	4294	6495	9416201	SO:0001630	splice_region_variant	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2490-1A>T	11.37:g.9459625A>T			9416201	A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Splice_Site	SNP	ENST00000379719.3	37	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.163039	0.38217	.	.	ENSG00000205339	ENST00000379719	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0525	0.71885	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IPO7	9416201	1.000000	0.71417	0.975000	0.42487	0.219000	0.24729	8.945000	0.92985	1.960000	0.56953	0.377000	0.23210	.		0.318	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391	Intron
SLC43A1	8501	hgsc.bcm.edu	37	11	57281597	57281597	+	5'UTR	SNP	C	C	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr11:57281597C>T	ENST00000278426.3	-	0	343				SLC43A1_ENST00000528450.1_5'UTR	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TGGCCCCGAGCCTGCACAGAA	0.677																																																	0			11											8.0	10.0	9.0					11																	57281597		2185	4277	6462	57038173	SO:0001623	5_prime_UTR_variant	8501			AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.-13G>A	11.37:g.57281597C>T			57038173		Splice_Site	SNP	ENST00000278426.3	37	CCDS7958.1																																																																																				0.677	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627	
TP53	7157	hgsc.bcm.edu	37	17	7579591	7579591	+	Splice_Site	SNP	C	C	G			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr17:7579591C>G	ENST00000269305.4	-	4	286		c.e4-1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site	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						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.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(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)	GCAAGGGGGACTGTAGATGGG	0.592		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	bone(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|pancreas(3)|upper_aerodigestive_tract(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	17	GRCh37	CS971912	TP53	S							141.0	137.0	138.0					17																	7579591		2203	4300	6503	7520316	SO:0001630	splice_region_variant	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.97-1G>C	17.37:g.7579591C>G			7520316	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	6.036	0.374935	0.11409	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	2.49	2.49	0.30216	.	.	.	.	.	.	.	.	.	.	.	0.40870	D	0.9839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6143	0.33822	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520316	0.879000	0.30193	0.021000	0.16686	0.027000	0.11550	1.937000	0.40193	1.730000	0.51580	0.561000	0.74099	.		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron
NMNAT3	349565	hgsc.bcm.edu	37	3	139280235	139280235	+	Splice_Site	SNP	C	C	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr3:139280235C>A	ENST00000296202.7	-	6	758		c.e6-1		RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000413939.2_Splice_Site|NMNAT3_ENST00000507242.1_Splice_Site|NMNAT3_ENST00000511444.1_Splice_Site|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000406824.1_Splice_Site|NMNAT3_ENST00000512391.1_Splice_Site|NMNAT3_ENST00000339837.5_Splice_Site|NMNAT3_ENST00000406164.1_Splice_Site			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3						NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						TCAGGCACAGCTGCAAAAACA	0.483																																																	0			3											43.0	47.0	46.0					3																	139280235		2203	4300	6503	140762925	SO:0001630	splice_region_variant	349565			AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864			20989	protein-coding gene	gene with protein product		608702				12574164	Standard	NM_178177		Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000296202.7:c.377-1G>T	3.37:g.139280235C>A			140762925	B3KVR6|D3DNF2|D3DNF3|Q8N4G1	Splice_Site	SNP	ENST00000296202.7	37		.	.	.	.	.	.	.	.	.	.	C	18.62	3.663041	0.67700	.	.	ENSG00000163864	ENST00000406164;ENST00000406824;ENST00000339837;ENST00000413939;ENST00000296202;ENST00000511444;ENST00000512391	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6495	0.91425	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NMNAT3	140762925	1.000000	0.71417	0.966000	0.40874	0.888000	0.51559	6.740000	0.74832	2.639000	0.89480	0.650000	0.86243	.		0.483	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000358469.1	NM_178177	Intron
C5	727	hgsc.bcm.edu	37	9	123792766	123792766	+	Splice_Site	SNP	C	C	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr9:123792766C>A	ENST00000223642.1	-	7	697		c.e7-1			NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5						activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TGTGGCAAGACTGAAAATAAA	0.318																																																	0			9											19.0	19.0	19.0					9																	123792766		2132	4146	6278	122832587	SO:0001630	splice_region_variant	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.668-1G>T	9.37:g.123792766C>A			122832587	Q14CJ0|Q27I61	Splice_Site	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393396	0.42410	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.516	0.90936	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C5	122832587	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	4.856000	0.62932	2.725000	0.93324	0.655000	0.94253	.		0.318	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735	Intron
BAI2	576	hgsc.bcm.edu	37	1	32207245	32207247	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	TTG	TTG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr1:32207245_32207247delTTG	ENST00000373658.3	-	10	2006_2008	c.1665_1667delCAA	c.(1663-1668)aacaag>aag	p.N555del	BAI2_ENST00000398538.1_In_Frame_Del_p.N543del|BAI2_ENST00000440175.2_In_Frame_Del_p.N197del|BAI2_ENST00000398547.1_In_Frame_Del_p.N488del|BAI2_ENST00000527361.1_In_Frame_Del_p.N555del|BAI2_ENST00000257070.4_In_Frame_Del_p.N555del|BAI2_ENST00000398556.3_In_Frame_Del_p.N503del|BAI2_ENST00000398542.1_In_Frame_Del_p.N488del|BAI2_ENST00000373655.2_In_Frame_Del_p.N555del	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	555					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CGGGGGGCACTTGTTGTAGATGA	0.596																																																	0			1																																								31979834	SO:0001651	inframe_deletion	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1665_1667delCAA	1.37:g.32207248_32207250delTTG	ENSP00000362762:p.Asn555del		31979832	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	In_Frame_Del	DEL	ENST00000373658.3	37	CCDS346.2																																																																																				0.596	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703	
PRG4	10216	hgsc.bcm.edu	37	1	186276924	186276924	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr1:186276924delT	ENST00000445192.2	+	7	2118	c.2073delT	c.(2071-2073)actfs	p.T692fs	PRG4_ENST00000367486.3_Frame_Shift_Del_p.T649fs|PRG4_ENST00000367483.4_Frame_Shift_Del_p.T651fs|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Frame_Shift_Del_p.T599fs	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	692	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCTCCAACTACCCCTAAGG	0.602																																																	0			1											67.0	83.0	77.0					1																	186276924		2203	4297	6500	184543547	SO:0001589	frameshift_variant	23572			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2073delT	1.37:g.186276924delT	ENSP00000399679:p.Thr692fs		184543547	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Frame_Shift_Del	DEL	ENST00000445192.2	37	CCDS1369.1																																																																																				0.602	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
CDKL3	51265	hgsc.bcm.edu	37	5	133634348	133634349	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr5:133634348_133634349insA	ENST00000265334.4	-	13	1890_1891	c.1772_1773insT	c.(1771-1773)ttcfs	p.F591fs	CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000435240.2_Intron|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609383.1_Intron|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000523054.1_3'UTR	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	591					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACACTACCAGAAAAAAAACCT	0.356																																																	0			5																																								133662248	SO:0001589	frameshift_variant	51265			AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.1773dupT	5.37:g.133634356_133634356dupA	ENSP00000265334:p.Phe591fs		133662247	D3DQA0|D3DQA1|Q9P114	Frame_Shift_Ins	INS	ENST00000265334.4	37	CCDS47264.1																																																																																				0.356	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575	
MYLK4	340156	hgsc.bcm.edu	37	6	2749453	2749454	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:2749453_2749454insA	ENST00000274643.7	-	2	417_418	c.75_76insT	c.(73-78)tttcagfs	p.Q26fs	MYLK4_ENST00000268446.5_Frame_Shift_Ins_p.Q26fs	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	26						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCCCTGCACTGAAAAAAGGCCA	0.401																																																	0			6																																								2694453	SO:0001589	frameshift_variant	340156				CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.76dupT	6.37:g.2749459_2749459dupA	ENSP00000274643:p.Gln26fs		2694452	A2RUC0|Q5TAW2	Frame_Shift_Ins	INS	ENST00000274643.7	37	CCDS34330.1																																																																																				0.401	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418	
HLA-DQA1	3117	hgsc.bcm.edu	37	6	32609296	32609297	+	Frame_Shift_Ins	INS	-	-	G	rs9279910|rs9282026		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:32609296_32609297insG	ENST00000343139.5	+	2	394_395	c.292_293insG	c.(292-294)atcfs	p.I98fs	HLA-DQA1_ENST00000395363.1_Frame_Shift_Ins_p.I98fs|HLA-DQA1_ENST00000374949.2_Frame_Shift_Ins_p.I98fs	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	97	Alpha-1.		L -> M (in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07).|L -> V (in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAACTTGAACATCATGATTAAA	0.48																																																	0			6								427,3759		87,253,1753						-3.9	0.0		dbSNP_118	83	1014,6964		244,526,3219	no	frameshift	HLA-DQA1	NM_002122.3		331,779,4972	A1A1,A1R,RR		12.71,10.2007,11.8464				1441,10723				32717275	SO:0001589	frameshift_variant	3117				CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	Exception_encountered	6.37:g.32609296_32609297insG	ENSP00000339398:p.Ile98fs		32717274	O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Frame_Shift_Ins	INS	ENST00000343139.5	37	CCDS4752.1																																																																																				0.480	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122	
HLA-DQA1	3117	hgsc.bcm.edu	37	6	32609299	32609299	+	Frame_Shift_Del	DEL	A	A	-	rs199556640|rs371894400|rs1064944	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:32609299delA	ENST00000343139.5	+	2	397	c.295delA	c.(295-297)atgfs	p.M99fs	HLA-DQA1_ENST00000395363.1_Frame_Shift_Del_p.M99fs|HLA-DQA1_ENST00000374949.2_Frame_Shift_Del_p.M99fs	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	98	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CTTGAACATCATGATTAAACG	0.478																																																	0			6								349,3769		119,111,1829	95.0	82.0	86.0			2.2	0.0	6	dbSNP_118	84	786,7010		289,208,3401	no	frameshift	HLA-DQA1	NM_002122.3		408,319,5230	A1A1,A1R,RR		10.0821,8.475,9.5266			32609299	1135,10779	2029	3748	5777	32717277	SO:0001589	frameshift_variant	3117				CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.295delA	6.37:g.32609299delA	ENSP00000339398:p.Met99fs		32717277	O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Frame_Shift_Del	DEL	ENST00000343139.5	37	CCDS4752.1																																																																																				0.478	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122	
FAM120B	84498	hgsc.bcm.edu	37	6	170627660	170627695	+	In_Frame_Del	DEL	CCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGA	CCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGA	-	rs148592361|rs200974766|rs9348265|rs113032155|rs544250317	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	CCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGA	CCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr6:170627660_170627695delCCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGA	ENST00000476287.1	+	2	1290_1325	c.1182_1217delCCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGA	c.(1180-1218)ggccctgaatccaggcgagaagttcccatgtgttcagac>ggc	p.PESRREVPMCSD395del	FAM120B_ENST00000540480.1_In_Frame_Del_p.PESRREVPMCSD407del|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_In_Frame_Del_p.PESRREVPMCSD418del	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	395					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.G394fs*81(1)|p.S397F(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CGTGTACAGGCCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGACCCTGAACCC	0.53																																																	2	Substitution - Missense(1)|Deletion - Frameshift(1)	endometrium(1)|kidney(1)	6								115,4149		0,115,2017						0.7	0.0			183	326,7928		0,326,3801	no	coding	FAM120B	NM_032448.1		0,441,5818	A1A1,A1R,RR		3.9496,2.697,3.5229				441,12077				170469620	SO:0001651	inframe_deletion	84498			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1182_1217delCCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGA	6.37:g.170627660_170627695delCCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGA	ENSP00000417970:p.Pro395_Asp406del		170469585	B4DL34|Q86V68|Q96JI9	In_Frame_Del	DEL	ENST00000476287.1	37	CCDS5314.1																																																																																				0.530	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448	
USP20	10868	hgsc.bcm.edu	37	9	132630665	132630667	+	In_Frame_Del	DEL	GAC	GAC	-	rs10602985|rs398096692	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	GAC	GAC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr9:132630665_132630667delGAC	ENST00000315480.4	+	11	1230_1232	c.1072_1074delGAC	c.(1072-1074)gacdel	p.D359del	USP20_ENST00000358355.1_In_Frame_Del_p.D359del|USP20_ENST00000372429.3_In_Frame_Del_p.D359del			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	359	USP.			Missing (in Ref. 1; AAL79676, 2; BAA76847, 4; EAW87914 and 5; AAH39593). {ECO:0000305}.	endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GGCTGCCCTTGACGACCAGCCCG	0.675														4250	0.848642	0.643	0.9035	5008	,	,		13673	0.9831		0.9066	False		,,,				2504	0.8896																0			9							,,	2734,1342		971,792,275					,,	-3.8	0.1		dbSNP_130	35	7092,970		3142,808,81	no	coding,coding,coding	USP20	NM_006676.6,NM_001110303.2,NM_001008563.3	,,	4113,1600,356	A1A1,A1R,RR		12.0318,32.9244,19.0476	,,	,,		9826,2312				131670488	SO:0001651	inframe_deletion	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1072_1074delGAC	9.37:g.132630668_132630670delGAC	ENSP00000313811:p.Asp359del		131670486	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	In_Frame_Del	DEL	ENST00000315480.4	37	CCDS43892.1																																																																																				0.675	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2		
FRG2B	441581	hgsc.bcm.edu	37	10	135440123	135440124	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr10:135440123_135440124insT	ENST00000425520.1	-	1	175_176	c.123_124insA	c.(121-126)aaagaafs	p.E42fs	FRG2B_ENST00000443774.1_Frame_Shift_Ins_p.E42fs	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	42						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTGCCTTTTTCTTTGAATGGTT	0.515																																																	0			10																																								135290114	SO:0001589	frameshift_variant	441581			AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.124dupA	10.37:g.135440126_135440126dupT	ENSP00000401310:p.Glu42fs		135290113	Q5VSQ1	Frame_Shift_Ins	INS	ENST00000425520.1	37	CCDS44502.1																																																																																				0.515	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998	
MUC6	4588	hgsc.bcm.edu	37	11	1018089	1018089	+	Frame_Shift_Del	DEL	G	G	-	rs368342230		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr11:1018089delG	ENST00000421673.2	-	31	4762	c.4712delC	c.(4711-4713)ccafs	p.P1572fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1572	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGAAGGGTGGTGGTGGCCT	0.577																																																	0			11											258.0	266.0	263.0					11																	1018089		2180	4263	6443	1008089	SO:0001589	frameshift_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4712delC	11.37:g.1018089delG	ENSP00000406861:p.Pro1572fs		1008089	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Del	DEL	ENST00000421673.2	37	CCDS44513.1																																																																																				0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
MUC6	4588	hgsc.bcm.edu	37	11	1018093	1018094	+	Frame_Shift_Ins	INS	-	-	T	rs376177791|rs372288551		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr11:1018093_1018094insT	ENST00000421673.2	-	31	4757_4758	c.4707_4708insA	c.(4705-4710)ccaccafs	p.P1570fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1570	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGGTGGTGGTGGCCTGCTGC	0.574																																																	0			11																																								1008094	SO:0001589	frameshift_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4708dupA	11.37:g.1018094_1018094dupT	ENSP00000406861:p.Pro1570fs		1008093	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Ins	INS	ENST00000421673.2	37	CCDS44513.1																																																																																				0.574	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
DCHS1	8642	hgsc.bcm.edu	37	11	6643573	6643574	+	Frame_Shift_Ins	INS	-	-	GC	rs150591111|rs576965402	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr11:6643573_6643574insGC	ENST00000299441.3	-	21	9744_9745	c.9333_9334insGC	c.(9331-9336)gggcccfs	p.P3112fs	TPP1_ENST00000533371.1_5'Flank|TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000299427.6_5'Flank|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000528657.1_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3112					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGCTGGGGGCCCCTCCTCTC	0.649																																																	0			11																																								6600150	SO:0001589	frameshift_variant	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9333_9334insGC	11.37:g.6643573_6643574insGC	ENSP00000299441:p.Pro3112fs		6600149	O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	CCDS7771.1																																																																																				0.649	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
CASP5	838	hgsc.bcm.edu	37	11	104878041	104878041	+	Frame_Shift_Del	DEL	T	T	-	rs144697764		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr11:104878041delT	ENST00000260315.3	-	3	201	c.202delA	c.(202-204)acafs	p.T68fs	CASP5_ENST00000526056.1_Frame_Shift_Del_p.T81fs|CASP5_ENST00000393139.2_Frame_Shift_Del_p.T35fs|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393141.2_Frame_Shift_Del_p.T81fs|CASP5_ENST00000444749.2_Frame_Shift_Del_p.T10fs			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	68	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				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)	p.T52fs*26(1)		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)		ATCTTAACTGTTTTTTTTTTG	0.358																																																	1	Deletion - Frameshift(1)	ovary(1)	11							,,,	386,251,42,3585		1,0,1,383,0,0,251,0,41,1455	104.0	101.0	102.0		,,,	-2.3	0.0	11	dbSNP_132	106	651,407,1,7195		0,0,0,651,0,0,407,0,1,3068	no	codingComplex,codingComplex,intron,codingComplex	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	1,0,1,1034,0,0,658,0,42,4523	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		12.8301,15.924,13.884	,,,	,,,	104878041	1037,658,43,10780	2202	4299	6501	104383251	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.202delA	11.37:g.104878041delT	ENSP00000260315:p.Thr68fs		104383251	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	ENST00000260315.3	37	CCDS8328.2																																																																																				0.358	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347	
WNK1	65125	hgsc.bcm.edu	37	12	970297	970297	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr12:970297delA	ENST00000315939.6	+	7	2382	c.1739delA	c.(1738-1740)gaafs	p.E580fs	WNK1_ENST00000535572.1_Frame_Shift_Del_p.E580fs|WNK1_ENST00000537687.1_Frame_Shift_Del_p.E580fs|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Frame_Shift_Del_p.E173fs|WNK1_ENST00000530271.2_Frame_Shift_Del_p.E580fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	580					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAGGAGCAAGAAAAAAAAAAG	0.468																																					Colon(19;451 567 6672 12618 28860)												1	Unknown(1)	skin(1)	12											98.0	96.0	97.0					12																	970297		2203	4300	6503	840558	SO:0001589	frameshift_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1739delA	12.37:g.970297delA	ENSP00000313059:p.Glu580fs		840558	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Del	DEL	ENST00000315939.6	37	CCDS8506.1																																																																																				0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979	
OR6C76	390326	hgsc.bcm.edu	37	12	55820959	55820959	+	Frame_Shift_Del	DEL	A	A	-	rs397719965|rs57387180		TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	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	
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	DEL	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	-			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chrUnknown:0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT								None (None upstream) : None (None downstream)																								0.0																																																	0			17																																								263631	SO:0001628	intergenic_variant	400566																															Unknown.37:g.0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT			263602		Frame_Shift_Del	DEL		37																																																																																				0	0								
KRTAP4-1	85285	hgsc.bcm.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																																	4	Deletion - In frame(4)	upper_aerodigestive_tract(2)|prostate(2)	17																																								36594378	SO:0001651	inframe_deletion	85285			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del		36594322	A8MWS7|Q3SYF2	Frame_Shift_Del	DEL	ENST00000398472.1	37																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060	
ABCA10	10349	hgsc.bcm.edu	37	17	67150465	67150466	+	Frame_Shift_Ins	INS	-	-	ACCTGGAA	rs137962621	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr17:67150465_67150466insACCTGGAA	ENST00000269081.4	-	32	4605_4606	c.3696_3697insTTCCAGGT	c.(3694-3699)ggtgaafs	p.E1233fs	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1233	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CCCAAAACTTCACCTGGAAGAA	0.361														564	0.11262	0.4047	0.0418	5008	,	,		15083	0.0		0.0	False		,,,				2504	0.0																0			17								1283,2979		212,859,1060						4.0	0.9		dbSNP_134	71	12,8242		0,12,4115	no	frameshift-near-splice	ABCA10	NM_080282.3		212,871,5175	A1A1,A1R,RR		0.1454,30.1032,10.3468				1295,11221				64662061	SO:0001589	frameshift_variant	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3696_3697insTTCCAGGT	17.37:g.67150466_67150473dupACCTGGAA	ENSP00000269081:p.Glu1233fs		64662060	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Frame_Shift_Ins	INS	ENST00000269081.4	37	CCDS11684.1																																																																																				0.361	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
PIGN	23556	hgsc.bcm.edu	37	18	59815501	59815501	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr18:59815501delA	ENST00000357637.5	-	8	1035	c.620delT	c.(619-621)ttcfs	p.F207fs	PIGN_ENST00000400334.3_Frame_Shift_Del_p.F207fs	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	207					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)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TAAATGTAAGAAAAAAACTAT	0.289																																																	0			18											31.0	29.0	30.0					18																	59815501		1737	3902	5639	57966481	SO:0001589	frameshift_variant	23556			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.620delT	18.37:g.59815501delA	ENSP00000350263:p.Phe207fs		57966481	Q7L8F8|Q8TC01|Q9NT05	Frame_Shift_Del	DEL	ENST00000357637.5	37	CCDS45879.1																																																																																				0.289	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787	
PLIN4	729359	hgsc.bcm.edu	37	19	4512860	4512958	+	In_Frame_Del	DEL	CAGACAGTGTTCTTGGTGCCAGTTAGGACAGTCTTGGTGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTA	CAGACAGTGTTCTTGGTGCCAGTTAGGACAGTCTTGGTGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTA	-	rs139077831|rs199944112|rs79662071|rs111683150|rs183054734|rs61730750|rs61730751|rs187432849|rs80098309|rs75031432|rs543991052|rs139917681|rs200699570|rs560475123|rs201080851|rs112609940|rs375080147|rs200149931|rs61730749|rs61731458|rs61731459|rs199854884|rs201827810|rs377602894|rs576203663	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	CAGACAGTGTTCTTGGTGCCAGTTAGGACAGTCTTGGTGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTA	CAGACAGTGTTCTTGGTGCCAGTTAGGACAGTCTTGGTGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr19:4512860_4512958delCAGACAGTGTTCTTGGTGCCAGTTAGGACAGTCTTGGTGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTA	ENST00000301286.3	-	3	971_1069	c.972_1070delTAGTGGGGTGACTGGTGCCATGAATGTGGCCAAAGGAACCATCCAGACCGGCGTGGACACCACCAAGACTGTCCTAACTGGCACCAAGAACACTGTCTG	c.(970-1071)tgtagtggggtgactggtgccatgaatgtggccaaaggaaccatccagaccggcgtggacaccaccaagactgtcctaactggcaccaagaacactgtctgc>tgc	p.324_357CSGVTGAMNVAKGTIQTGVDTTKTVLTGTKNTVC>C		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	324	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						CACCCCACTGCAGACAGTGTTCTTGGTGCCAGTTAGGACAGTCTTGGTGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGT	0.569																																																	0			19																																								4463958	SO:0001651	inframe_deletion	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.972_1070delTAGTGGGGTGACTGGTGCCATGAATGTGGCCAAAGGAACCATCCAGACCGGCGTGGACACCACCAAGACTGTCCTAACTGGCACCAAGAACACTGTCTG	19.37:g.4512860_4512958delCAGACAGTGTTCTTGGTGCCAGTTAGGACAGTCTTGGTGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTA	ENSP00000301286:p.Cys324_Val356del		4463860	A6NEI2	In_Frame_Del	DEL	ENST00000301286.3	37	CCDS45927.1																																																																																				0.569	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901	
RALY	22913	hgsc.bcm.edu	37	20	32664864	32664865	+	In_Frame_Ins	INS	-	-	CAG	rs10649600|rs57852506	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr20:32664864_32664865insCAG	ENST00000246194.3	+	8	1191_1192	c.689_690insCAG	c.(688-693)gccggc>gcCAGcggc	p.230_231AG>ASG	RALY_ENST00000375114.3_In_Frame_Ins_p.214_215AG>ASG	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	230	Epitope (recognized by BKRF1 antibodies).|Poly-Gly.			A -> AS (in Ref. 2; AAC28898). {ECO:0000305}.	mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GGAggtggcgccggcggcggcg	0.658																																																	0			20																																								32128526	SO:0001652	inframe_insertion	22913			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	Exception_encountered	20.37:g.32664864_32664865insCAG	ENSP00000246194:p.Ala230_Gly231insSer		32128525	Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	In_Frame_Ins	INS	ENST00000246194.3	37	CCDS13230.1																																																																																				0.658	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1		
C21orf58	54058	hgsc.bcm.edu	37	21	47721985	47721986	+	In_Frame_Ins	INS	-	-	TGG	rs144178764|rs112899928|rs35902237|rs71318063	byFrequency	TCGA-DC-6157-01A-11D-1657-10	TCGA-DC-6157-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3f20f4d7-029c-44bb-bc93-1ff5767a8e80	7f3e08e7-98d7-4cf5-9193-c0298d70926f	g.chr21:47721985_47721986insTGG	ENST00000291691.7	-	8	2032_2033	c.896_897insCCA	c.(895-897)cat>caCCAt	p.299_299H>HH	C21orf58_ENST00000472607.1_5'UTR|C21orf58_ENST00000397680.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397683.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397682.3_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397679.1_In_Frame_Ins_p.193_193H>HH	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	299	Poly-His.							p.H299_A300insH(3)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GCCACACAGCAtggtggtggtg	0.708														1382	0.275958	0.1384	0.4063	5008	,	,		16708	0.3046		0.3091	False		,,,				2504	0.3057																3	Insertion - In frame(3)	breast(2)|central_nervous_system(1)	21																																								46546414	SO:0001652	inframe_insertion	54058				CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.894_896dupCCA	21.37:g.47721992_47721994dupTGG	ENSP00000291691:p.His299dup		46546413	B3KPI1	In_Frame_Ins	INS	ENST00000291691.7	37	CCDS13735.1																																																																																				0.708	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207283.1	NM_058180	
