#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_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
DNAH11	8701	hgsc.bcm.edu	37	7	21778449	21778449	+	Silent	SNP	C	C	T	rs1109806	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:21778449C>T	ENST00000409508.3	+	47	7807	c.7776C>T	c.(7774-7776)caC>caT	p.H2592H	DNAH11_ENST00000328843.6_Silent_p.H2599H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2599	AAA 3. {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						TTCAGCCTCACACCCTGATCC	0.373									Kartagener syndrome				C|||	2702	0.539537	0.5923	0.5677	5008	,	,		15729	0.244		0.7048	False		,,,				2504	0.5828																0			7						C		2660,1692		844,972,360	45.0	46.0	46.0		7798	2.6	0.9	7	dbSNP_86	46	5930,2640		2061,1808,416	yes	coding-synonymous	DNAH11	NM_003777.3		2905,2780,776	TT,TC,CC		30.8051,38.8787,33.5242		2599/4524	21778449	8590,4332	2176	4285	6461	21744974	SO:0001819	synonymous_variant	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.7776C>T	7.37:g.21778449C>T		Somatic		Capture	Illumina HiSeq	Phase_I	21744974	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37																																																																																					DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
NPSR1	387129	hgsc.bcm.edu	37	7	34698057	34698057	+	Silent	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:34698057T>C	ENST00000360581.1	+	1	161	c.33T>C	c.(31-33)gaT>gaC	p.D11D	NPSR1_ENST00000465305.1_Silent_p.D11D|NPSR1_ENST00000531252.1_Silent_p.D11D|NPSR1_ENST00000381553.3_Silent_p.D11D|NPSR1_ENST00000359791.1_Silent_p.D11D|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Silent_p.D11D|NPSR1_ENST00000381539.3_Silent_p.D11D|AC005493.1_ENST00000399077.1_Intron	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	11						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GCAGCTTCGATTCCAGTGGGA	0.572																																																	0			7											103.0	92.0	96.0					7																	34698057		2203	4300	6503	34664582	SO:0001819	synonymous_variant	387129			AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.33T>C	7.37:g.34698057T>C		Somatic		Capture	Illumina HiSeq	Phase_I	34664582	A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Silent	SNP	ENST00000360581.1	37	CCDS5444.1																																																																																				NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173	
INHBA	3624	hgsc.bcm.edu	37	7	41729983	41729983	+	Silent	SNP	C	C	T	rs141733287		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:41729983C>T	ENST00000242208.4	-	3	792	c.546G>A	c.(544-546)ccG>ccA	p.P182P	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Silent_p.P182P|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	182					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGCTGCCCTGCGGGTGCTTCT	0.567										TSP Lung(11;0.080)																																							0			7											90.0	85.0	87.0					7																	41729983		2203	4300	6503	41696508	SO:0001819	synonymous_variant	3624				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.546G>A	7.37:g.41729983C>T		Somatic		Capture	Illumina HiSeq	Phase_I	41696508	Q14599	Silent	SNP	ENST00000242208.4	37	CCDS5464.1																																																																																				INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1		
AUTS2	26053	hgsc.bcm.edu	37	7	69583190	69583190	+	Missense_Mutation	SNP	C	C	T	rs139132240		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:69583190C>T	ENST00000342771.4	+	3	916	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	AUTS2_ENST00000406775.2_Missense_Mutation_p.R199W|AUTS2_ENST00000403018.2_Missense_Mutation_p.R199W	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	199										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGGCTTCCACCGGAGCAGCTC	0.433																																																	0			7						C	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	54.0	55.0	55.0		595,595,595	3.4	1.0	7	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	AUTS2	NM_001127231.1,NM_001127232.1,NM_015570.2	101,101,101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	199/1236,199/267,199/1260	69583190	2,13004	2203	4300	6503	69221126	SO:0001583	missense	282553			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.595C>T	7.37:g.69583190C>T	ENSP00000344087:p.Arg199Trp	Somatic		Capture	Illumina HiSeq	Phase_I	69221126	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360337	0.82353	2.27E-4	1.16E-4	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	T;T	0.34472	1.36;1.37	5.33	3.38	0.38709	.	0.000000	0.50627	D	0.000109	T	0.42245	0.1194	N	0.19112	0.55	0.36443	D	0.865627	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.43442	-0.9391	9	.	.	.	-15.1367	13.2239	0.59905	0.3784:0.6216:0.0:0.0	.	199;199;199	Q8WXX7-2;Q8WXX7;Q6PJU5	.;AUTS2_HUMAN;.	W	199	ENSP00000385263:R199W;ENSP00000344087:R199W	.	R	+	1	2	AUTS2	69221126	0.999000	0.42202	0.997000	0.53966	0.985000	0.73830	1.395000	0.34520	0.671000	0.31185	0.655000	0.94253	CGG		AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2		
AUTS2	26053	hgsc.bcm.edu	37	7	70233014	70233014	+	Missense_Mutation	SNP	A	A	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:70233014A>C	ENST00000342771.4	+	10	2015	c.1694A>C	c.(1693-1695)gAc>gCc	p.D565A	AUTS2_ENST00000406775.2_Missense_Mutation_p.D565A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	565										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TTACAGTTTGACAAATACCCT	0.413																																																	0			7											200.0	179.0	186.0					7																	70233014		2203	4300	6503	69870950	SO:0001583	missense	282553			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1694A>C	7.37:g.70233014A>C	ENSP00000344087:p.Asp565Ala	Somatic		Capture	Illumina HiSeq	Phase_I	69870950	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.469811	0.84533	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.51574	0.7;0.7	5.87	5.87	0.94306	.	0.226779	0.52532	D	0.000080	T	0.63604	0.2525	L	0.61036	1.89	0.80722	D	1	P;D;D	0.65815	0.925;0.995;0.995	P;P;P	0.61477	0.453;0.889;0.889	T	0.62690	-0.6801	9	.	.	.	-18.9418	16.2774	0.82651	1.0:0.0:0.0:0.0	.	17;565;565	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	A	565	ENSP00000385263:D565A;ENSP00000344087:D565A	.	D	+	2	0	AUTS2	69870950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.247000	0.74100	0.482000	0.46254	GAC		AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2		
HIP1	3092	hgsc.bcm.edu	37	7	75178262	75178262	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:75178262T>C	ENST00000336926.6	-	23	2359	c.2333A>G	c.(2332-2334)gAg>gGg	p.E778G	HIP1_ENST00000434438.2_Missense_Mutation_p.E778G	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	778	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTCCCCCAGCTCCTCCTGCTT	0.577			T	PDGFRB	CMML																																			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0			7											170.0	160.0	163.0					7																	75178262		2203	4300	6503	75016198	SO:0001583	missense	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2333A>G	7.37:g.75178262T>C	ENSP00000336747:p.Glu778Gly	Somatic		Capture	Illumina HiSeq	Phase_I	75016198	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	t	23.5	4.425199	0.83667	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.34072	1.38;1.38	4.77	4.77	0.60923	I/LWEQ (1);	0.000000	0.85682	D	0.000000	T	0.53834	0.1821	M	0.83118	2.625	0.58432	D	0.999995	D;B	0.58268	0.982;0.04	P;B	0.53224	0.721;0.035	T	0.62234	-0.6897	10	0.62326	D	0.03	-11.8227	13.1094	0.59265	0.0:0.0:0.0:1.0	.	778;778	E7ES17;O00291	.;HIP1_HUMAN	G	778	ENSP00000336747:E778G;ENSP00000410300:E778G	ENSP00000336747:E778G	E	-	2	0	HIP1	75016198	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.865000	0.69583	1.786000	0.52430	0.459000	0.35465	GAG		HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338	
DTX2	113878	hgsc.bcm.edu	37	7	76111835	76111835	+	Silent	SNP	G	G	A	rs4236506	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:76111835G>A	ENST00000324432.5	+	5	789	c.279G>A	c.(277-279)cgG>cgA	p.R93R	DTX2_ENST00000446600.1_Silent_p.R2R|DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000430490.2_Silent_p.R93R|DTX2_ENST00000307569.8_Silent_p.R93R|DTX2_ENST00000446820.2_Silent_p.R93R|DTX2_ENST00000413936.2_Silent_p.R93R	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	93	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GCACCATGCGGGCTGTGCGGA	0.527													.|||	1130	0.225639	0.1256	0.2767	5008	,	,		19820	0.2302		0.2495	False		,,,				2504	0.2955																0			7						G	,,,	640,3766		48,544,1611	83.0	87.0	85.0		279,279,279,279	1.0	1.0	7	dbSNP_111	85	1989,6611		241,1507,2552	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DTX2	NM_001102594.1,NM_001102595.1,NM_001102596.1,NM_020892.2	,,,	289,2051,4163	AA,AG,GG		23.1279,14.5256,20.2137	,,,	93/623,93/623,93/576,93/623	76111835	2629,10377	2203	4300	6503	75949771	SO:0001819	synonymous_variant	113878				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.279G>A	7.37:g.76111835G>A		Somatic		Capture	Illumina HiSeq	Phase_I	75949771	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	CCDS5587.1																																																																																				DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2		
SEMA3D	223117	hgsc.bcm.edu	37	7	84628989	84628989	+	Missense_Mutation	SNP	T	T	G	rs7800072	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:84628989T>G	ENST00000284136.6	-	17	2144	c.2101A>C	c.(2101-2103)Aag>Cag	p.K701Q	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	701			K -> Q (in dbSNP:rs7800072). {ECO:0000269|PubMed:12975309}.		cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCCTTGACCTTCCCCTCCTCA	0.473													G|||	1430	0.285543	0.351	0.2421	5008	,	,		17893	0.2718		0.3201	False		,,,				2504	0.2065				Ovarian(63;442 1191 17318 29975 31528)												0			7						G	GLN/LYS	1642,2764	659.1+/-400.5	314,1014,875	144.0	119.0	128.0		2101	3.8	1.0	7	dbSNP_116	128	2814,5786	676.5+/-403.3	459,1896,1945	yes	missense	SEMA3D	NM_152754.2	53	773,2910,2820	GG,GT,TT		32.7209,37.2674,34.2611	benign	701/778	84628989	4456,8550	2203	4300	6503	84466925	SO:0001583	missense	223117			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2101A>C	7.37:g.84628989T>G	ENSP00000284136:p.Lys701Gln	Somatic		Capture	Illumina HiSeq	Phase_I	84466925	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	667	0.30540293040293043	191	0.3882113821138211	94	0.2596685082872928	139	0.243006993006993	243	0.32058047493403696	G	5.817	0.334982	0.11013	0.372674	0.327209	ENSG00000153993	ENST00000284136	T	0.30981	1.51	5.73	3.82	0.43975	.	0.959042	0.08767	N	0.896847	T	0.00012	0.0000	N	0.19112	0.55	0.09310	P	0.999999611851	B	0.02656	0.0	B	0.01281	0.0	T	0.44620	-0.9316	9	0.13108	T	0.6	.	15.0253	0.71667	0.0:0.0:0.6279:0.3721	rs7800072;rs10365892;rs7800072	701	O95025	SEM3D_HUMAN	Q	701	ENSP00000284136:K701Q	ENSP00000284136:K701Q	K	-	1	0	SEMA3D	84466925	0.865000	0.29922	0.998000	0.56505	0.986000	0.74619	1.502000	0.35704	0.759000	0.33084	-0.121000	0.15023	AAG		SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
SEMA3D	223117	hgsc.bcm.edu	37	7	84685072	84685072	+	Silent	SNP	G	G	A	rs552162067	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:84685072G>A	ENST00000284136.6	-	7	865	c.822C>T	c.(820-822)tcC>tcT	p.S274S	SEMA3D_ENST00000444867.1_Silent_p.S274S	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	274	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGGTTTTATCGGAGGTACTGC	0.274													G|||	10	0.00199681	0.0	0.0	5008	,	,		9233	0.0		0.0	False		,,,				2504	0.0102				Ovarian(63;442 1191 17318 29975 31528)												0			7											65.0	65.0	65.0					7																	84685072		2202	4300	6502	84523008	SO:0001819	synonymous_variant	223117			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.822C>T	7.37:g.84685072G>A		Somatic		Capture	Illumina HiSeq	Phase_I	84523008	A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	CCDS34676.1																																																																																				SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
GRM3	2913	hgsc.bcm.edu	37	7	86415812	86415812	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:86415812G>A	ENST00000361669.2	+	3	1803	c.704G>A	c.(703-705)cGc>cAc	p.R235H	GRM3_ENST00000536043.1_Missense_Mutation_p.R107H|GRM3_ENST00000439827.1_Missense_Mutation_p.R235H|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.R233H|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	235					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CAGGAAGCCCGCCTGCGCAAC	0.597																																					GBM(52;969 1098 3139 52280)												0			7											55.0	52.0	53.0					7																	86415812		2203	4300	6503	86253748	SO:0001583	missense	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.704G>A	7.37:g.86415812G>A	ENSP00000355316:p.Arg235His	Somatic		Capture	Illumina HiSeq	Phase_I	86253748	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619381	0.87460	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.72	4.83	0.62350	Extracellular ligand-binding receptor (1);	0.051376	0.85682	D	0.000000	D	0.93223	0.7841	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.75020	0.975;0.907;0.985	D	0.94386	0.7609	10	0.72032	D	0.01	.	15.8198	0.78631	0.0:0.1361:0.8639:0.0	.	107;235;235	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	H	235;107;107;235;233	ENSP00000355316:R235H;ENSP00000405427:R107H;ENSP00000441407:R107H;ENSP00000398767:R235H;ENSP00000378209:R233H	ENSP00000355316:R235H	R	+	2	0	GRM3	86253748	1.000000	0.71417	0.370000	0.25965	0.990000	0.78478	9.756000	0.98918	1.400000	0.46741	0.655000	0.94253	CGC		GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		
CALCR	799	hgsc.bcm.edu	37	7	93108737	93108737	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:93108737C>T	ENST00000394441.1	-	3	449	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	CALCR_ENST00000359558.2_Missense_Mutation_p.R63Q|CALCR_ENST00000360249.4_Missense_Mutation_p.R45Q|CALCR_ENST00000421592.1_Missense_Mutation_p.R45Q|CALCR_ENST00000426151.1_Missense_Mutation_p.R45Q	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	63					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CATCTTCTTTCGTCCTACGAC	0.403																																																	0			7											246.0	228.0	234.0					7																	93108737		2203	4300	6503	92946673	SO:0001583	missense	799			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.134G>A	7.37:g.93108737C>T	ENSP00000377959:p.Arg45Gln	Somatic		Capture	Illumina HiSeq	Phase_I	92946673	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.176800	0.38413	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.21	2.38	0.29361	.	.	.	.	.	T	0.40498	0.1119	L	0.56769	1.78	0.09310	N	0.999999	P;B	0.35982	0.531;0.396	B;B	0.30179	0.112;0.042	T	0.22173	-1.0224	9	0.30854	T	0.27	.	4.4219	0.11484	0.0:0.5602:0.1636:0.2763	.	63;45	F5H605;A4D1G6	.;.	Q	63;45;45;45;45;45	ENSP00000352561:R63Q;ENSP00000353385:R45Q;ENSP00000399552:R45Q;ENSP00000377959:R45Q;ENSP00000389295:R45Q	ENSP00000352561:R63Q	R	-	2	0	CALCR	92946673	0.009000	0.17119	0.001000	0.08648	0.040000	0.13550	1.047000	0.30367	0.426000	0.26116	0.650000	0.86243	CGA		CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	
DLX5	1749	hgsc.bcm.edu	37	7	96653816	96653816	+	Silent	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:96653816A>G	ENST00000222598.4	-	1	593	c.120T>C	c.(118-120)tcT>tcC	p.S40S	DLX5_ENST00000486603.2_Silent_p.S40S|DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	40					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	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)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CGGTAGCTGAAGACTCGGGCA	0.602																																																	0			7											53.0	58.0	56.0					7																	96653816		2203	4300	6503	96491752	SO:0001819	synonymous_variant	1749				CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.120T>C	7.37:g.96653816A>G		Somatic		Capture	Illumina HiSeq	Phase_I	96491752	B7Z4P3|Q9UPL1	Silent	SNP	ENST00000222598.4	37	CCDS5647.1																																																																																				DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2		
ZAN	7455	hgsc.bcm.edu	37	7	100366320	100366320	+	RNA	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:100366320A>G	ENST00000348028.3	+	0	5294				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K1710M(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCCGCCTGGAAGTTACCTGAA	0.627																																																	1	Substitution - Missense(1)	ovary(1)	7											19.0	19.0	19.0					7																	100366320		1863	4088	5951	100204256			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100366320A>G		Somatic		Capture	Illumina HiSeq	Phase_I	100204256	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	A	13.75	2.330833	0.41297	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.25912	2.32;2.31;2.29;1.77	4.62	0.246	0.15516	von Willebrand factor, type D domain (1);	0.657454	0.13404	N	0.390435	T	0.18593	0.0446	L	0.46157	1.445	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.21449	-1.0245	10	0.45353	T	0.12	.	4.0425	0.09758	0.3681:0.0:0.1049:0.527	.	1710;1710	F5H0T8;Q9Y493	.;ZAN_HUMAN	R	1710;1710;1710;287	ENSP00000445943:K1710R;ENSP00000445091:K1710R;ENSP00000444427:K1710R;ENSP00000441117:K287R	ENSP00000423579:K1710R	K	+	2	0	ZAN	100204256	0.047000	0.20315	0.267000	0.24556	0.029000	0.11900	0.023000	0.13533	0.025000	0.15241	-0.301000	0.09380	AAG		ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
MUC17	140453	hgsc.bcm.edu	37	7	100679902	100679902	+	Silent	SNP	A	A	G	rs55974941	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:100679902A>G	ENST00000306151.4	+	3	5269	c.5205A>G	c.(5203-5205)gaA>gaG	p.E1735E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1735	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.E1735E(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTTCTGAAGGTACCAGCA	0.512													a|||	1933	0.385982	0.1392	0.3372	5008	,	,		24828	0.5595		0.4861	False		,,,				2504	0.4724																1	Substitution - coding silent(1)	stomach(1)	7						A		858,3548	336.3+/-304.3	91,676,1436	252.0	259.0	256.0		5205	-1.6	0.0	7	dbSNP_129	256	4211,4389	570.1+/-389.3	1030,2151,1119	no	coding-synonymous	MUC17	NM_001040105.1		1121,2827,2555	GG,GA,AA		48.9651,19.4734,38.9743		1735/4494	100679902	5069,7937	2203	4300	6503	100466622	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5205A>G	7.37:g.100679902A>G		Somatic		Capture	Illumina HiSeq	Phase_I	100466622	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
TRIM56	81844	hgsc.bcm.edu	37	7	100731829	100731829	+	Silent	SNP	T	T	C	rs6948536	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:100731829T>C	ENST00000306085.6	+	3	1533	c.1236T>C	c.(1234-1236)gcT>gcC	p.A412A		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	412					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCCCCAGGCTGGAGATGGAG	0.632													C|||	3548	0.708466	0.9614	0.5418	5008	,	,		15987	0.5496		0.7455	False		,,,				2504	0.6104				Ovarian(89;1092 1379 22756 38989 39611)												0			7						C		3809,297		1776,257,20	50.0	67.0	62.0		1236	-7.1	0.0	7	dbSNP_116	62	6223,2179		2318,1587,296	no	coding-synonymous	TRIM56	NM_030961.1		4094,1844,316	CC,CT,TT		25.9343,7.2333,19.7953		412/756	100731829	10032,2476	2053	4201	6254	100518549	SO:0001819	synonymous_variant	81844			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1236T>C	7.37:g.100731829T>C		Somatic		Capture	Illumina HiSeq	Phase_I	100518549	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	CCDS43625.1																																																																																				TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961	
RELN	5649	hgsc.bcm.edu	37	7	103214611	103214611	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:103214611C>G	ENST00000428762.1	-	30	4598	c.4439G>C	c.(4438-4440)gGc>gCc	p.G1480A	RELN_ENST00000343529.5_Missense_Mutation_p.G1480A|RELN_ENST00000424685.2_Missense_Mutation_p.G1480A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1480					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAGAGATTTGCCATCGTTAAG	0.483																																					NSCLC(146;835 1944 15585 22231 52158)												0			7											147.0	134.0	139.0					7																	103214611		2203	4300	6503	103001847	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4439G>C	7.37:g.103214611C>G	ENSP00000392423:p.Gly1480Ala	Somatic		Capture	Illumina HiSeq	Phase_I	103001847	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853377	0.91355	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.43688	1.75;0.94;1.75	5.62	5.62	0.85841	.	0.105878	0.64402	D	0.000004	T	0.66519	0.2797	M	0.76170	2.325	0.80722	D	1	P;D	0.89917	0.782;1.0	P;D	0.72625	0.469;0.978	T	0.64719	-0.6341	10	0.46703	T	0.11	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	1480;1480	P78509-2;P78509	.;RELN_HUMAN	A	1480	ENSP00000392423:G1480A;ENSP00000345694:G1480A;ENSP00000388446:G1480A	ENSP00000345694:G1480A	G	-	2	0	RELN	103001847	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	5.717000	0.68446	2.809000	0.96659	0.655000	0.94253	GGC		RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
IFRD1	3475	hgsc.bcm.edu	37	7	112112899	112112899	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:112112899A>G	ENST00000403825.3	+	11	1510	c.1249A>G	c.(1249-1251)Att>Gtt	p.I417V	IFRD1_ENST00000005558.4_Missense_Mutation_p.I417V|IFRD1_ENST00000535603.1_Missense_Mutation_p.I367V	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	417					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AACGATGAAGATTTCTCGTTT	0.378																																																	0			7											122.0	125.0	124.0					7																	112112899		2203	4300	6503	111900135	SO:0001583	missense	3475			Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.1249A>G	7.37:g.112112899A>G	ENSP00000384477:p.Ile417Val	Somatic		Capture	Illumina HiSeq	Phase_I	111900135	B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.373053	0.42105	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000536259;ENST00000535603;ENST00000462155	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.81	5.81	0.92471	Interferon-related developmental regulator, C-terminal (1);	0.103669	0.64402	D	0.000003	T	0.37461	0.1004	L	0.47716	1.5	0.42674	D	0.993523	B;B	0.28713	0.22;0.22	B;B	0.33392	0.163;0.163	T	0.23297	-1.0192	10	0.30854	T	0.27	-32.4626	10.2108	0.43138	0.9251:0.0:0.0749:0.0	.	417;417	A4D0U1;O00458	.;IFRD1_HUMAN	V	417;417;152;367;80	ENSP00000005558:I417V;ENSP00000384477:I417V;ENSP00000439188:I367V;ENSP00000435635:I80V	ENSP00000005558:I417V	I	+	1	0	IFRD1	111900135	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.782000	0.75073	2.221000	0.72209	0.519000	0.50382	ATT		IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550	
SLC13A4	26266	hgsc.bcm.edu	37	7	135406176	135406176	+	Silent	SNP	A	A	G	rs4596594	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:135406176A>G	ENST00000354042.4	-	2	884	c.195T>C	c.(193-195)ctT>ctC	p.L65L		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	65					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						AGAACGGGTAAAGGAAGGCCG	0.617													G|||	2255	0.45028	0.5091	0.3184	5008	,	,		19216	0.4435		0.4553	False		,,,				2504	0.4663																0			7						G		2277,2129	577.0+/-384.4	599,1079,525	51.0	44.0	46.0		195	3.4	1.0	7	dbSNP_111	46	3942,4658	601.1+/-394.3	917,2108,1275	no	coding-synonymous	SLC13A4	NM_012450.2		1516,3187,1800	GG,GA,AA		45.8372,48.3205,47.8164		65/627	135406176	6219,6787	2203	4300	6503	135056716	SO:0001819	synonymous_variant	26266			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.195T>C	7.37:g.135406176A>G		Somatic		Capture	Illumina HiSeq	Phase_I	135056716	A4D1Q4|Q8N631	Silent	SNP	ENST00000354042.4	37	CCDS5840.1																																																																																				SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450	
BRAF	673	hgsc.bcm.edu	37	7	140453170	140453170	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:140453170T>C	ENST00000288602.6	-	15	1825	c.1765A>G	c.(1765-1767)Aca>Gca	p.T589A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	589	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ATTTTTACTGTGAGGTCTTCA	0.383		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0			7											98.0	94.0	95.0					7																	140453170		2203	4300	6503	140099639	SO:0001583	missense	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1765A>G	7.37:g.140453170T>C	ENSP00000288602:p.Thr589Ala	Somatic		Capture	Illumina HiSeq	Phase_I	140099639	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.616302	0.87359	.	.	ENSG00000157764	ENST00000288602	D	0.98958	-5.27	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98451	0.9484	L	0.49640	1.575	0.80722	D	1	P	0.35780	0.52	P	0.51701	0.677	D	0.99846	1.1066	10	0.87932	D	0	.	15.9326	0.79675	0.0:0.0:0.0:1.0	.	589	P15056	BRAF_HUMAN	A	589	ENSP00000288602:T589A	ENSP00000288602:T589A	T	-	1	0	BRAF	140099639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.921000	0.87530	2.169000	0.68431	0.529000	0.55759	ACA		BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
KMT2C	58508	hgsc.bcm.edu	37	7	151962211	151962211	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr7:151962211A>G	ENST00000262189.6	-	8	1314	c.1096T>C	c.(1096-1098)Tat>Cat	p.Y366H	KMT2C_ENST00000355193.2_Missense_Mutation_p.Y366H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	366					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATTCCATGATAGTGCTGACCA	0.448																																																	0			7											389.0	349.0	362.0					7																	151962211		2203	4300	6503	151593144	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1096T>C	7.37:g.151962211A>G	ENSP00000262189:p.Tyr366His	Somatic		Capture	Illumina HiSeq	Phase_I	151593144	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024678	0.35701	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.99089	-5.41;-5.41	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.38111	U	0.001814	D	0.99180	0.9716	M	0.81682	2.555	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.99406	1.0929	10	0.87932	D	0	.	14.395	0.67005	1.0:0.0:0.0:0.0	.	366	Q8NEZ4	MLL3_HUMAN	H	366	ENSP00000262189:Y366H;ENSP00000347325:Y366H	ENSP00000262189:Y366H	Y	-	1	0	MLL3	151593144	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	9.287000	0.95975	1.843000	0.53566	0.455000	0.32223	TAT		KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
FAM110A	83541	hgsc.bcm.edu	37	20	825678	825678	+	Silent	SNP	T	T	C	rs538094	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr20:825678T>C	ENST00000304189.2	+	3	612	c.231T>C	c.(229-231)ttT>ttC	p.F77F	FAM110A_ENST00000381939.1_Silent_p.F77F|FAM110A_ENST00000381941.3_Silent_p.F77F|FAM110A_ENST00000541082.1_Silent_p.F77F|FAM110A_ENST00000246100.3_Silent_p.F77F			Q9BQ89	F110A_HUMAN	family with sequence similarity 110, member A	77						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|lung(2)	3						AGCCGCTCTTTAGCCCTGAGA	0.682													T|||	4132	0.82508	0.7678	0.8934	5008	,	,		11354	0.8829		0.8708	False		,,,				2504	0.7474																0			20						T	,,	3401,977		1331,739,119	14.0	15.0	14.0		231,231,231	-0.4	1.0	20	dbSNP_83	14	7450,1122		3241,968,77	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM110A	NM_001042353.1,NM_031424.4,NM_207121.3	,,	4572,1707,196	CC,CT,TT		13.0891,22.3161,16.2085	,,	77/296,77/296,77/296	825678	10851,2099	2189	4286	6475	773678	SO:0001819	synonymous_variant	83541			BC012800	CCDS13008.1	20p13	2007-06-21	2007-03-21	2007-03-21	ENSG00000125898	ENSG00000125898			16188	protein-coding gene	gene with protein product		611393	"""chromosome 20 open reading frame 55"""	C20orf55		17499476	Standard	NM_001042353		Approved	bA371L19.3	uc002wef.1	Q9BQ89	OTTHUMG00000031649	ENST00000304189.2:c.231T>C	20.37:g.825678T>C		Somatic		Capture	Illumina HiSeq	Phase_I	773678	D3DVW2|Q5R1M7	Silent	SNP	ENST00000304189.2	37	CCDS13008.1																																																																																				FAM110A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077489.1	NM_031424	
RAD21L1	642636	hgsc.bcm.edu	37	20	1212260	1212260	+	Missense_Mutation	SNP	T	T	C	rs201688927		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr20:1212260T>C	ENST00000409241.1	+	4	458	c.365T>C	c.(364-366)aTg>aCg	p.M122T	RAD21L1_ENST00000402452.1_Missense_Mutation_p.M122T|RAD21L1_ENST00000381882.2_Missense_Mutation_p.M122T|RAD21L1_ENST00000477283.1_3'UTR	NM_001136566.2	NP_001130038.2	Q9H4I0	RD21L_HUMAN	RAD21-like 1 (S. pombe)	122					attachment of telomeric heterochromatin to nuclear envelope (GO:0070197)|chromosome segregation (GO:0007059)|double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				NS(1)|breast(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	7						ACCCAAAATATGAAGTAAAAT	0.279													T|||	1	0.000199681	0.0	0.0	5008	,	,		15901	0.0		0.001	False		,,,				2504	0.0																0			20											40.0	32.0	35.0					20																	1212260		692	1587	2279	1160260	SO:0001583	missense	642636			AL031665	CCDS46568.1	20p13	2011-08-12			ENSG00000244588	ENSG00000244588			16271	protein-coding gene	gene with protein product							Standard	NM_001136566		Approved	dJ545L17.2, RAD21L	uc010gab.1	Q9H4I0	OTTHUMG00000031664	ENST00000409241.1:c.365T>C	20.37:g.1212260T>C	ENSP00000386414:p.Met122Thr	Somatic		Capture	Illumina HiSeq	Phase_I	1160260	B2RXL0|B7ZBB1|B7ZW76|Q5W0X5	Missense_Mutation	SNP	ENST00000409241.1	37	CCDS46568.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.464222	0.26335	.	.	ENSG00000244588	ENST00000402452;ENST00000409241;ENST00000381882	T;T;T	0.50548	0.98;0.74;0.98	4.78	3.65	0.41850	.	0.782491	0.11455	N	0.562338	T	0.22820	0.0551	N	0.02011	-0.69	0.25390	N	0.988539	B	0.02656	0.0	B	0.01281	0.0	T	0.17077	-1.0381	10	0.49607	T	0.09	.	9.3176	0.37943	0.0:0.0842:0.0:0.9158	.	122	Q9H4I0	RD21L_HUMAN	T	122	ENSP00000385925:M122T;ENSP00000386414:M122T;ENSP00000371306:M122T	ENSP00000371306:M122T	M	+	2	0	RAD21L1	1160260	1.000000	0.71417	0.997000	0.53966	0.690000	0.40134	2.777000	0.47717	0.910000	0.36722	0.533000	0.62120	ATG		RAD21L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334022.1		
CST1	1469	hgsc.bcm.edu	37	20	23728528	23728528	+	Silent	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr20:23728528C>T	ENST00000304749.2	-	3	421	c.351G>A	c.(349-351)ttG>ttA	p.L117L	CST1_ENST00000398402.1_Silent_p.L117L	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	117					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.L117L(1)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CGAAAGAGCACAACTGTTTCT	0.527																																																	1	Substitution - coding silent(1)	lung(1)	20											93.0	81.0	85.0					20																	23728528		2203	4300	6503	23676528	SO:0001819	synonymous_variant	1469			M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.351G>A	20.37:g.23728528C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23676528	Q96LE6|Q9UCQ6	Silent	SNP	ENST00000304749.2	37	CCDS13160.1																																																																																				CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898	
ASXL1	171023	hgsc.bcm.edu	37	20	31023710	31023710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr20:31023710G>A	ENST00000375687.4	+	13	3619	c.3195G>A	c.(3193-3195)tgG>tgA	p.W1065*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.W1060*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1065					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTCAGAGCTGGGTGTCTCGAG	0.547			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0			20											179.0	143.0	155.0					20																	31023710		2203	4300	6503	30487371	SO:0001587	stop_gained	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3195G>A	20.37:g.31023710G>A	ENSP00000364839:p.Trp1065*	Somatic		Capture	Illumina HiSeq	Phase_I	30487371	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	43	10.011113	0.99317	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	4.17	4.17	0.49024	.	0.295841	0.36778	N	0.002407	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-8.028	15.9282	0.79635	0.0:0.0:1.0:0.0	.	.	.	.	X	1065;1065;1065;986;1060	.	ENSP00000305119:W1060X	W	+	3	0	ASXL1	30487371	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.967000	0.49216	2.614000	0.88457	0.561000	0.74099	TGG		ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
FAM83C	128876	hgsc.bcm.edu	37	20	33875030	33875030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr20:33875030G>A	ENST00000374408.3	-	4	1648	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	518										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCCACTTCTCGGGCTCTGGGG	0.637																																																	0			20											47.0	47.0	47.0					20																	33875030		2123	4196	6319	33338444	SO:0001587	stop_gained	128876			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1552C>T	20.37:g.33875030G>A	ENSP00000363529:p.Arg518*	Somatic		Capture	Illumina HiSeq	Phase_I	33338444	Q14D67|Q5JWN6|Q8N276	Nonsense_Mutation	SNP	ENST00000374408.3	37	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800929	0.90538	.	.	ENSG00000125998	ENST00000374408	.	.	.	4.14	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-16.1375	6.5978	0.22683	0.0:0.1894:0.5881:0.2225	.	.	.	.	X	518	.	ENSP00000363529:R518X	R	-	1	2	FAM83C	33338444	0.994000	0.37717	0.986000	0.45419	0.772000	0.43724	1.735000	0.38176	0.433000	0.26313	0.561000	0.74099	CGA		FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3		
ATP9A	10079	hgsc.bcm.edu	37	20	50310638	50310638	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr20:50310638G>A	ENST00000338821.5	-	7	815	c.551C>T	c.(550-552)tCa>tTa	p.S184L	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	184					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S184L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CAAGAAGCATGACCCTGTGGA	0.632																																																	1	Substitution - Missense(1)	ovary(1)	20											55.0	50.0	51.0					20																	50310638		2203	4300	6503	49744045	SO:0001583	missense	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.551C>T	20.37:g.50310638G>A	ENSP00000342481:p.Ser184Leu	Somatic		Capture	Illumina HiSeq	Phase_I	49744045	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140081	0.94560	.	.	ENSG00000054793	ENST00000338821	D	0.91631	-2.88	5.04	5.04	0.67666	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.90539	0.7035	N	0.17631	0.505	0.80722	D	1	D	0.56287	0.975	P	0.56088	0.791	D	0.88285	0.2939	10	0.17369	T	0.5	-21.8079	18.3987	0.90509	0.0:0.0:1.0:0.0	.	184	O75110	ATP9A_HUMAN	L	184	ENSP00000342481:S184L	ENSP00000342481:S184L	S	-	2	0	ATP9A	49744045	1.000000	0.71417	0.956000	0.39512	0.741000	0.42261	9.368000	0.97152	2.329000	0.79093	0.655000	0.94253	TCA		ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045	
CHEK2	11200	hgsc.bcm.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																															yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	9	Substitution - Missense(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	22																																								27421840	SO:0001583	missense	11200			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu	Somatic		Capture	Illumina HiSeq	Phase_I	27421840	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735	
NF2	4771	hgsc.bcm.edu	37	22	30050666	30050666	+	Silent	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr22:30050666T>C	ENST00000338641.4	+	5	909	c.468T>C	c.(466-468)agT>agC	p.S156S	NF2_ENST00000334961.7_Silent_p.S73S|NF2_ENST00000361676.4_Silent_p.S114S|NF2_ENST00000413209.2_Intron|NF2_ENST00000397789.3_Silent_p.S156S|NF2_ENST00000353887.4_Silent_p.S73S|NF2_ENST00000403435.1_Silent_p.S156S|NF2_ENST00000347330.5_Intron|NF2_ENST00000361452.4_Silent_p.S115S|NF2_ENST00000361166.4_Silent_p.S156S|NF2_ENST00000403999.3_Silent_p.S156S	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	156	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.S156R(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						ACGACCCCAGTGTTCACAAGC	0.433			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																														yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	4	Unknown(3)|Substitution - Missense(1)	meninges(1)|large_intestine(1)|stomach(1)|central_nervous_system(1)	22											156.0	158.0	158.0					22																	30050666		2203	4300	6503	28380666	SO:0001819	synonymous_variant	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.468T>C	22.37:g.30050666T>C		Somatic		Capture	Illumina HiSeq	Phase_I	28380666	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Silent	SNP	ENST00000338641.4	37	CCDS13861.1																																																																																				NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	
APOL6	80830	hgsc.bcm.edu	37	22	36055398	36055398	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr22:36055398G>A	ENST00000409652.4	+	3	1063	c.787G>A	c.(787-789)Gca>Aca	p.A263T		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	263					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						GAAGGAAGGAGCAAGGACAAA	0.527																																																	0			22											80.0	76.0	77.0					22																	36055398		2203	4300	6503	34385344	SO:0001583	missense	80830			AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"""Apolipoproteins"""	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.787G>A	22.37:g.36055398G>A	ENSP00000386280:p.Ala263Thr	Somatic		Capture	Illumina HiSeq	Phase_I	34385344	Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Missense_Mutation	SNP	ENST00000409652.4	37	CCDS13919.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855199	0.32791	.	.	ENSG00000221963	ENST00000409652	T	0.04917	3.53	4.38	0.475	0.16774	.	0.885835	0.09576	N	0.783573	T	0.09818	0.0241	M	0.76002	2.32	0.09310	N	1	B	0.14012	0.009	B	0.19666	0.026	T	0.30119	-0.9989	10	0.52906	T	0.07	-17.2031	7.1954	0.25849	0.3523:0.0:0.6477:0.0	.	263	Q9BWW8	APOL6_HUMAN	T	263	ENSP00000386280:A263T	ENSP00000386280:A263T	A	+	1	0	APOL6	34385344	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	0.231000	0.17872	0.073000	0.16731	-0.136000	0.14681	GCA		APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641	
TMPRSS6	164656	hgsc.bcm.edu	37	22	37480817	37480817	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr22:37480817A>G	ENST00000346753.3	-	9	1179	c.1063T>C	c.(1063-1065)Tac>Cac	p.Y355H	TMPRSS6_ENST00000442782.2_Missense_Mutation_p.Y355H|RP5-1170K4.7_ENST00000414203.2_RNA|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.Y346H|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.Y346H|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.Y346H	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	355	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGGGGAAGTACGGGGTGCTG	0.642																																																	0			22											86.0	72.0	77.0					22																	37480817		2199	4290	6489	35810763	SO:0001583	missense	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1063T>C	22.37:g.37480817A>G	ENSP00000334962:p.Tyr355His	Somatic		Capture	Illumina HiSeq	Phase_I	35810763	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	a	11.37	1.618980	0.28801	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000429068;ENST00000442782	T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14	4.52	3.49	0.39957	CUB (4);	0.252955	0.33712	N	0.004638	T	0.16769	0.0403	L	0.43152	1.355	0.36265	D	0.854783	B;B;B	0.14438	0.01;0.003;0.001	B;B;B	0.13407	0.009;0.003;0.001	T	0.08638	-1.0712	10	0.45353	T	0.12	.	7.0904	0.25282	0.7963:0.0:0.2037:0.0	.	355;346;355	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	H	346;355;346;346;17;355	ENSP00000371211:Y346H;ENSP00000334962:Y355H;ENSP00000385453:Y346H;ENSP00000384964:Y346H;ENSP00000392433:Y17H;ENSP00000397691:Y355H	ENSP00000334962:Y355H	Y	-	1	0	TMPRSS6	35810763	0.996000	0.38824	0.740000	0.30986	0.652000	0.38707	3.384000	0.52478	0.597000	0.29811	0.456000	0.33151	TAC		TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609	
IL17REL	400935	hgsc.bcm.edu	37	22	50437751	50437751	+	Silent	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr22:50437751C>T	ENST00000389983.2	-	9	834	c.570G>A	c.(568-570)gcG>gcA	p.A190A	IL17REL_ENST00000341280.5_Silent_p.A190A	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	190										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GGATCCGCACCGCGTCAGGGG	0.667																																																	0			22											63.0	65.0	64.0					22																	50437751		2203	4300	6503	48779878	SO:0001819	synonymous_variant	400935			AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.570G>A	22.37:g.50437751C>T		Somatic		Capture	Illumina HiSeq	Phase_I	48779878	A6NCN4|A6PVC1	Silent	SNP	ENST00000389983.2	37	CCDS33679.1																																																																																				IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694	
KHNYN	23351	hgsc.bcm.edu	37	14	24901249	24901249	+	Missense_Mutation	SNP	A	A	C	rs3742520	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr14:24901249A>C	ENST00000251343.5	+	3	921	c.782A>C	c.(781-783)aAa>aCa	p.K261T	KHNYN_ENST00000556842.1_Missense_Mutation_p.K261T|CBLN3_ENST00000267406.6_5'Flank|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.K261T			O15037	KHNYN_HUMAN	KH and NYN domain containing	261			K -> T (in dbSNP:rs3742520). {ECO:0000269|PubMed:9205841}.				RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAGGGAGGGAAACAGGGTGGT	0.617											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	2029	0.405152	0.0552	0.5807	5008	,	,		19821	0.5208		0.5636	False		,,,				2504	0.4714																0			14						A	THR/LYS	573,3833	252.4+/-258.8	39,495,1669	95.0	92.0	93.0		782	2.3	0.0	14	dbSNP_107	93	4661,3939	600.9+/-394.3	1282,2097,921	yes	missense	KHNYN	NM_015299.2	78	1321,2592,2590	CC,CA,AA		45.8023,13.005,40.243	possibly-damaging	261/679	24901249	5234,7772	2203	4300	6503	23971089	SO:0001583	missense	0			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.782A>C	14.37:g.24901249A>C	ENSP00000251343:p.Lys261Thr	Somatic	774	Capture	Illumina HiSeq	Phase_I	23971089	Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	CCDS32058.1	979	0.4482600732600733	43	0.08739837398373984	202	0.5580110497237569	301	0.5262237762237763	433	0.5712401055408971	A	5.982	0.365043	0.11296	0.13005	0.541977	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.25414	1.8;1.8;1.8	4.7	2.28	0.28536	.	0.215138	0.14362	U	0.324384	T	0.00012	0.0000	L	0.27053	0.805	0.49915	P	1.6099999999996673E-4	B;B	0.18461	0.028;0.015	B;B	0.12156	0.007;0.007	T	0.39482	-0.9612	9	0.66056	D	0.02	.	3.8544	0.08968	0.711:0.0:0.1029:0.1861	rs3742520;rs57351660;rs3742520	302;261	D3DS77;O15037	.;KHNYN_HUMAN	T	261	ENSP00000251343:K261T;ENSP00000451106:K261T;ENSP00000450799:K261T	ENSP00000251343:K261T	K	+	2	0	KHNYN	23971089	0.887000	0.30362	0.048000	0.18961	0.168000	0.22595	1.941000	0.40233	0.182000	0.20032	0.460000	0.39030	AAA		KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1		
HECTD1	25831	hgsc.bcm.edu	37	14	31582526	31582526	+	Silent	SNP	T	T	C	rs2273483	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr14:31582526T>C	ENST00000399332.1	-	33	6509	c.6021A>G	c.(6019-6021)ctA>ctG	p.L2007L	HECTD1_ENST00000553700.1_Silent_p.L2007L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2007					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CAACTATATATAGAATACGCA	0.373													C|||	2673	0.533746	0.7549	0.5	5008	,	,		14301	0.376		0.4215	False		,,,				2504	0.5368																0			14						C		2479,1217		830,819,199	123.0	118.0	119.0		6021	3.0	1.0	14	dbSNP_100	119	3329,4851		682,1965,1443	no	coding-synonymous	HECTD1	NM_015382.2		1512,2784,1642	CC,CT,TT		40.6968,32.9275,48.9054		2007/2611	31582526	5808,6068	1848	4090	5938	30652277	SO:0001819	synonymous_variant	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6021A>G	14.37:g.31582526T>C		Somatic		Capture	Illumina HiSeq	Phase_I	30652277	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	CCDS41939.1	1078	0.4935897435897436	375	0.7621951219512195	183	0.505524861878453	206	0.36013986013986016	314	0.41424802110817943	C	0.183	-1.060382	0.01950	0.670725	0.406968	ENSG00000092148	ENST00000554882	.	.	.	5.94	3.05	0.35203	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.25293	-1.0136	3	.	.	.	-4.2389	4.2472	0.10677	0.117:0.5125:0.2434:0.127	rs2273483;rs61584938;rs2273483	.	.	.	C	373	.	.	Y	-	2	0	HECTD1	30652277	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	0.790000	0.26900	0.424000	0.26061	-0.755000	0.03482	TAT		HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1		
ARHGAP5	394	hgsc.bcm.edu	37	14	32561296	32561296	+	Missense_Mutation	SNP	T	T	C	rs200111638		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr14:32561296T>C	ENST00000345122.3	+	2	1736	c.1421T>C	c.(1420-1422)gTa>gCa	p.V474A	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V474A|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V474A|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V474A|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	474	FF 3.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGCAAAGAGGTATATGGTAGG	0.368																																					NSCLC(9;77 350 3443 29227 41353)												0			14											74.0	77.0	76.0					14																	32561296		2203	4297	6500	31631047	SO:0001583	missense	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1421T>C	14.37:g.32561296T>C	ENSP00000371897:p.Val474Ala	Somatic		Capture	Illumina HiSeq	Phase_I	31631047	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311365	0.60414	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	6.02	6.02	0.97574	FF domain (1);	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	L	0.40543	1.245	0.80722	D	1	P;P	0.49961	0.93;0.885	P;P	0.56042	0.79;0.622	T	0.00254	-1.1874	10	0.56958	D	0.05	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	474;474	Q13017-2;Q13017	.;RHG05_HUMAN	A	474	ENSP00000452222:V474A;ENSP00000441692:V474A;ENSP00000371897:V474A;ENSP00000393307:V474A	ENSP00000371897:V474A	V	+	2	0	ARHGAP5	31631047	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.040000	0.89188	2.299000	0.77371	0.528000	0.53228	GTA		ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	
CTAGE5	4253	hgsc.bcm.edu	37	14	39818028	39818028	+	Missense_Mutation	SNP	A	A	G	rs1140952	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr14:39818028A>G	ENST00000280083.3	+	23	2409	c.2095A>G	c.(2095-2097)Atc>Gtc	p.I699V	CTAGE5_ENST00000341749.3_Missense_Mutation_p.I687V|CTAGE5_ENST00000348007.3_Missense_Mutation_p.I656V|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.I670V|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.I1234V|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000396158.2_Missense_Mutation_p.I704V|CTAGE5_ENST00000556148.1_Missense_Mutation_p.I624V|CTAGE5_ENST00000557038.1_Missense_Mutation_p.I619V|CTAGE5_ENST00000341502.5_Missense_Mutation_p.I699V|CTAGE5_ENST00000396165.4_Missense_Mutation_p.I670V|CTAGE5_ENST00000553352.1_Missense_Mutation_p.I670V			O15320	CTGE5_HUMAN	CTAGE family, member 5	699	Pro-rich.		I -> V (in dbSNP:rs1140952). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9356211}.		positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TCTTGCTCCAATCAGAGGTCC	0.493													A|||	1926	0.384585	0.2519	0.3415	5008	,	,		16436	0.5923		0.4115	False		,,,				2504	0.3528																0			14						A	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	1173,3233	412.2+/-336.0	151,871,1181	191.0	199.0	196.0		2095,2059,1966,2008	-2.0	0.0	14	dbSNP_86	196	3395,5205	500.7+/-375.3	671,2053,1576	yes	missense,missense,missense,missense	CTAGE5	NM_005930.3,NM_203354.2,NM_203355.2,NM_203356.2	29,29,29,29	822,2924,2757	GG,GA,AA		39.4767,26.6228,35.1223	benign,benign,benign,benign	699/805,687/793,656/762,670/776	39818028	4568,8438	2203	4300	6503	38887779	SO:0001583	missense	4253			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2095A>G	14.37:g.39818028A>G	ENSP00000280083:p.Ile699Val	Somatic		Capture	Illumina HiSeq	Phase_I	38887779	B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	CCDS9674.1	937	0.429029304029304	131	0.266260162601626	136	0.3756906077348066	359	0.6276223776223776	311	0.4102902374670185	A	0.004	-2.297832	0.00243	0.266228	0.394767	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.06528	3.49;3.33;3.33;3.29;3.55;3.58;3.58;3.33;3.83;3.29	5.41	-2.01	0.07410	.	1.206650	0.06423	N	0.722732	T	0.00012	0.0000	N	0.13043	0.29	0.80722	P	0.0	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0	B;B;B;B;B	0.09377	0.002;0.004;0.002;0.004;0.002	T	0.32241	-0.9914	8	.	.	.	.	8.1094	0.30905	0.1281:0.1851:0.6868:0.0	rs1140952;rs3204972;rs17846661;rs17859758;rs1140952	704;656;699;627;687	O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;CTGE5_HUMAN;.;.	V	1234;687;619;670;699;704;699;624;656;670	ENSP00000452252:I1234V;ENSP00000343897:I687V;ENSP00000450869:I619V;ENSP00000379468:I670V;ENSP00000339286:I699V;ENSP00000379462:I704V;ENSP00000280083:I699V;ENSP00000452562:I624V;ENSP00000343912:I656V;ENSP00000450449:I670V	.	I	+	1	0	CTAGE5;RP11-407N17.3	38887779	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-1.436000	0.02421	-0.792000	0.04480	-0.316000	0.08728	ATC		CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930	
FANCM	57697	hgsc.bcm.edu	37	14	45658453	45658453	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr14:45658453C>G	ENST00000267430.5	+	20	5313	c.5228C>G	c.(5227-5229)tCc>tGc	p.S1743C	FANCM_ENST00000542564.2_Missense_Mutation_p.S1717C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1743	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATACAATTTCCGAAGTCTCA	0.418								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0			14											123.0	127.0	125.0					14																	45658453		2203	4300	6503	44728203	SO:0001583	missense	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5228C>G	14.37:g.45658453C>G	ENSP00000267430:p.Ser1743Cys	Somatic		Capture	Illumina HiSeq	Phase_I	44728203	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.59|14.59	2.581325|2.581325	0.46006|0.46006	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|T;T;T	.|0.78816	.|-1.21;-1.21;-1.21	5.26|5.26	4.33|4.33	0.51752|0.51752	.|.	.|1.125210	.|0.06380	.|N	.|0.715088	D|D	0.86619|0.86619	0.5976|0.5976	M|M	0.66939|0.66939	2.045|2.045	0.09310|0.09310	N|N	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.67231	.|0.95;0.95	T|T	0.69632|0.69632	-0.5093|-0.5093	5|10	.|0.72032	.|D	.|0.01	.|.	10.3121|10.3121	0.43714|0.43714	0.0:0.9006:0.0:0.0994|0.0:0.9006:0.0:0.0994	.|.	.|1717;1743	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	L|C	675|1743;1717;1259	.|ENSP00000267430:S1743C;ENSP00000442493:S1717C;ENSP00000452033:S1259C	.|ENSP00000267430:S1743C	F|S	+|+	3|2	2|0	FANCM|FANCM	44728203|44728203	0.970000|0.970000	0.33590|0.33590	0.006000|0.006000	0.13384|0.13384	0.003000|0.003000	0.03518|0.03518	3.340000|3.340000	0.52143|0.52143	1.274000|1.274000	0.44362|0.44362	-0.355000|-0.355000	0.07637|0.07637	TTC|TCC		FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
NDUFB1	4707	hgsc.bcm.edu	37	14	92588002	92588002	+	5'UTR	SNP	T	T	G	rs3818263	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr14:92588002T>G	ENST00000553514.1	-	0	66				CPSF2_ENST00000298875.4_5'Flank|NDUFB1_ENST00000329559.3_Silent_p.V40V|NDUFB1_ENST00000605997.1_5'UTR|NDUFB1_ENST00000555441.1_5'Flank|NDUFB1_ENST00000556555.1_5'UTR			O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)		CCTCAGCGCCTACAGCGACCC	0.711													G|||	2703	0.539736	0.5514	0.379	5008	,	,		10980	0.8552		0.334	False		,,,				2504	0.5245																0			14						G		2232,2174		573,1086,544	33.0	39.0	37.0		120	-7.0	0.0	14	dbSNP_107	37	2915,5681		489,1937,1872	no	coding-synonymous	NDUFB1	NM_004545.3		1062,3023,2416	GG,GT,TT		33.9111,49.3418,39.5862		40/106	92588002	5147,7855	2203	4298	6501	91657755	SO:0001623	5_prime_UTR_variant	4707			BC104672	CCDS9901.1	14q31.3	2011-07-04	2002-08-29		ENSG00000183648	ENSG00000183648		"""Mitochondrial respiratory chain complex / Complex I"""	7695	protein-coding gene	gene with protein product	"""complex I MNLL subunit"""	603837	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD, MNLL)"""			9763677	Standard	NM_004545		Approved	MNLL, CI-MNLL	uc001yaf.3	O75438		ENST00000553514.1:c.-140A>C	14.37:g.92588002T>G		Somatic		Capture	Illumina HiSeq	Phase_I	91657755	A0AV68	Silent	SNP	ENST00000553514.1	37																																																																																					NDUFB1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412116.2	NM_004545	
RIN3	79890	hgsc.bcm.edu	37	14	93118669	93118669	+	Silent	SNP	G	G	A	rs3742716	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr14:93118669G>A	ENST00000216487.7	+	6	1434	c.1275G>A	c.(1273-1275)acG>acA	p.T425T	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	425	Pro-rich.		T -> I (in dbSNP:rs3742717).|T -> M (in dbSNP:rs3742717). {ECO:0000269|PubMed:14702039}.		endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CTGAGGACACGCCCCGGGAGA	0.652													g|||	1194	0.238419	0.0295	0.2594	5008	,	,		13370	0.4494		0.2883	False		,,,				2504	0.2372																0			14						A		330,4076	173.0+/-202.9	18,294,1891	56.0	64.0	62.0		1275	0.9	0.0	14	dbSNP_107	62	2738,5862	433.0+/-357.3	433,1872,1995	no	coding-synonymous	RIN3	NM_024832.3		451,2166,3886	AA,AG,GG		31.8372,7.4898,23.5891		425/986	93118669	3068,9938	2203	4300	6503	92188422	SO:0001819	synonymous_variant	79890			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1275G>A	14.37:g.93118669G>A		Somatic		Capture	Illumina HiSeq	Phase_I	92188422	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	CCDS32144.1																																																																																				RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1		
SERPINA4	5267	hgsc.bcm.edu	37	14	95034582	95034582	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr14:95034582A>G	ENST00000557004.1	+	4	1461	c.1040A>G	c.(1039-1041)gAc>gGc	p.D347G	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.D347G|SERPINA4_ENST00000555095.1_Missense_Mutation_p.D347G			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	347					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		AAGTGGGCTGACTTATCCGGC	0.498																																																	0			14											83.0	81.0	82.0					14																	95034582		2203	4300	6503	94104335	SO:0001583	missense	5267			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.1040A>G	14.37:g.95034582A>G	ENSP00000450838:p.Asp347Gly	Somatic		Capture	Illumina HiSeq	Phase_I	94104335	Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.770868	0.69992	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.86097	-2.07;-2.07;-2.07	5.3	4.16	0.48862	Serpin domain (3);	0.320980	0.24481	N	0.038156	D	0.91092	0.7196	M	0.80746	2.51	0.80722	D	1	D;P	0.76494	0.999;0.898	D;P	0.69479	0.964;0.791	D	0.90694	0.4615	10	0.72032	D	0.01	.	10.2434	0.43326	0.9218:0.0:0.0782:0.0	.	347;347	B2R815;P29622	.;KAIN_HUMAN	G	347	ENSP00000450838:D347G;ENSP00000451172:D347G;ENSP00000298841:D347G	ENSP00000298841:D347G	D	+	2	0	SERPINA4	94104335	0.951000	0.32395	0.010000	0.14722	0.025000	0.11179	5.106000	0.64597	0.863000	0.35553	-0.250000	0.11733	GAC		SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215	
JAG2	3714	hgsc.bcm.edu	37	14	105615648	105615648	+	Missense_Mutation	SNP	C	C	T	rs9972231	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr14:105615648C>T	ENST00000331782.3	-	13	2015	c.1612G>A	c.(1612-1614)Gac>Aac	p.D538N	JAG2_ENST00000347004.2_Missense_Mutation_p.D500N|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	538	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.		D -> N (in dbSNP:rs9972231).		auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)	p.D538N(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCACAAAGGTCGACATCCACC	0.622													c|||	601	0.120008	0.0053	0.1268	5008	,	,		11943	0.1687		0.1312	False		,,,				2504	0.2086																2	Substitution - Missense(2)	lung(1)|skin(1)	14							ASN/ASP,ASN/ASP	143,4261	98.9+/-137.6	2,139,2061	68.0	71.0	70.0		1612,1498	3.8	0.0	14	dbSNP_119	70	1119,7481	229.8+/-264.4	82,955,3263	yes	missense,missense	JAG2	NM_002226.3,NM_145159.1	23,23	84,1094,5324	TT,TC,CC		13.0116,3.247,9.7047	possibly-damaging,possibly-damaging	538/1239,500/1201	105615648	1262,11742	2202	4300	6502	104686693	SO:0001583	missense	3714			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1612G>A	14.37:g.105615648C>T	ENSP00000328169:p.Asp538Asn	Somatic		Capture	Illumina HiSeq	Phase_I	104686693	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	CCDS9998.1	253	0.11584249084249085	5	0.01016260162601626	44	0.12154696132596685	104	0.18181818181818182	100	0.13192612137203166	C	12.41	1.928193	0.34002	0.03247	0.130116	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.83673	-1.75;-1.75	3.8	3.8	0.43715	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.056989	0.64402	D	0.000002	T	0.00412	0.0013	L	0.49455	1.56	0.21020	P	0.999805715	B;B	0.34147	0.438;0.202	B;B	0.29267	0.1;0.025	T	0.30238	-0.9985	9	0.20519	T	0.43	.	13.511	0.61513	0.0:1.0:0.0:0.0	rs9972231;rs57317492;rs9972231	500;538	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	N	538;500	ENSP00000328169:D538N;ENSP00000328566:D500N	ENSP00000328169:D538N	D	-	1	0	JAG2	104686693	0.269000	0.24143	0.038000	0.18304	0.038000	0.13279	0.959000	0.29240	1.830000	0.53286	0.556000	0.70494	GAC		JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2		
OR10H5	284433	hgsc.bcm.edu	37	19	15905061	15905061	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr19:15905061T>C	ENST00000308940.8	+	1	301	c.203T>C	c.(202-204)aTc>aCc	p.I68T		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						GCCCTCTCCATCACCGAGATC	0.622																																																	0			19											206.0	164.0	178.0					19																	15905061		2203	4300	6503	15766061	SO:0001583	missense	284433			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.203T>C	19.37:g.15905061T>C	ENSP00000310704:p.Ile68Thr	Somatic		Capture	Illumina HiSeq	Phase_I	15766061	Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	0.039	-1.294597	0.01375	.	.	ENSG00000172519	ENST00000308940	T	0.00551	6.65	3.47	0.0127	0.14093	GPCR, rhodopsin-like superfamily (1);	0.635963	0.13822	N	0.360341	T	0.00328	0.0010	N	0.20610	0.595	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.38908	-0.9639	10	0.19590	T	0.45	.	4.1594	0.10277	0.0:0.3256:0.1792:0.4952	.	68	Q8NGA6	O10H5_HUMAN	T	68	ENSP00000310704:I68T	ENSP00000310704:I68T	I	+	2	0	OR10H5	15766061	0.000000	0.05858	0.110000	0.21437	0.036000	0.12997	0.488000	0.22371	-0.357000	0.08175	-0.356000	0.07607	ATC		OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1		
NPAS1	4861	hgsc.bcm.edu	37	19	47543774	47543774	+	Silent	SNP	G	G	A	rs3745615	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr19:47543774G>A	ENST00000602212.1	+	9	1255	c.1035G>A	c.(1033-1035)caG>caA	p.Q345Q	NPAS1_ENST00000449844.2_Silent_p.Q345Q|NPAS1_ENST00000439365.2_Silent_p.Q169Q|NPAS1_ENST00000602189.1_Silent_p.Q170Q			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	345	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		TCCACGGACAGGACGCCACGA	0.662													G|||	2878	0.574681	0.3177	0.6556	5008	,	,		12848	0.7192		0.7237	False		,,,				2504	0.5624																0			19						G		1638,2764		305,1028,868	45.0	38.0	40.0		1035	4.1	1.0	19	dbSNP_107	40	6193,2401		2239,1715,343	no	coding-synonymous	NPAS1	NM_002517.2		2544,2743,1211	AA,AG,GG		27.9381,37.2104,39.743		345/591	47543774	7831,5165	2201	4297	6498	52235614	SO:0001819	synonymous_variant	4861			U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"""Basic helix-loop-helix proteins"""	7894	protein-coding gene	gene with protein product	"""neuronal PAS1"", ""member of PAS superfamily 5"""	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.1035G>A	19.37:g.47543774G>A		Somatic		Capture	Illumina HiSeq	Phase_I	52235614	B4DR69|Q99632|Q9BY83	Silent	SNP	ENST00000602212.1	37	CCDS12694.1																																																																																				NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466658.1	NM_002517	
SIGLEC6	946	hgsc.bcm.edu	37	19	52033206	52033206	+	Missense_Mutation	SNP	G	G	A	rs2005199	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr19:52033206G>A	ENST00000425629.3	-	5	938	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	SIGLEC6_ENST00000359982.4_Missense_Mutation_p.L273F|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.L251F|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.L246F|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.L210F|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.L262F	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	262	Ig-like C2-type 2.		L -> F (in dbSNP:rs2005199).		cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGACAGGGAGGGACGAGGTG	0.607													G|||	354	0.0706869	0.0144	0.0648	5008	,	,		17592	0.0942		0.0686	False		,,,				2504	0.1288																0			19						G	PHE/LEU,PHE/LEU,PHE/LEU,PHE/LEU,PHE/LEU,PHE/LEU	105,4301	79.9+/-118.3	1,103,2099	99.0	111.0	107.0		628,817,751,784,736,784	-2.2	0.0	19	dbSNP_92	107	577,8015	151.0+/-205.8	20,537,3739	yes	missense,missense,missense,missense,missense,missense	SIGLEC6	NM_001177547.1,NM_001177548.1,NM_001177549.1,NM_001245.5,NM_198845.4,NM_198846.4	22,22,22,22,22,22	21,640,5838	AA,AG,GG		6.7155,2.3831,5.247	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	210/402,273/390,251/343,262/454,246/438,262/354	52033206	682,12316	2203	4296	6499	56725018	SO:0001583	missense	946			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.784C>T	19.37:g.52033206G>A	ENSP00000401502:p.Leu262Phe	Somatic		Capture	Illumina HiSeq	Phase_I	56725018	A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	CCDS12834.3	150	0.06868131868131869	13	0.026422764227642278	30	0.08287292817679558	58	0.10139860139860139	49	0.06464379947229551	G	12.86	2.065950	0.36470	0.023831	0.067155	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	3.71	-2.15	0.07102	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.482528	0.15384	N	0.265175	T	0.05364	0.0142	M	0.79926	2.475	0.80722	P	0.0	B;P;P;P;P;P	0.49635	0.451;0.759;0.839;0.839;0.926;0.701	P;P;P;P;P;P	0.55667	0.498;0.513;0.781;0.673;0.781;0.617	T	0.48305	-0.9047	9	0.52906	T	0.07	.	0.4643	0.00521	0.2894:0.1853:0.3361:0.1892	rs2005199;rs17305038;rs52789758;rs59181551;rs2005199	273;210;251;262;246;262	F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	F	235;246;262;273;210;262	ENSP00000401502:L262F;ENSP00000353071:L273F;ENSP00000410679:L210F;ENSP00000345907:L262F	ENSP00000345907:L262F	L	-	1	0	SIGLEC6	56725018	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.232000	0.09055	-0.404000	0.07610	0.514000	0.50259	CTC		SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245	
ZNF761	388561	hgsc.bcm.edu	37	19	53958126	53958126	+	RNA	SNP	T	T	G	rs2708743	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr19:53958126T>G	ENST00000454407.1	+	0	818							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TTGACAGGTATTACAGAACGA	0.358													N|||	3224	0.64377	0.6846	0.7666	5008	,	,		20267	0.5278		0.6899	False		,,,				2504	0.5736																0			19						G	SER/ILE	3076,1330	441.4+/-346.4	1090,896,217	95.0	94.0	94.0		366	-2.0	0.0	19	dbSNP_100	94	5864,2736	435.4+/-358.0	1984,1896,420	yes	missense	ZNF761	NM_001008401.3	142	3074,2792,637	GG,GT,TT		31.814,30.1861,31.2625	probably-damaging	122/747	53958126	8940,4066	2203	4300	6503	58649938			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958126T>G		Somatic		Capture	Illumina HiSeq	Phase_I	58649938	Q6ZNB9	Nonsense_Mutation	SNP	ENST00000454407.1	37																																																																																					ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401	
ZNF761	388561	hgsc.bcm.edu	37	19	53959568	53959568	+	RNA	SNP	G	G	C	rs2617726	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr19:53959568G>C	ENST00000454407.1	+	0	2260							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCATACTGAAGAGAATCCTTA	0.393													g|||	1936	0.386581	0.3964	0.5346	5008	,	,		24330	0.2401		0.3986	False		,,,				2504	0.407																0			19						G	GLN/GLU	1775,2631	521.7+/-370.6	392,991,820	116.0	121.0	119.0		1808	1.1	0.2	19	dbSNP_100	119	3494,5102	510.5+/-377.5	706,2082,1510	no	missense	ZNF761	NM_001008401.3	29	1098,3073,2330	CC,CG,GG		40.6468,40.286,40.5245	benign	603/747	53959568	5269,7733	2203	4298	6501	58651380			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959568G>C		Somatic		Capture	Illumina HiSeq	Phase_I	58651380	Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37																																																																																					ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401	
KAT6A	7994	hgsc.bcm.edu	37	8	41832338	41832338	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr8:41832338T>C	ENST00000396930.3	-	9	1909	c.1366A>G	c.(1366-1368)Aat>Gat	p.N456D	KAT6A_ENST00000485568.1_Missense_Mutation_p.N456D|KAT6A_ENST00000265713.2_Missense_Mutation_p.N456D|KAT6A_ENST00000406337.1_Missense_Mutation_p.N456D	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	456	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CCATCCTGATTGTCTACATAT	0.348																																																	0			8											83.0	78.0	80.0					8																	41832338		2203	4300	6503	41951495	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1366A>G	8.37:g.41832338T>C	ENSP00000380136:p.Asn456Asp	Somatic		Capture	Illumina HiSeq	Phase_I	41951495	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.300185	0.60195	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.83914	0.23;0.23;0.23;-1.78	5.68	5.68	0.88126	.	0.268590	0.37261	N	0.002177	D	0.87341	0.6153	L	0.42245	1.32	0.58432	D	0.999993	D;D	0.69078	0.993;0.997	D;D	0.75020	0.971;0.985	D	0.85871	0.1416	10	0.32370	T	0.25	-16.7418	15.9723	0.80031	0.0:0.0:0.0:1.0	.	456;456	A5PLL3;Q92794	.;KAT6A_HUMAN	D	456	ENSP00000265713:N456D;ENSP00000385888:N456D;ENSP00000380136:N456D;ENSP00000430606:N456D	ENSP00000265713:N456D	N	-	1	0	KAT6A	41951495	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.367000	0.79558	2.169000	0.68431	0.529000	0.55759	AAT		KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
ZC2HC1A	51101	hgsc.bcm.edu	37	8	79610710	79610710	+	Silent	SNP	A	A	G	rs1054283	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr8:79610710A>G	ENST00000263849.4	+	7	768	c.666A>G	c.(664-666)ttA>ttG	p.L222L		NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	222							metal ion binding (GO:0046872)										TTCAGACCTTATCTCCCTCTC	0.343													A|||	3592	0.717252	0.4985	0.7968	5008	,	,		16940	0.8978		0.7157	False		,,,				2504	0.772																0			8						A		2401,2005	615.4+/-392.6	668,1065,470	117.0	113.0	114.0		666	2.0	1.0	8	dbSNP_86	114	6317,2283	706.5+/-405.5	2325,1667,308	no	coding-synonymous	FAM164A	NM_016010.2		2993,2732,778	GG,GA,AA		26.5465,45.5061,32.9694		222/326	79610710	8718,4288	2203	4300	6503	79773265	SO:0001819	synonymous_variant	51101				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.666A>G	8.37:g.79610710A>G		Somatic		Capture	Illumina HiSeq	Phase_I	79773265	Q9Y372	Silent	SNP	ENST00000263849.4	37	CCDS6223.1	1586	0.7261904761904762	244	0.4959349593495935	291	0.8038674033149171	508	0.8881118881118881	543	0.716358839050132	A	6.349	0.432414	0.12045	0.544939	0.734535	ENSG00000104427	ENST00000519307	.	.	.	5.85	2.0	0.26442	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999973996	.	.	.	.	.	.	T	0.15122	-1.0448	3	.	.	.	-4.1446	5.4563	0.16592	0.641:0.1342:0.2248:0.0	rs1054283;rs3194797;rs13258774;rs17418488;rs17845203;rs17858015;rs1054283	.	.	.	V	55	.	.	I	+	1	0	FAM164A	79773265	0.992000	0.36948	0.996000	0.52242	0.666000	0.39218	0.371000	0.20450	0.096000	0.17463	-0.379000	0.06801	ATC		ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010	
COL14A1	7373	hgsc.bcm.edu	37	8	121210069	121210069	+	Silent	SNP	T	T	C	rs2305598	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr8:121210069T>C	ENST00000297848.3	+	7	882	c.612T>C	c.(610-612)ggT>ggC	p.G204G	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.G204G|COL14A1_ENST00000247781.3_Intron|COL14A1_ENST00000537875.1_Silent_p.G204G	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGTATAGTGGTGACCCCAGAA	0.408													C|||	3177	0.634385	0.8192	0.6009	5008	,	,		16103	0.6597		0.4622	False		,,,				2504	0.5593																0			8						C		3359,1047	385.1+/-325.6	1310,739,154	122.0	125.0	124.0		612	-6.2	0.6	8	dbSNP_100	124	4124,4476	590.4+/-392.7	1002,2120,1178	no	coding-synonymous	COL14A1	NM_021110.1		2312,2859,1332	CC,CT,TT		47.9535,23.7631,42.465		204/1797	121210069	7483,5523	2203	4300	6503	121279250	SO:0001819	synonymous_variant	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.612T>C	8.37:g.121210069T>C		Somatic		Capture	Illumina HiSeq	Phase_I	121279250		Silent	SNP	ENST00000297848.3	37	CCDS34938.1																																																																																				COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
COL14A1	7373	hgsc.bcm.edu	37	8	121228679	121228679	+	Missense_Mutation	SNP	A	A	C	rs4870723	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr8:121228679A>C	ENST00000297848.3	+	14	1957	c.1687A>C	c.(1687-1689)Aat>Cat	p.N563H	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.N563H|COL14A1_ENST00000247781.3_Missense_Mutation_p.N468H|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGACAGATCAATGGTTATCG	0.408													A|||	2955	0.590056	0.6286	0.5749	5008	,	,		17835	0.6687		0.4702	False		,,,				2504	0.591																0			8						A	HIS/ASN	2536,1870	632.1+/-395.8	757,1022,424	124.0	115.0	118.0		1687	2.8	0.0	8	dbSNP_111	118	4175,4425	567.4+/-388.8	1034,2107,1159	yes	missense	COL14A1	NM_021110.1	68	1791,3129,1583	CC,CA,AA		48.5465,42.4421,48.4007	benign	563/1797	121228679	6711,6295	2203	4300	6503	121297860	SO:0001583	missense	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1687A>C	8.37:g.121228679A>C	ENSP00000297848:p.Asn563His	Somatic		Capture	Illumina HiSeq	Phase_I	121297860		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	1247|1247	0.5709706959706959|0.5709706959706959	306|306	0.6219512195121951|0.6219512195121951	212|212	0.585635359116022|0.585635359116022	381|381	0.666083916083916|0.666083916083916	348|348	0.45910290237467016|0.45910290237467016	A|A	10.79|10.79	1.450389|1.450389	0.26074|0.26074	0.575579|0.575579	0.485465|0.485465	ENSG00000187955|ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620|ENST00000523142	T;T;T;T|.	0.57436|.	0.4;0.4;0.4;0.4|.	5.29|5.29	2.85|2.85	0.33270|0.33270	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	1.232880|.	0.05311|.	N|.	0.524871|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.25647|0.25647	0.755|0.755	0.51012|0.51012	P|P	9.499999999995623E-5|9.499999999995623E-5	P;B|.	0.35050|.	0.482;0.295|.	P;B|.	0.46172|.	0.506;0.298|.	T|T	0.37820|0.37820	-0.9689|-0.9689	9|4	0.56958|.	D|.	0.05|.	.|.	7.3206|7.3206	0.26526|0.26526	0.8012:0.0:0.0701:0.1287|0.8012:0.0:0.0701:0.1287	rs4870723;rs59507382;rs4870723|rs4870723;rs59507382;rs4870723	563;563|.	Q05707-2;Q05707|.	.;COEA1_HUMAN|.	H|P	563;563;468;376|319	ENSP00000311809:N563H;ENSP00000297848:N563H;ENSP00000247781:N468H;ENSP00000409461:N376H|.	ENSP00000247781:N468H|.	N|Q	+|+	1|2	0|0	COL14A1|COL14A1	121297860|121297860	0.244000|0.244000	0.23889|0.23889	0.010000|0.010000	0.14722|0.14722	0.003000|0.003000	0.03518|0.03518	3.215000|3.215000	0.51169|0.51169	0.435000|0.435000	0.26365|0.26365	0.533000|0.533000	0.62120|0.62120	AAT|CAA		COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
EFR3A	23167	hgsc.bcm.edu	37	8	132999936	132999936	+	Silent	SNP	A	A	G	rs2270875	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr8:132999936A>G	ENST00000254624.5	+	18	2277	c.2052A>G	c.(2050-2052)gtA>gtG	p.V684V	EFR3A_ENST00000334503.4_Silent_p.V684V|EFR3A_ENST00000519656.1_Silent_p.V648V	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	684						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.V684V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTCCGTATGTACCACAAGTAA	0.353													A|||	662	0.132188	0.034	0.1513	5008	,	,		15583	0.1587		0.1064	False		,,,				2504	0.2505																1	Substitution - coding silent(1)	stomach(1)	8						A		198,4204	115.4+/-153.4	6,186,2009	93.0	76.0	81.0		2052	-6.3	0.8	8	dbSNP_100	81	1013,7583	201.3+/-244.8	55,903,3340	no	coding-synonymous	EFR3A	NM_015137.4		61,1089,5349	GG,GA,AA		11.7846,4.498,9.3168		684/822	132999936	1211,11787	2201	4298	6499	133069118	SO:0001819	synonymous_variant	23167			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.2052A>G	8.37:g.132999936A>G		Somatic		Capture	Illumina HiSeq	Phase_I	133069118	A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	ENST00000254624.5	37	CCDS34942.2																																																																																				EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137	
TG	7038	hgsc.bcm.edu	37	8	133931748	133931748	+	Silent	SNP	T	T	C	rs853304	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr8:133931748T>C	ENST00000220616.4	+	21	4546	c.4506T>C	c.(4504-4506)gcT>gcC	p.A1502A	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Silent_p.A1502A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1502					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.A1502A(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCATTTCTGCTGGAGCTTTCA	0.488													C|||	2373	0.473842	0.351	0.6052	5008	,	,		19290	0.3542		0.6074	False		,,,				2504	0.5327																1	Substitution - coding silent(1)	stomach(1)	8						C		1751,2655	647.4+/-398.5	372,1007,824	148.0	116.0	127.0		4506	-5.8	0.0	8	dbSNP_86	127	5271,3329	495.1+/-374.0	1638,1995,667	no	coding-synonymous	TG	NM_003235.4		2010,3002,1491	CC,CT,TT		38.7093,39.7413,46.0095		1502/2769	133931748	7022,5984	2203	4300	6503	134000930	SO:0001819	synonymous_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4506T>C	8.37:g.133931748T>C		Somatic		Capture	Illumina HiSeq	Phase_I	134000930	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1	1037	0.4748168498168498	162	0.32926829268292684	214	0.5911602209944752	195	0.3409090909090909	466	0.6147757255936676	C	0.377	-0.930702	0.02359	0.397413	0.612907	ENSG00000042832	ENST00000519178	.	.	.	5.39	-5.82	0.02333	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.20926	P	0.99982814	.	.	.	.	.	.	T	0.38001	-0.9681	3	.	.	.	.	7.4268	0.27105	0.0:0.2113:0.4241:0.3646	rs853304;rs1140939;rs2069560;rs3739272;rs57557910;rs853304	.	.	.	R	22	.	.	W	+	1	0	TG	134000930	0.000000	0.05858	0.003000	0.11579	0.086000	0.17979	-0.618000	0.05578	-1.170000	0.02769	-3.029000	0.00073	TGG		TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
PSCA	8000	hgsc.bcm.edu	37	8	143763531	143763531	+	Nonsense_Mutation	SNP	G	G	A	rs138377917	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr8:143763531G>A	ENST00000301258.4	+	3	409	c.326G>A	c.(325-327)tGg>tAg	p.W109*		NM_005672.4	NP_005663.2	O43653	PSCA_HUMAN	prostate stem cell antigen	118						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGCTGCTCTGGGGACCCGGC	0.706													G|||	38	0.00758786	0.0008	0.013	5008	,	,		14034	0.0		0.0258	False		,,,				2504	0.002																0			8						G	stop/TRP	29,4163		1,27,2068	19.0	22.0	21.0		326	3.2	1.0	8	dbSNP_134	21	287,8139		7,273,3933	yes	stop-gained	PSCA	NM_005672.4		8,300,6001	AA,AG,GG		3.4061,0.6918,2.5044		109/115	143763531	316,12302	2096	4213	6309	143760533	SO:0001587	stop_gained	8000			AF043498	CCDS47925.1, CCDS47925.2	8q24.2	2004-02-03				ENSG00000167653			9500	protein-coding gene	gene with protein product		602470				9465086	Standard	NM_005672		Approved		uc022bcd.1	O43653		ENST00000301258.4:c.326G>A	8.37:g.143763531G>A	ENSP00000301258:p.Trp109*	Somatic		Capture	Illumina HiSeq	Phase_I	143760533	Q6UW92	Nonsense_Mutation	SNP	ENST00000301258.4	37	CCDS47925.2	27	0.012362637362637362	2	0.0040650406504065045	6	0.016574585635359115	0	0.0	19	0.025065963060686015	G	17.42	3.384145	0.61845	0.006918	0.034061	ENSG00000167653	ENST00000301258	.	.	.	3.21	3.21	0.36854	.	0.705245	0.11876	N	0.520920	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1903	0.43021	0.0:0.0:1.0:0.0	.	.	.	.	X	118	.	ENSP00000301258:W118X	W	+	2	0	PSCA	143760533	0.999000	0.42202	0.953000	0.39169	0.012000	0.07955	1.837000	0.39201	2.096000	0.63516	0.563000	0.77884	TGG		PSCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367112.2	NM_005672	
CYP11B2	1585	hgsc.bcm.edu	37	8	143996553	143996553	+	Silent	SNP	G	G	A	rs4546	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr8:143996553G>A	ENST00000323110.2	-	3	506	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	168					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GGGCCTGGGAGAAGTCCCTGG	0.622									Familial Hyperaldosteronism type I				.|||	1730	0.345447	0.1838	0.4697	5008	,	,		19590	0.2867		0.4841	False		,,,				2504	0.3937																0			8						G		1021,3385		122,777,1304	43.0	39.0	41.0		504	1.6	0.0	8	dbSNP_52	41	3861,4735		876,2109,1313	no	coding-synonymous	CYP11B2	NM_000498.3		998,2886,2617	AA,AG,GG		44.9162,23.1729,37.5481		168/504	143996553	4882,8120	2203	4298	6501	143993555	SO:0001819	synonymous_variant	1585	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.504C>T	8.37:g.143996553G>A		Somatic		Capture	Illumina HiSeq	Phase_I	143993555	B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	CCDS6393.1																																																																																				CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1		
ADCK5	203054	hgsc.bcm.edu	37	8	145603114	145603114	+	Missense_Mutation	SNP	A	A	C	rs6599528	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr8:145603114A>C	ENST00000308860.6	+	2	95	c.51A>C	c.(49-51)agA>agC	p.R17S	ADCK5_ENST00000532190.1_Missense_Mutation_p.R17S|ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	17			R -> S (in dbSNP:rs6599528). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17344846}.			integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)	p.R17S(1)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGCTGCACAGAAGGCAGAAGC	0.602													C|||	3167	0.632388	0.8101	0.5648	5008	,	,		20220	0.6577		0.4314	False		,,,				2504	0.6207																1	Substitution - Missense(1)	stomach(1)	8						C	SER/ARG	3290,1114	391.2+/-328.0	1218,854,130	64.0	54.0	57.0		51	3.7	0.0	8	dbSNP_116	57	3755,4845	613.8+/-396.1	826,2103,1371	yes	missense	ADCK5	NM_174922.3	110	2044,2957,1501	CC,CA,AA		43.6628,25.2952,45.8244	benign	17/581	145603114	7045,5959	2202	4300	6502	145573922	SO:0001583	missense	203054			BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.51A>C	8.37:g.145603114A>C	ENSP00000310547:p.Arg17Ser	Somatic		Capture	Illumina HiSeq	Phase_I	145573922	B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	ENST00000308860.6	37	CCDS34965.1	1275	0.5837912087912088	387	0.7865853658536586	201	0.5552486187845304	369	0.6451048951048951	318	0.41952506596306066	C	0.157	-1.085760	0.01873	0.747048	0.436628	ENSG00000173137	ENST00000308860;ENST00000532190	T;T	0.74421	-0.84;0.92	4.55	3.68	0.42216	.	0.917523	0.09037	N	0.857810	T	0.00012	0.0000	N	0.00483	-1.445	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.42582	-0.9443	9	0.07175	T	0.84	-5.5209	5.77	0.18247	0.1918:0.7078:0.0:0.1004	rs6599528;rs61015944;rs6599528	17	Q3MIX3	ADCK5_HUMAN	S	17	ENSP00000310547:R17S;ENSP00000435155:R17S	ENSP00000310547:R17S	R	+	3	2	ADCK5	145573922	0.127000	0.22367	0.001000	0.08648	0.279000	0.26890	2.275000	0.43399	0.389000	0.25086	-0.975000	0.02590	AGA		ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922	
UBE4B	10277	hgsc.bcm.edu	37	1	10231208	10231208	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:10231208C>T	ENST00000253251.8	+	24	3798	c.2959C>T	c.(2959-2961)Cga>Tga	p.R987*	UBE4B_ENST00000343090.6_Nonsense_Mutation_p.R1116*|UBE4B_ENST00000377157.3_Nonsense_Mutation_p.R871*					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCTTGGACCCCGATTGGCTGC	0.448																																																	0			1											95.0	99.0	98.0					1																	10231208		2203	4300	6503	10153795	SO:0001587	stop_gained	10277			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2959C>T	1.37:g.10231208C>T	ENSP00000253251:p.Arg987*	Somatic		Capture	Illumina HiSeq	Phase_I	10153795		Nonsense_Mutation	SNP	ENST00000253251.8	37	CCDS110.1	.	.	.	.	.	.	.	.	.	.	C	49	16.040778	0.99852	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9686	15.0617	0.71961	0.1418:0.8582:0.0:0.0	.	.	.	.	X	987;871;1116	.	ENSP00000253251:R987X	R	+	1	2	UBE4B	10153795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.930000	0.70104	2.793000	0.96121	0.655000	0.94253	CGA		UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048	
ACADM	34	hgsc.bcm.edu	37	1	76205781	76205781	+	Silent	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:76205781A>G	ENST00000370841.4	+	7	1022	c.585A>G	c.(583-585)ggA>ggG	p.G195G	ACADM_ENST00000420607.2_Silent_p.G199G|ACADM_ENST00000543667.1_Silent_p.G6G|ACADM_ENST00000541113.1_Silent_p.G159G|ACADM_ENST00000370834.5_Silent_p.G228G	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	195			G -> R (in ACADMD). {ECO:0000269|PubMed:7929823}.		cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	TAACCAACGGAGGAAAAGCTA	0.328																																																	0			1											104.0	107.0	106.0					1																	76205781		2203	4299	6502	75978369	SO:0001819	synonymous_variant	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.585A>G	1.37:g.76205781A>G		Somatic		Capture	Illumina HiSeq	Phase_I	75978369	Q5T4U4|Q9NYF1	Silent	SNP	ENST00000370841.4	37	CCDS668.1																																																																																				ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1		
CTBS	1486	hgsc.bcm.edu	37	1	85039955	85039955	+	Silent	SNP	G	G	A	rs2303307	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:85039955G>A	ENST00000370630.5	-	1	192	c.144C>T	c.(142-144)ctC>ctT	p.L48L	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	48					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TCGGGCGGCAGAGCTCAGGCT	0.687													G|||	1373	0.274161	0.2595	0.2464	5008	,	,		8005	0.2302		0.2475	False		,,,				2504	0.3865																0			1						G		1086,3252		157,772,1240	8.0	8.0	8.0		144	3.0	1.0	1	dbSNP_100	8	2129,6387		294,1541,2423	no	coding-synonymous	CTBS	NM_004388.2		451,2313,3663	AA,AG,GG		25.0,25.0346,25.0117		48/386	85039955	3215,9639	2169	4258	6427	84812543	SO:0001819	synonymous_variant	1486			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.144C>T	1.37:g.85039955G>A		Somatic		Capture	Illumina HiSeq	Phase_I	84812543	Q5VX50	Silent	SNP	ENST00000370630.5	37	CCDS698.1																																																																																				CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388	
CDC7	8317	hgsc.bcm.edu	37	1	91977399	91977399	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:91977399C>T	ENST00000428239.1	+	6	750	c.491C>T	c.(490-492)gCt>gTt	p.A164V	CDC7_ENST00000430031.2_Missense_Mutation_p.A136V|CDC7_ENST00000234626.6_Missense_Mutation_p.A164V	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	164	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CTGTTCAAAGCTTTGAAACGC	0.328																																																	0			1											92.0	90.0	91.0					1																	91977399		2203	4298	6501	91749987	SO:0001583	missense	8317			AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.491C>T	1.37:g.91977399C>T	ENSP00000393139:p.Ala164Val	Somatic		Capture	Illumina HiSeq	Phase_I	91749987	D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	CCDS734.1	.	.	.	.	.	.	.	.	.	.	C	36	5.630607	0.96682	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	T;T;T	0.12672	2.66;2.66;2.66	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.988	T	0.27157	-1.0082	10	0.87932	D	0	-8.5828	20.0114	0.97452	0.0:1.0:0.0:0.0	.	136;164	B7Z5H7;O00311	.;CDC7_HUMAN	V	136;164;164	ENSP00000407477:A136V;ENSP00000234626:A164V;ENSP00000393139:A164V	ENSP00000234626:A164V	A	+	2	0	CDC7	91749987	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.629000	0.83207	2.732000	0.93576	0.591000	0.81541	GCT		CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503	
ABCA4	24	hgsc.bcm.edu	37	1	94512603	94512603	+	Silent	SNP	G	G	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:94512603G>A	ENST00000370225.3	-	19	2876	c.2790C>T	c.(2788-2790)tgC>tgT	p.C930C	ABCA4_ENST00000535735.1_Silent_p.C856C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	930	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GATTCTTCACGCATACCCCAG	0.493																																																	0			1											134.0	146.0	142.0					1																	94512603		2203	4300	6503	94285191	SO:0001819	synonymous_variant	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2790C>T	1.37:g.94512603G>A		Somatic		Capture	Illumina HiSeq	Phase_I	94285191	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	CCDS747.1																																																																																				ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
OVGP1	5016	hgsc.bcm.edu	37	1	111957411	111957411	+	Missense_Mutation	SNP	C	C	T	rs150120731	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:111957411C>T	ENST00000369732.3	-	11	1767	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	571					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CACCTTTTCACGGGCCACAGC	0.527													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19331	0.0		0.001	False		,,,				2504	0.0																0			1						C	HIS/ARG	0,4406		0,0,2203	105.0	112.0	110.0		1712	-4.8	0.0	1	dbSNP_134	110	7,8593	5.7+/-21.5	0,7,4293	yes	missense	OVGP1	NM_002557.3	29	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	benign	571/679	111957411	7,12999	2203	4300	6503	111758934	SO:0001583	missense	5016			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1712G>A	1.37:g.111957411C>T	ENSP00000358747:p.Arg571His	Somatic		Capture	Illumina HiSeq	Phase_I	111758934	A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	CCDS834.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.790	1.177629	0.21787	0.0	8.14E-4	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.04275	3.66	4.08	-4.84	0.03151	.	8.718220	0.00357	N	0.000029	T	0.00580	0.0019	N	0.14661	0.345	0.19575	N	0.999964	P;B	0.46277	0.875;0.001	B;B	0.25759	0.063;0.001	T	0.45381	-0.9265	10	0.59425	D	0.04	0.035	0.2829	0.00247	0.3045:0.1398:0.2832:0.2726	.	571;635	Q12889;Q59HH5	OVGP1_HUMAN;.	H	571;635;379	ENSP00000358747:R571H	ENSP00000358743:R635H	R	-	2	0	OVGP1	111758934	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.400000	0.07241	-1.061000	0.03185	-1.696000	0.00724	CGT		OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557	
SLC16A1	6566	hgsc.bcm.edu	37	1	113460434	113460434	+	Silent	SNP	G	G	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:113460434G>A	ENST00000538576.1	-	4	1425	c.594C>T	c.(592-594)atC>atT	p.I198I	SLC16A1_ENST00000433570.4_Silent_p.I198I|SLC16A1_ENST00000369626.3_Silent_p.I198I	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	198					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	GCTTGGGCCCGATTGGTCGCA	0.463																																																	0			1											89.0	87.0	88.0					1																	113460434		2203	4300	6503	113261957	SO:0001819	synonymous_variant	6566			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.594C>T	1.37:g.113460434G>A		Somatic		Capture	Illumina HiSeq	Phase_I	113261957	Q49A45|Q5T8R6|Q9NSJ9	Silent	SNP	ENST00000538576.1	37	CCDS858.1																																																																																				SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051	
AMPD1	270	hgsc.bcm.edu	37	1	115216605	115216605	+	Silent	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:115216605A>G	ENST00000520113.2	-	14	2013	c.1998T>C	c.(1996-1998)ccT>ccC	p.P666P	AMPD1_ENST00000369538.3_Silent_p.P662P|AMPD1_ENST00000353928.6_Silent_p.P633P			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	666			P -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AATCCAAAAAAGGATTTTTGG	0.408																																																	0			1											94.0	95.0	95.0					1																	115216605		2203	4300	6503	115018128	SO:0001819	synonymous_variant	270			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1998T>C	1.37:g.115216605A>G		Somatic		Capture	Illumina HiSeq	Phase_I	115018128	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Silent	SNP	ENST00000520113.2	37	CCDS876.2																																																																																				AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4		
SLC22A15	55356	hgsc.bcm.edu	37	1	116562223	116562223	+	Missense_Mutation	SNP	A	A	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:116562223A>C	ENST00000369503.4	+	3	451	c.321A>C	c.(319-321)agA>agC	p.R107S	RP11-159M11.2_ENST00000453128.1_RNA|SLC22A15_ENST00000369502.1_Missense_Mutation_p.R107S	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	107					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTGCCAACAGATCCTACAAAG	0.363																																																	0			1											151.0	127.0	135.0					1																	116562223		1831	4087	5918	116363746	SO:0001583	missense	55356			AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.321A>C	1.37:g.116562223A>C	ENSP00000358515:p.Arg107Ser	Somatic		Capture	Illumina HiSeq	Phase_I	116363746	A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.719101	0.30503	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	T;T	0.70749	-0.51;-0.51	5.26	1.56	0.23342	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.171366	0.56097	D	0.000037	T	0.31827	0.0809	N	0.25245	0.725	0.34526	D	0.708655	B;B	0.23650	0.039;0.089	B;B	0.27380	0.079;0.029	T	0.04320	-1.0960	10	0.14252	T	0.57	.	9.0626	0.36444	0.6897:0.0:0.3103:0.0	.	107;107	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	S	107	ENSP00000358515:R107S;ENSP00000358514:R107S	ENSP00000358514:R107S	R	+	3	2	SLC22A15	116363746	0.980000	0.34600	1.000000	0.80357	0.954000	0.61252	0.223000	0.17719	0.431000	0.26258	0.533000	0.62120	AGA		SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420	
CGN	57530	hgsc.bcm.edu	37	1	151502427	151502427	+	Missense_Mutation	SNP	C	C	T	rs34834099	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:151502427C>T	ENST00000271636.7	+	12	2282	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	711	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGGGGCAGCGGCGGGCCGC	0.652													C|||	78	0.0155751	0.0008	0.0231	5008	,	,		18157	0.0		0.0537	False		,,,				2504	0.0072																0			1						C	TRP/ARG	51,4353		0,51,2151	28.0	35.0	32.0		2149	3.2	1.0	1	dbSNP_126	32	536,8062		19,498,3782	yes	missense	CGN	NM_020770.2	101	19,549,5933	TT,TC,CC		6.234,1.158,4.5147	probably-damaging	717/1204	151502427	587,12415	2202	4299	6501	149769051	SO:0001583	missense	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.2149C>T	1.37:g.151502427C>T	ENSP00000271636:p.Arg717Trp	Somatic		Capture	Illumina HiSeq	Phase_I	149769051	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	CCDS999.1	54	0.024725274725274724	1	0.0020325203252032522	7	0.019337016574585635	0	0.0	46	0.06068601583113457	C	15.44	2.834621	0.50951	0.01158	0.06234	ENSG00000143375	ENST00000271636	T	0.66280	-0.2	5.27	3.25	0.37280	.	0.472495	0.21879	N	0.067773	T	0.59810	0.2221	M	0.63428	1.95	0.33704	P	0.385058	D	0.89917	1.0	D	0.70016	0.967	T	0.64002	-0.6509	9	0.87932	D	0	-10.0013	3.549	0.07839	0.1774:0.561:0.1711:0.0904	rs34834099	711	Q9P2M7	CING_HUMAN	W	717	ENSP00000271636:R717W	ENSP00000271636:R717W	R	+	1	2	CGN	149769051	0.893000	0.30496	0.984000	0.44739	0.362000	0.29581	0.142000	0.16096	1.184000	0.42957	-0.309000	0.09137	CGG		CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770	
DCST1	149095	hgsc.bcm.edu	37	1	155019710	155019710	+	Missense_Mutation	SNP	A	A	C	rs11264300	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:155019710A>C	ENST00000295542.1	+	14	1630	c.1534A>C	c.(1534-1536)Atg>Ctg	p.M512L	DCST1_ENST00000392480.1_Missense_Mutation_p.M512L|DCST1_ENST00000368419.2_Missense_Mutation_p.M512L|RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000423025.2_Missense_Mutation_p.M487L	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	512			M -> L (in dbSNP:rs11264300). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGGAGACTCCATGCTAGCCCG	0.532													A|||	2777	0.554513	0.3858	0.5865	5008	,	,		18637	0.8849		0.3569	False		,,,				2504	0.6227																0			1						A	LEU/MET,LEU/MET	1798,2608	527.6+/-372.2	350,1098,755	88.0	86.0	87.0		1459,1534	3.7	1.0	1	dbSNP_120	87	2984,5616	462.0+/-365.6	524,1936,1840	yes	missense,missense	DCST1	NM_001143687.2,NM_152494.3	15,15	874,3034,2595	CC,CA,AA		34.6977,40.808,36.7676	benign,benign	487/682,512/707	155019710	4782,8224	2203	4300	6503	153286334	SO:0001583	missense	149095			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1534A>C	1.37:g.155019710A>C	ENSP00000295542:p.Met512Leu	Somatic		Capture	Illumina HiSeq	Phase_I	153286334	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	CCDS1083.1	1163	0.5325091575091575	179	0.3638211382113821	193	0.5331491712707183	517	0.9038461538461539	274	0.36147757255936674	A	11.83	1.756878	0.31137	0.40808	0.346977	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	4.88	3.73	0.42828	Dendritic cell-specific transmembrane protein-like (1);	0.190127	0.51477	N	0.000086	T	0.06416	0.0165	L	0.31420	0.93	0.36215	P	0.148416	B;B	0.16166	0.016;0.016	B;B	0.18561	0.022;0.022	T	0.24048	-1.0171	9	0.06494	T	0.89	-31.4022	8.753	0.34629	0.8085:0.1915:0.0:0.0	rs11264300;rs52800761;rs60521342;rs11264300	487;512	E9PHV3;Q5T197	.;DCST1_HUMAN	L	512;512;487;512	ENSP00000295542:M512L;ENSP00000376271:M512L;ENSP00000387369:M487L;ENSP00000357404:M512L	ENSP00000295542:M512L	M	+	1	0	DCST1	153286334	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	3.293000	0.51779	0.960000	0.38005	0.533000	0.62120	ATG		DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494	
OR6N1	128372	hgsc.bcm.edu	37	1	158735892	158735892	+	Missense_Mutation	SNP	A	A	G	rs857827	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:158735892A>G	ENST00000335094.2	-	1	600	c.581T>C	c.(580-582)aTa>aCa	p.I194T		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	194			I -> T (in dbSNP:rs857827). {ECO:0000269|PubMed:12213199}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TAGGACATTTATAGACGTATC	0.473													A|||	3345	0.667931	0.7784	0.7839	5008	,	,		20865	0.6171		0.7217	False		,,,				2504	0.4335																0			1						A	THR/ILE	3436,970	731.3+/-410.3	1329,778,96	105.0	111.0	109.0		581	3.7	0.8	1	dbSNP_86	109	6162,2438	697.1+/-404.9	2217,1728,355	yes	missense	OR6N1	NM_001005185.1	89	3546,2506,451	GG,GA,AA		28.3488,22.0154,26.2033	benign	194/313	158735892	9598,3408	2203	4300	6503	157002516	SO:0001583	missense	128372			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.581T>C	1.37:g.158735892A>G	ENSP00000335535:p.Ile194Thr	Somatic		Capture	Illumina HiSeq	Phase_I	157002516	Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	CCDS30905.1	1561	0.7147435897435898	376	0.7642276422764228	286	0.7900552486187845	344	0.6013986013986014	555	0.7321899736147758	A	4.870	0.161768	0.09287	0.779846	0.716512	ENSG00000197403	ENST00000335094	T	0.00183	8.6	4.78	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.459103	0.18288	N	0.145796	T	0.00039	0.0001	L	0.27944	0.81	0.50632	P	1.1300000000002974E-4	B	0.06786	0.001	B	0.06405	0.002	T	0.13818	-1.0495	9	0.30078	T	0.28	-8.2149	4.054	0.09808	0.6369:0.1797:0.1834:0.0	rs857827;rs17698061;rs61135327;rs857827	194	Q8NGY5	OR6N1_HUMAN	T	194	ENSP00000335535:I194T	ENSP00000335535:I194T	I	-	2	0	OR6N1	157002516	0.000000	0.05858	0.805000	0.32314	0.908000	0.53690	0.391000	0.20784	0.836000	0.34901	0.533000	0.62120	ATA		OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185	
DPT	1805	hgsc.bcm.edu	37	1	168698173	168698173	+	Silent	SNP	C	C	T	rs1052591	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:168698173C>T	ENST00000367817.3	-	1	329	c.240G>A	c.(238-240)acG>acA	p.T80T		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	80	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					GGCTCTGTGGCGTGGGCATGC	0.612													c|||	1590	0.317492	0.2519	0.3141	5008	,	,		21034	0.1637		0.5129	False		,,,				2504	0.3661																0			1						T		1438,2968	467.2+/-354.7	253,932,1018	158.0	126.0	137.0		240	-10.0	0.4	1	dbSNP_86	137	4658,3942	603.9+/-394.7	1281,2096,923	no	coding-synonymous	DPT	NM_001937.4		1534,3028,1941	TT,TC,CC		45.8372,32.6373,46.8707		80/202	168698173	6096,6910	2203	4300	6503	166964797	SO:0001819	synonymous_variant	1805			BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.240G>A	1.37:g.168698173C>T		Somatic		Capture	Illumina HiSeq	Phase_I	166964797	A8K981|Q8N4R2|Q9UIX8	Silent	SNP	ENST00000367817.3	37	CCDS1275.1																																																																																				DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937	
KIF21B	23046	hgsc.bcm.edu	37	1	200972808	200972808	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:200972808T>C	ENST00000422435.2	-	8	1434	c.1118A>G	c.(1117-1119)aAg>aGg	p.K373R	KIF21B_ENST00000461742.2_Missense_Mutation_p.K373R|KIF21B_ENST00000360529.5_Missense_Mutation_p.K373R|KIF21B_ENST00000332129.2_Missense_Mutation_p.K373R	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	373					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CACTACCACCTTGTTCTTGAT	0.542																																																	0			1											193.0	148.0	163.0					1																	200972808		2203	4300	6503	199239431	SO:0001583	missense	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1118A>G	1.37:g.200972808T>C	ENSP00000411831:p.Lys373Arg	Somatic		Capture	Illumina HiSeq	Phase_I	199239431	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	t	16.77	3.215667	0.58452	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.19	5.19	0.71726	Kinesin, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	L	0.52573	1.65	0.52501	D	0.999952	D;D;B;D	0.56746	0.961;0.961;0.006;0.977	P;P;B;P	0.51974	0.489;0.489;0.005;0.686	T	0.73132	-0.4079	10	0.52906	T	0.07	.	9.5798	0.39481	0.0:0.0786:0.0:0.9214	.	373;373;373;373	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	R	373	ENSP00000328494:K373R;ENSP00000353724:K373R;ENSP00000433808:K373R;ENSP00000411831:K373R	ENSP00000328494:K373R	K	-	2	0	KIF21B	199239431	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.128000	0.64733	1.959000	0.56917	0.524000	0.50904	AAG		KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332	
FLVCR1	28982	hgsc.bcm.edu	37	1	213068595	213068595	+	Missense_Mutation	SNP	C	C	T	rs3207090	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:213068595C>T	ENST00000366971.4	+	10	1829	c.1631C>T	c.(1630-1632)aCg>aTg	p.T544M	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	544			T -> M (in dbSNP:rs3207090). {ECO:0000269|PubMed:15489334}.		blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GAACCAAAAACGGTTATGTTG	0.383													C|||	1900	0.379393	0.1316	0.2781	5008	,	,		18284	0.4583		0.5	False		,,,				2504	0.5808				Esophageal Squamous(199;2235 2952 19233 26256)												0			1						C	MET/THR	920,3486	351.6+/-311.3	102,716,1385	116.0	108.0	111.0		1631	-2.6	0.0	1	dbSNP_105	111	4086,4514	560.3+/-387.6	986,2114,1200	yes	missense	FLVCR1	NM_014053.3	81	1088,2830,2585	TT,TC,CC		47.5116,20.8806,38.4899	possibly-damaging	544/556	213068595	5006,8000	2203	4300	6503	211135218	SO:0001583	missense	28982			AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.1631C>T	1.37:g.213068595C>T	ENSP00000355938:p.Thr544Met	Somatic		Capture	Illumina HiSeq	Phase_I	211135218	Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	CCDS1510.1	848|848	0.3882783882783883|0.3882783882783883	85|85	0.17276422764227642|0.17276422764227642	120|120	0.3314917127071823|0.3314917127071823	273|273	0.4772727272727273|0.4772727272727273	370|370	0.48812664907651715|0.48812664907651715	C|C	5.834|5.834	0.338073|0.338073	0.11013|0.11013	0.208806|0.208806	0.475116|0.475116	ENSG00000162769|ENSG00000162769	ENST00000419102|ENST00000366971	.|D	.|0.82619	.|-1.63	4.88|4.88	-2.58|-2.58	0.06228|0.06228	.|.	.|1.686840	.|0.03088	.|N	.|0.159422	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	P|P	0.0|0.0	.|P	.|0.45634	.|0.863	.|B	.|0.35240	.|0.198	T|T	0.26883|0.26883	-1.0090|-1.0090	4|9	.|0.59425	.|D	.|0.04	-16.4378|-16.4378	3.3478|3.3478	0.07141|0.07141	0.3494:0.2632:0.0:0.3874|0.3494:0.2632:0.0:0.3874	rs3207090;rs17857350;rs52790363;rs60120981;rs3207090|rs3207090;rs17857350;rs52790363;rs60120981;rs3207090	.|544	.|Q9Y5Y0	.|FLVC1_HUMAN	W|M	343|544	.|ENSP00000355938:T544M	.|ENSP00000355938:T544M	R|T	+|+	1|2	2|0	FLVCR1|FLVCR1	211135218|211135218	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.016000|0.016000	0.09150|0.09150	-0.358000|-0.358000	0.07641|0.07641	-0.118000|-0.118000	0.11851|0.11851	-0.274000|-0.274000	0.10170|0.10170	CGG|ACG		FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053	
AGT	183	hgsc.bcm.edu	37	1	230845794	230845794	+	Missense_Mutation	SNP	A	A	G	rs699	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:230845794A>G	ENST00000366667.4	-	2	1017	c.803T>C	c.(802-804)aTg>aCg	p.M268T	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	268			M -> I (in dbSNP:rs11568053).|M -> T (associated with essential hypertension and pre-eclampsia; dbSNP:rs699). {ECO:0000269|PubMed:1394429, ECO:0000269|PubMed:8513325}.		activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ACTGGCTCCCATCAGGGAGCA	0.547													G|||	3531	0.705072	0.9032	0.6354	5008	,	,		18819	0.8532		0.4115	False		,,,				2504	0.636																0			1	GRCh37	CM920010	AGT	M	rs699	G	THR/MET	3643,763	308.8+/-290.8	1504,635,64	82.0	91.0	88.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	803	-0.4	0.0	1	dbSNP_36	88	3662,4938	620.8+/-397.1	801,2060,1439	yes	missense	AGT	NM_000029.3	81	2305,2695,1503	GG,GA,AA		42.5814,17.3173,43.8336	benign	268/486	230845794	7305,5701	2203	4300	6503	228912417	SO:0001583	missense	189			K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.803T>C	1.37:g.230845794A>G	ENSP00000355627:p.Met268Thr	Somatic		Capture	Illumina HiSeq	Phase_I	228912417	Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	37	CCDS1585.1	1446	0.6620879120879121	427	0.8678861788617886	230	0.6353591160220995	479	0.8374125874125874	310	0.40897097625329815	G	0.001	-2.932260	0.00053	0.826827	0.425814	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.86694	-2.16	5.1	-0.372	0.12520	Serpin domain (3);	0.941754	0.08896	N	0.877893	T	0.00012	0.0000	N	0.00483	-1.445	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32481	-0.9905	9	0.10636	T	0.68	.	5.2545	0.15540	0.2662:0.0:0.5073:0.2265	rs699;rs4714;rs3182295;rs17856353;rs61617185;rs699	268;268;268	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	T	268;186	ENSP00000355627:M268T	ENSP00000355627:M268T	M	-	2	0	AGT	228912417	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.431000	0.21444	-0.242000	0.09667	-0.733000	0.03571	ATG		AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029	
RYR2	6262	hgsc.bcm.edu	37	1	237811895	237811895	+	Silent	SNP	G	G	A	rs533068485	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:237811895G>A	ENST00000366574.2	+	49	7811	c.7494G>A	c.(7492-7494)gcG>gcA	p.A2498A	RYR2_ENST00000542537.1_Silent_p.A2482A|RYR2_ENST00000360064.6_Silent_p.A2496A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2498	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCTCCGGGCGGCTGCTTCTT	0.463													g|||	2	0.000399361	0.0	0.0014	5008	,	,		17635	0.0		0.001	False		,,,				2504	0.0																0			1											65.0	60.0	61.0					1																	237811895		1900	4115	6015	235878518	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7494G>A	1.37:g.237811895G>A		Somatic		Capture	Illumina HiSeq	Phase_I	235878518	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
AHCTF1	25909	hgsc.bcm.edu	37	1	247014368	247014368	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:247014368C>T	ENST00000391829.2	-	33	5063	c.4940G>A	c.(4939-4941)aGt>aAt	p.S1647N	AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1656N|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.S1682N			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1647	Disordered. {ECO:0000250}.|Mediates transcriptional activity. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTTTGGTCACTAGTTACGGC	0.358																																					Colon(145;197 1800 4745 15099 26333)												0			1											118.0	116.0	116.0					1																	247014368		2203	4300	6503	245080991	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4940G>A	1.37:g.247014368C>T	ENSP00000375705:p.Ser1647Asn	Somatic		Capture	Illumina HiSeq	Phase_I	245080991	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37		.	.	.	.	.	.	.	.	.	.	C	7.793	0.711961	0.15306	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.34859	1.34;1.35;1.35	6.17	2.87	0.33458	.	0.338343	0.32918	N	0.005491	T	0.26810	0.0656	L	0.52364	1.645	0.21020	N	0.9998	P;B;B	0.39759	0.687;0.047;0.028	B;B;B	0.34779	0.189;0.032;0.014	T	0.10451	-1.0629	10	0.22109	T	0.4	-5.0371	9.6216	0.39725	0.0:0.7363:0.1205:0.1432	.	508;1682;1647	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	N	1682;1656;1647	ENSP00000355464:S1682N;ENSP00000355465:S1656N;ENSP00000375705:S1647N	ENSP00000355465:S1656N	S	-	2	0	AHCTF1	245080991	0.944000	0.32072	0.416000	0.26546	0.429000	0.31625	0.906000	0.28517	0.921000	0.36994	0.655000	0.94253	AGT		AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446	
EPS8L2	64787	hgsc.bcm.edu	37	11	720197	720197	+	Silent	SNP	C	C	T	rs3087546	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr11:720197C>T	ENST00000533256.1	+	6	676	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	EPS8L2_ENST00000526198.1_Silent_p.L101L|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Silent_p.L101L|EPS8L2_ENST00000530636.1_Silent_p.L101L			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	101	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGACCAGTCGCTGCGGCTGCT	0.657													C|||	2463	0.491813	0.5651	0.647	5008	,	,		17050	0.2222		0.5457	False		,,,				2504	0.5051																0			11						C		2361,2045	601.6+/-389.7	622,1117,464	58.0	49.0	52.0		301	0.3	0.4	11	dbSNP_102	52	5037,3563	623.5+/-397.5	1480,2077,743	no	coding-synonymous	EPS8L2	NM_022772.3		2102,3194,1207	TT,TC,CC		41.4302,46.414,43.1186		101/716	720197	7398,5608	2203	4300	6503	710197	SO:0001819	synonymous_variant	64787			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.301C>T	11.37:g.720197C>T		Somatic		Capture	Illumina HiSeq	Phase_I	710197	B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	37	CCDS31328.1																																																																																				EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772	
OR51A7	119687	hgsc.bcm.edu	37	11	4928866	4928866	+	Silent	SNP	C	C	T	rs7941509	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr11:4928866C>T	ENST00000359350.4	+	1	267	c.267C>T	c.(265-267)gcC>gcT	p.A89A	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTTCAATGCCATGGGAATTT	0.453													C|||	1995	0.398363	0.2625	0.3919	5008	,	,		21957	0.0804		0.6143	False		,,,				2504	0.6922																0			11						C		1333,3069	445.7+/-347.8	197,939,1065	153.0	131.0	138.0		267	-2.3	0.2	11	dbSNP_116	138	5302,3294	646.7+/-400.3	1637,2028,633	no	coding-synonymous	OR51A7	NM_001004749.1		1834,2967,1698	TT,TC,CC		38.3201,30.2817,48.9537		89/313	4928866	6635,6363	2201	4298	6499	4885442	SO:0001819	synonymous_variant	119687			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.267C>T	11.37:g.4928866C>T		Somatic		Capture	Illumina HiSeq	Phase_I	4885442	Q6IFH8	Silent	SNP	ENST00000359350.4	37	CCDS31364.1																																																																																				OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749	
TRIM66	9866	hgsc.bcm.edu	37	11	8662516	8662516	+	Missense_Mutation	SNP	T	T	C	rs11042023	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr11:8662516T>C	ENST00000299550.6	-	9	1165	c.971A>G	c.(970-972)cAc>cGc	p.H324R	TRIM66_ENST00000402157.2_Missense_Mutation_p.H322R	NM_014818.1	NP_055633.1	O15016	TRI66_HUMAN	tripartite motif containing 66	324						aggresome (GO:0016235)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|kidney(1)|lung(1)|skin(2)	9						TGGGGAGCAGTGGGAGCAGCA	0.622													T|||	2630	0.52516	0.5166	0.5836	5008	,	,		16172	0.4028		0.6302	False		,,,				2504	0.5133																0			11						T	ARG/HIS	739,645		199,341,152	44.0	45.0	45.0		971	5.1	1.0	11	dbSNP_120	45	2089,1093		686,717,188	yes	missense	TRIM66	NM_014818.1	29	885,1058,340	CC,CT,TT		34.3495,46.604,38.064	probably-damaging	324/1217	8662516	2828,1738	692	1591	2283	8619092	SO:0001583	missense	9866			AB002296		11p15.4	2013-01-28	2011-01-25		ENSG00000166436	ENSG00000166436		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"""	29005	protein-coding gene	gene with protein product		612000	"""chromosome 11 open reading frame 29"", ""tripartite motif-containing 66"""	C11orf29		9205841	Standard	NM_014818		Approved	KIAA0298, TIF1D	uc010rbo.2	O15016	OTTHUMG00000150481	ENST00000299550.6:c.971A>G	11.37:g.8662516T>C	ENSP00000299550:p.His324Arg	Somatic		Capture	Illumina HiSeq	Phase_I	8619092	Q9BQQ4	Missense_Mutation	SNP	ENST00000299550.6	37		1176	0.5384615384615384	258	0.524390243902439	200	0.5524861878453039	239	0.4178321678321678	479	0.6319261213720316	T	19.19	3.779607	0.70107	0.53396	0.656505	ENSG00000166436	ENST00000299550;ENST00000402157	T;T	0.18174	2.23;2.23	5.1	5.1	0.69264	.	0.000000	0.50627	D	0.000104	T	0.00012	0.0000	M	0.69823	2.125	0.32774	P	0.503443	D	0.76494	0.999	D	0.80764	0.994	T	0.35425	-0.9789	9	0.30078	T	0.28	-15.8813	14.8856	0.70567	0.0:0.0:0.0:1.0	rs11042023;rs52817908;rs58678299;rs11042023	324	O15016	TRI66_HUMAN	R	324;322	ENSP00000299550:H324R;ENSP00000384876:H322R	ENSP00000299550:H324R	H	-	2	0	TRIM66	8619092	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.486000	0.66856	1.922000	0.55676	0.397000	0.26171	CAC		TRIM66-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_084529	
ZBED5	58486	hgsc.bcm.edu	37	11	10876209	10876209	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr11:10876209T>C	ENST00000432999.2	-	3	782	c.284A>G	c.(283-285)aAt>aGt	p.N95S	ZBED5_ENST00000525350.1_Intron|ZBED5_ENST00000413761.2_Missense_Mutation_p.N95S	NM_001143667.1|NM_021211.3	NP_001137139.1|NP_067034.2	Q49AG3	ZBED5_HUMAN	zinc finger, BED-type containing 5	95							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)	4						TTTGTTGGAATTGGATATAAA	0.313																																																	0			11											54.0	49.0	51.0					11																	10876209		692	1589	2281	10832785	SO:0001583	missense	58486			AF205601		11p15.3	2013-05-03			ENSG00000236287	ENSG00000236287		"""Zinc fingers, BED-type"""	30803	protein-coding gene	gene with protein product		615251				10607616, 23533661	Standard	NM_021211		Approved	Buster1	uc009ygh.3	Q49AG3	OTTHUMG00000150341	ENST00000432999.2:c.284A>G	11.37:g.10876209T>C	ENSP00000398106:p.Asn95Ser	Somatic		Capture	Illumina HiSeq	Phase_I	10832785	B2RCC1|Q05D82|Q86WW3|Q9NT24|Q9UBJ4	Missense_Mutation	SNP	ENST00000432999.2	37		.	.	.	.	.	.	.	.	.	.	T	0.005	-2.214130	0.00289	.	.	ENSG00000236287	ENST00000432999;ENST00000413761;ENST00000526020	T;T;T	0.27890	2.96;2.96;1.64	4.29	-8.59	0.00893	.	0.705929	0.11623	N	0.545587	T	0.13543	0.0328	N	0.19112	0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.21109	-1.0255	10	0.15066	T	0.55	.	10.0039	0.41946	0.0:0.5005:0.3155:0.184	.	95	Q49AG3	ZBED5_HUMAN	S	95	ENSP00000398106:N95S;ENSP00000415939:N95S;ENSP00000433093:N95S	ENSP00000415939:N95S	N	-	2	0	ZBED5	10832785	0.113000	0.22115	0.004000	0.12327	0.505000	0.33919	-1.038000	0.03553	-2.760000	0.00370	-1.041000	0.02371	AAT		ZBED5-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000317691.1	NM_021211	
MUC15	143662	hgsc.bcm.edu	37	11	26584680	26584680	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr11:26584680T>C	ENST00000455601.2	-	3	945	c.827A>G	c.(826-828)gAc>gGc	p.D276G	MUC15_ENST00000529533.1_Missense_Mutation_p.D303G|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000527569.1_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.D303G|MUC15_ENST00000281268.8_Intron|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	276					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ATTTCTGTCGTCATAAAGTCG	0.403																																																	0			11											91.0	92.0	92.0					11																	26584680		2203	4300	6503	26541256	SO:0001583	missense	143662			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.827A>G	11.37:g.26584680T>C	ENSP00000397339:p.Asp276Gly	Somatic		Capture	Illumina HiSeq	Phase_I	26541256	B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.696186	0.68386	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000529533	T;T;T	0.47869	0.87;0.83;0.83	4.52	4.52	0.55395	.	0.000000	0.51477	D	0.000083	T	0.55386	0.1917	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.59820	-0.7382	10	0.72032	D	0.01	-5.892	13.1013	0.59222	0.0:0.0:0.0:1.0	.	276;303	Q8N387;E9PII6	MUC15_HUMAN;.	G	276;303;303	ENSP00000397339:D276G;ENSP00000416753:D303G;ENSP00000431983:D303G	ENSP00000416753:D303G	D	-	2	0	MUC15	26541256	1.000000	0.71417	0.993000	0.49108	0.942000	0.58702	4.557000	0.60782	1.787000	0.52448	0.528000	0.53228	GAC		MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650	
KIAA1549L	25758	hgsc.bcm.edu	37	11	33596419	33596419	+	Splice_Site	SNP	C	C	T	rs558721492		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr11:33596419C>T	ENST00000321505.4	+	9	3691	c.3511C>T	c.(3511-3513)Ccc>Tcc	p.P1171S	KIAA1549L_ENST00000389726.3_Splice_Site_p.P1177S|KIAA1549L_ENST00000265654.5_Splice_Site_p.P1177S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1171						integral component of membrane (GO:0016021)											GCAAGCTGACCGTAAGGGAAT	0.433																																																	0			11											138.0	131.0	133.0					11																	33596419		1991	4169	6160	33552995	SO:0001630	splice_region_variant	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3511+1C>T	11.37:g.33596419C>T		Somatic		Capture	Illumina HiSeq	Phase_I	33552995	B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503560	0.85176	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.6	5.6	0.85130	.	0.049055	0.85682	D	0.000000	T	0.80444	0.4624	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81680	-0.0823	9	0.72032	D	0.01	-18.9313	19.6091	0.95594	0.0:1.0:0.0:0.0	.	1177;1177	E9PAT2;Q6ZVL6-2	.;.	S	1171;1177;1177;1010	.	ENSP00000265654:P1177S	P	+	1	0	C11orf41	33552995	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.602000	0.61098	2.650000	0.89964	0.655000	0.94253	CCC		KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	Missense_Mutation
VPS37C	55048	hgsc.bcm.edu	37	11	60899364	60899364	+	Silent	SNP	G	G	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr11:60899364G>A	ENST00000301765.5	-	5	1228	c.996C>T	c.(994-996)ccC>ccT	p.P332P		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	332	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GGGGATAAGGGGGCTGCAGGG	0.682																																																	0			11											20.0	19.0	19.0					11																	60899364		1951	3827	5778	60655940	SO:0001819	synonymous_variant	55048			AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"""vacuolar protein sorting 37C (yeast)"""			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.996C>T	11.37:g.60899364G>A		Somatic		Capture	Illumina HiSeq	Phase_I	60655940	Q8N3K4	Silent	SNP	ENST00000301765.5	37	CCDS31573.1																																																																																				VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	NM_017966	
ROM1	6094	hgsc.bcm.edu	37	11	62381808	62381808	+	Silent	SNP	G	G	C	rs1801144	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr11:62381808G>C	ENST00000278833.3	+	2	1210	c.669G>C	c.(667-669)cgG>cgC	p.R223R	EML3_ENST00000394773.2_5'Flank|EML3_ENST00000529309.1_5'Flank|EML3_ENST00000494176.2_5'Flank|EML3_ENST00000278845.4_5'Flank|ROM1_ENST00000534093.1_Missense_Mutation_p.G14A	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	223					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						ACTCACCCCGGCCTTGCCTGC	0.597													G|||	863	0.172324	0.1203	0.1988	5008	,	,		17343	0.0427		0.3161	False		,,,				2504	0.2096																0			11						G		689,3715	287.8+/-279.5	51,587,1564	130.0	125.0	127.0		669	1.5	1.0	11	dbSNP_89	127	3096,5502	473.0+/-368.5	562,1972,1765	no	coding-synonymous	ROM1	NM_000327.3		613,2559,3329	CC,CG,GG		36.0084,15.6449,29.1109		223/352	62381808	3785,9217	2202	4299	6501	62138384	SO:0001819	synonymous_variant	6094			L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"""Tetraspanins"""	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.669G>C	11.37:g.62381808G>C		Somatic		Capture	Illumina HiSeq	Phase_I	62138384	B2R978	Silent	SNP	ENST00000278833.3	37	CCDS8024.1	419	0.19184981684981686	69	0.1402439024390244	85	0.23480662983425415	28	0.04895104895104895	237	0.31266490765171506	G	11.13	1.548416	0.27652	0.156449	0.360084	ENSG00000149489	ENST00000525801;ENST00000534093;ENST00000525947	.	.	.	5.38	1.46	0.22682	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.29058	-1.0024	4	0.87932	D	0	-15.2781	8.048	0.30562	0.3405:0.0:0.6595:0.0	rs1801144;rs17845151;rs17857955;rs61654907;rs1801144	.	.	.	A	14	.	ENSP00000433566:G14A	G	+	2	0	ROM1	62138384	0.997000	0.39634	1.000000	0.80357	0.939000	0.58152	0.287000	0.18920	0.266000	0.21894	0.462000	0.41574	GGC		ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394929.1	NM_000327	
NAALADL1	10004	hgsc.bcm.edu	37	11	64814952	64814952	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr11:64814952C>G	ENST00000358658.3	-	13	1621	c.1594G>C	c.(1594-1596)Gac>Cac	p.D532H	NAALADL1_ENST00000355721.3_Missense_Mutation_p.D491H|RN7SL114P_ENST00000582042.1_RNA|NAALADL1_ENST00000355369.2_Intron|NAALADL1_ENST00000339885.2_Intron|NAALADL1_ENST00000340252.4_Missense_Mutation_p.D583H|NAALADL1_ENST00000356632.3_Missense_Mutation_p.D497H|NAALADL1_ENST00000528884.1_Intron|NAALADL1_ENST00000526799.1_Intron	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	532	NAALADase.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CTCACCCGGTCATAGGTATAG	0.602																																																	0			11											49.0	41.0	44.0					11																	64814952		2193	4285	6478	64571528	SO:0001583	missense	10004			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.1594G>C	11.37:g.64814952C>G	ENSP00000351484:p.Asp532His	Somatic		Capture	Illumina HiSeq	Phase_I	64571528	C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152122	0.57259	.	.	ENSG00000168060	ENST00000358658;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632;ENST00000530139	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	4.25	4.25	0.50352	Peptidase M28 (1);	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.63765	-0.6563	10	0.52906	T	0.07	-26.5802	14.1727	0.65519	0.0:1.0:0.0:0.0	.	532	Q9UQQ1	NALDL_HUMAN	H	532;532;583;491;497;8	ENSP00000351484:D532H;ENSP00000344244:D583H;ENSP00000347955:D491H;ENSP00000349045:D497H;ENSP00000434233:D8H	ENSP00000344244:D583H	D	-	1	0	NAALADL1	64571528	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	6.376000	0.73141	2.203000	0.70933	0.455000	0.32223	GAC		NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468	
RSF1	51773	hgsc.bcm.edu	37	11	77386126	77386126	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr11:77386126C>T	ENST00000308488.6	-	14	3819	c.3517G>A	c.(3517-3519)Gat>Aat	p.D1173N	RSF1_ENST00000360355.2_Missense_Mutation_p.D1142N|RSF1_ENST00000480887.1_Missense_Mutation_p.D921N			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1173	Arg-rich.				CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCATCATCATCGGAATATTTT	0.413																																																	0			11											123.0	119.0	120.0					11																	77386126		2200	4292	6492	77063774	SO:0001583	missense	51773			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3517G>A	11.37:g.77386126C>T	ENSP00000311513:p.Asp1173Asn	Somatic		Capture	Illumina HiSeq	Phase_I	77063774	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094334	0.94149	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355	D;D;D	0.85411	-1.94;-1.98;-1.94	4.97	4.97	0.65823	.	0.000000	0.53938	D	0.000055	D	0.86112	0.5855	L	0.34521	1.04	0.51767	D	0.999935	D	0.71674	0.998	P	0.55011	0.766	D	0.87755	0.2594	10	0.66056	D	0.02	-17.5344	18.0282	0.89275	0.0:1.0:0.0:0.0	.	1173	Q96T23	RSF1_HUMAN	N	1173;921;1142	ENSP00000311513:D1173N;ENSP00000434509:D921N;ENSP00000353511:D1142N	ENSP00000311513:D1173N	D	-	1	0	RSF1	77063774	1.000000	0.71417	0.998000	0.56505	0.881000	0.50899	6.262000	0.72514	2.575000	0.86900	0.650000	0.86243	GAT		RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578	
GAB2	9846	hgsc.bcm.edu	37	11	77930449	77930449	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr11:77930449A>G	ENST00000361507.4	-	10	1985	c.1900T>C	c.(1900-1902)Tcc>Ccc	p.S634P	GAB2_ENST00000340149.2_Missense_Mutation_p.S596P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	634					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GAGGTGACGGATGAAGTAGAT	0.567																																																	0			11											120.0	97.0	105.0					11																	77930449		2200	4292	6492	77608097	SO:0001583	missense	9846			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1900T>C	11.37:g.77930449A>G	ENSP00000354952:p.Ser634Pro	Somatic		Capture	Illumina HiSeq	Phase_I	77608097	A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	A	33	5.282382	0.95489	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.25085	1.82;1.82	5.35	5.35	0.76521	.	0.000000	0.85682	U	0.000000	T	0.51822	0.1697	M	0.76328	2.33	0.58432	D	0.999999	D	0.76494	0.999	D	0.75484	0.986	T	0.55792	-0.8085	10	0.66056	D	0.02	-13.1684	15.6396	0.76984	1.0:0.0:0.0:0.0	.	634	Q9UQC2	GAB2_HUMAN	P	596;634	ENSP00000343959:S596P;ENSP00000354952:S634P	ENSP00000343959:S596P	S	-	1	0	GAB2	77608097	1.000000	0.71417	0.109000	0.21407	0.971000	0.66376	8.910000	0.92685	2.150000	0.67090	0.383000	0.25322	TCC		GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491	
ANKK1	255239	hgsc.bcm.edu	37	11	113270789	113270789	+	Missense_Mutation	SNP	G	G	A	rs374434021		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr11:113270789G>A	ENST00000303941.3	+	8	2192	c.2098G>A	c.(2098-2100)Gcc>Acc	p.A700T		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	700							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CCACCTGGCCGCCCTCAAGGG	0.627																																																	0			11						G	THR/ALA	0,4036		0,0,2018	30.0	35.0	33.0		2098	1.6	0.0	11		33	1,8343		0,1,4171	no	missense	ANKK1	NM_178510.1	58	0,1,6189	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	700/766	113270789	1,12379	2018	4172	6190	112775999	SO:0001583	missense	255239			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.2098G>A	11.37:g.113270789G>A	ENSP00000306678:p.Ala700Thr	Somatic		Capture	Illumina HiSeq	Phase_I	112775999		Missense_Mutation	SNP	ENST00000303941.3	37	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	9.628	1.135634	0.21123	0.0	1.2E-4	ENSG00000170209	ENST00000303941	T	0.72051	-0.62	4.53	1.63	0.23807	Ankyrin repeat-containing domain (3);	0.122146	0.36444	N	0.002599	T	0.79064	0.4383	M	0.79926	2.475	0.09310	N	0.999998	D	0.89917	1.0	P	0.61070	0.883	T	0.69113	-0.5231	10	0.36615	T	0.2	-11.8511	9.5778	0.39468	0.0884:0.1289:0.7828:0.0	.	700	Q8NFD2	ANKK1_HUMAN	T	700	ENSP00000306678:A700T	ENSP00000306678:A700T	A	+	1	0	ANKK1	112775999	0.019000	0.18553	0.034000	0.17996	0.025000	0.11179	1.793000	0.38764	0.183000	0.20059	-1.130000	0.01982	GCC		ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510	
APOA4	337	hgsc.bcm.edu	37	11	116691634	116691634	+	Missense_Mutation	SNP	C	C	A	rs5110	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr11:116691634C>A	ENST00000357780.3	-	3	1254	c.1140G>T	c.(1138-1140)caG>caT	p.Q380H		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	380	Gln/Glu-rich.		Q -> H (in allele APOA-IV*2 and allele APOA-IV*0A; associated with E-187 in allele APOA-IV*0A; dbSNP:rs5110). {ECO:0000269|PubMed:10391210, ECO:0000269|PubMed:15108119, ECO:0000269|PubMed:1677358, ECO:0000269|PubMed:2065039, ECO:0000269|PubMed:2351649, ECO:0000269|PubMed:3036793, ECO:0000269|PubMed:3080432}.		cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		gctgctcctgctgctgttcct	0.612													C|||	119	0.023762	0.0038	0.0418	5008	,	,		19562	0.0		0.0656	False		,,,				2504	0.0194																0			11	GRCh37	CM984162	APOA4	M	rs5110	C	HIS/GLN	78,4324	68.7+/-106.4	1,76,2124	54.0	47.0	50.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1140	0.1	0.1	11	dbSNP_52	50	712,7876	174.9+/-225.1	24,664,3606	yes	missense	APOA4	NM_000482.3	24	25,740,5730	AA,AC,CC		8.2906,1.7719,6.0816	benign	380/397	116691634	790,12200	2201	4294	6495	116196844	SO:0001583	missense	337				CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.1140G>T	11.37:g.116691634C>A	ENSP00000350425:p.Gln380His	Somatic		Capture	Illumina HiSeq	Phase_I	116196844	A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	CCDS31681.1	72	0.03296703296703297	2	0.0040650406504065045	21	0.058011049723756904	0	0.0	49	0.06464379947229551	C	4.510	0.094555	0.08632	0.017719	0.082906	ENSG00000110244	ENST00000357780	T	0.74106	-0.81	1.25	0.139	0.14798	.	.	.	.	.	T	0.05090	0.0136	N	0.22421	0.69	0.09310	N	1	B	0.24533	0.105	B	0.20955	0.032	T	0.02471	-1.1154	9	0.20046	T	0.44	.	4.2239	0.10572	0.4256:0.5744:0.0:0.0	rs5110;rs3181830;rs9282881;rs17250981;rs5110	380	P06727	APOA4_HUMAN	H	380	ENSP00000350425:Q380H	ENSP00000350425:Q380H	Q	-	3	2	APOA4	116196844	0.000000	0.05858	0.111000	0.21465	0.022000	0.10575	-0.722000	0.04958	0.041000	0.15688	0.460000	0.39030	CAG		APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482	
APOA4	337	hgsc.bcm.edu	37	11	116691861	116691861	+	Missense_Mutation	SNP	G	G	T	rs150264487		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr11:116691861G>T	ENST00000357780.3	-	3	1027	c.913C>A	c.(913-915)Cgc>Agc	p.R305S		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	305	13 X 22 AA approximate tandem repeats.		R -> C (in Budapest-1). {ECO:0000269|PubMed:7728150}.		cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCCACCCGGCGTCGGAACTCC	0.647																																																	0			11											45.0	49.0	47.0					11																	116691861		2201	4292	6493	116197071	SO:0001583	missense	337				CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.913C>A	11.37:g.116691861G>T	ENSP00000350425:p.Arg305Ser	Somatic		Capture	Illumina HiSeq	Phase_I	116197071	A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	G	9.098	1.003367	0.19121	.	.	ENSG00000110244	ENST00000357780	T	0.72394	-0.65	4.95	1.65	0.23941	Apolipoprotein/apolipophorin (1);	0.641907	0.13771	N	0.363918	T	0.81955	0.4932	M	0.83312	2.635	0.09310	N	1	D	0.69078	0.997	D	0.66351	0.943	T	0.70223	-0.4931	10	0.54805	T	0.06	-11.18	10.0411	0.42158	0.0:0.1062:0.4824:0.4114	.	305	P06727	APOA4_HUMAN	S	305	ENSP00000350425:R305S	ENSP00000350425:R305S	R	-	1	0	APOA4	116197071	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	-0.478000	0.06575	0.484000	0.27630	-0.233000	0.12211	CGC		APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482	
KIRREL3	84623	hgsc.bcm.edu	37	11	126316659	126316659	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr11:126316659C>T	ENST00000525144.2	-	9	1369	c.1120G>A	c.(1120-1122)Gga>Aga	p.G374R	KIRREL3_ENST00000525704.2_Missense_Mutation_p.G374R|KIRREL3_ENST00000529097.2_Missense_Mutation_p.G374R	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	374	Ig-like C2-type 4.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CTCACCACTCCGGAGCCCCGC	0.632																																																	0			11											22.0	25.0	24.0					11																	126316659		2000	4154	6154	125821869	SO:0001583	missense	84623			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1120G>A	11.37:g.126316659C>T	ENSP00000435466:p.Gly374Arg	Somatic		Capture	Illumina HiSeq	Phase_I	125821869	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579106	0.28180	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.65916	-0.18;-0.18;-0.18	4.77	3.86	0.44501	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	N	0.10707	0.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.971	T	0.67309	-0.5703	10	0.66056	D	0.02	.	12.4402	0.55621	0.0:0.9167:0.0:0.0833	.	374;374;374	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	R	374	ENSP00000435466:G374R;ENSP00000434081:G374R;ENSP00000435094:G374R	ENSP00000435466:G374R	G	-	1	0	KIRREL3	125821869	0.767000	0.28508	0.082000	0.20525	0.106000	0.19336	2.703000	0.47110	0.997000	0.38969	0.297000	0.19635	GGA		KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531	
FLI1	2313	hgsc.bcm.edu	37	11	128680804	128680804	+	Missense_Mutation	SNP	C	C	T	rs531254948		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr11:128680804C>T	ENST00000527786.2	+	9	1769	c.1280C>T	c.(1279-1281)aCg>aTg	p.T427M	FLI1_ENST00000525560.1_Missense_Mutation_p.T234M|FLI1_ENST00000534087.2_Missense_Mutation_p.T394M|FLI1_ENST00000281428.8_Missense_Mutation_p.T361M|FLI1_ENST00000344954.6_Missense_Mutation_p.T394M	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	427					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ACCTCCCCCACGGGGGGAATC	0.567			T	EWSR1	Ewing sarcoma								C|||	1	0.000199681	0.0	0.0	5008	,	,		17766	0.0		0.0	False		,,,				2504	0.001							Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	0			11											104.0	105.0	105.0					11																	128680804		1968	4151	6119	128186014	SO:0001583	missense	2313			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.1280C>T	11.37:g.128680804C>T	ENSP00000433488:p.Thr427Met	Somatic		Capture	Illumina HiSeq	Phase_I	128186014	B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694545	0.68386	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.25085	1.82;2.41;2.42;2.41;2.42	5.46	5.46	0.80206	.	0.153135	0.64402	D	0.000020	T	0.42877	0.1222	M	0.65498	2.005	0.50313	D	0.999869	P;D;D	0.69078	0.863;0.98;0.997	P;B;P	0.54965	0.587;0.346;0.765	T	0.30995	-0.9959	10	0.87932	D	0	.	15.0422	0.71799	0.0:0.8586:0.1414:0.0	.	427;234;361	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	M	234;394;427;394;361	ENSP00000437124:T234M;ENSP00000339627:T394M;ENSP00000399985:T427M;ENSP00000432950:T394M;ENSP00000281428:T361M	ENSP00000281428:T361M	T	+	2	0	FLI1	128186014	0.996000	0.38824	0.994000	0.49952	0.984000	0.73092	5.803000	0.69129	2.840000	0.97914	0.655000	0.94253	ACG		FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017	
BMP6	654	hgsc.bcm.edu	37	6	7845412	7845412	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr6:7845412A>G	ENST00000283147.6	+	2	863	c.704A>G	c.(703-705)cAc>cGc	p.H235R		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	235					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.H235R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CAGCGACACCACAAAGAGTTC	0.458																																																	1	Substitution - Missense(1)	ovary(1)	6											134.0	132.0	133.0					6																	7845412		2203	4300	6503	7790411	SO:0001583	missense	654			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.704A>G	6.37:g.7845412A>G	ENSP00000283147:p.His235Arg	Somatic		Capture	Illumina HiSeq	Phase_I	7790411	Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.525973	0.44969	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.61859	0.07	5.41	5.41	0.78517	Transforming growth factor-beta, N-terminal (1);	0.048468	0.85682	D	0.000000	T	0.37237	0.0996	L	0.44542	1.39	0.80722	D	1	B	0.23442	0.085	B	0.29440	0.102	T	0.28808	-1.0032	10	0.25106	T	0.35	.	15.4422	0.75195	1.0:0.0:0.0:0.0	.	235	P22004	BMP6_HUMAN	R	157;235;198	ENSP00000283147:H235R	ENSP00000283147:H235R	H	+	2	0	BMP6	7790411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.735000	0.91549	2.044000	0.60594	0.455000	0.32223	CAC		BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718	
GPLD1	2822	hgsc.bcm.edu	37	6	24462992	24462992	+	Missense_Mutation	SNP	T	T	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr6:24462992T>A	ENST00000230036.1	-	11	963	c.853A>T	c.(853-855)Att>Ttt	p.I285F		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	285					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CCACATGCAATGAACAGAGGG	0.453																																																	0			6											139.0	137.0	138.0					6																	24462992		2203	4300	6503	24570971	SO:0001583	missense	2822			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.853A>T	6.37:g.24462992T>A	ENSP00000230036:p.Ile285Phe	Somatic		Capture	Illumina HiSeq	Phase_I	24570971	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.216202	0.39201	.	.	ENSG00000112293	ENST00000230036	T	0.68025	-0.3	5.92	5.92	0.95590	.	0.073640	0.53938	D	0.000055	T	0.68568	0.3015	M	0.78637	2.42	0.80722	D	1	D	0.61080	0.989	P	0.52856	0.711	T	0.70872	-0.4754	10	0.37606	T	0.19	-24.4559	13.8758	0.63651	0.0:0.0:0.0:1.0	.	285	P80108	PHLD_HUMAN	F	285	ENSP00000230036:I285F	ENSP00000230036:I285F	I	-	1	0	GPLD1	24570971	1.000000	0.71417	0.989000	0.46669	0.070000	0.16714	4.639000	0.61361	2.255000	0.74692	0.533000	0.62120	ATT		GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503	
NOTCH4	4855	hgsc.bcm.edu	37	6	32170369	32170369	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr6:32170369T>C	ENST00000375023.3	-	21	3377	c.3239A>G	c.(3238-3240)gAa>gGa	p.E1080G		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1080	EGF-like 27. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGTGGGGCCTTCAAAACCCTG	0.597																																																	0			6											16.0	21.0	19.0					6																	32170369		1447	2648	4095	32278347	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3239A>G	6.37:g.32170369T>C	ENSP00000364163:p.Glu1080Gly	Somatic		Capture	Illumina HiSeq	Phase_I	32278347	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.328321	0.60743	.	.	ENSG00000204301	ENST00000375023	D	0.87887	-2.31	5.14	5.14	0.70334	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.46145	D	0.000302	T	0.74076	0.3669	L	0.41356	1.27	0.80722	D	1	P	0.35107	0.484	B	0.32149	0.141	T	0.78316	-0.2251	10	0.49607	T	0.09	.	12.9575	0.58438	0.0:0.0:0.0:1.0	.	1080	Q99466	NOTC4_HUMAN	G	1080	ENSP00000364163:E1080G	ENSP00000364163:E1080G	E	-	2	0	NOTCH4	32278347	0.896000	0.30565	1.000000	0.80357	0.996000	0.88848	1.965000	0.40471	2.161000	0.67846	0.459000	0.35465	GAA		NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		
SLC26A8	116369	hgsc.bcm.edu	37	6	35923246	35923246	+	Missense_Mutation	SNP	T	T	C	rs2295852	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr6:35923246T>C	ENST00000490799.1	-	17	2268	c.1915A>G	c.(1915-1917)Att>Gtt	p.I639V	SLC26A8_ENST00000355574.2_Missense_Mutation_p.I639V|SLC26A8_ENST00000394602.2_Missense_Mutation_p.I534V	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ATCAGGTTAATGGAGGATGCT	0.463													N|||	2041	0.407548	0.6967	0.2867	5008	,	,		21471	0.2758		0.3529	False		,,,				2504	0.2945																0			6						C	VAL/ILE,VAL/ILE,VAL/ILE	2807,1599	496.2+/-363.5	886,1035,282	198.0	191.0	193.0		1915,1915,1600	-5.0	0.0	6	dbSNP_100	193	3003,5597	664.5+/-402.2	551,1901,1848	yes	missense,missense,missense	SLC26A8	NM_001193476.1,NM_052961.3,NM_138718.2	29,29,29	1437,2936,2130	CC,CT,TT		34.9186,36.2914,44.6717	benign,benign,benign	639/971,639/971,534/866	35923246	5810,7196	2203	4300	6503	36031224	SO:0001583	missense	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1915A>G	6.37:g.35923246T>C	ENSP00000417638:p.Ile639Val	Somatic		Capture	Illumina HiSeq	Phase_I	36031224		Missense_Mutation	SNP	ENST00000490799.1	37	CCDS4813.1	835	0.3823260073260073	322	0.6544715447154471	106	0.292817679558011	152	0.26573426573426573	255	0.33641160949868076	C	3.950	-0.012529	0.07727	0.637086	0.349186	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.94862	-3.16;-3.54;-3.16	5.01	-4.99	0.03010	Sulphate transporter/antisigma-factor antagonist STAS (3);	1.172630	0.06260	N	0.693768	T	0.72581	0.3478	L	0.31752	0.955	0.80722	P	0.0	B;B;B	0.15141	0.0;0.012;0.0	B;B;B	0.14023	0.001;0.01;0.001	T	0.67166	-0.5739	9	0.11485	T	0.65	.	2.4043	0.04409	0.1092:0.3104:0.1431:0.4373	rs2295852;rs17706470;rs52831325;rs58070509;rs2295852	639;534;221	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	V	639;534;639	ENSP00000417638:I639V;ENSP00000378100:I534V;ENSP00000347778:I639V	ENSP00000347778:I639V	I	-	1	0	SLC26A8	36031224	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.320000	0.02700	-1.280000	0.02402	-2.418000	0.00219	ATT		SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2		
GCM1	8521	hgsc.bcm.edu	37	6	52993290	52993290	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr6:52993290G>A	ENST00000259803.7	-	6	1236	c.1025C>T	c.(1024-1026)cCa>cTa	p.P342L	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	342					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TGGCTCCAATGGAAGCTGCTG	0.468																																																	0			6											68.0	74.0	72.0					6																	52993290		2203	4300	6503	53101249	SO:0001583	missense	8521			D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1025C>T	6.37:g.52993290G>A	ENSP00000259803:p.Pro342Leu	Somatic		Capture	Illumina HiSeq	Phase_I	53101249	Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.649173	0.67358	.	.	ENSG00000137270	ENST00000259803	T	0.77098	-1.07	5.73	4.86	0.63082	.	0.168763	0.41712	D	0.000834	T	0.55721	0.1938	L	0.36672	1.1	0.43133	D	0.994878	P	0.41673	0.759	B	0.38327	0.271	T	0.65121	-0.6245	10	0.72032	D	0.01	0.0486	10.2101	0.43136	0.1563:0.0:0.8437:0.0	.	342	Q9NP62	GCM1_HUMAN	L	342	ENSP00000259803:P342L	ENSP00000259803:P342L	P	-	2	0	GCM1	53101249	0.869000	0.29996	0.962000	0.40283	0.885000	0.51271	3.822000	0.55708	1.444000	0.47605	0.591000	0.81541	CCA		GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1		
CASP8AP2	9994	hgsc.bcm.edu	37	6	90581037	90581037	+	RNA	SNP	G	G	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr6:90581037G>A	ENST00000551025.1	+	0	7259									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTATTGGAGTGTCAGAAAAGA	0.343																																					Colon(187;1656 2025 17045 31481 39901)												0			6											85.0	81.0	82.0					6																	90581037		1796	4070	5866	90637758			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90581037G>A		Somatic		Capture	Illumina HiSeq	Phase_I	90637758		Missense_Mutation	SNP	ENST00000551025.1	37																																																																																					CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667	
RSPO3	84870	hgsc.bcm.edu	37	6	127476516	127476516	+	Silent	SNP	G	G	A	rs1892172	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr6:127476516G>A	ENST00000356698.4	+	4	1156	c.567G>A	c.(565-567)ctG>ctA	p.L189L	RSPO3_ENST00000368317.3_Silent_p.L189L	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	189	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		AGGGTAACCTGTGTCCCCCAA	0.438													g|||	2668	0.532748	0.5983	0.5231	5008	,	,		20533	0.494		0.5	False		,,,				2504	0.5245																0			6						A		2614,1792	641.7+/-397.5	789,1036,378	110.0	99.0	103.0		567	4.6	1.0	6	dbSNP_92	103	4583,4017	597.8+/-393.8	1220,2143,937	yes	coding-synonymous	RSPO3	NM_032784.3		2009,3179,1315	AA,AG,GG		46.7093,40.6718,44.664		189/273	127476516	7197,5809	2203	4300	6503	127518209	SO:0001819	synonymous_variant	84870			BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.567G>A	6.37:g.127476516G>A		Somatic		Capture	Illumina HiSeq	Phase_I	127518209	B2RC27|Q5VTV4|Q96K87	Silent	SNP	ENST00000356698.4	37	CCDS5135.1																																																																																				RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784	
NMBR	4829	hgsc.bcm.edu	37	6	142400020	142400020	+	Missense_Mutation	SNP	G	G	T	rs138994608	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr6:142400020G>T	ENST00000258042.1	-	2	583	c.443C>A	c.(442-444)cCc>cAc	p.P148H	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	148					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.P148H(1)		breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CATGTCCATGGGGTTAACGAT	0.463													G|||	39	0.00778754	0.0008	0.0058	5008	,	,		17607	0.0		0.0239	False		,,,				2504	0.0102																1	Substitution - Missense(1)	central_nervous_system(1)	6						G	HIS/PRO	34,4372	39.2+/-71.8	0,34,2169	58.0	49.0	52.0		443	5.6	1.0	6	dbSNP_134	52	281,8319	105.4+/-166.3	4,273,4023	yes	missense	NMBR	NM_002511.2	77	4,307,6192	TT,TG,GG		3.2674,0.7717,2.422	probably-damaging	148/391	142400020	315,12691	2203	4300	6503	142441713	SO:0001583	missense	4829				CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.443C>A	6.37:g.142400020G>T	ENSP00000258042:p.Pro148His	Somatic		Capture	Illumina HiSeq	Phase_I	142441713	E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	CCDS5196.1	24	0.01098901098901099	0	0.0	1	0.0027624309392265192	0	0.0	23	0.030343007915567283	G	27.4	4.826244	0.90955	0.007717	0.032674	ENSG00000135577	ENST00000258042	T	0.61510	0.1	5.59	5.59	0.84812	GPCR, rhodopsin-like superfamily (1);	0.098715	0.64402	D	0.000001	T	0.76285	0.3966	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79242	-0.1884	10	0.87932	D	0	-22.3696	19.5708	0.95413	0.0:0.0:1.0:0.0	.	148	P28336	NMBR_HUMAN	H	148	ENSP00000258042:P148H	ENSP00000258042:P148H	P	-	2	0	NMBR	142441713	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.390000	0.97246	2.646000	0.89796	0.585000	0.79938	CCC		NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1		
SYNRG	11276	hgsc.bcm.edu	37	17	35956391	35956391	+	Splice_Site	SNP	G	G	C	rs12944821	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr17:35956391G>C	ENST00000339208.6	-	3	259	c.119C>G	c.(118-120)gCa>gGa	p.A40G	SYNRG_ENST00000591288.1_Splice_Site_p.A40G|SYNRG_ENST00000585472.1_Intron|SYNRG_ENST00000502449.2_Splice_Site_p.A40G|SYNRG_ENST00000394378.2_Splice_Site_p.A40G|SYNRG_ENST00000345615.4_Splice_Site_p.A40G|SYNRG_ENST00000346661.4_Splice_Site_p.A40G	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	40			A -> G (in dbSNP:rs12944821).		endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CATCAGGCCTGCTGAAAATAT	0.383													G|||	1009	0.201478	0.1203	0.3372	5008	,	,		21269	0.251		0.1789	False		,,,				2504	0.1871																0			17						G	GLY/ALA,,GLY/ALA,GLY/ALA,GLY/ALA,GLY/ALA,GLY/ALA	564,3842	251.8+/-258.4	39,486,1678	83.0	78.0	80.0		119,,119,119,119,119,119	3.7	1.0	17	dbSNP_121	80	1587,7013	295.7+/-302.5	151,1285,2864	yes	missense-near-splice,intron,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	SYNRG	NM_001163544.1,NM_001163545.1,NM_001163546.1,NM_001163547.1,NM_007247.4,NM_080550.3,NM_198882.1	60,,60,60,60,60,60	190,1771,4542	CC,CG,GG		18.4535,12.8007,16.5385	benign,,benign,benign,benign,benign,benign	40/1237,,40/1180,40/1109,40/1315,40/1225,40/1260	35956391	2151,10855	2203	4300	6503	33030504	SO:0001630	splice_region_variant	0			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.119-1C>G	17.37:g.35956391G>C		Somatic		Capture	Illumina HiSeq	Phase_I	33030504	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	CCDS11321.1	440	0.20146520146520147	55	0.11178861788617886	116	0.32044198895027626	139	0.243006993006993	130	0.17150395778364116	G	13.47	2.246510	0.39697	0.128007	0.184535	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378;ENST00000394379	T;T;T;T;T	0.46451	1.53;1.53;0.87;0.87;0.87	6.07	3.74	0.42951	.	0.470274	0.20873	N	0.084129	T	0.00012	0.0000	L	0.27053	0.805	0.29416	P	0.860872	B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001;0.001;0.001	T	0.34477	-0.9827	9	0.24483	T	0.36	.	12.9222	0.58239	0.0721:0.1192:0.8088:0.0	rs12944821;rs12944821	40;40;40;40;40;40;40	A8MYE0;B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;.;SYNRG_HUMAN	G	40	ENSP00000005279:A40G;ENSP00000343610:A40G;ENSP00000315722:A40G;ENSP00000424893:A40G;ENSP00000377903:A40G	ENSP00000343610:A40G	A	-	2	0	SYNRG	33030504	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	3.224000	0.51238	1.548000	0.49413	0.655000	0.94253	GCA		SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247	Missense_Mutation
KRT32	3882	hgsc.bcm.edu	37	17	39620399	39620399	+	Silent	SNP	C	C	T	rs12948056	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr17:39620399C>T	ENST00000225899.3	-	5	1030	c.927G>A	c.(925-927)caG>caA	p.Q309Q		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	309	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				TGATGTCTGACTGGTAGTTCT	0.582													C|||	1523	0.304113	0.2095	0.3818	5008	,	,		21394	0.3145		0.4215	False		,,,				2504	0.2454																0			17						C		935,3471	357.1+/-313.8	98,739,1366	175.0	132.0	147.0		927	4.1	1.0	17	dbSNP_121	147	3179,5421	481.6+/-370.7	611,1957,1732	no	coding-synonymous	KRT32	NM_002278.3		709,2696,3098	TT,TC,CC		36.9651,21.2211,31.6316		309/449	39620399	4114,8892	2203	4300	6503	36873925	SO:0001819	synonymous_variant	3882			X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.927G>A	17.37:g.39620399C>T		Somatic		Capture	Illumina HiSeq	Phase_I	36873925		Silent	SNP	ENST00000225899.3	37	CCDS11393.1																																																																																				KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278	
PTGES3L	100885848	hgsc.bcm.edu	37	17	41131645	41131645	+	Missense_Mutation	SNP	C	C	A	rs35444712	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr17:41131645C>A	ENST00000453594.1	-	2	518	c.173G>T	c.(172-174)aGg>aTg	p.R58M	RUNDC1_ENST00000361677.1_5'Flank|RP11-376M2.2_ENST00000587526.1_RNA|PTGES3L_ENST00000409446.3_Intron|PTGES3L-AARSD1_ENST00000360221.4_De_novo_Start_InFrame|PTGES3L-AARSD1_ENST00000409103.1_De_novo_Start_InFrame|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.R58M|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.R58M	NM_001142653.1|NM_001261430.1	NP_001136125.1|NP_001248359.1	E9PB15	PTG3L_HUMAN	prostaglandin E synthase 3 (cytosolic)-like	58	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.																GAACACATACCTGGGCCTGTC	0.557													C|||	522	0.104233	0.2625	0.0778	5008	,	,		19681	0.0		0.0954	False		,,,				2504	0.0256																0			17						C	MET/ARG,MET/ARG,,	1048,3358	386.3+/-326.1	126,796,1281	85.0	75.0	78.0		173,173,,	2.8	1.0	17	dbSNP_126	78	701,7899	172.9+/-223.5	30,641,3629	yes	missense,missense,intron,utr-5	AARSD1	NM_001136042.2,NM_001142653.1,NM_001142654.1,NM_025267.3	91,91,,	156,1437,4910	AA,AC,CC		8.1512,23.7857,13.4476	benign,benign,,	58/587,58/167,,	41131645	1749,11257	2203	4300	6503	38385171	SO:0001583	missense	80755				CCDS45692.1	17q21.31	2012-10-05				ENSG00000267060			43943	protein-coding gene	gene with protein product							Standard	NM_001142653		Approved			E9PB15	OTTHUMG00000180906	ENST00000453594.1:c.173G>T	17.37:g.41131645C>A	ENSP00000394415:p.Arg58Met	Somatic		Capture	Illumina HiSeq	Phase_I	38385171		Missense_Mutation	SNP	ENST00000453594.1	37		249|249|249|249	0.11401098901098901|0.11401098901098901|0.11401098901098901|0.11401098901098901	144|144|144|144	0.2926829268292683|0.2926829268292683|0.2926829268292683|0.2926829268292683	31|31|31|31	0.0856353591160221|0.0856353591160221|0.0856353591160221|0.0856353591160221	0|0|0|0	0.0|0.0|0.0|0.0	74|74|74|74	0.09762532981530343|0.09762532981530343|0.09762532981530343|0.09762532981530343	C|C|C|C	20.7|20.7|20.7|20.7	4.031603|4.031603|4.031603|4.031603	0.75504|0.75504|0.75504|0.75504	0.237857|0.237857|0.237857|0.237857	0.081512|0.081512|0.081512|0.081512	ENSG00000108825|ENSG00000108825|ENSG00000108825|ENSG00000108825	ENST00000424284|ENST00000423601|ENST00000452752|ENST00000409399;ENST00000421990;ENST00000453594;ENST00000451885	.|.|.|T;T;T	.|.|.|0.30448	.|.|.|1.53;1.53;1.53	5.02|5.02|5.02|5.02	2.82|2.82|2.82|2.82	0.32997|0.32997|0.32997|0.32997	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	T|.|T|T	0.00012|.|0.00012|0.00012	0.0000|.|0.0000|0.0000	L|L|L|L	0.36672|0.36672|0.36672|0.36672	1.1|1.1|1.1|1.1	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|P;P	.|.|.|0.41188	.|.|.|0.741;0.741	.|.|.|B;P	.|.|.|0.47528	.|.|.|0.386;0.549	T|.|T|T	0.32295|.|0.32295|0.32295	-0.9912|.|-0.9912|-0.9912	4|.|4|8	.|0.87932|.|0.62326	.|D|.|D	.|0|.|0.03	-6.8848|-6.8848|-6.8848|-6.8848	7.3946|7.3946|7.3946|7.3946	0.26929|0.26929|0.26929|0.26929	0.0:0.3093:0.0:0.6907|0.0:0.3093:0.0:0.6907|0.0:0.3093:0.0:0.6907|0.0:0.3093:0.0:0.6907	rs35444712;rs57068522|rs35444712;rs57068522|rs35444712;rs57068522|rs35444712;rs57068522	.|.|.|58;58	.|.|.|E9PB15;B4DI73	.|.|.|.;.	S|X|H|M	13|31|12|58	.|.|.|ENSP00000386621:R58M;ENSP00000409924:R58M;ENSP00000394415:R58M	.|ENSP00000393780:E31X|.|ENSP00000386621:R58M	A|E|Q|R	-|-|-|-	1|1|3|2	0|0|2|0	AARSD1|AARSD1|AARSD1|AARSD1	38385171|38385171|38385171|38385171	0.991000|0.991000|0.991000|0.991000	0.36638|0.36638|0.36638|0.36638	1.000000|1.000000|1.000000|1.000000	0.80357|0.80357|0.80357|0.80357	0.989000|0.989000|0.989000|0.989000	0.77384|0.77384|0.77384|0.77384	0.833000|0.833000|0.833000|0.833000	0.27504|0.27504|0.27504|0.27504	0.397000|0.397000|0.397000|0.397000	0.25310|0.25310|0.25310|0.25310	-0.255000|-0.255000|-0.255000|-0.255000	0.11280|0.11280|0.11280|0.11280	GCT|GAG|CAG|AGG		PTGES3L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001142653	
APP	351	hgsc.bcm.edu	37	21	27264060	27264060	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr21:27264060T>C	ENST00000346798.3	-	17	2218	c.2185A>G	c.(2185-2187)Aca>Gca	p.T729A	APP_ENST00000348990.5_Missense_Mutation_p.T654A|APP_ENST00000358918.3_Missense_Mutation_p.T711A|APP_ENST00000357903.3_Missense_Mutation_p.T710A|APP_ENST00000448388.2_Missense_Mutation_p.T619A|APP_ENST00000354192.3_Missense_Mutation_p.T598A|APP_ENST00000359726.3_Missense_Mutation_p.T673A|APP_ENST00000440126.3_Missense_Mutation_p.T705A|APP_ENST00000439274.2_Missense_Mutation_p.T673A	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	729					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGAATGGATGTGTACTGTTTC	0.443																																																	0			21											189.0	151.0	164.0					21																	27264060		2203	4300	6503	26185931	SO:0001583	missense	351			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.2185A>G	21.37:g.27264060T>C	ENSP00000284981:p.Thr729Ala	Somatic		Capture	Illumina HiSeq	Phase_I	26185931	B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.390570	0.62066	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209	D;D;D;D;D;D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64	5.65	5.65	0.86999	Beta-amyloid precursor protein C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94026	0.8086	N	0.12182	0.205	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.979;0.999;0.974;0.974;0.999	D;D;D;D;D;D;D	0.87578	0.998;0.998;0.982;0.997;0.969;0.969;0.998	D	0.95403	0.8491	10	0.62326	D	0.03	-14.8557	15.8391	0.78831	0.0:0.0:0.0:1.0	.	619;673;705;598;654;710;729	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	A	729;598;654;710;711;673;619;705;673;298	ENSP00000284981:T729A;ENSP00000346129:T598A;ENSP00000345463:T654A;ENSP00000350578:T710A;ENSP00000351796:T711A;ENSP00000352760:T673A;ENSP00000388538:T619A;ENSP00000387483:T705A;ENSP00000398879:T673A	ENSP00000284981:T729A	T	-	1	0	APP	26185931	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.858000	0.69532	2.279000	0.76181	0.533000	0.62120	ACA		APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484	
TCP10L	140290	hgsc.bcm.edu	37	21	33956579	33956579	+	Silent	SNP	T	T	C	rs2017816	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr21:33956579T>C	ENST00000300258.3	-	2	149	c.36A>G	c.(34-36)aaA>aaG	p.K12K	TCP10L_ENST00000472557.1_Intron|AP000275.65_ENST00000553001.1_Intron	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like	12					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	protein self-association (GO:0043621)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)			breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						GGGTGCCCTCTTTGGGGTCCC	0.637													C|||	2175	0.434305	0.553	0.3703	5008	,	,		17914	0.3492		0.3767	False		,,,				2504	0.4663																0			21						C		2319,2087		596,1127,480	48.0	44.0	46.0		36	-0.9	0.0	21	dbSNP_92	46	3178,5422		607,1964,1729	no	coding-synonymous	TCP10L	NM_144659.5		1203,3091,2209	CC,CT,TT		36.9535,47.3672,42.2651		12/216	33956579	5497,7509	2203	4300	6503	32878450	SO:0001819	synonymous_variant	140290			AF115967	CCDS13616.1	21p22.11	2012-09-20	2012-09-20		ENSG00000242220	ENSG00000242220			11657	protein-coding gene	gene with protein product		608365	"""t-complex 10 (a murine tcp homolog)-like"", ""t-complex 10 (mouse)-like"""			10830953	Standard	NM_144659		Approved	PRED77		Q8TDR4	OTTHUMG00000064901	ENST00000300258.3:c.36A>G	21.37:g.33956579T>C		Somatic		Capture	Illumina HiSeq	Phase_I	32878450	Q53EW0|Q96LN5	Silent	SNP	ENST00000300258.3	37	CCDS13616.1																																																																																				TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139350.1	NM_144659	
KRTAP10-3	386682	hgsc.bcm.edu	37	21	45978592	45978592	+	Missense_Mutation	SNP	T	T	C	rs452472	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr21:45978592T>C	ENST00000391620.1	-	1	51	c.7A>G	c.(7-9)Acg>Gcg	p.T3A	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	3			T -> A (in dbSNP:rs452472). {ECO:0000269|PubMed:15489334}.			keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						ATGGTAGACGTGGCCATGCTG	0.642													.|||	1067	0.213059	0.1483	0.2594	5008	,	,		17698	0.1964		0.337	False		,,,				2504	0.1575																0			21						T	,ALA/THR	730,3676	732.5+/-410.4	60,610,1533	59.0	59.0	59.0		,7	-3.7	0.0	21	dbSNP_80	59	2840,5760	661.1+/-401.8	475,1890,1935	no	intron,missense	TSPEAR,KRTAP10-3	NM_144991.2,NM_198696.2	,58	535,2500,3468	CC,CT,TT		33.0233,16.5683,27.4489	,benign	,3/222	45978592	3570,9436	2203	4300	6503	44803020	SO:0001583	missense	386682			AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.7A>G	21.37:g.45978592T>C	ENSP00000375478:p.Thr3Ala	Somatic		Capture	Illumina HiSeq	Phase_I	44803020	A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	CCDS42956.1	482	0.2206959706959707	65	0.13211382113821138	91	0.2513812154696133	102	0.17832167832167833	224	0.2955145118733509	c	0.001	-2.986087	0.00046	0.165683	0.330233	ENSG00000212935	ENST00000391620	T	0.02863	4.13	3.32	-3.69	0.04450	.	.	.	.	.	T	0.00012	0.0000	N	0.00128	-2.045	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36720	-0.9736	8	0.02654	T	1	.	3.4126	0.07364	0.1224:0.5648:0.1215:0.1914	rs452472	3	P60369	KR103_HUMAN	A	3	ENSP00000375478:T3A	ENSP00000375478:T3A	T	-	1	0	KRTAP10-3	44803020	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.871000	0.04223	-1.132000	0.02907	-2.541000	0.00179	ACG		KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1		
KRTAP10-8	386681	hgsc.bcm.edu	37	21	46032564	46032564	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr21:46032564G>A	ENST00000334662.2	+	1	569	c.547G>A	c.(547-549)Gct>Act	p.A183T	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	183	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.A183S(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCTCTGGGGCTTCCTCTCT	0.632																																																	2	Substitution - Missense(2)	lung(2)	21											189.0	190.0	190.0					21																	46032564		2203	4300	6503	44856992	SO:0001583	missense	386681			AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.547G>A	21.37:g.46032564G>A	ENSP00000335565:p.Ala183Thr	Somatic		Capture	Illumina HiSeq	Phase_I	44856992	A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	37	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	g	0.795	-0.757611	0.03019	.	.	ENSG00000187766	ENST00000334662	T	0.00824	5.65	2.75	-1.32	0.09201	.	.	.	.	.	T	0.01029	0.0034	L	0.33668	1.02	0.09310	N	1	B	0.19706	0.038	B	0.25291	0.059	T	0.42865	-0.9426	9	0.30854	T	0.27	.	10.8118	0.46551	0.0:0.0:0.6604:0.3396	.	183	P60410	KR108_HUMAN	T	183	ENSP00000335565:A183T	ENSP00000335565:A183T	A	+	1	0	KRTAP10-8	44856992	0.880000	0.30214	0.001000	0.08648	0.008000	0.06430	-0.279000	0.08479	-0.429000	0.07329	-0.520000	0.04383	GCT		KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695	
CLDN6	9074	hgsc.bcm.edu	37	16	3065596	3065596	+	Missense_Mutation	SNP	T	T	C	rs2257295	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr16:3065596T>C	ENST00000396925.1	-	3	855	c.427A>G	c.(427-429)Atc>Gtc	p.I143V	CLDN6_ENST00000328796.4_Missense_Mutation_p.I143V|TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000572154.1_Intron			P56747	CLD6_HUMAN	claudin 6	143			I -> V (in dbSNP:rs2257295). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16303743, ECO:0000269|Ref.1, ECO:0000269|Ref.2}.		calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TCCCGGATGATGGCATGCGCC	0.617													T|||	1497	0.298922	0.3548	0.3343	5008	,	,		18815	0.1925		0.3708	False		,,,				2504	0.2342																0			16						T	VAL/ILE	1631,2761		311,1009,876	23.0	25.0	25.0		427	2.5	0.9	16	dbSNP_100	25	3379,5217		688,2003,1607	no	missense	CLDN6	NM_021195.4	29	999,3012,2483	CC,CT,TT		39.309,37.1357,38.5741	benign	143/221	3065596	5010,7978	2196	4298	6494	3005597	SO:0001583	missense	9074			AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.427A>G	16.37:g.3065596T>C	ENSP00000380131:p.Ile143Val	Somatic		Capture	Illumina HiSeq	Phase_I	3005597	B3KQP9|D3DUA5	Missense_Mutation	SNP	ENST00000396925.1	37	CCDS10488.1	695	0.3182234432234432	179	0.3638211382113821	122	0.3370165745856354	124	0.21678321678321677	270	0.3562005277044855	T	6.973	0.549571	0.13374	0.371357	0.39309	ENSG00000184697	ENST00000396925;ENST00000328796	D;D	0.89270	-2.49;-2.49	4.76	2.51	0.30379	.	0.125321	0.52532	N	0.000076	T	0.00012	0.0000	L	0.33245	0.995	0.32491	P	0.540211	B	0.22276	0.067	B	0.27500	0.08	T	0.10776	-1.0615	9	0.23302	T	0.38	.	7.5467	0.27770	0.0:0.1806:0.0:0.8194	rs2257295;rs17850428;rs61137178;rs2257295	143	P56747	CLD6_HUMAN	V	143	ENSP00000380131:I143V;ENSP00000328674:I143V	ENSP00000328674:I143V	I	-	1	0	CLDN6	3005597	1.000000	0.71417	0.941000	0.38009	0.114000	0.19823	1.726000	0.38085	0.423000	0.26033	0.533000	0.62120	ATC		CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195	
FA2H	79152	hgsc.bcm.edu	37	16	74773946	74773946	+	Missense_Mutation	SNP	C	C	T	rs147632811	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr16:74773946C>T	ENST00000219368.3	-	2	407	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	FA2H_ENST00000544337.1_5'UTR	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	113					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R113Q(1)		endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CACTTTGAACCGTGGTTCCAT	0.537													C|||	2	0.000399361	0.0	0.0	5008	,	,		18815	0.0		0.001	False		,,,				2504	0.001																1	Substitution - Missense(1)	large_intestine(1)	16						C	GLN/ARG	1,4395	2.1+/-5.4	0,1,2197	270.0	243.0	252.0		338	1.6	0.1	16	dbSNP_134	252	9,8591	7.1+/-27.0	0,9,4291	yes	missense	FA2H	NM_024306.4	43	0,10,6488	TT,TC,CC		0.1047,0.0227,0.0769	benign	113/373	74773946	10,12986	2198	4300	6498	73331447	SO:0001583	missense	79152			BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"""Fatty acid hydroxylase domain containing"""	21197	protein-coding gene	gene with protein product	"""fatty acid hydroxylase"""	611026	"""fatty acid hydroxylase domain containing 1"", ""spastic paraplegia 35 (autosomal recessive)"""	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.338G>A	16.37:g.74773946C>T	ENSP00000219368:p.Arg113Gln	Somatic		Capture	Illumina HiSeq	Phase_I	73331447	B7Z8T6|O75213|Q96DK1|Q9H1A5	Missense_Mutation	SNP	ENST00000219368.3	37	CCDS10911.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	12.93	2.085562	0.36758	2.27E-4	0.001047	ENSG00000103089	ENST00000219368	D	0.85702	-2.02	4.74	1.6	0.23607	.	0.580298	0.18201	N	0.148510	T	0.64260	0.2582	N	0.11201	0.11	0.46416	D	0.999035	B	0.20052	0.041	B	0.08055	0.003	T	0.46119	-0.9214	10	0.10902	T	0.67	-0.0465	5.3315	0.15936	0.0:0.5415:0.0:0.4585	.	113	Q7L5A8	FA2H_HUMAN	Q	113	ENSP00000219368:R113Q	ENSP00000219368:R113Q	R	-	2	0	FA2H	73331447	0.830000	0.29337	0.120000	0.21714	0.732000	0.41865	0.823000	0.27366	0.117000	0.18138	0.556000	0.70494	CGG		FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306	
DYNLRB2	83657	hgsc.bcm.edu	37	16	80583497	80583497	+	Silent	SNP	C	C	T	rs11866734	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr16:80583497C>T	ENST00000305904.6	+	3	316	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	RP11-109P11.1_ENST00000568275.1_RNA|DYNLRB2_ENST00000570222.1_3'UTR|DYNLRB2_ENST00000562982.1_Silent_p.L95L|RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000568035.1_Intron	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	66					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	cytoplasmic dynein complex (GO:0005868)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			large_intestine(1)|lung(4)|prostate(1)	6						TCAGAACGACCTGACTTTTCT	0.383													C|||	750	0.14976	0.2443	0.1585	5008	,	,		16697	0.0129		0.2515	False		,,,				2504	0.0521																0			16						C		1124,3282	400.1+/-331.5	145,834,1224	115.0	107.0	110.0		196	4.1	1.0	16	dbSNP_120	110	2070,6530	359.0+/-331.4	246,1578,2476	no	coding-synonymous	DYNLRB2	NM_130897.1		391,2412,3700	TT,TC,CC		24.0698,25.5107,24.5579		66/97	80583497	3194,9812	2203	4300	6503	79140998	SO:0001819	synonymous_variant	83657			AF125108	CCDS10929.1	16q23.3	2008-02-05	2005-11-25	2005-11-25	ENSG00000168589	ENSG00000168589		"""Cytoplasmic dyneins"""	15467	protein-coding gene	gene with protein product	"""roadblock domain containing 2"""	607168	"""dynein, cytoplasmic, light polypeptide 2B"""	DNCL2B		11750132, 16260502	Standard	NM_130897		Approved	DNLC2B, ROBLD2	uc002ffo.3	Q8TF09	OTTHUMG00000137622	ENST00000305904.6:c.196C>T	16.37:g.80583497C>T		Somatic		Capture	Illumina HiSeq	Phase_I	79140998		Silent	SNP	ENST00000305904.6	37	CCDS10929.1																																																																																				DYNLRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269043.1	NM_130897	
SMAD4	4089	hgsc.bcm.edu	37	18	48593406	48593406	+	Missense_Mutation	SNP	G	G	A	rs121912580		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr18:48593406G>A	ENST00000342988.3	+	10	1695	c.1157G>A	c.(1156-1158)gGt>gAt	p.G386D	SMAD4_ENST00000398417.2_Missense_Mutation_p.G386D|SMAD4_ENST00000588745.1_Missense_Mutation_p.G290D	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	386	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		G -> D (in JP/HHT; dbSNP:rs28936393). {ECO:0000269|PubMed:15031030}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATAGGCAAAGGTGTGCAGTTG	0.368																																																	38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	18	GRCh37	CM021284	SMAD4	M	rs121912580						202.0	166.0	178.0					18																	48593406		2203	4300	6503	46847404	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1157G>A	18.37:g.48593406G>A	ENSP00000341551:p.Gly386Asp	Somatic		Capture	Illumina HiSeq	Phase_I	46847404	A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.998838	0.93227	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.99872	-7.37;-7.37	5.65	5.65	0.86999	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.046058	0.85682	D	0.000000	D	0.99910	0.9957	H	0.96080	3.765	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96369	0.9272	9	0.87932	D	0	.	18.5072	0.90901	0.0:0.0:1.0:0.0	rs28936393	386	Q13485	SMAD4_HUMAN	D	386	ENSP00000341551:G386D;ENSP00000381452:G386D	ENSP00000341551:G386D	G	+	2	0	SMAD4	46847404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.759000	0.98931	2.662000	0.90505	0.563000	0.77884	GGT		SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
ITPR1	3708	hgsc.bcm.edu	37	3	4704848	4704848	+	Silent	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr3:4704848A>G	ENST00000443694.2	+	13	1467	c.1467A>G	c.(1465-1467)agA>agG	p.R489R	ITPR1_ENST00000302640.8_Silent_p.R489R|ITPR1_ENST00000456211.2_Silent_p.R489R|ITPR1_ENST00000354582.6_Silent_p.R504R|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Silent_p.R504R|ITPR1_ENST00000423119.2_Silent_p.R504R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	504					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGCCCAACAGAGAACGGCAGA	0.443																																																	0			3											118.0	120.0	119.0					3																	4704848		1985	4181	6166	4679848	SO:0001819	synonymous_variant	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1467A>G	3.37:g.4704848A>G		Somatic		Capture	Illumina HiSeq	Phase_I	4679848	E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	CCDS54551.1																																																																																				ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
VHL	7428	hgsc.bcm.edu	37	3	10188208	10188208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr3:10188208G>A	ENST00000256474.2	+	2	1191	c.351G>A	c.(349-351)tgG>tgA	p.W117*	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	117	Involved in binding to CCT complex.		W -> C (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|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)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.W117C(4)|p.W117*(2)|p.?(1)|p.W117fs*40(1)|p.W117fs*42(1)|p.W117fs*1(1)|p.H115fs*41(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTCACCTTTGGCTCTTCAGAG	0.512		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	11	Substitution - Missense(4)|Deletion - Frameshift(4)|Substitution - Nonsense(2)|Unknown(1)	kidney(10)|upper_aerodigestive_tract(1)	3	GRCh37	CM951286|HM971481	VHL	M							178.0	165.0	169.0					3																	10188208		2203	4300	6503	10163208	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.351G>A	3.37:g.10188208G>A	ENSP00000256474:p.Trp117*	Somatic		Capture	Illumina HiSeq	Phase_I	10163208	B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	42	9.265052	0.99118	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0021	16.3181	0.82935	0.0:0.0:1.0:0.0	.	.	.	.	X	117;35	.	ENSP00000256474:W117X	W	+	3	0	VHL	10163208	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	7.278000	0.78587	2.530000	0.85305	0.563000	0.77884	TGG		VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
OXNAD1	92106	hgsc.bcm.edu	37	3	16312564	16312564	+	Silent	SNP	C	C	T	rs842259	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr3:16312564C>T	ENST00000285083.5	+	3	570	c.105C>T	c.(103-105)caC>caT	p.H35H	OXNAD1_ENST00000544043.1_Silent_p.H53H|OXNAD1_ENST00000606098.1_Silent_p.H35H|OXNAD1_ENST00000435829.2_Silent_p.H53H|OXNAD1_ENST00000605932.1_Silent_p.H35H	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	35						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						CTTTGCGCCACCTTACTCTAA	0.483													C|||	2107	0.420727	0.2617	0.4654	5008	,	,		17886	0.4752		0.4324	False		,,,				2504	0.5358																0			3						C		1361,3045	450.8+/-349.5	221,919,1063	157.0	146.0	150.0		105	3.0	0.5	3	dbSNP_86	150	3655,4945	526.1+/-380.9	787,2081,1432	no	coding-synonymous	OXNAD1	NM_138381.3		1008,3000,2495	TT,TC,CC		42.5,30.8897,38.5668		35/313	16312564	5016,7990	2203	4300	6503	16287568	SO:0001819	synonymous_variant	92106			AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.105C>T	3.37:g.16312564C>T		Somatic		Capture	Illumina HiSeq	Phase_I	16287568	Q2HYC7|Q59FA4	Silent	SNP	ENST00000285083.5	37	CCDS2630.1																																																																																				OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252109.1	NM_138381	
SETD2	29072	hgsc.bcm.edu	37	3	47098748	47098748	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr3:47098748A>G	ENST00000409792.3	-	15	6568	c.6526T>C	c.(6526-6528)Tat>Cat	p.Y2176H		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2176	Low charge region.|Pro-rich.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GGATCCACATAGGCCTGCATG	0.537			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0			3											151.0	134.0	140.0					3																	47098748		2203	4300	6503	47073752	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6526T>C	3.37:g.47098748A>G	ENSP00000386759:p.Tyr2176His	Somatic		Capture	Illumina HiSeq	Phase_I	47073752	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363142	0.82353	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.48836	0.8	5.25	5.25	0.73442	.	0.000000	0.53938	D	0.000057	T	0.53997	0.1831	L	0.40543	1.245	0.39312	D	0.965098	D;D	0.57257	0.979;0.979	P;P	0.55222	0.771;0.771	T	0.58885	-0.7557	10	0.62326	D	0.03	.	15.6116	0.76727	1.0:0.0:0.0:0.0	.	2176;2176	F2Z317;Q9BYW2	.;SETD2_HUMAN	H	2176	ENSP00000386759:Y2176H	ENSP00000386759:Y2176H	Y	-	1	0	SETD2	47073752	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	8.632000	0.90995	2.333000	0.79357	0.533000	0.62120	TAT		SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
DOCK3	1795	hgsc.bcm.edu	37	3	51246252	51246252	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr3:51246252G>A	ENST00000266037.9	+	13	1108	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	362					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AACATCATCCGAAAGTCCAGT	0.458																																																	0			3											98.0	103.0	101.0					3																	51246252		2039	4207	6246	51221292	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1085G>A	3.37:g.51246252G>A	ENSP00000266037:p.Arg362Gln	Somatic		Capture	Illumina HiSeq	Phase_I	51221292	O15017	Silent	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	35	5.569967	0.96540	.	.	ENSG00000088538	ENST00000266037	T	0.04862	3.54	5.72	5.72	0.89469	.	0.096640	0.64402	D	0.000003	T	0.24586	0.0596	M	0.74881	2.28	0.58432	D	0.999995	D	0.76494	0.999	P	0.61874	0.895	T	0.00028	-1.2296	10	0.51188	T	0.08	.	19.0394	0.92992	0.0:0.0:1.0:0.0	.	362	Q8IZD9	DOCK3_HUMAN	Q	362	ENSP00000266037:R362Q	ENSP00000266037:R362Q	R	+	2	0	DOCK3	51221292	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.125000	0.94402	2.878000	0.98634	0.650000	0.86243	CGA		DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
PBRM1	55193	hgsc.bcm.edu	37	3	52643685	52643685	+	Silent	SNP	T	T	C	rs3755806	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr3:52643685T>C	ENST00000296302.7	-	16	2212	c.2211A>G	c.(2209-2211)acA>acG	p.T737T	PBRM1_ENST00000337303.4_Silent_p.T737T|PBRM1_ENST00000356770.4_Silent_p.T705T|PBRM1_ENST00000394830.3_Silent_p.T737T|PBRM1_ENST00000409114.3_Silent_p.T752T|PBRM1_ENST00000409057.1_Silent_p.T737T|PBRM1_ENST00000409767.1_Silent_p.T752T|PBRM1_ENST00000410007.1_Silent_p.T737T			Q86U86	PB1_HUMAN	polybromo 1	737	Bromo 5. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A735fs*7(2)|p.A703fs*7(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCTCATTGTATGTACAGGCAT	0.423			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								T|||	1615	0.322484	0.1483	0.4611	5008	,	,		22548	0.4276		0.4215	False		,,,				2504	0.2495							Rec	yes		3	3p21	55193	polybromo 1		E	3	Deletion - Frameshift(3)	kidney(3)	3						T	,,	771,3635	314.4+/-293.6	64,643,1496	141.0	135.0	137.0		2115,2211,2211	-2.2	1.0	3	dbSNP_107	137	3516,5084	512.1+/-377.9	737,2042,1521	no	coding-synonymous,coding-synonymous,coding-synonymous	PBRM1	NM_018165.4,NM_018313.4,NM_181042.3	,,	801,2685,3017	CC,CT,TT		40.8837,17.4989,32.9617	,,	705/1603,737/1583,737/1583	52643685	4287,8719	2203	4300	6503	52618725	SO:0001819	synonymous_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2211A>G	3.37:g.52643685T>C		Somatic		Capture	Illumina HiSeq	Phase_I	52618725	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37																																																																																					PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
ATXN7	6314	hgsc.bcm.edu	37	3	63982082	63982082	+	Missense_Mutation	SNP	G	G	A	rs3774729	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr3:63982082G>A	ENST00000295900.6	+	12	3134	c.2584G>A	c.(2584-2586)Gtg>Atg	p.V862M	ATXN7_ENST00000484332.1_Missense_Mutation_p.V717M|ATXN7_ENST00000538065.1_Missense_Mutation_p.V862M|ATXN7_ENST00000487717.1_Missense_Mutation_p.V862M|ATXN7_ENST00000398590.3_Missense_Mutation_p.V862M	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	862			V -> M (in dbSNP:rs3774729). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:9425224}.		cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		AGTGCCAGCCGTGAACAATGT	0.507													A|||	2192	0.4377	0.6354	0.3429	5008	,	,		18405	0.4603		0.334	False		,,,				2504	0.3211																0			3						A	MET/VAL,MET/VAL,MET/VAL	2374,1882		676,1022,430	65.0	69.0	68.0		2584,2149,2584	-1.6	1.0	3	dbSNP_107	68	2612,5894		406,1800,2047	yes	missense,missense,missense	ATXN7	NM_000333.3,NM_001128149.2,NM_001177387.1	21,21,21	1082,2822,2477	AA,AG,GG		30.7077,44.2199,39.0691	benign,benign,benign	862/893,717/748,862/946	63982082	4986,7776	2128	4253	6381	63957122	SO:0001583	missense	6314			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2584G>A	3.37:g.63982082G>A	ENSP00000295900:p.Val862Met	Somatic		Capture	Illumina HiSeq	Phase_I	63957122	B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	CCDS43102.1	954	0.4368131868131868	288	0.5853658536585366	128	0.35359116022099446	284	0.4965034965034965	254	0.33509234828496043	A	1.225	-0.625811	0.03610	0.557801	0.307077	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332;ENST00000522345	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.07	-1.61	0.08399	.	0.335977	0.36893	N	0.002341	T	0.00012	0.0000	N	0.04746	-0.17	0.46798	P	7.989999999999942E-4	B;B;B	0.18461	0.006;0.028;0.005	B;B;B	0.08055	0.003;0.003;0.001	T	0.41342	-0.9514	9	0.02654	T	1	0.1485	9.2895	0.37778	0.2927:0.1299:0.5775:0.0	rs3774729;rs57082092;rs3774729	717;862;862	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	M	862;862;862;862;717;33	ENSP00000381590:V862M;ENSP00000295900:V862M;ENSP00000420234:V862M;ENSP00000439585:V862M;ENSP00000428277:V717M;ENSP00000428067:V33M	ENSP00000295900:V862M	V	+	1	0	ATXN7	63957122	0.000000	0.05858	0.983000	0.44433	0.990000	0.78478	-0.265000	0.08644	-0.467000	0.06932	-0.260000	0.10688	GTG		ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333	
PRICKLE2	166336	hgsc.bcm.edu	37	3	64139008	64139008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr3:64139008G>A	ENST00000295902.6	-	6	1222	c.637C>T	c.(637-639)Cga>Tga	p.R213*	PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R269*	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	213	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGCCAGTGTCGCCCCTCAGCT	0.498																																																	0			3											125.0	113.0	117.0					3																	64139008		2203	4300	6503	64114048	SO:0001587	stop_gained	166336			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.637C>T	3.37:g.64139008G>A	ENSP00000295902:p.Arg213*	Somatic		Capture	Illumina HiSeq	Phase_I	64114048	Q0VF44	Nonsense_Mutation	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	41	9.070864	0.99055	.	.	ENSG00000163637	ENST00000295902	.	.	.	5.78	2.76	0.32466	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-36.5829	14.3734	0.66857	0.0:0.0:0.4938:0.5062	.	.	.	.	X	213	.	ENSP00000295902:R213X	R	-	1	2	PRICKLE2	64114048	0.993000	0.37304	0.997000	0.53966	0.593000	0.36681	2.279000	0.43435	0.856000	0.35383	-0.182000	0.12963	CGA		PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859	
TMEM108	66000	hgsc.bcm.edu	37	3	133098806	133098806	+	Missense_Mutation	SNP	C	C	T	rs34111099	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr3:133098806C>T	ENST00000321871.6	+	4	461	c.251C>T	c.(250-252)cCg>cTg	p.P84L	TMEM108_ENST00000515826.1_Missense_Mutation_p.P84L|TMEM108_ENST00000393130.3_Missense_Mutation_p.P84L|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	84	Pro-rich.		P -> L (in dbSNP:rs34111099). {ECO:0000269|PubMed:11214970, ECO:0000269|PubMed:12975309}.			integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATGGCAACACCGACACCCCGT	0.627													c|||	145	0.0289537	0.0136	0.0173	5008	,	,		15503	0.0		0.0616	False		,,,				2504	0.0542																0			3							LEU/PRO,LEU/PRO	82,4324	68.7+/-106.4	2,78,2123	97.0	89.0	92.0		251,251	0.9	0.0	3	dbSNP_126	92	597,8003	157.7+/-211.4	23,551,3726	yes	missense,missense	TMEM108	NM_001136469.1,NM_023943.2	98,98	25,629,5849	TT,TC,CC		6.9419,1.8611,5.2207	benign,benign	84/576,84/576	133098806	679,12327	2203	4300	6503	134581496	SO:0001583	missense	66000			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.251C>T	3.37:g.133098806C>T	ENSP00000324651:p.Pro84Leu	Somatic		Capture	Illumina HiSeq	Phase_I	134581496	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	CCDS33858.1	61	0.027930402930402932	12	0.024390243902439025	4	0.011049723756906077	0	0.0	45	0.059366754617414245	c	2.305	-0.359279	0.05138	0.018611	0.069419	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000514894;ENST00000512662;ENST00000512137;ENST00000515826;ENST00000510183	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88	2.76	0.893	0.19236	.	0.467395	0.15982	N	0.235273	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	B;B	0.29862	0.259;0.007	B;B	0.20384	0.029;0.004	T	0.08269	-1.0730	10	0.52906	T	0.07	0.0198	3.2014	0.06651	0.2607:0.5932:0.0:0.1461	rs34111099	84;84	E9PB58;Q6UXF1	.;TM108_HUMAN	L	84;84;35;35;84;84;84	ENSP00000324651:P84L;ENSP00000376838:P84L;ENSP00000422072:P35L;ENSP00000427447:P35L;ENSP00000426301:P84L;ENSP00000423338:P84L;ENSP00000421486:P84L	ENSP00000324651:P84L	P	+	2	0	TMEM108	134581496	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.106000	0.15354	0.219000	0.20840	0.457000	0.33378	CCG		TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943	
EPHB1	2047	hgsc.bcm.edu	37	3	134670642	134670642	+	Missense_Mutation	SNP	T	T	C	rs373971290		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr3:134670642T>C	ENST00000398015.3	+	3	923	c.553T>C	c.(553-555)Tct>Cct	p.S185P	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	185	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.			S -> I (in Ref. 2; AAD02030/AAD02031/ AAB94627/AAB94628). {ECO:0000305}.	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						AGCCTGTATGTCTCTTCTTTC	0.463																																																	0			3											253.0	241.0	245.0					3																	134670642		1922	4136	6058	136153332	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.553T>C	3.37:g.134670642T>C	ENSP00000381097:p.Ser185Pro	Somatic		Capture	Illumina HiSeq	Phase_I	136153332	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344404	0.82022	.	.	ENSG00000154928	ENST00000398015	T	0.04406	3.63	5.49	5.49	0.81192	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	M	0.86097	2.795	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.01725	-1.1287	9	.	.	.	.	15.6027	0.76636	0.0:0.0:0.0:1.0	.	185	P54762	EPHB1_HUMAN	P	185	ENSP00000381097:S185P	.	S	+	1	0	EPHB1	136153332	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.085000	0.62840	0.533000	0.62120	TCT		EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441	
DGKG	1608	hgsc.bcm.edu	37	3	185990096	185990096	+	Missense_Mutation	SNP	C	C	T	rs2193587	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr3:185990096C>T	ENST00000265022.3	-	11	1486	c.947G>A	c.(946-948)aGa>aAa	p.R316K	DGKG_ENST00000344484.4_Missense_Mutation_p.R316K|DGKG_ENST00000544847.1_Missense_Mutation_p.R316K|DGKG_ENST00000382164.4_Missense_Mutation_p.R316K	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	316			R -> K (in dbSNP:rs2193587). {ECO:0000269|PubMed:10071200, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8034597}.		blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGGAATGTTTCTGGACACACA	0.473													T|||	4051	0.808906	0.9191	0.8357	5008	,	,		24915	0.744		0.8002	False		,,,				2504	0.7168																0			3						T	LYS/ARG,LYS/ARG,LYS/ARG	3951,455	215.8+/-234.7	1777,397,29	247.0	199.0	216.0		947,947,947	3.9	1.0	3	dbSNP_96	216	6775,1825	328.5+/-318.3	2666,1443,191	yes	missense,missense,missense	DGKG	NM_001080744.1,NM_001080745.1,NM_001346.2	26,26,26	4443,1840,220	TT,TC,CC		21.2209,10.3268,17.5304	benign,benign,benign	316/767,316/753,316/792	185990096	10726,2280	2203	4300	6503	187472790	SO:0001583	missense	1608			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.947G>A	3.37:g.185990096C>T	ENSP00000265022:p.Arg316Lys	Somatic		Capture	Illumina HiSeq	Phase_I	187472790	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	CCDS3274.1	1785	0.8173076923076923	446	0.9065040650406504	292	0.8066298342541437	429	0.75	618	0.8153034300791556	T	5.951	0.359433	0.11239	0.896732	0.787791	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691;ENST00000437018	D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01	5.08	3.92	0.45320	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.057438	0.64402	N	0.000002	T	0.00012	0.0000	N	0.01446	-0.86	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.002;0.002;0.003	T	0.43621	-0.9380	9	0.02654	T	1	.	8.2693	0.31833	0.0:0.1642:0.0:0.8358	rs2193587;rs2228940;rs59009759;rs2193587	316;316;316;316	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	K	316;316;316;316;319;67	ENSP00000265022:R316K;ENSP00000339777:R316K;ENSP00000371599:R316K;ENSP00000440507:R316K;ENSP00000395526:R67K	ENSP00000265022:R316K	R	-	2	0	DGKG	187472790	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	0.838000	0.27572	0.471000	0.27319	-1.044000	0.02363	AGA		DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3		
LEPREL1	55214	hgsc.bcm.edu	37	3	189689720	189689720	+	Silent	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr3:189689720T>C	ENST00000319332.5	-	12	1973	c.1776A>G	c.(1774-1776)gaA>gaG	p.E592E	LEPREL1_ENST00000427335.2_Silent_p.E411E	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	592	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCTTCCAGCATTCGTTGGCCT	0.448																																																	0			3											89.0	78.0	82.0					3																	189689720		2203	4300	6503	191172414	SO:0001819	synonymous_variant	55214				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1776A>G	3.37:g.189689720T>C		Somatic		Capture	Illumina HiSeq	Phase_I	191172414	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Silent	SNP	ENST00000319332.5	37	CCDS3294.1																																																																																				LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192	
CD163	9332	hgsc.bcm.edu	37	12	7632575	7632575	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr12:7632575C>A	ENST00000359156.4	-	16	3563	c.3361G>T	c.(3361-3363)Gct>Tct	p.A1121S	CD163_ENST00000432237.2_Intron|CD163_ENST00000541972.1_Intron|CD163_ENST00000396620.3_Intron	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1121					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CTGAAATCAGCTGACTCATGG	0.393																																																	0			12											57.0	57.0	57.0					12																	7632575		2202	4300	6502	7523842	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3361G>T	12.37:g.7632575C>A	ENSP00000352071:p.Ala1121Ser	Somatic		Capture	Illumina HiSeq	Phase_I	7523842	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.012|0.012	-1.670623|-1.670623	0.00758|0.00758	.|.	.|.	ENSG00000177575|ENSG00000177575	ENST00000359156;ENST00000542280|ENST00000537626	T;T|.	0.01933|.	5.08;4.55|.	4.69|4.69	-4.73|-4.73	0.03259|0.03259	.|.	3.141460|.	0.01099|.	N|.	0.005334|.	T|T	0.09555|0.09555	0.0235|0.0235	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.14012|.	0.009|.	B|.	0.12156|.	0.007|.	T|T	0.26744|0.26744	-1.0094|-1.0094	9|5	.|.	.|.	.|.	.|.	0.1645|0.1645	0.00107|0.00107	0.2642:0.2573:0.2257:0.2528|0.2642:0.2573:0.2257:0.2528	.|.	1121|.	Q86VB7|.	C163A_HUMAN|.	S|H	1121;89|101	ENSP00000352071:A1121S;ENSP00000445438:A89S|.	.|.	A|Q	-|-	1|3	0|2	CD163|CD163	7523842|7523842	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.294000|0.294000	0.27393|0.27393	-0.078000|-0.078000	0.11375|0.11375	-0.824000|-0.824000	0.04295|0.04295	0.563000|0.563000	0.77884|0.77884	GCT|CAG		CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
SLCO1B1	10599	hgsc.bcm.edu	37	12	21329830	21329830	+	Splice_Site	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr12:21329830A>G	ENST00000256958.2	+	5	576	c.480A>G	c.(478-480)aaA>aaG	p.K160K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	160					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TAGTGGGAAAAGGTAAGAATT	0.259																																																	0			12											62.0	63.0	63.0					12																	21329830		2203	4281	6484	21221097	SO:0001630	splice_region_variant	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.481+1A>G	12.37:g.21329830A>G		Somatic		Capture	Illumina HiSeq	Phase_I	21221097	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	CCDS8685.1																																																																																				SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	Silent
ITPR2	3709	hgsc.bcm.edu	37	12	26580929	26580929	+	Missense_Mutation	SNP	G	G	A	rs61751236	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr12:26580929G>A	ENST00000381340.3	-	49	7278	c.6862C>T	c.(6862-6864)Cgg>Tgg	p.R2288W		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2288					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGAAACGGCCGAATACCCACA	0.393													G|||	3	0.000599042	0.0	0.0	5008	,	,		15835	0.0		0.003	False		,,,				2504	0.0																0			12						G	TRP/ARG	1,3667		0,1,1833	96.0	88.0	91.0		6862	4.3	1.0	12	dbSNP_129	91	9,8181		0,9,4086	yes	missense	ITPR2	NM_002223.2	101	0,10,5919	AA,AG,GG		0.1099,0.0273,0.0843	probably-damaging	2288/2702	26580929	10,11848	1834	4095	5929	26472196	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6862C>T	12.37:g.26580929G>A	ENSP00000370744:p.Arg2288Trp	Somatic		Capture	Illumina HiSeq	Phase_I	26472196	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	21.2	4.112440	0.77210	2.73E-4	0.001099	ENSG00000123104	ENST00000381340	D	0.92545	-3.06	4.32	4.32	0.51571	.	0.191550	0.37219	N	0.002187	D	0.94870	0.8342	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	D	0.93786	0.7088	10	0.35671	T	0.21	.	12.1523	0.54055	0.0:0.0:0.829:0.171	rs61751236	2288	Q14571	ITPR2_HUMAN	W	2288	ENSP00000370744:R2288W	ENSP00000370744:R2288W	R	-	1	2	ITPR2	26472196	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.631000	0.54280	2.246000	0.74042	0.585000	0.79938	CGG		ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
BICD1	636	hgsc.bcm.edu	37	12	32481093	32481093	+	Silent	SNP	G	G	C	rs3748275	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr12:32481093G>C	ENST00000281474.5	+	5	1807	c.1704G>C	c.(1702-1704)gtG>gtC	p.V568V	BICD1_ENST00000548411.1_Silent_p.V568V	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	568					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGCGGGGTGTGTCATCCCCGG	0.537													G|||	1325	0.264577	0.1377	0.2118	5008	,	,		18566	0.5764		0.2296	False		,,,				2504	0.1881																0			12						G	,	651,3755	278.7+/-274.4	63,525,1615	112.0	110.0	111.0		1704,1704	3.2	1.0	12	dbSNP_107	111	1802,6798	324.1+/-316.3	192,1418,2690	no	coding-synonymous,coding-synonymous	BICD1	NM_001003398.1,NM_001714.2	,	255,1943,4305	CC,CG,GG		20.9535,14.7753,18.8605	,	568/836,568/976	32481093	2453,10553	2203	4300	6503	32372360	SO:0001819	synonymous_variant	636			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1704G>C	12.37:g.32481093G>C		Somatic		Capture	Illumina HiSeq	Phase_I	32372360	A8K2C3|F8W113|O43892|O43893	Silent	SNP	ENST00000281474.5	37	CCDS8726.1																																																																																				BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714	
ABCD2	225	hgsc.bcm.edu	37	12	39947933	39947933	+	Splice_Site	SNP	C	C	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr12:39947933C>A	ENST00000308666.3	-	10	2139	c.2004G>T	c.(2002-2004)tgG>tgT	p.W668C		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	668	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TGTGGTATTTCCTGCATAATT	0.303																																																	0			12											62.0	63.0	63.0					12																	39947933		2203	4300	6503	38234200	SO:0001630	splice_region_variant	225			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.2004-1G>T	12.37:g.39947933C>A		Somatic		Capture	Illumina HiSeq	Phase_I	38234200	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127433	0.77549	.	.	ENSG00000173208	ENST00000308666	D	0.99843	-7.11	5.1	5.1	0.69264	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99806	0.9916	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97344	0.9959	9	.	.	.	.	18.8712	0.92315	0.0:1.0:0.0:0.0	.	668	Q9UBJ2	ABCD2_HUMAN	C	668	ENSP00000310688:W668C	.	W	-	3	0	ABCD2	38234200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.713000	0.84693	2.535000	0.85469	0.655000	0.94253	TGG		ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164	Missense_Mutation
SSH1	54434	hgsc.bcm.edu	37	12	109185877	109185877	+	Intron	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr12:109185877C>T	ENST00000326495.5	-	14	1987				SSH1_ENST00000326470.5_Silent_p.*704*|SSH1_ENST00000551165.1_Silent_p.*693*|SSH1_ENST00000360239.3_Intron	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1						actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCAGCAGAATCACCCTGTGAA	0.498																																																	0			12											27.0	27.0	27.0					12																	109185877		692	1591	2283	107710006	SO:0001627	intron_variant	54434			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1893+184G>A	12.37:g.109185877C>T		Somatic		Capture	Illumina HiSeq	Phase_I	107710006	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	ENST00000326495.5	37	CCDS9121.1																																																																																				SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984	
PTPN11	5781	hgsc.bcm.edu	37	12	112926886	112926886	+	Silent	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr12:112926886A>G	ENST00000351677.2	+	13	1704	c.1506A>G	c.(1504-1506)tcA>tcG	p.S502S		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	506	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		R -> L (in LEOPARD1). {ECO:0000269|PubMed:15121796}.|R -> W (in LEOPARD1; reduced phosphatase activity). {ECO:0000269|PubMed:15121796, ECO:0000269|PubMed:24891296}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CTCAGAGGTCAGGGATGGTCC	0.463			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																															Dom	yes		12	12q24.1	5781	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	L	0			12											180.0	168.0	172.0					12																	112926886		2203	4300	6503	111411269	SO:0001819	synonymous_variant	5781	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1506A>G	12.37:g.112926886A>G		Somatic		Capture	Illumina HiSeq	Phase_I	111411269	A8K1D9|Q96HD7	Silent	SNP	ENST00000351677.2	37	CCDS9163.1																																																																																				PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2		
PITPNM2	57605	hgsc.bcm.edu	37	12	123471337	123471337	+	Silent	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr12:123471337C>T	ENST00000542749.1	-	22	3516	c.3453G>A	c.(3451-3453)acG>acA	p.T1151T	PITPNM2_ENST00000320201.4_Silent_p.T1151T|PITPNM2_ENST00000392428.1_Silent_p.T872T|PITPNM2_ENST00000280562.5_Silent_p.T1145T			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1151					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGGGCCGGCCCGTCACGTAGA	0.657																																																	0			12											44.0	39.0	41.0					12																	123471337		2202	4300	6502	122037290	SO:0001819	synonymous_variant	57605			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.3453G>A	12.37:g.123471337C>T		Somatic		Capture	Illumina HiSeq	Phase_I	122037290	Q9P271	Silent	SNP	ENST00000542749.1	37	CCDS9242.1																																																																																				PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845	
ATP10A	57194	hgsc.bcm.edu	37	15	25940151	25940151	+	Missense_Mutation	SNP	C	C	T	rs150976669		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr15:25940151C>T	ENST00000356865.6	-	14	3014	c.2903G>A	c.(2902-2904)cGc>cAc	p.R968H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	968					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTGGGTCTGCGGCCAGAGGC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19196	0.0		0.0	False		,,,				2504	0.001																0			15						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	104.0	99.0	101.0		2903	0.6	0.1	15	dbSNP_134	101	0,8600		0,0,4300	no	missense	ATP10A	NM_024490.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	968/1500	25940151	1,13005	2203	4300	6503	23491244	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2903G>A	15.37:g.25940151C>T	ENSP00000349325:p.Arg968His	Somatic		Capture	Illumina HiSeq	Phase_I	23491244	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	7.061	0.566312	0.13560	2.27E-4	0.0	ENSG00000206190	ENST00000356865	D	0.82803	-1.65	4.91	0.572	0.17357	HAD-like domain (1);	0.558796	0.21761	N	0.069517	T	0.53690	0.1812	N	0.11673	0.155	0.26036	N	0.98168	P	0.37500	0.597	B	0.20767	0.031	T	0.50898	-0.8773	10	0.22706	T	0.39	-14.3147	3.2727	0.06888	0.0847:0.1489:0.3249:0.4415	.	968	O60312	AT10A_HUMAN	H	968	ENSP00000349325:R968H	ENSP00000349325:R968H	R	-	2	0	ATP10A	23491244	0.982000	0.34865	0.077000	0.20336	0.005000	0.04900	0.525000	0.22956	-0.039000	0.13602	-0.256000	0.11100	CGC		ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
INO80	54617	hgsc.bcm.edu	37	15	41276061	41276061	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr15:41276061T>C	ENST00000361937.3	-	34	4560	c.4136A>G	c.(4135-4137)gAc>gGc	p.D1379G	INO80_ENST00000401393.3_Missense_Mutation_p.D1379G|INO80_ENST00000561244.1_5'Flank			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1379	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GACCAGCATGTCACTGCTGCT	0.552																																																	0			15											115.0	92.0	100.0					15																	41276061		2203	4300	6503	39063353	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.4136A>G	15.37:g.41276061T>C	ENSP00000355205:p.Asp1379Gly	Somatic		Capture	Illumina HiSeq	Phase_I	39063353	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.864075	0.71949	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.92249	-3.0;-3.0	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.93164	0.7823	L	0.34521	1.04	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	D	0.93510	0.6852	10	0.51188	T	0.08	.	14.7983	0.69894	0.0:0.0:0.0:1.0	.	1379	Q9ULG1	INO80_HUMAN	G	1379	ENSP00000355205:D1379G;ENSP00000384686:D1379G	ENSP00000355205:D1379G	D	-	2	0	INO80	39063353	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.669000	0.83911	2.084000	0.62774	0.533000	0.62120	GAC		INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553	
FRMD5	84978	hgsc.bcm.edu	37	15	44166328	44166328	+	Missense_Mutation	SNP	C	C	T	rs551307319		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr15:44166328C>T	ENST00000417257.1	-	14	1644	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	FRMD5_ENST00000402883.1_Missense_Mutation_p.E490K|FRMD5_ENST00000484674.1_Missense_Mutation_p.E396K	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	490						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TGTTCCTCCTCGGGCCCGCTG	0.562													.|||	1	0.000199681	0.0	0.0	5008	,	,		19810	0.0		0.001	False		,,,				2504	0.0																0			15											114.0	96.0	102.0					15																	44166328		2198	4298	6496	41953620	SO:0001583	missense	84978			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.1468G>A	15.37:g.44166328C>T	ENSP00000403067:p.Glu490Lys	Somatic		Capture	Illumina HiSeq	Phase_I	41953620	Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	37	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583679	0.46006	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.84944	-1.68;-1.92;-1.89	6.03	6.03	0.97812	.	0.053243	0.64402	D	0.000001	D	0.84424	0.5469	M	0.62723	1.935	0.46725	D	0.999177	P;P;D;D	0.56968	0.854;0.772;0.978;0.966	B;B;P;P	0.45099	0.162;0.078;0.469;0.45	T	0.81129	-0.1073	10	0.09338	T	0.73	.	19.1447	0.93459	0.0:1.0:0.0:0.0	.	475;490;490;163	Q7Z6J6-2;Q7Z6J6;B5MC67;A8K1U8	.;FRMD5_HUMAN;.;.	K	490;490;456	ENSP00000403067:E490K;ENSP00000384142:E490K;ENSP00000399684:E456K	ENSP00000384142:E490K	E	-	1	0	FRMD5	41953620	0.997000	0.39634	0.998000	0.56505	0.961000	0.63080	3.655000	0.54460	2.854000	0.98071	0.655000	0.94253	GAG		FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892	
SLC28A2	9153	hgsc.bcm.edu	37	15	45554232	45554232	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr15:45554232A>G	ENST00000347644.3	+	4	255	c.190A>G	c.(190-192)Agc>Ggc	p.S64G	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	64					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	GTGGCCTTTCAGCAAAGCAAG	0.398																																					NSCLC(92;493 1501 26361 28917 47116)												0			15											178.0	166.0	170.0					15																	45554232		2198	4298	6496	43341524	SO:0001583	missense	9153			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.190A>G	15.37:g.45554232A>G	ENSP00000315006:p.Ser64Gly	Somatic		Capture	Illumina HiSeq	Phase_I	43341524	A8K7F9|O43239|Q52LZ0	Missense_Mutation	SNP	ENST00000347644.3	37	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	A	4.577	0.107255	0.08780	.	.	ENSG00000137860	ENST00000347644	D	0.82344	-1.6	5.64	-2.9	0.05648	.	1.424290	0.04030	N	0.301229	T	0.60637	0.2284	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45948	-0.9226	10	0.21014	T	0.42	0.1026	0.6462	0.00819	0.2713:0.1329:0.1718:0.424	.	64	O43868	S28A2_HUMAN	G	64	ENSP00000315006:S64G	ENSP00000315006:S64G	S	+	1	0	SLC28A2	43341524	0.000000	0.05858	0.005000	0.12908	0.382000	0.30200	-0.270000	0.08584	-0.156000	0.11079	0.377000	0.23210	AGC		SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212	
RNF111	54778	hgsc.bcm.edu	37	15	59347929	59347929	+	Silent	SNP	C	C	A	rs1446239	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr15:59347929C>A	ENST00000557998.1	+	4	1343	c.1056C>A	c.(1054-1056)tcC>tcA	p.S352S	RNF111_ENST00000559209.1_Silent_p.S352S|RNF111_ENST00000561186.1_Silent_p.S352S|RNF111_ENST00000348370.4_Silent_p.S352S|RNF111_ENST00000434298.1_Silent_p.S352S	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	352	Interaction with AXIN1.|Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GCCAGGGTTCCAGTTCTCATG	0.433													A|||	2212	0.441693	0.6611	0.4986	5008	,	,		16383	0.4405		0.3161	False		,,,				2504	0.2352				NSCLC(72;983 1365 10746 34387 47081)												0			15						A		2723,1661	505.6+/-366.2	863,997,332	56.0	48.0	51.0		1056	-0.0	1.0	15	dbSNP_88	51	3016,5566	661.7+/-401.9	560,1896,1835	yes	coding-synonymous	RNF111	NM_017610.6		1423,2893,2167	AA,AC,CC		35.1433,37.8878,44.2619		352/987	59347929	5739,7227	2192	4291	6483	57135221	SO:0001819	synonymous_variant	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1056C>A	15.37:g.59347929C>A		Somatic		Capture	Illumina HiSeq	Phase_I	57135221	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	37	CCDS58366.1																																																																																				RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610	
LINGO1	84894	hgsc.bcm.edu	37	15	77907145	77907145	+	Silent	SNP	G	G	A	rs3743481	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr15:77907145G>A	ENST00000355300.6	-	2	1278	c.1104C>T	c.(1102-1104)tcC>tcT	p.S368S	LINGO1_ENST00000561030.1_Silent_p.S362S	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	368					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CCAGCGGGTTGGAGTCCAGGA	0.637													G|||	2604	0.519968	0.5666	0.4164	5008	,	,		17828	0.5952		0.4056	False		,,,				2504	0.5706																0			15						G		2162,2064		575,1012,526	42.0	45.0	44.0		1104	4.9	1.0	15	dbSNP_107	44	3157,5271		564,2029,1621	no	coding-synonymous	LINGO1	NM_032808.5		1139,3041,2147	AA,AG,GG		37.4585,48.8405,42.0341		368/621	77907145	5319,7335	2113	4214	6327	75694200	SO:0001819	synonymous_variant	84894			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1104C>T	15.37:g.77907145G>A		Somatic		Capture	Illumina HiSeq	Phase_I	75694200	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	CCDS45313.1																																																																																				LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808	
IGF1R	3480	hgsc.bcm.edu	37	15	99452112	99452112	+	Silent	SNP	C	C	T	rs537098180		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr15:99452112C>T	ENST00000268035.6	+	6	2057	c.1446C>T	c.(1444-1446)aaC>aaT	p.N482N	IGF1R_ENST00000558762.1_Silent_p.N482N	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	482					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCAGGAACAACGGGGAGAGAG	0.512																																																	0			15											96.0	76.0	82.0					15																	99452112		2196	4297	6493	97269635	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1446C>T	15.37:g.99452112C>T		Somatic		Capture	Illumina HiSeq	Phase_I	97269635	B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	CCDS10378.1																																																																																				IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
XG	7499	hgsc.bcm.edu	37	X	2729382	2729382	+	Missense_Mutation	SNP	A	A	G	rs201628009		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chrX:2729382A>G	ENST00000381174.5	+	9	640	c.415A>G	c.(415-417)Atg>Gtg	p.M139V	snoU13_ENST00000516039.1_RNA|XG_ENST00000419513.2_Missense_Mutation_p.M154V|XG_ENST00000426774.1_Missense_Mutation_p.M140V			P55808	XG_HUMAN	Xg blood group	139						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGCAGGCAATATGGTAGCAAA	0.433																																																	0			X						A	VAL/MET,VAL/MET,VAL/MET	0,3835		0,0,1632,571	51.0	48.0	49.0		460,418,415	-0.7	0.0	X		49	2,6724		0,2,2426,1870	yes	missense,missense,missense	XG	NM_001141919.1,NM_001141920.1,NM_175569.2	21,21,21	0,2,4058,2441	GG,GA,AA,A		0.0297,0.0,0.0189	benign,benign,benign	154/196,140/182,139/181	2729382	2,10559	2203	4298	6501	2739382	SO:0001583	missense	100132596			AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"""Blood group antigens"", ""Pseudoautosomal regions / PAR1"""	12806	protein-coding gene	gene with protein product		300879	"""Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"""	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.415A>G	X.37:g.2729382A>G	ENSP00000370566:p.Met139Val	Somatic		Capture	Illumina HiSeq	Phase_I	2739382	E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Missense_Mutation	SNP	ENST00000381174.5	37	CCDS14120.1	.	.	.	.	.	.	.	.	.	.	A	5.638	0.302347	0.10678	0.0	2.97E-4	ENSG00000124343	ENST00000381174;ENST00000419513;ENST00000426774;ENST00000509484;ENST00000533923	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	3.58	-0.727	0.11166	.	2.178760	0.02607	U	0.101685	T	0.10895	0.0266	N	0.19112	0.55	0.09310	N	1	B;B	0.13145	0.007;0.006	B;B	0.14578	0.011;0.006	T	0.14392	-1.0474	10	0.06365	T	0.9	.	2.7504	0.05279	0.5324:0.0:0.2669:0.2008	.	139;154	P55808;P55808-3	XG_HUMAN;.	V	139;154;140;117;1	ENSP00000370566:M139V;ENSP00000411004:M154V;ENSP00000398503:M140V;ENSP00000430005:M117V	ENSP00000370566:M139V	M	+	1	0	XG	2739382	0.006000	0.16342	0.006000	0.13384	0.139000	0.21198	0.991000	0.29654	-0.038000	0.13624	0.303000	0.19852	ATG		XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2	NM_175569	
KDM6A	7403	hgsc.bcm.edu	37	X	44942737	44942737	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chrX:44942737T>C	ENST00000377967.4	+	23	3358	c.3317T>C	c.(3316-3318)cTt>cCt	p.L1106P	KDM6A_ENST00000382899.4_Missense_Mutation_p.L1113P|KDM6A_ENST00000543216.1_Missense_Mutation_p.L1027P|KDM6A_ENST00000536777.1_Missense_Mutation_p.L1061P	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1106	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.		L -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.L1106R(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTGACTAAACTTCCTGCTTTT	0.398			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	7	Whole gene deletion(6)|Substitution - Missense(1)	oesophagus(2)|breast(2)|pancreas(2)|large_intestine(1)	X											145.0	107.0	120.0					X																	44942737		2203	4300	6503	44827681	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3317T>C	X.37:g.44942737T>C	ENSP00000367203:p.Leu1106Pro	Somatic		Capture	Illumina HiSeq	Phase_I	44827681	Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.363272	0.82353	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	5.24	5.24	0.73138	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.91707	0.7378	M	0.92833	3.35	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.997;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.993;0.994;1.0;0.999;0.999	D	0.93562	0.6896	10	0.87932	D	0	-12.5257	14.2463	0.65990	0.0:0.0:0.0:1.0	.	745;1113;1061;1158;1106	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550	.;.;.;.;KDM6A_HUMAN	P	803;1106;1061;1113;1027	ENSP00000367203:L1106P;ENSP00000437405:L1061P;ENSP00000372355:L1113P;ENSP00000443078:L1027P	ENSP00000334340:L803P	L	+	2	0	KDM6A	44827681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.603000	0.82811	1.742000	0.51746	0.472000	0.43445	CTT		KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	
PHKA1	5255	hgsc.bcm.edu	37	X	71830999	71830999	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chrX:71830999C>A	ENST00000373542.4	-	22	2564	c.2405G>T	c.(2404-2406)cGg>cTg	p.R802L	PHKA1_ENST00000373545.3_Missense_Mutation_p.R743L|PHKA1_ENST00000339490.3_Missense_Mutation_p.R802L|PHKA1_ENST00000541944.1_Missense_Mutation_p.R743L|PHKA1_ENST00000373539.3_Missense_Mutation_p.R802L	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	802					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.R802Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TGTAGCACTCCGTTCATTATA	0.428																																																	1	Substitution - Missense(1)	lung(1)	X											83.0	73.0	76.0					X																	71830999		2203	4300	6503	71747724	SO:0001583	missense	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2405G>T	X.37:g.71830999C>A	ENSP00000362643:p.Arg802Leu	Somatic		Capture	Illumina HiSeq	Phase_I	71747724	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287273	0.23478	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.90900	-2.75;-2.74;-2.75;-2.74;-2.75	5.85	0.493	0.16878	Glycoside hydrolase 15-related (1);	0.923503	0.09445	N	0.801259	D	0.83119	0.5185	L	0.33245	0.995	0.09310	N	1	B;B;B	0.19331	0.035;0.0;0.003	B;B;B	0.23852	0.031;0.009;0.049	T	0.66822	-0.5826	10	0.23891	T	0.37	-3.2086	6.0072	0.19553	0.0:0.4232:0.1325:0.4443	.	743;802;802	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	L	743;802;743;802;802	ENSP00000362646:R743L;ENSP00000362643:R802L;ENSP00000441251:R743L;ENSP00000342469:R802L;ENSP00000362640:R802L	ENSP00000342469:R802L	R	-	2	0	PHKA1	71747724	0.000000	0.05858	0.009000	0.14445	0.918000	0.54935	0.246000	0.18160	0.004000	0.14682	0.600000	0.82982	CGG		PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1		
GLUD2	2747	hgsc.bcm.edu	37	X	120182714	120182714	+	Silent	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chrX:120182714C>T	ENST00000328078.1	+	1	1253	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	392					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						CCAAATCCAACGCACCCAGAG	0.493																																																	0			X											195.0	178.0	184.0					X																	120182714		2203	4300	6503	120010395	SO:0001819	synonymous_variant	2747			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1176C>T	X.37:g.120182714C>T		Somatic		Capture	Illumina HiSeq	Phase_I	120010395	B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	37	CCDS14603.1																																																																																				GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084	
CD40LG	959	hgsc.bcm.edu	37	X	135730440	135730440	+	Silent	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chrX:135730440A>G	ENST00000370629.2	+	1	89	c.33A>G	c.(31-33)cgA>cgG	p.R11R	CD40LG_ENST00000370628.2_Silent_p.R11R	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	11					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					CTTCTCCCCGATCTGCGGCCA	0.433									Immune Deficiency with Hyper-IgM																																								0			X											148.0	138.0	141.0					X																	135730440		2203	4300	6503	135558106	SO:0001819	synonymous_variant	959	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.33A>G	X.37:g.135730440A>G		Somatic		Capture	Illumina HiSeq	Phase_I	135558106		Silent	SNP	ENST00000370629.2	37	CCDS14659.1																																																																																				CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074	
ATP11C	286410	hgsc.bcm.edu	37	X	138886723	138886723	+	Silent	SNP	G	G	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chrX:138886723G>T	ENST00000327569.3	-	6	569	c.471C>A	c.(469-471)acC>acA	p.T157T	ATP11C_ENST00000361648.2_Silent_p.T157T|ATP11C_ENST00000359686.2_Silent_p.T157T|ATP11C_ENST00000370557.1_Silent_p.T154T|ATP11C_ENST00000370543.1_Silent_p.T157T	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	157			T -> I (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CACAGGGAAAGGTTTCATCTG	0.368																																																	0			X											187.0	162.0	171.0					X																	138886723		2203	4300	6503	138714389	SO:0001819	synonymous_variant	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.471C>A	X.37:g.138886723G>T		Somatic		Capture	Illumina HiSeq	Phase_I	138714389	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	CCDS14668.1																																																																																				ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	
JAKMIP1	152789	hgsc.bcm.edu	37	4	6037713	6037713	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr4:6037713C>T	ENST00000409021.3	-	19	2746	c.2297G>A	c.(2296-2298)cGc>cAc	p.R766H	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R581H	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	129					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GATCTGCCTGCGCACCTTTTC	0.692																																																	0			4											14.0	18.0	17.0					4																	6037713		2048	3998	6046	6088614	SO:0001583	missense	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2297G>A	4.37:g.6037713C>T	ENSP00000386711:p.Arg766His	Somatic		Capture	Illumina HiSeq	Phase_I	6088614	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000409021.3	37	CCDS47005.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733960	0.89482	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000425341	T;T	0.37584	1.61;1.19	4.79	4.79	0.61399	.	0.135010	0.26045	U	0.026666	T	0.53642	0.1809	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.63113	0.911;0.855	T	0.56727	-0.7931	9	0.62326	D	0.03	.	10.477	0.44670	0.0:0.9111:0.0:0.0889	.	581;766	Q96N16-5;Q96N16-2	.;.	H	766;581;504	ENSP00000386711:R766H;ENSP00000387042:R581H	ENSP00000386711:R766H	R	-	2	0	JAKMIP1	6088614	1.000000	0.71417	0.970000	0.41538	0.994000	0.84299	7.299000	0.78831	2.219000	0.72066	0.436000	0.28706	CGC		JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329747.1	NM_144720	
NAAA	27163	hgsc.bcm.edu	37	4	76836137	76836137	+	Splice_Site	SNP	A	A	G	rs6823734	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr4:76836137A>G	ENST00000286733.4	-	10	1101	c.1000T>C	c.(1000-1002)Ttc>Ctc	p.F334L	NAAA_ENST00000399497.3_Intron|NAAA_ENST00000511606.1_Intron	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	334			F -> L (in dbSNP:rs6823734).		lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						TAAATTGTGAAGCTGAAAATT	0.413													G|||	3728	0.744409	0.975	0.6974	5008	,	,		16888	0.5387		0.7127	False		,,,				2504	0.7106																0			4						G	,LEU/PHE	3413,251		1591,231,10	109.0	101.0	103.0		,1000	-8.0	0.0	4	dbSNP_116	103	5712,2468		2006,1700,384	yes	intron,missense-near-splice	NAAA	NM_001042402.1,NM_014435.3	,22	3597,1931,394	GG,GA,AA		30.1711,6.8504,22.9568	,benign	,334/360	76836137	9125,2719	1832	4090	5922	77055161	SO:0001630	splice_region_variant	27163			M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"""N-acylsphingosine amidohydrolase (acid ceramidase)-like"""	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.999-1T>C	4.37:g.76836137A>G		Somatic		Capture	Illumina HiSeq	Phase_I	77055161	Q5KTF2|Q96EY2|Q9BRA8	Missense_Mutation	SNP	ENST00000286733.4	37	CCDS43239.1	1561	0.7147435897435898	477	0.9695121951219512	263	0.7265193370165746	293	0.5122377622377622	528	0.6965699208443272	G	12.72	2.021135	0.35701	0.931496	0.698289	ENSG00000138744	ENST00000286733	T	0.61392	0.11	5.38	-7.99	0.01131	.	2.715070	0.00780	N	0.001268	T	0.00012	0.0000	N	0.00188	-1.89	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43766	-0.9371	9	0.11485	T	0.65	0.9122	5.4366	0.16484	0.2787:0.0:0.2699:0.4514	rs6823734;rs52832600;rs58370479;rs6823734	334	Q02083	NAAA_HUMAN	L	334	ENSP00000286733:F334L	ENSP00000286733:F334L	F	-	1	0	NAAA	77055161	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	-1.111000	0.03303	-1.179000	0.02737	-1.088000	0.02184	TTC		NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4		Missense_Mutation
PDHA2	5161	hgsc.bcm.edu	37	4	96761377	96761377	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr4:96761377C>T	ENST00000295266.4	+	1	139	c.76C>T	c.(76-78)Cgt>Tgt	p.R26C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	26					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.R26S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GGTGGCATCCCGTAACTCCTC	0.522																																																	1	Substitution - Missense(1)	lung(1)	4											56.0	56.0	56.0					4																	96761377		2203	4300	6503	96980400	SO:0001583	missense	5161				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.76C>T	4.37:g.96761377C>T	ENSP00000295266:p.Arg26Cys	Somatic		Capture	Illumina HiSeq	Phase_I	96980400	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404644	0.42613	.	.	ENSG00000163114	ENST00000295266	D	0.97553	-4.43	4.52	-4.39	0.03611	.	0.242826	0.40728	N	0.001028	D	0.90662	0.7071	L	0.35644	1.08	0.20703	N	0.999864	B	0.09022	0.002	B	0.01281	0.0	T	0.80529	-0.1342	10	0.45353	T	0.12	-3.6194	2.1172	0.03716	0.1577:0.4105:0.1615:0.2703	.	26	P29803	ODPAT_HUMAN	C	26	ENSP00000295266:R26C	ENSP00000295266:R26C	R	+	1	0	PDHA2	96980400	0.000000	0.05858	0.000000	0.03702	0.625000	0.37756	-0.660000	0.05317	-0.535000	0.06307	-0.670000	0.03821	CGT		PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1		
CLGN	1047	hgsc.bcm.edu	37	4	141321660	141321660	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr4:141321660G>T	ENST00000325617.5	-	7	985	c.545C>A	c.(544-546)cCa>cAa	p.P182Q	CLGN_ENST00000537281.1_Missense_Mutation_p.P182Q|CLGN_ENST00000414773.1_Missense_Mutation_p.P182Q	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	182					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)	p.P182R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					ACATTTATCTGGTCCAAACAT	0.333																																																	1	Substitution - Missense(1)	ovary(1)	4											78.0	82.0	81.0					4																	141321660		2203	4298	6501	141541110	SO:0001583	missense	4312			D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.545C>A	4.37:g.141321660G>T	ENSP00000326699:p.Pro182Gln	Somatic		Capture	Illumina HiSeq	Phase_I	141541110	B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919186	0.92249	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.62498	0.02;0.02;0.02	5.36	5.36	0.76844	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, conserved site (1);	0.047867	0.85682	D	0.000000	D	0.85230	0.5649	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88749	0.3249	10	0.87932	D	0	-12.8213	19.4559	0.94889	0.0:0.0:1.0:0.0	.	182	O14967	CLGN_HUMAN	Q	182;182;182;99	ENSP00000326699:P182Q;ENSP00000392782:P182Q;ENSP00000439381:P182Q	ENSP00000326699:P182Q	P	-	2	0	CLGN	141541110	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.669000	0.90835	0.591000	0.81541	CCA		CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362	
GRIA2	2891	hgsc.bcm.edu	37	4	158254091	158254091	+	Missense_Mutation	SNP	G	G	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr4:158254091G>C	ENST00000264426.9	+	7	1282	c.1003G>C	c.(1003-1005)Gca>Cca	p.A335P	GRIA2_ENST00000296526.7_Missense_Mutation_p.A335P|GRIA2_ENST00000393815.2_Missense_Mutation_p.A288P|GRIA2_ENST00000449365.1_Missense_Mutation_p.A288P|GRIA2_ENST00000507898.1_Missense_Mutation_p.A288P	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	335					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GGCAAACCCAGCAGTGCCCTG	0.458																																																	0			4											58.0	64.0	62.0					4																	158254091		2203	4299	6502	158473541	SO:0001583	missense	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1003G>C	4.37:g.158254091G>C	ENSP00000264426:p.Ala335Pro	Somatic		Capture	Illumina HiSeq	Phase_I	158473541	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107046	0.56291	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.14391	2.51;2.51;2.56;2.56;2.51	5.09	5.09	0.68999	Extracellular ligand-binding receptor (1);	0.054918	0.64402	D	0.000001	T	0.30634	0.0771	L	0.39245	1.2	0.80722	D	1	D;B;D	0.89917	0.999;0.111;1.0	D;B;D	0.83275	0.929;0.027;0.996	T	0.01488	-1.1342	10	0.45353	T	0.12	.	18.4737	0.90783	0.0:0.0:1.0:0.0	.	335;335;288	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	P	288;288;335;335;288	ENSP00000426845:A288P;ENSP00000377403:A288P;ENSP00000296526:A335P;ENSP00000264426:A335P;ENSP00000389837:A288P	ENSP00000264426:A335P	A	+	1	0	GRIA2	158473541	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	9.869000	0.99810	2.341000	0.79615	0.557000	0.71058	GCA		GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
CLCN3	1182	hgsc.bcm.edu	37	4	170608810	170608810	+	Splice_Site	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr4:170608810T>C	ENST00000513761.1	+	4	879	c.320T>C	c.(319-321)aTc>aCc	p.I107T	CLCN3_ENST00000504131.2_Splice_Site_p.I90T|CLCN3_ENST00000347613.4_Splice_Site_p.I107T|CLCN3_ENST00000360642.3_Splice_Site_p.I107T	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	107					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TAATTTCAGATCAACAGCAAA	0.353																																																	0			4											97.0	92.0	94.0					4																	170608810		2203	4300	6503	170845385	SO:0001630	splice_region_variant	1182			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.319-1T>C	4.37:g.170608810T>C		Somatic		Capture	Illumina HiSeq	Phase_I	170845385	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.680351	0.88542	.	.	ENSG00000109572	ENST00000511092;ENST00000513761;ENST00000347613;ENST00000360642;ENST00000512813;ENST00000538301;ENST00000504131;ENST00000507875	D;D;D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93	5.29	5.29	0.74685	Chloride channel, core (1);	0.000000	0.85682	D	0.000000	D	0.93693	0.7985	L	0.48260	1.515	0.80722	D	1	D;P;P;D;D	0.61080	0.981;0.95;0.95;0.981;0.989	P;P;P;P;P	0.61201	0.844;0.77;0.77;0.844;0.885	D	0.94436	0.7654	10	0.87932	D	0	-7.2237	15.2291	0.73372	0.0:0.0:0.0:1.0	.	107;90;80;107;107	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	T	107;107;107;107;107;107;90;80	ENSP00000425160:I107T;ENSP00000424603:I107T;ENSP00000261514:I107T;ENSP00000353857:I107T;ENSP00000425823:I107T;ENSP00000424540:I90T;ENSP00000425323:I80T	ENSP00000261514:I107T	I	+	2	0	CLCN3	170845385	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	1.998000	0.58463	0.455000	0.32223	ATC		CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2		Missense_Mutation
SNX25	83891	hgsc.bcm.edu	37	4	186267729	186267729	+	Silent	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr4:186267729T>C	ENST00000504273.1	+	13	2028	c.1734T>C	c.(1732-1734)ctT>ctC	p.L578L	SNX25_ENST00000264694.8_Silent_p.L578L|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	578	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TGCCTTCTCTTAGCAAGCTGC	0.308																																																	0			4											61.0	64.0	63.0					4																	186267729		2203	4298	6501	186504723	SO:0001819	synonymous_variant	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1734T>C	4.37:g.186267729T>C		Somatic		Capture	Illumina HiSeq	Phase_I	186504723	Q3ZT30|Q8N6K3	Silent	SNP	ENST00000504273.1	37	CCDS34116.1																																																																																				SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953	
SDC1	6382	hgsc.bcm.edu	37	2	20403740	20403740	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr2:20403740T>C	ENST00000254351.4	-	3	705	c.461A>G	c.(460-462)cAc>cGc	p.H154R	SDC1_ENST00000403076.1_Missense_Mutation_p.H154R|SDC1_ENST00000482879.1_Intron|SDC1_ENST00000381150.1_Missense_Mutation_p.H154R	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	154					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CATGTCCCTGTGGGGGTGGGA	0.667																																																	0			2											88.0	88.0	88.0					2																	20403740		2203	4300	6503	20267221	SO:0001583	missense	6382			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.461A>G	2.37:g.20403740T>C	ENSP00000254351:p.His154Arg	Somatic		Capture	Illumina HiSeq	Phase_I	20267221	D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	T	8.919	0.960494	0.18583	.	.	ENSG00000115884	ENST00000254351;ENST00000381150;ENST00000403076;ENST00000429035	T;T;T;T	0.34667	2.35;2.35;1.35;1.47	3.87	-1.85	0.07784	.	0.476710	0.19395	N	0.115308	T	0.41811	0.1175	M	0.73962	2.25	0.18873	N	0.999983	D;P	0.53462	0.96;0.918	P;P	0.51777	0.679;0.604	T	0.34900	-0.9810	10	0.87932	D	0	-8.6825	5.9793	0.19399	0.1553:0.0:0.4401:0.4046	.	154;154	E9PHH3;P18827	.;SDC1_HUMAN	R	154;154;154;162	ENSP00000254351:H154R;ENSP00000370542:H154R;ENSP00000384613:H154R;ENSP00000400773:H162R	ENSP00000254351:H154R	H	-	2	0	SDC1	20267221	0.924000	0.31332	0.230000	0.23976	0.083000	0.17756	0.438000	0.21559	-0.293000	0.08986	0.459000	0.35465	CAC		SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946	
SLC30A3	7781	hgsc.bcm.edu	37	2	27481175	27481175	+	Splice_Site	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr2:27481175C>T	ENST00000233535.4	-	3	630	c.278G>A	c.(277-279)gGc>gAc	p.G93D	SLC30A3_ENST00000447008.2_Splice_Site_p.G88D	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	93					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGATACCCGCCTGCCAGGGT	0.507																																																	0			2											32.0	34.0	33.0					2																	27481175		2203	4300	6503	27334679	SO:0001630	splice_region_variant	7781			U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.278-1G>A	2.37:g.27481175C>T		Somatic		Capture	Illumina HiSeq	Phase_I	27334679	Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998502	0.93227	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000432351;ENST00000426924;ENST00000424577;ENST00000450118;ENST00000426569	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.86715	0.5999	H	0.97465	4.01	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.993;0.995	D	0.90954	0.4807	10	0.87932	D	0	.	17.2848	0.87138	0.0:1.0:0.0:0.0	.	88;93	F5H3B7;Q99726	.;ZNT3_HUMAN	D	93;88;44;80;71;44;44	ENSP00000233535:G93D;ENSP00000415226:G88D;ENSP00000414320:G44D;ENSP00000393545:G80D;ENSP00000403959:G71D;ENSP00000403912:G44D;ENSP00000392673:G44D	ENSP00000233535:G93D	G	-	2	0	SLC30A3	27334679	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.746000	0.85057	2.768000	0.95171	0.561000	0.74099	GGC		SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2		Missense_Mutation
GTF3C2	2976	hgsc.bcm.edu	37	2	27565858	27565858	+	Missense_Mutation	SNP	A	A	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr2:27565858A>C	ENST00000359541.2	-	3	833	c.404T>G	c.(403-405)cTg>cGg	p.L135R	AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000588707.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.L135R|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000589853.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	135					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGGTGGACAGAGGGTTGGA	0.527																																																	0			2											103.0	98.0	100.0					2																	27565858		2203	4300	6503	27419362	SO:0001583	missense	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.404T>G	2.37:g.27565858A>C	ENSP00000352536:p.Leu135Arg	Somatic		Capture	Illumina HiSeq	Phase_I	27419362	D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.437576	0.62955	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	T;T	0.74526	-0.85;-0.85	5.31	4.15	0.48705	.	0.195444	0.34025	N	0.004339	T	0.68044	0.2958	N	0.19112	0.55	0.34624	D	0.718937	D;P;D	0.61080	0.989;0.93;0.98	P;P;P	0.61201	0.885;0.462;0.804	T	0.68891	-0.5289	10	0.17369	T	0.5	-9.4886	6.3761	0.21509	0.89:0.0:0.11:0.0	.	135;135;135	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	R	135	ENSP00000352536:L135R;ENSP00000264720:L135R	ENSP00000264720:L135R	L	-	2	0	GTF3C2	27419362	0.951000	0.32395	0.929000	0.37066	0.986000	0.74619	2.039000	0.41193	2.231000	0.72958	0.460000	0.39030	CTG		GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2		
FSHR	2492	hgsc.bcm.edu	37	2	49381418	49381418	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr2:49381418T>C	ENST00000406846.2	-	1	258	c.139A>G	c.(139-141)Aat>Gat	p.N47D	FSHR_ENST00000346173.3_Missense_Mutation_p.N47D|FSHR_ENST00000304421.4_Missense_Mutation_p.N47D	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	47					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.N47Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCAATGGCATTCCTCGGGAGG	0.468									Gonadal Dysgenesis, 46 XX																																								1	Substitution - Missense(1)	ovary(1)	2											69.0	69.0	69.0					2																	49381418		2203	4300	6503	49234922	SO:0001583	missense	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.139A>G	2.37:g.49381418T>C	ENSP00000384708:p.Asn47Asp	Somatic		Capture	Illumina HiSeq	Phase_I	49234922	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	T	8.426	0.847606	0.17034	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.46	4.31	0.51392	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75642	0.3877	L	0.39020	1.185	0.80722	D	1	B;B;B	0.13594	0.008;0.001;0.001	B;B;B	0.11329	0.006;0.006;0.002	T	0.66626	-0.5876	9	.	.	.	.	8.0138	0.30368	0.0:0.0895:0.0:0.9105	.	47;47;47	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	D	47	ENSP00000384708:N47D;ENSP00000333908:N47D;ENSP00000306780:N47D;ENSP00000415504:N47D	.	N	-	1	0	FSHR	49234922	1.000000	0.71417	0.989000	0.46669	0.288000	0.27193	2.765000	0.47621	1.092000	0.41356	0.533000	0.62120	AAT		FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2		
ATP6V1B1	525	hgsc.bcm.edu	37	2	71163089	71163089	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr2:71163089C>T	ENST00000234396.4	+	1	78	c.5C>T	c.(4-6)gCc>gTc	p.A2V	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.A2V	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	2					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						TGCTCCATGGCCATGGAGATA	0.632																																																	0			2											34.0	37.0	36.0					2																	71163089		2203	4300	6503	71016597	SO:0001583	missense	525			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.5C>T	2.37:g.71163089C>T	ENSP00000234396:p.Ala2Val	Somatic		Capture	Illumina HiSeq	Phase_I	71016597	Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300374	0.40694	.	.	ENSG00000116039	ENST00000234396;ENST00000412314	D;D	0.83075	-1.68;-1.68	4.9	4.9	0.64082	.	0.000000	0.39475	N	0.001355	T	0.79639	0.4480	N	0.14661	0.345	0.36812	D	0.885936	D;D	0.58268	0.982;0.982	P;P	0.53649	0.731;0.731	D	0.84951	0.0871	10	0.54805	T	0.06	-16.0861	15.5933	0.76558	0.0:1.0:0.0:0.0	.	2;2	C9JL73;P15313	.;VATB1_HUMAN	V	2	ENSP00000234396:A2V;ENSP00000388353:A2V	ENSP00000234396:A2V	A	+	2	0	ATP6V1B1	71016597	0.988000	0.35896	0.944000	0.38274	0.202000	0.24057	2.804000	0.47931	2.261000	0.74972	0.591000	0.81541	GCC		ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692	
MPHOSPH10	10199	hgsc.bcm.edu	37	2	71365676	71365676	+	Silent	SNP	G	G	A	rs357756	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr2:71365676G>A	ENST00000244230.2	+	5	1507	c.1155G>A	c.(1153-1155)caG>caA	p.Q385Q	MPHOSPH10_ENST00000498451.2_Silent_p.Q385Q	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	385					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AGCCGTGGCAGCTTCAGGGGG	0.413													G|||	1532	0.305911	0.261	0.3934	5008	,	,		14422	0.2639		0.2942	False		,,,				2504	0.3599																0			2						G		1101,3305	393.3+/-328.8	137,827,1239	35.0	38.0	37.0		1155	-0.1	1.0	2	dbSNP_79	37	2544,6056	411.3+/-350.5	395,1754,2151	no	coding-synonymous	MPHOSPH10	NM_005791.2		532,2581,3390	AA,AG,GG		29.5814,24.9887,28.0255		385/682	71365676	3645,9361	2203	4300	6503	71219184	SO:0001819	synonymous_variant	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1155G>A	2.37:g.71365676G>A		Somatic		Capture	Illumina HiSeq	Phase_I	71219184	A0AVJ8	Silent	SNP	ENST00000244230.2	37	CCDS1916.1																																																																																				MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791	
PTCD3	55037	hgsc.bcm.edu	37	2	86333384	86333384	+	Missense_Mutation	SNP	C	C	G	rs537889886		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr2:86333384C>G	ENST00000254630.7	+	1	80	c.14C>G	c.(13-15)tCt>tGt	p.S5C	POLR1A_ENST00000263857.6_5'Flank|PTCD3_ENST00000465560.1_3'UTR|POLR1A_ENST00000409681.1_5'Flank|PTCD3_ENST00000409277.3_Missense_Mutation_p.S5C	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	5					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GCGGTTGTATCTGCTGTTCGC	0.632																																																	0			2											50.0	52.0	52.0					2																	86333384		2203	4300	6503	86186895	SO:0001583	missense	55037				CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.14C>G	2.37:g.86333384C>G	ENSP00000254630:p.Ser5Cys	Somatic		Capture	Illumina HiSeq	Phase_I	86186895	A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356157	0.41700	.	.	ENSG00000132300	ENST00000254630;ENST00000409783;ENST00000409277	T;T;T	0.52526	1.47;0.71;0.66	5.22	1.0	0.19881	.	0.797892	0.11833	N	0.525071	T	0.19805	0.0476	N	0.02539	-0.55	0.09310	N	1	B	0.28512	0.214	B	0.28305	0.088	T	0.17501	-1.0367	10	0.72032	D	0.01	2.592	3.7476	0.08554	0.1589:0.4446:0.3088:0.0877	.	5	Q96EY7	PTCD3_HUMAN	C	5	ENSP00000254630:S5C;ENSP00000386922:S5C;ENSP00000386462:S5C	ENSP00000254630:S5C	S	+	2	0	PTCD3	86186895	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.517000	0.02248	0.272000	0.22027	0.557000	0.71058	TCT		PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952	
UBR3	130507	hgsc.bcm.edu	37	2	170684455	170684455	+	Silent	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr2:170684455C>T	ENST00000272793.5	+	1	488	c.438C>T	c.(436-438)gcC>gcT	p.A146A	UBR3_ENST00000418381.1_Silent_p.A146A			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	146					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CGCTGTGCGCCGAGTGCTTCC	0.692																																																	0			2											10.0	10.0	10.0					2																	170684455		686	1587	2273	170392701	SO:0001819	synonymous_variant	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.438C>T	2.37:g.170684455C>T		Somatic		Capture	Illumina HiSeq	Phase_I	170392701	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37																																																																																					UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	
MYO3B	140469	hgsc.bcm.edu	37	2	171240249	171240249	+	Silent	SNP	C	C	T	rs11675394	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr2:171240249C>T	ENST00000408978.4	+	12	1358	c.1215C>T	c.(1213-1215)cgC>cgT	p.R405R	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Silent_p.R414R|MYO3B_ENST00000409044.3_Silent_p.R405R	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	405	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.S397_A406del(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGGTGAAACGCGCCTCCAATC	0.453													C|||	1079	0.215455	0.0303	0.2493	5008	,	,		20601	0.2887		0.325	False		,,,				2504	0.2536																1	Deletion - In frame(1)	ovary(1)	2						C	,,	327,3487		13,301,1593	120.0	112.0	114.0		1215,1215,1215	-2.5	1.0	2	dbSNP_120	114	2679,5543		437,1805,1869	no	coding-synonymous,coding-synonymous,coding-synonymous	MYO3B	NM_001083615.2,NM_001171642.1,NM_138995.3	,,	450,2106,3462	TT,TC,CC		32.5833,8.5737,24.9751	,,	405/1315,405/1276,405/1342	171240249	3006,9030	1907	4111	6018	170948495	SO:0001819	synonymous_variant	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1215C>T	2.37:g.171240249C>T		Somatic		Capture	Illumina HiSeq	Phase_I	170948495	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	CCDS42773.1																																																																																				MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
STK36	27148	hgsc.bcm.edu	37	2	219562675	219562675	+	Missense_Mutation	SNP	G	G	A	rs1863704	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr2:219562675G>A	ENST00000295709.3	+	25	3287	c.3008G>A	c.(3007-3009)gGt>gAt	p.G1003D	STK36_ENST00000440309.1_Missense_Mutation_p.G1003D|STK36_ENST00000392105.3_Missense_Mutation_p.G982D|STK36_ENST00000392106.2_Missense_Mutation_p.G982D	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)		CTCCTTATAGGTGTCTTGGCC	0.557													G|||	950	0.189696	0.0212	0.3285	5008	,	,		21184	0.0556		0.3757	False		,,,				2504	0.2658																0			2						G	ASP/GLY	336,4070	178.7+/-207.4	11,314,1878	149.0	131.0	137.0		3008	2.0	0.0	2	dbSNP_92	137	3284,5316	492.8+/-373.4	656,1972,1672	yes	missense	STK36	NM_015690.4	94	667,2286,3550	AA,AG,GG		38.186,7.626,27.8333	possibly-damaging	1003/1316	219562675	3620,9386	2203	4300	6503	219270919	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.3008G>A	2.37:g.219562675G>A	ENSP00000295709:p.Gly1003Asp	Somatic		Capture	Illumina HiSeq	Phase_I	219270919		Missense_Mutation	SNP	ENST00000295709.3	37	CCDS2421.1	454|454	0.2078754578754579|0.2078754578754579	23|23	0.046747967479674794|0.046747967479674794	112|112	0.30939226519337015|0.30939226519337015	36|36	0.06293706293706294|0.06293706293706294	283|283	0.3733509234828496|0.3733509234828496	G|G	0.208|0.208	-1.039006|-1.039006	0.02013|0.02013	0.07626|0.07626	0.38186|0.38186	ENSG00000163482|ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309|ENST00000431040	T;T;T;T|.	0.69561|.	-0.4;-0.4;-0.41;-0.4|.	5.82|5.82	2.01|2.01	0.26516|0.26516	.|.	0.790460|.	0.11084|.	N|.	0.601535|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	P|P	0.0|0.0	B;P;B|.	0.39424|.	0.001;0.673;0.179|.	B;B;B|.	0.36464|.	0.001;0.225;0.077|.	T|T	0.47699|0.47699	-0.9097|-0.9097	9|4	0.32370|.	T|.	0.25|.	-0.0347|-0.0347	6.8511|6.8511	0.24014|0.24014	0.3342:0.0:0.5491:0.1167|0.3342:0.0:0.5491:0.1167	rs1863704;rs56519430;rs57906514;rs1863704|rs1863704;rs56519430;rs57906514;rs1863704	982;982;1003|.	A8MU99;Q9NRP7-2;Q9NRP7|.	.;.;STK36_HUMAN|.	D|M	1003;982;982;1003|196	ENSP00000295709:G1003D;ENSP00000375955:G982D;ENSP00000375954:G982D;ENSP00000394095:G1003D|.	ENSP00000295709:G1003D|.	G|V	+|+	2|1	0|0	STK36|STK36	219270919|219270919	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.823000|0.823000	0.27366|0.27366	0.122000|0.122000	0.18314|0.18314	-0.797000|-0.797000	0.03246|0.03246	GGT|GTG		STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2		
RHBDD1	84236	hgsc.bcm.edu	37	2	227778996	227778996	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr2:227778996A>G	ENST00000341329.3	+	6	1027	c.785A>G	c.(784-786)gAc>gGc	p.D262G	RHBDD1_ENST00000493526.1_3'UTR|RHBDD1_ENST00000409053.1_Missense_Mutation_p.D96G|RHBDD1_ENST00000392062.2_Missense_Mutation_p.D262G	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	262					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.D262G(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		AGGAACTATGACACGTACACA	0.488																																																	1	Substitution - Missense(1)	ovary(1)	2											123.0	119.0	121.0					2																	227778996		2203	4300	6503	227487240	SO:0001583	missense	84236			AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.785A>G	2.37:g.227778996A>G	ENSP00000344779:p.Asp262Gly	Somatic		Capture	Illumina HiSeq	Phase_I	227487240	Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Missense_Mutation	SNP	ENST00000341329.3	37	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.662232	0.29515	.	.	ENSG00000144468	ENST00000341329;ENST00000392062;ENST00000409053	T;T	0.45668	0.89;0.89	6.06	4.9	0.64082	.	0.326994	0.34676	N	0.003766	T	0.43366	0.1244	L	0.56769	1.78	0.23314	N	0.997922	P;B	0.51351	0.944;0.009	P;B	0.47075	0.536;0.005	T	0.31251	-0.9950	10	0.27082	T	0.32	-11.713	10.4493	0.44513	0.8366:0.1634:0.0:0.0	.	53;262	Q8TEB9-2;Q8TEB9	.;RHBD1_HUMAN	G	262;262;96	ENSP00000344779:D262G;ENSP00000375914:D262G	ENSP00000344779:D262G	D	+	2	0	RHBDD1	227487240	0.761000	0.28439	0.194000	0.23346	0.426000	0.31534	2.084000	0.41625	1.087000	0.41251	0.528000	0.53228	GAC		RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2		
IFNA5	3442	hgsc.bcm.edu	37	9	21304926	21304926	+	Silent	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr9:21304926A>G	ENST00000259555.4	-	1	386	c.330T>C	c.(328-330)acT>acC	p.T110T		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	110					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGTAAAGTTCAGTGTAGAATT	0.468																																																	0			9											119.0	116.0	117.0					9																	21304926		2203	4300	6503	21294926	SO:0001819	synonymous_variant	3442				CCDS6502.1	9p22	2010-08-24			ENSG00000147873	ENSG00000147873		"""Interferons"""	5426	protein-coding gene	gene with protein product		147565				1385305	Standard	NM_002169		Approved	IFN-alphaG	uc011lnh.2	P01569	OTTHUMG00000019664	ENST00000259555.4:c.330T>C	9.37:g.21304926A>G		Somatic		Capture	Illumina HiSeq	Phase_I	21294926	Q52LX3	Silent	SNP	ENST00000259555.4	37	CCDS6502.1																																																																																				IFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051893.1	NM_002169	
AQP3	360	hgsc.bcm.edu	37	9	33447424	33447424	+	Silent	SNP	C	C	G	rs591810	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr9:33447424C>G	ENST00000297991.4	-	1	185	c.105G>C	c.(103-105)ctG>ctC	p.L35L	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	35					excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		CACTCACCACCAGGATGAGGG	0.647													G|||	3712	0.741214	0.7837	0.83	5008	,	,		13427	0.7629		0.7286	False		,,,				2504	0.6115																0			9						G		3484,898		1401,682,108	21.0	24.0	23.0		105	2.7	1.0	9	dbSNP_83	23	6151,2445		2244,1663,391	no	coding-synonymous	AQP3	NM_004925.4		3645,2345,499	GG,GC,CC		28.4435,20.4929,25.759		35/293	33447424	9635,3343	2191	4298	6489	33437424	SO:0001819	synonymous_variant	360				CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"""Ion channels / Aquaporins"", ""Blood group antigens"""	636	protein-coding gene	gene with protein product	"""Gill blood group"""	600170	"""aquaporin 3"", ""aquaporin 3 (GIL blood group)"""			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.105G>C	9.37:g.33447424C>G		Somatic		Capture	Illumina HiSeq	Phase_I	33437424	A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	Silent	SNP	ENST00000297991.4	37	CCDS6542.1																																																																																				AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052055.1	NM_004925	
SVEP1	79987	hgsc.bcm.edu	37	9	113275227	113275227	+	Missense_Mutation	SNP	C	C	T	rs10980419	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr9:113275227C>T	ENST00000401783.2	-	5	1618	c.1282G>A	c.(1282-1284)Ggt>Agt	p.G428S	SVEP1_ENST00000374461.1_Missense_Mutation_p.G405S|SVEP1_ENST00000302728.8_Missense_Mutation_p.G428S|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.G405S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	428	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.		G -> S (in dbSNP:rs10980419).		cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTCTCTGAACCGGACCACAAA	0.443													C|||	207	0.0413339	0.0023	0.0086	5008	,	,		17993	0.1071		0.0169	False		,,,				2504	0.0746																0			9						C	SER/GLY	22,3858		0,22,1918	99.0	94.0	96.0		1282	2.2	0.4	9	dbSNP_120	96	224,8054		3,218,3918	yes	missense	SVEP1	NM_153366.3	56	3,240,5836	TT,TC,CC		2.706,0.567,2.0234	benign	428/3572	113275227	246,11912	1940	4139	6079	112315048	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1282G>A	9.37:g.113275227C>T	ENSP00000384917:p.Gly428Ser	Somatic		Capture	Illumina HiSeq	Phase_I	112315048	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	83	0.038003663003663	1	0.0020325203252032522	2	0.0055248618784530384	65	0.11363636363636363	15	0.01978891820580475	C	21.0	4.077805	0.76528	0.00567	0.02706	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.99	2.19	0.27852	Complement control module (2);Growth factor, receptor (1);Sushi/SCR/CCP (3);	0.097518	0.64402	N	0.000001	T	0.00784	0.0026	M	0.81682	2.555	0.41592	D	0.988807	P;P;D;B	0.55172	0.856;0.721;0.97;0.449	B;B;P;B	0.49922	0.333;0.234;0.626;0.15	T	0.00091	-1.2084	10	0.42905	T	0.14	.	10.2762	0.43512	0.0:0.7396:0.0:0.2604	rs10980419;rs52828370;rs10980419	428;428;428;428	E9PBN8;Q4LDE5;B3KV07;Q4LDE5-2	.;SVEP1_HUMAN;.;.	S	428;405;428;405	ENSP00000384917:G428S;ENSP00000363593:G405S;ENSP00000304118:G428S;ENSP00000363585:G405S	ENSP00000304118:G428S	G	-	1	0	SVEP1	112315048	0.993000	0.37304	0.429000	0.26710	0.916000	0.54674	3.077000	0.50089	0.152000	0.19188	-0.136000	0.14681	GGT		SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
GPR144	347088	hgsc.bcm.edu	37	9	127215778	127215778	+	Missense_Mutation	SNP	C	C	T	rs67997410	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr9:127215778C>T	ENST00000334810.1	+	4	802	c.802C>T	c.(802-804)Ctc>Ttc	p.L268F				Q7Z7M1	GP144_HUMAN	G protein-coupled receptor 144	268	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)	4						GCGTCACGCCCTCAGCGGCAA	0.756													T|||	3825	0.763778	0.9486	0.7363	5008	,	,		6605	0.8631		0.5736	False		,,,				2504	0.6268																0			9											4.0	5.0	4.0					9																	127215778		654	1509	2163	126255599	SO:0001583	missense	347088			AY278562		9q34.11	2014-08-08			ENSG00000180264	ENSG00000180264		"""-"", ""GPCR / Class B : Orphans"""	18651	protein-coding gene	gene with protein product							Standard	XM_006710216		Approved	PGR24	uc010mwn.3	Q7Z7M1	OTTHUMG00000020652	ENST00000334810.1:c.802C>T	9.37:g.127215778C>T	ENSP00000335156:p.Leu268Phe	Somatic		Capture	Illumina HiSeq	Phase_I	126255599	Q86SL4|Q8NH12	Missense_Mutation	SNP	ENST00000334810.1	37	CCDS48016.1	1591	0.7284798534798534	428	0.8699186991869918	247	0.6823204419889503	488	0.8531468531468531	428	0.5646437994722955	T	0.219	-1.029965	0.02045	.	.	ENSG00000180264	ENST00000334810	T	0.51817	0.69	3.81	2.61	0.31194	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.00012	0.0000	N	0.00205	-1.85	0.52501	P	4.199999999998649E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.27606	-1.0069	8	0.12103	T	0.63	.	4.8806	0.13677	0.1631:0.0944:0.0:0.7425	.	268	Q7Z7M1	GP144_HUMAN	F	268	ENSP00000335156:L268F	ENSP00000335156:L268F	L	+	1	0	GPR144	126255599	1.000000	0.71417	0.629000	0.29254	0.351000	0.29236	3.633000	0.54295	-0.045000	0.13468	-0.817000	0.03123	CTC		GPR144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054026.2	NM_182611	
ABHD13	84945	hgsc.bcm.edu	37	13	108882235	108882235	+	Silent	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr13:108882235A>G	ENST00000375898.3	+	2	970	c.669A>G	c.(667-669)ccA>ccG	p.P223P		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	223						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.P223P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TAAGCATACCACATATGGCCA	0.388																																					Pancreas(22;506 789 38166 45896 51596)												1	Substitution - coding silent(1)	ovary(1)	13											121.0	119.0	119.0					13																	108882235		2203	4300	6503	107680236	SO:0001819	synonymous_variant	84945			AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"""Abhydrolase domain containing"""	20293	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 6"""	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.669A>G	13.37:g.108882235A>G		Somatic		Capture	Illumina HiSeq	Phase_I	107680236	B3KWE7|Q8NBW1|Q96JX9	Silent	SNP	ENST00000375898.3	37	CCDS32007.1																																																																																				ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045743.1	NM_032859	
SPAG6	9576	hgsc.bcm.edu	37	10	22675815	22675815	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr10:22675815C>T	ENST00000376624.3	+	5	747	c.605C>T	c.(604-606)gCa>gTa	p.A202V	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.A177V|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376603.2_Missense_Mutation_p.A278V|SPAG6_ENST00000313311.6_Missense_Mutation_p.A202V	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	202					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CCAGAGTTAGCACAGACAGTA	0.423																																																	0			10											112.0	106.0	108.0					10																	22675815		2203	4300	6503	22715821	SO:0001583	missense	9576			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.605C>T	10.37:g.22675815C>T	ENSP00000365811:p.Ala202Val	Somatic		Capture	Illumina HiSeq	Phase_I	22715821	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980249	0.53827	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.6	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.046053	0.85682	N	0.000000	D	0.84032	0.5383	M	0.88241	2.94	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.998;0.999	D	0.87380	0.2356	10	0.72032	D	0.01	-20.0511	14.7982	0.69894	0.0:0.9307:0.0:0.0693	.	177;278;202;202	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	V	202;278;177;202	ENSP00000365811:A202V;ENSP00000365788:A278V;ENSP00000441325:A177V;ENSP00000323599:A202V	ENSP00000323599:A202V	A	+	2	0	SPAG6	22715821	1.000000	0.71417	0.718000	0.30602	0.067000	0.16453	5.971000	0.70440	1.509000	0.48786	-0.253000	0.11424	GCA		SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1		
MYPN	84665	hgsc.bcm.edu	37	10	69955237	69955237	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr10:69955237G>A	ENST00000358913.5	+	15	3594	c.3106G>A	c.(3106-3108)Gta>Ata	p.V1036I	MYPN_ENST00000354393.2_Missense_Mutation_p.V761I|MYPN_ENST00000540630.1_Missense_Mutation_p.V1036I	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1036	Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCACTTGATGGTACAAAGTTT	0.428																																																	0			10											104.0	99.0	101.0					10																	69955237		2203	4300	6503	69625243	SO:0001583	missense	84665			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3106G>A	10.37:g.69955237G>A	ENSP00000351790:p.Val1036Ile	Somatic		Capture	Illumina HiSeq	Phase_I	69625243	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473457	0.84640	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.74209	-0.82;-0.82;-0.82	5.45	4.53	0.55603	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.069454	0.56097	D	0.000022	D	0.84279	0.5437	M	0.68728	2.09	0.80722	D	1	B;B;D	0.61080	0.403;0.403;0.989	B;B;D	0.79784	0.255;0.255;0.993	D	0.84611	0.0678	9	.	.	.	.	15.753	0.78001	0.0:0.0:0.8622:0.1378	.	1036;761;1036	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	I	761;761;1036;1036	ENSP00000346369:V761I;ENSP00000351790:V1036I;ENSP00000441668:V1036I	.	V	+	1	0	MYPN	69625243	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.514000	0.81750	1.401000	0.46761	0.655000	0.94253	GTA		MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578	
CDH23	64072	hgsc.bcm.edu	37	10	73537647	73537647	+	Missense_Mutation	SNP	G	G	A	rs373836924		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr10:73537647G>A	ENST00000224721.6	+	38	5076	c.5071G>A	c.(5071-5073)Gac>Aac	p.D1691N		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1686	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTTCCGCATCGACAGACACAT	0.572																																																	0			10						G	ASN/ASP	2,4364		0,2,2181	68.0	62.0	64.0		5056	-11.0	0.0	10		64	0,8566		0,0,4283	no	missense	CDH23	NM_022124.5	23	0,2,6464	AA,AG,GG		0.0,0.0458,0.0155	benign	1686/3355	73537647	2,12930	2183	4283	6466	73207653	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5071G>A	10.37:g.73537647G>A	ENSP00000224721:p.Asp1691Asn	Somatic		Capture	Illumina HiSeq	Phase_I	73207653	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	G	1.228	-0.624899	0.03636	4.58E-4	0.0	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.76	-11.0	0.00169	Cadherin (4);Cadherin-like (1);	0.771452	0.12391	N	0.472978	T	0.36276	0.0961	N	0.25957	0.775	0.36264	D	0.854752	B	0.02656	0.0	B	0.09377	0.004	T	0.31943	-0.9925	9	0.16420	T	0.52	.	17.3357	0.87280	0.7526:0.0767:0.1708:0.0	.	1686	Q9H251	CAD23_HUMAN	N	1691;1686;1689	.	ENSP00000224721:D1691N	D	+	1	0	CDH23	73207653	0.000000	0.05858	0.000000	0.03702	0.546000	0.35178	-0.837000	0.04377	-2.988000	0.00280	-1.202000	0.01658	GAC		CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
CHST3	9469	hgsc.bcm.edu	37	10	73767717	73767717	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr10:73767717C>T	ENST00000373115.4	+	3	1365	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	310					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						GCTGGCCTCGCGCATGGTGGC	0.706																																																	0			10											5.0	6.0	6.0					10																	73767717		1901	3742	5643	73437723	SO:0001583	missense	9469			AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.928C>T	10.37:g.73767717C>T	ENSP00000362207:p.Arg310Cys	Somatic		Capture	Illumina HiSeq	Phase_I	73437723	O75099|Q52M30	Missense_Mutation	SNP	ENST00000373115.4	37	CCDS7312.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837978	0.91117	.	.	ENSG00000122863	ENST00000373115	T	0.81415	-1.49	5.55	5.55	0.83447	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.92374	0.7580	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93801	0.7101	10	0.87932	D	0	-27.1064	18.5034	0.90889	0.0:1.0:0.0:0.0	.	310	Q7LGC8	CHST3_HUMAN	C	310	ENSP00000362207:R310C	ENSP00000362207:R310C	R	+	1	0	CHST3	73437723	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.724000	0.61972	2.630000	0.89119	0.561000	0.74099	CGC		CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273	
PTEN	5728	hgsc.bcm.edu	37	10	89624289	89624289	+	Silent	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr10:89624289C>T	ENST00000371953.3	+	1	1420	c.63C>T	c.(61-63)ttC>ttT	p.F21F	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	21	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.Y16fs*21(1)|p.R14_D22del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGATGGATTCGACTTAGACT	0.468		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	52	Whole gene deletion(37)|Unknown(13)|Deletion - In frame(1)|Deletion - Frameshift(1)	prostate(14)|central_nervous_system(9)|skin(7)|lung(6)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|endometrium(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	10											177.0	168.0	171.0					10																	89624289		2203	4300	6503	89614269	SO:0001819	synonymous_variant	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.63C>T	10.37:g.89624289C>T		Somatic		Capture	Illumina HiSeq	Phase_I	89614269	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89692850	89692850	+	Silent	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr10:89692850C>T	ENST00000371953.3	+	5	1691	c.334C>T	c.(334-336)Cta>Tta	p.L112L		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	112	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		L -> P (in CWS1 and LDD; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:10051160, ECO:0000269|PubMed:9600246}.|L -> R (loss of phosphatase activity towards Ins(1,3,4,5)P4).		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.L112V(5)|p.R55fs*1(5)|p.Y27fs*1(2)|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)		TGACCAATGGCTAAGTGAAGA	0.388		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"""	55	Whole gene deletion(37)|Deletion - Frameshift(8)|Substitution - Missense(5)|Unknown(5)	prostate(16)|central_nervous_system(13)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	10	GRCh37	CM031337	PTEN	S							128.0	118.0	121.0					10																	89692850		2203	4297	6500	89682830	SO:0001819	synonymous_variant	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.334C>T	10.37:g.89692850C>T		Somatic		Capture	Illumina HiSeq	Phase_I	89682830	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
CHUK	1147	hgsc.bcm.edu	37	10	101978563	101978563	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr10:101978563T>C	ENST00000370397.7	-	8	795	c.709A>G	c.(709-711)Aag>Gag	p.K237E		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)	p.K237Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TTTGGATCCTTCTTCTTAATC	0.323																																					Ovarian(159;52 1904 10536 35305 37148)												1	Substitution - Missense(1)	ovary(1)	10											117.0	110.0	112.0					10																	101978563		2203	4300	6503	101968553	SO:0001583	missense	1147			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.709A>G	10.37:g.101978563T>C	ENSP00000359424:p.Lys237Glu	Somatic		Capture	Illumina HiSeq	Phase_I	101968553	O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	ENST00000370397.7	37	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.509966	0.85282	.	.	ENSG00000213341	ENST00000370397	T	0.64618	-0.11	5.92	5.92	0.95590	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74473	0.3721	L	0.52364	1.645	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.76761	-0.2840	10	0.87932	D	0	-16.8521	14.3262	0.66523	0.0:0.0:0.0:1.0	.	237	O15111	IKKA_HUMAN	E	237	ENSP00000359424:K237E	ENSP00000359424:K237E	K	-	1	0	CHUK	101968553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.661000	0.83786	2.263000	0.75096	0.533000	0.62120	AAG		CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278	
ZDHHC11	79844	hgsc.bcm.edu	37	5	843723	843723	+	Missense_Mutation	SNP	C	C	A	rs3863148		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr5:843723C>A	ENST00000283441.8	-	4	1003	c.620G>T	c.(619-621)aGg>aTg	p.R207M	ZDHHC11_ENST00000511539.1_5'UTR|ZDHHC11_ENST00000503758.2_5'Flank|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.R207M	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	207						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			ACCTTCATACCTGGGGTCCGT	0.657																																																	0			5											56.0	47.0	50.0					5																	843723		2201	4290	6491	896723	SO:0001583	missense	79844			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.620G>T	5.37:g.843723C>A	ENSP00000283441:p.Arg207Met	Somatic		Capture	Illumina HiSeq	Phase_I	896723	Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	CCDS3857.1	601	0.2751831501831502	211	0.42886178861788615	83	0.2292817679558011	121	0.21153846153846154	186	0.24538258575197888	t	11.12	1.543781	0.27563	.	.	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.25085	1.82;1.82	3.98	-2.98	0.05513	.	16.107500	0.01230	U	0.008323	T	0.00012	0.0000	L	0.49126	1.545	0.80722	P	0.0	B	0.06786	0.001	B	0.14023	0.01	T	0.44143	-0.9347	9	0.36615	T	0.2	0.0249	3.3426	0.07124	0.353:0.2826:0.0:0.3644	rs3863148;rs4993147	207	Q9H8X9	ZDH11_HUMAN	M	207	ENSP00000397719:R207M;ENSP00000283441:R207M	ENSP00000283441:R207M	R	-	2	0	ZDHHC11	896723	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.765000	0.04730	-1.644000	0.01517	-0.858000	0.03015	AGG		ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786	
ZDHHC11	79844	hgsc.bcm.edu	37	5	843815	843815	+	Silent	SNP	C	C	T	rs71591190	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr5:843815C>T	ENST00000283441.8	-	4	911	c.528G>A	c.(526-528)tcG>tcA	p.S176S	ZDHHC11_ENST00000511539.1_5'UTR|ZDHHC11_ENST00000503758.2_5'Flank|ZDHHC11_ENST00000424784.2_Silent_p.S176S	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	176						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CAGCTGTGGCCGAGGCCACAG	0.667																																																	0			5											27.0	22.0	23.0					5																	843815		2199	4276	6475	896815	SO:0001819	synonymous_variant	79844			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.528G>A	5.37:g.843815C>T		Somatic		Capture	Illumina HiSeq	Phase_I	896815	Q6UWR9	Silent	SNP	ENST00000283441.8	37	CCDS3857.1																																																																																				ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786	
ADAMTS12	81792	hgsc.bcm.edu	37	5	33588803	33588803	+	Silent	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr5:33588803C>T	ENST00000504830.1	-	18	3101	c.2766G>A	c.(2764-2766)ccG>ccA	p.P922P	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.P837P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	922	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P922P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTCTGTGGGCGGGAGAGCCT	0.632										HNSCC(64;0.19)																																							1	Substitution - coding silent(1)	lung(1)	5											127.0	126.0	126.0					5																	33588803		2203	4300	6503	33624560	SO:0001819	synonymous_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2766G>A	5.37:g.33588803C>T		Somatic		Capture	Illumina HiSeq	Phase_I	33624560	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	CCDS34140.1																																																																																				ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
C6	729	hgsc.bcm.edu	37	5	41153985	41153985	+	Silent	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr5:41153985A>G	ENST00000263413.3	-	15	2481	c.2217T>C	c.(2215-2217)gcT>gcC	p.A739A	C6_ENST00000337836.5_Silent_p.A739A	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	739	C5b-binding domain.|CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTGATGGCCCAGCAACAACAA	0.473																																																	0			5											124.0	107.0	112.0					5																	41153985		2203	4300	6503	41189742	SO:0001819	synonymous_variant	5688			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2217T>C	5.37:g.41153985A>G		Somatic		Capture	Illumina HiSeq	Phase_I	41189742		Silent	SNP	ENST00000263413.3	37	CCDS3936.1																																																																																				C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
ARRDC3	57561	hgsc.bcm.edu	37	5	90678754	90678754	+	Silent	SNP	T	T	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr5:90678754T>C	ENST00000265138.3	-	1	422	c.156A>G	c.(154-156)agA>agG	p.R52R	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	52					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TCGCATGTCCTCTTGCATGAA	0.413																																																	0			5											134.0	136.0	135.0					5																	90678754		2203	4300	6503	90714510	SO:0001819	synonymous_variant	57561			AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.156A>G	5.37:g.90678754T>C		Somatic		Capture	Illumina HiSeq	Phase_I	90714510	A8K6T8|Q9P2H1	Silent	SNP	ENST00000265138.3	37	CCDS34202.1																																																																																				ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801	
APC	324	hgsc.bcm.edu	37	5	112151204	112151204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr5:112151204C>T	ENST00000457016.1	+	9	1227	c.847C>T	c.(847-849)Cga>Tga	p.R283*	APC_ENST00000257430.4_Nonsense_Mutation_p.R283*|APC_ENST00000508376.2_Nonsense_Mutation_p.R283*			P25054	APC_HUMAN	adenomatous polyposis coli	283	Leu-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.R283*(11)		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)		TTCAACTACACGAATGGACCA	0.383		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"""	11	Substitution - Nonsense(11)	large_intestine(11)	5	GRCh37	CM920030	APC	M							108.0	98.0	102.0					5																	112151204		2202	4300	6502	112179103	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.847C>T	5.37:g.112151204C>T	ENSP00000413133:p.Arg283*	Somatic		Capture	Illumina HiSeq	Phase_I	112179103	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	40	8.381748	0.98786	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.11	4.22	0.49857	.	0.134048	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.044	12.9775	0.58546	0.2942:0.7058:0.0:0.0	.	.	.	.	X	283;265;283;283;283	.	ENSP00000257430:R283X	R	+	1	2	APC	112179103	1.000000	0.71417	0.953000	0.39169	0.976000	0.68499	5.216000	0.65246	1.244000	0.43870	0.650000	0.86243	CGA		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112154723	112154723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr5:112154723C>T	ENST00000457016.1	+	10	1374	c.994C>T	c.(994-996)Cga>Tga	p.R332*	APC_ENST00000257430.4_Nonsense_Mutation_p.R332*|APC_ENST00000508376.2_Nonsense_Mutation_p.R332*			P25054	APC_HUMAN	adenomatous polyposis coli	332	Leu-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.R332*(5)		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)		TGATATGTCGCGAACTTTGCT	0.418		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"""	5	Substitution - Nonsense(5)	large_intestine(4)|endometrium(1)	5	GRCh37	CM980087	APC	M							193.0	168.0	176.0					5																	112154723		2202	4300	6502	112182622	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.994C>T	5.37:g.112154723C>T	ENSP00000413133:p.Arg332*	Somatic		Capture	Illumina HiSeq	Phase_I	112182622	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	38	6.980865	0.97979	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.73	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.226	13.9957	0.64397	0.3296:0.6704:0.0:0.0	.	.	.	.	X	332;314;332;332;332	.	ENSP00000257430:R332X	R	+	1	2	APC	112182622	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	4.029000	0.57253	1.388000	0.46506	0.650000	0.86243	CGA		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
LVRN	206338	hgsc.bcm.edu	37	5	115341638	115341638	+	Missense_Mutation	SNP	G	G	C	rs10078759	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr5:115341638G>C	ENST00000357872.4	+	13	2191	c.2067G>C	c.(2065-2067)ttG>ttC	p.L689F	AQPEP_ENST00000395528.2_Missense_Mutation_p.L206F	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		689			L -> F (in dbSNP:rs10078759). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.			integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GACTGCAGTTGATTGATGATG	0.348																																																	0			5						G	PHE/LEU	3518,884	742.0+/-411.3	1401,716,84	167.0	153.0	157.0		2067	3.0	0.7	5	dbSNP_119	157	7104,1494	747.4+/-407.3	2942,1220,137	yes	missense	AQPEP	NM_173800.4	22	4343,1936,221	CC,CG,GG		17.3761,20.0818,18.2923	probably-damaging	689/991	115341638	10622,2378	2201	4299	6500	115369537	SO:0001583	missense	0																														ENST00000357872.4:c.2067G>C	5.37:g.115341638G>C	ENSP00000350541:p.Leu689Phe	Somatic		Capture	Illumina HiSeq	Phase_I	115369537	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	1747	0.799908424908425	404	0.8211382113821138	292	0.8066298342541437	438	0.7657342657342657	613	0.8087071240105541	G	13.83	2.354623	0.41700	0.799182	0.826239	ENSG00000172901	ENST00000395528;ENST00000357872;ENST00000379578	T;T	0.08896	3.04;3.04	6.06	2.97	0.34412	.	0.377447	0.22608	N	0.057874	T	0.00012	0.0000	M	0.66506	2.035	0.58432	P	9.000000000036756E-6	B	0.33477	0.413	B	0.32583	0.148	T	0.02797	-1.1109	9	0.40728	T	0.16	.	7.8749	0.29589	0.3166:0.0:0.6834:0.0	rs10078759;rs52814426;rs56611672;rs57021800;rs10078759	689	Q6Q4G3	AMPQ_HUMAN	F	206;689;678	ENSP00000378899:L206F;ENSP00000350541:L689F	ENSP00000350541:L689F	L	+	3	2	AC010282.1	115369537	0.995000	0.38212	0.683000	0.30040	0.997000	0.91878	0.924000	0.28777	0.898000	0.36418	0.655000	0.94253	TTG		AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1		
FSTL4	23105	hgsc.bcm.edu	37	5	132939653	132939653	+	Silent	SNP	G	G	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr5:132939653G>A	ENST00000265342.7	-	2	271	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	8						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGAGATGCAGCCAAAAGCCT	0.507																																																	0			5											55.0	62.0	59.0					5																	132939653		2203	4300	6503	132967552	SO:0001819	synonymous_variant	23105			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.22C>T	5.37:g.132939653G>A		Somatic		Capture	Illumina HiSeq	Phase_I	132967552	Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	37	CCDS34238.1																																																																																				FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786	
PCDHA10	56139	hgsc.bcm.edu	37	5	140236950	140236950	+	Missense_Mutation	SNP	C	C	G	rs251362	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr5:140236950C>G	ENST00000307360.5	+	1	1317	c.1317C>G	c.(1315-1317)agC>agG	p.S439R	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S439R|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	439	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.		S -> R (in dbSNP:rs251362). {ECO:0000269|Ref.2}.		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACGGCCAGCGTGTCTGTGG	0.682													.|||	2354	0.470048	0.3245	0.4582	5008	,	,		17119	0.4355		0.5288	False		,,,				2504	0.6503																0			5						C	,ARG/SER,,,,,,,,,,,ARG/SER,ARG/SER	1439,2955		285,869,1043	97.0	93.0	94.0		,1317,,,,,,,,,,,1317,1317	3.1	1.0	5	dbSNP_79	94	4670,3874		1455,1760,1057	no	intron,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,missense	PCDHA9,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031859.1,NM_031860.1	,110,,,,,,,,,,,110,110	1740,2629,2100	GG,GC,CC		45.3418,32.7492,47.2175	,,,,,,,,,,,,,	,439/949,,,,,,,,,,,439/845,439/686	140236950	6109,6829	2197	4272	6469	140217134	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1317C>G	5.37:g.140236950C>G	ENSP00000304234:p.Ser439Arg	Somatic		Capture	Illumina HiSeq	Phase_I	140217134	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	1037	0.4748168498168498	183	0.3719512195121951	193	0.5331491712707183	261	0.4562937062937063	400	0.5277044854881267	C	10.30	1.312597	0.23908	0.327492	0.546582	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.51574	4.64;0.7	3.96	3.09	0.35607	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	L	0.41710	1.295	0.80722	P	0.0	B;B;B	0.28258	0.205;0.059;0.001	B;B;B	0.32090	0.14;0.128;0.024	T	0.45659	-0.9246	8	0.36615	T	0.2	.	1.6641	0.02798	0.1571:0.4772:0.1751:0.1907	rs251362;rs3733702;rs17844342;rs56831346	439;439;439	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	R	439	ENSP00000421030:S439R;ENSP00000304234:S439R	ENSP00000304234:S439R	S	+	3	2	PCDHA10	140217134	0.004000	0.15560	1.000000	0.80357	0.985000	0.73830	1.204000	0.32296	1.006000	0.39211	0.556000	0.70494	AGC		PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHGA5	56110	hgsc.bcm.edu	37	5	140744090	140744090	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr5:140744090C>T	ENST00000518069.1	+	1	193	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	65	Cadherin 1. {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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGAGTCCGCATCGTCTC	0.652																																																	0			5											51.0	62.0	58.0					5																	140744090		2201	4297	6498	140724274	SO:0001583	missense	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.193C>T	5.37:g.140744090C>T	ENSP00000429834:p.Arg65Cys	Somatic		Capture	Illumina HiSeq	Phase_I	140724274	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	15.25	2.778908	0.49891	.	.	ENSG00000253485	ENST00000518069	T	0.38887	1.11	5.38	5.38	0.77491	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.79678	0.4487	H	0.99800	4.79	0.40411	D	0.979741	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.87108	0.2183	9	0.87932	D	0	.	11.0653	0.47972	0.0:0.8812:0.0:0.1188	.	65;65	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	C	65	ENSP00000429834:R65C	ENSP00000429834:R65C	R	+	1	0	PCDHGA5	140724274	0.994000	0.37717	1.000000	0.80357	0.421000	0.31385	3.141000	0.50593	2.694000	0.91930	0.558000	0.71614	CGC		PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918	
GEMIN5	25929	hgsc.bcm.edu	37	5	154278135	154278135	+	Silent	SNP	C	C	T	rs148426811		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr5:154278135C>T	ENST00000285873.7	-	23	3285	c.3210G>A	c.(3208-3210)acG>acA	p.T1070T		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1070					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTCTGCAGCCGTTCTAAGTG	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		19316	0.0		0.001	False		,,,				2504	0.0																0			5						C		0,4406		0,0,2203	85.0	77.0	79.0		3210	-11.8	0.1	5	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GEMIN5	NM_015465.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1070/1509	154278135	1,13005	2203	4300	6503	154258328	SO:0001819	synonymous_variant	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.3210G>A	5.37:g.154278135C>T		Somatic		Capture	Illumina HiSeq	Phase_I	154258328	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	CCDS4330.1																																																																																				GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		
RNF145	153830	hgsc.bcm.edu	37	5	158588284	158588284	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr5:158588284A>G	ENST00000424310.2	-	10	1975	c.1616T>C	c.(1615-1617)aTc>aCc	p.I539T	RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000518802.1_Missense_Mutation_p.I569T|RNF145_ENST00000521606.2_Missense_Mutation_p.I556T|RNF145_ENST00000520638.1_Missense_Mutation_p.I553T|RNF145_ENST00000274542.2_Missense_Mutation_p.I567T|RNF145_ENST00000519865.1_Missense_Mutation_p.I539T	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	539						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGATAACAGATGGCACAAAT	0.383																																																	0			5											53.0	54.0	54.0					5																	158588284		2191	4262	6453	158520862	SO:0001583	missense	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1616T>C	5.37:g.158588284A>G	ENSP00000409064:p.Ile539Thr	Somatic		Capture	Illumina HiSeq	Phase_I	158520862	B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.482723	0.84747	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	6.07	6.07	0.98685	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.91680	0.7370	M	0.90650	3.135	0.80722	D	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	0.999;0.999;0.999;1.0;0.999	D	0.93129	0.6531	10	0.87932	D	0	-20.9594	16.6277	0.84984	1.0:0.0:0.0:0.0	.	556;553;569;539;567	B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;RN145_HUMAN;.	T	567;539;539;555;556;569;539;553	ENSP00000274542:I567T;ENSP00000430397:I539T;ENSP00000409064:I539T;ENSP00000430753:I555T;ENSP00000445115:I556T;ENSP00000430955:I569T;ENSP00000429071:I553T	ENSP00000274542:I567T	I	-	2	0	RNF145	158520862	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.210000	0.95106	2.330000	0.79161	0.528000	0.53228	ATC		RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726	
STK32B	55351	hgsc.bcm.edu	37	4	5053527	5053527	+	5'UTR	SNP	G	G	A			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr4:5053527G>A	ENST00000282908.5	+	0	359					NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CTCTGCGCGCGTCCCACATCC	0.736																																																	0			4											37.0	40.0	39.0					4																	5053527		692	1591	2283	5104428	SO:0001623	5_prime_UTR_variant	55351			AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.-64G>A	4.37:g.5053527G>A		Somatic		Capture	Illumina HiSeq	Phase_I	5104428		Splice_Site	SNP	ENST00000282908.5	37	CCDS3380.1																																																																																				STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401	
PPCS	79717	hgsc.bcm.edu	37	1	42922570	42922571	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr1:42922570_42922571insTT	ENST00000372561.3	+	1	341_342	c.334_335insTT	c.(334-336)cttfs	p.L112fs	ZMYND12_ENST00000433602.2_5'Flank|PPCS_ENST00000372562.1_Intron|ZMYND12_ENST00000372565.3_5'Flank|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372560.3_Frame_Shift_Ins_p.L112fs|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000372556.3_Intron	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	112					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGGCCCAGCCCTTTCGGGCTTG	0.653																																																	0			1																																								42695158	SO:0001589	frameshift_variant	79717			AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.335_336dupTT	1.37:g.42922571_42922572dupTT	ENSP00000361642:p.Leu112fs	Somatic		Capture	Illumina HiSeq	Phase_I	42695157	Q3KQT2|Q5VVM0	Frame_Shift_Ins	INS	ENST00000372561.3	37	CCDS41311.1																																																																																				PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664	
PRKRA	8575	hgsc.bcm.edu	37	2	179315735	179315736	+	Frame_Shift_Del	DEL	GC	GC	-	rs141354030|rs79769305	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	GC	GC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr2:179315735_179315736delGC	ENST00000325748.4	-	1	222_223	c.22_23delGC	c.(22-24)gccfs	p.A8fs	PRKRA_ENST00000432031.2_5'Flank|PRKRA_ENST00000470200.1_5'UTR|PRKRA_ENST00000438687.3_5'UTR|DFNB59_ENST00000375129.4_5'Flank|DFNB59_ENST00000409117.3_5'Flank|PRKRA_ENST00000487082.1_5'Flank	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	8	Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			CGGGGCCTCGGCGCGGTGCCTG	0.757														1193	0.238219	0.1649	0.3545	5008	,	,		12129	0.123		0.339	False		,,,				2504	0.2699				Melanoma(200;68 3001 23825 48764)												0			2								658,2174		225,208,983						-1.9	0.8		dbSNP_134	7	2206,4138		751,704,1717	no	frameshift	PRKRA	NM_003690.4		976,912,2700	A1A1,A1R,RR		34.773,23.2345,31.2119				2864,6312				179023982	SO:0001589	frameshift_variant	8575			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.22_23delGC	2.37:g.179315737_179315738delGC	ENSP00000318176:p.Ala8fs	Somatic		Capture	Illumina HiSeq	Phase_I	179023981	A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Frame_Shift_Del	DEL	ENST00000325748.4	37	CCDS2279.1																																																																																				PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690	
RBM44	375316	hgsc.bcm.edu	37	2	238725989	238725990	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr2:238725989_238725990insT	ENST00000409864.1	+	3	684_685	c.430_431insT	c.(430-432)gttfs	p.V144fs	RBM44_ENST00000316997.4_Frame_Shift_Ins_p.V144fs|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	143						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.N147fs*1(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AAAAGAGGAGGTTTTTTTTAAT	0.307																																																	2	Insertion - Frameshift(2)	large_intestine(2)	2																																								238390729	SO:0001589	frameshift_variant	375316			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.438dupT	2.37:g.238725997_238725997dupT	ENSP00000386727:p.Val144fs	Somatic		Capture	Illumina HiSeq	Phase_I	238390728	A0AUW3	Frame_Shift_Ins	INS	ENST00000409864.1	37	CCDS46554.1																																																																																				RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504	
APC	324	hgsc.bcm.edu	37	5	112175951	112175952	+	Frame_Shift_Ins	INS	-	-	A	rs587783031		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr5:112175951_112175952insA	ENST00000457016.1	+	16	5040_5041	c.4660_4661insA	c.(4660-4662)gaafs	p.E1554fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Ins_p.E1554fs|APC_ENST00000508376.2_Frame_Shift_Ins_p.E1554fs			P25054	APC_HUMAN	adenomatous polyposis coli	1554	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.T1556fs*3(42)|p.E1554fs*5(2)|p.E1554fs*3(1)|p.?(1)|p.T1556fs*9(1)|p.?fs(1)|p.K1192fs*3(1)|p.E1554*(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)		GAAAGAGGCAGAAAAAACTATT	0.342		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"""	50	Insertion - Frameshift(45)|Deletion - Frameshift(3)|Substitution - Nonsense(1)|Unknown(1)	large_intestine(45)|stomach(3)|soft_tissue(1)|skin(1)	5																																								112203851	SO:0001589	frameshift_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4666dupA	5.37:g.112175957_112175957dupA	ENSP00000413133:p.Glu1554fs	Somatic		Capture	Illumina HiSeq	Phase_I	112203850	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	ENST00000457016.1	37	CCDS4107.1																																																																																				APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
OR2B2	81697	hgsc.bcm.edu	37	6	27879916	27879917	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr6:27879916_27879917insC	ENST00000303324.2	-	1	257_258	c.181_182insG	c.(181-183)tttfs	p.F61fs		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GCTAAGAAAAAAGTACATAGGG	0.376																																																	0			6																																								27987896	SO:0001589	frameshift_variant	81697			Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.181_182insG	6.37:g.27879916_27879917insC	ENSP00000304419:p.Phe61fs	Somatic		Capture	Illumina HiSeq	Phase_I	27987895	B2RNH2|Q9GZL2|Q9Y299	Frame_Shift_Ins	INS	ENST00000303324.2	37	CCDS4641.1																																																																																				OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1		
RP1L1	94137	hgsc.bcm.edu	37	8	10467681	10467686	+	In_Frame_Del	DEL	TCCTTC	TCCTTC	-	rs386722181		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	TCCTTC	TCCTTC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr8:10467681_10467686delTCCTTC	ENST00000382483.3	-	4	4145_4150	c.3922_3927delGAAGGA	c.(3922-3927)gaaggadel	p.EG1308del		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1326	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ctccttctgttccttcttTAGTTTCC	0.485																																																	0			8								43,79,3686		3,0,37,3,73,1788						-0.4	0.0			135	362,29,7561		4,0,354,0,29,3589	no	codingComplex	RP1L1	NM_178857.5		7,0,391,3,102,5377	A1A1,A1A2,A1R,A2A2,A2R,RR		4.917,3.2038,4.3622				405,108,11247				10505096	SO:0001651	inframe_deletion	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3922_3927delGAAGGA	8.37:g.10467681_10467686delTCCTTC	ENSP00000371923:p.Glu1308_Gly1309del	Somatic		Capture	Illumina HiSeq	Phase_I	10505091	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	In_Frame_Del	DEL	ENST00000382483.3	37	CCDS43708.1																																																																																				RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
TRIM51	84767	hgsc.bcm.edu	37	11	55653610	55653610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr11:55653610delA	ENST00000449290.2	+	3	515	c.423delA	c.(421-423)ctafs	p.L141fs	TRIM51_ENST00000244891.3_5'UTR	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	141						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AGGAGCTCCTAAAAAAAATGC	0.403																																																	0			11								1,23,4240		0,0,1,10,3,2118	50.0	47.0	48.0				0.0	11		48	1,23,8230		0,0,1,8,7,4111	no	codingComplex	SPRYD5	NM_032681.3		0,0,2,18,10,6229	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2908,0.5629,0.3834			55653610	2,46,12470	692	1591	2283	55410186	SO:0001589	frameshift_variant	84767			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.423delA	11.37:g.55653610delA	ENSP00000395086:p.Leu141fs	Somatic		Capture	Illumina HiSeq	Phase_I	55410186	A6NMG2	Frame_Shift_Del	DEL	ENST00000449290.2	37																																																																																					TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681	
B3GNT6	192134	hgsc.bcm.edu	37	11	76751604	76751604	+	Frame_Shift_Del	DEL	T	T	-	rs11292200		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr11:76751604delT	ENST00000533140.1	+	2	1147	c.1009delT	c.(1009-1011)ttgfs	p.L337fs	B3GNT6_ENST00000421061.1_Frame_Shift_Del_p.L215fs|B3GNT6_ENST00000354301.5_Splice_Site_p.L336fs			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	356					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GGCGTGCAGCTTGCCTGGCGC	0.667													T|TT|T|insertion	5008	1.0	1.0	1.0	5008	,	,		14064	1.0		1.0	False		,,,				2504	1.0																0			11								4027,1		2013,1,0	2.0	2.0	2.0			2.0	1.0	11	dbSNP_120	11	7958,2		3978,2,0	no	frameshift	B3GNT6	NM_138706.3		5991,3,0	A1A1,A1R,RR		0.0251,0.0248,0.025			76751604	11985,3	1100	2039	3139	76429252	SO:0001589	frameshift_variant	192134			AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.1009delT	11.37:g.76751604delT	ENSP00000435352:p.Leu337fs	Somatic		Capture	Illumina HiSeq	Phase_I	76429252	Q4TTN0	Frame_Shift_Del	DEL	ENST00000533140.1	37	CCDS53681.1																																																																																				B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706	
DDHD1	80821	hgsc.bcm.edu	37	14	53619480	53619481	+	In_Frame_Ins	INS	-	-	GCCGCC	rs140904345|rs55671452|rs200797826	byFrequency	TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr14:53619480_53619481insGCCGCC	ENST00000323669.5	-	1	335_336	c.336_337insGGCGGC	c.(334-339)ggcagc>ggcGGCGGCagc	p.111_112insGG	DDHD1_ENST00000357758.3_In_Frame_Ins_p.111_112insGG|AL356020.1_ENST00000584587.1_RNA|DDHD1_ENST00000395606.1_In_Frame_Ins_p.111_112insGG|RP11-547D23.1_ENST00000554235.1_RNA	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	111					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GACAAGGAGCTGCCGCCGCCGC	0.703														3933	0.785343	0.4962	0.8718	5008	,	,		9770	0.9673		0.833	False		,,,				2504	0.8783																0			14																																								52689231	SO:0001652	inframe_insertion	80821			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.331_336dupGGCGGC	14.37:g.53619481_53619486dupGCCGCC	ENSP00000327104:p.Gly110_Gly111dup	Somatic		Capture	Illumina HiSeq	Phase_I	52689230	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	In_Frame_Ins	INS	ENST00000323669.5	37	CCDS53895.1																																																																																				DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1		
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	DEL	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	-			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chrUnknown:0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT								None (None upstream) : None (None downstream)																								0																																																	0			17																																								263631	SO:0001628	intergenic_variant	400566																															Unknown.37:g.0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT		Somatic		Capture	Illumina HiSeq	Phase_I	263602		Frame_Shift_Del	DEL		37																																																																																				0								
SOX9	6662	hgsc.bcm.edu	37	17	70119696	70119697	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr17:70119696_70119697insCC	ENST00000245479.2	+	3	1070_1071	c.698_699insCC	c.(697-702)ggcccafs	p.GP233fs		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	233					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CAATCCCAGGGCCCACCGACCC	0.644																																					Pancreas(42;83 1041 2320 35205 39456)												0			17																																								67631292	SO:0001589	frameshift_variant	6662			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.699_700dupCC	17.37:g.70119697_70119698dupCC	ENSP00000245479:p.Gly233fs	Somatic		Capture	Illumina HiSeq	Phase_I	67631291	Q53Y80	Frame_Shift_Ins	INS	ENST00000245479.2	37	CCDS11689.1																																																																																				SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346	
ZNF516	9658	hgsc.bcm.edu	37	18	74090958	74090958	+	Frame_Shift_Del	DEL	G	G	-	rs398079646|rs398033573|rs56087742		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr18:74090958delG	ENST00000443185.2	-	5	3428	c.3111delC	c.(3109-3111)cccfs	p.P1037fs	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1037					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGTGTAGGACGGGGGGGCGCC	0.652													GGGGGG|GGGGGGG|GGGGGG|insertion	5008	1.0	1.0	1.0	5008	,	,		13278	1.0		1.0	False		,,,				2504	1.0																0			18								3517,17		1755,7,5	7.0	7.0	7.0			-0.6	0.0	18	dbSNP_131	33	7701,27		3846,9,9	no	frameshift	ZNF516	NM_014643.3		5601,16,14	A1A1,A1R,RR		0.3494,0.481,0.3907			74090958	11218,44	1730	3829	5559	72219946	SO:0001589	frameshift_variant	9658			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.3111delC	18.37:g.74090958delG	ENSP00000394757:p.Pro1037fs	Somatic		Capture	Illumina HiSeq	Phase_I	72219946		Frame_Shift_Del	DEL	ENST00000443185.2	37																																																																																					ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643	
CDH26	60437	hgsc.bcm.edu	37	20	58587784	58587784	+	Intron	DEL	A	A	-			TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr20:58587784delA	ENST00000244047.5	+	15	2483				CDH26_ENST00000244049.3_Stop_Codon_Del|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000348616.4_Stop_Codon_Del|CDH26_ENST00000350849.6_Stop_Codon_Del			Q8IXH8	CAD26_HUMAN	cadherin 26						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.*833fs?(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTTCCTTCCTAAAAAAAAAAG	0.393																																																	1	Deletion - Frameshift(1)	ovary(1)	20							,	355,66,3841		7,1,340,0,65,1718	39.0	41.0	40.0		,	-1.5	0.0	20		43	31,134,8089		0,0,31,0,134,3962	no	codingComplex,codingComplex	CDH26	NM_177980.2,NM_021810.4	,	7,1,371,0,199,5680	A1A1,A1A2,A1R,A2A2,A2R,RR		1.999,9.878,4.682	,	,	58587784	386,200,11930	2203	4300	6503	58021179	SO:0001627	intron_variant	60437			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2172+5942A>-	20.37:g.58587784delA		Somatic		Capture	Illumina HiSeq	Phase_I	58021179	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Frame_Shift_Del	DEL	ENST00000244047.5	37																																																																																					CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980	
NEFH	4744	hgsc.bcm.edu	37	22	29885567	29885568	+	In_Frame_Ins	INS	-	-	AAGTCCCCTGAGAAGGCC	rs147489453|rs559153194|rs75808076|rs59279731		TCGA-DC-6681-01A-11D-1826-10	TCGA-DC-6681-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	821cef24-769d-4f2d-8006-819cda661112	ffc9adfb-e651-4424-a0a7-2ea6a0340f63	g.chr22:29885567_29885568insAAGTCCCCTGAGAAGGCC	ENST00000310624.6	+	4	1971_1972	c.1938_1939insAAGTCCCCTGAGAAGGCC	c.(1939-1941)aag>AAGTCCCCTGAGAAGGCCaag	p.647_647K>KSPEKAK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	653	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGAGGAAGCAAAGTCCCCTGA	0.569																																																	0			22								2816,1448		937,942,253						-5.3	0.0		dbSNP_134	77	5046,3206		1537,1972,617	no	coding	NEFH	NM_021076.3		2474,2914,870	A1A1,A1R,RR		38.8512,33.9587,37.1844				7862,4654				28215568	SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1939_1956dupAAGTCCCCTGAGAAGGCC	22.37:g.29885567_29885568insAAGTCCCCTGAGAAGGCC	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	28215567	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
