#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_Algorithm	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_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	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_dbSNPPopFreq	i_dbSNP_AF	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
PRDM16	63976	hgsc.bcm.edu	37	1	3342300	3342300	+	Missense_Mutation	SNP	A	A	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:3342300A>T	ENST00000270722.5	+	13	3144	c.3095A>T	c.(3094-3096)cAc>cTc	p.H1032L	PRDM16_ENST00000378398.3_Missense_Mutation_p.H1032L|PRDM16_ENST00000378391.2_Missense_Mutation_p.H1032L|PRDM16_ENST00000442529.2_Missense_Mutation_p.H1031L|PRDM16_ENST00000511072.1_Missense_Mutation_p.H1033L|PRDM16_ENST00000514189.1_Missense_Mutation_p.H1032L|PRDM16_ENST00000441472.2_Missense_Mutation_p.H1031L|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1032	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AAGCACGAGCACGAGAACGCA	0.667			T	EVI1	"""MDS, AML"""																																p.H1032L		Atlas-SNP	.		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	.	PRDM16	147	.	0			c.A3095T						.						60.0	69.0	66.0					1																	3342300		2112	4203	6315	SO:0001583	missense	63976	exon13			ACGAGCACGAGAA	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.3095A>T	chr1.hg19:g.3342300A>T	ENSP00000270722:p.His1032Leu	44.0	0.0		114.0	38.0	NM_022114	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	hg19	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	A	15.43	2.831560	0.50845	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47	4.02	4.02	0.46733	Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	U	0.000113	T	0.36690	0.0976	M	0.68317	2.08	0.54753	D	0.99998	D;D;P;P	0.55800	0.973;0.971;0.904;0.951	D;P;P;P	0.64042	0.921;0.908;0.674;0.812	T	0.19224	-1.0312	10	0.72032	D	0.01	.	12.9149	0.58200	1.0:0.0:0.0:0.0	.	1032;1032;1031;1031	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	L	1033;1032;1031;1031;1032;1032;1032;848;848;840	ENSP00000426975:H1033L;ENSP00000367651:H1032L;ENSP00000407968:H1031L;ENSP00000405253:H1031L;ENSP00000367643:H1032L;ENSP00000421400:H1032L;ENSP00000270722:H1032L;ENSP00000422504:H848L;ENSP00000425796:H840L	ENSP00000270722:H1032L	H	+	2	0	PRDM16	3332160	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	7.051000	0.76627	1.451000	0.47736	0.379000	0.24179	CAC	.	.		0.667	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114	
MASP2	10747	hgsc.bcm.edu	37	1	11107262	11107262	+	Start_Codon_SNP	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:11107262C>T	ENST00000400897.3	-	1	18	c.3G>A	c.(1-3)atG>atA	p.M1I	MASP2_ENST00000400898.3_Start_Codon_SNP_p.M1I	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	1					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CCACCTACCTCATGGTGTGCC	0.687																																					p.M1I	GBM(35;611 746 20780 22741 36496)	Atlas-SNP	.											.	MASP2	71	.	0			c.G3A						.						42.0	33.0	36.0					1																	11107262		2186	4280	6466	SO:0001582	initiator_codon_variant	10747	exon1			CTACCTCATGGTG	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.3G>A	chr1.hg19:g.11107262C>T	ENSP00000383690:p.Met1Ile	47.0	0.0		112.0	36.0	NM_139208	A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	hg19	CCDS123.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050751	0.75960	.	.	ENSG00000009724	ENST00000400897;ENST00000400898	D;T	0.83250	-1.7;1.09	3.64	3.64	0.41730	.	0.657423	0.15194	N	0.275363	D	0.89044	0.6603	.	.	.	0.80722	D	1	P;P	0.52577	0.954;0.924	D;P	0.63597	0.916;0.827	D	0.88996	0.3418	9	0.72032	D	0.01	.	11.1267	0.48322	0.0:1.0:0.0:0.0	.	1;1	O00187-2;O00187	.;MASP2_HUMAN	I	1	ENSP00000383690:M1I;ENSP00000383691:M1I	ENSP00000383690:M1I	M	-	3	0	MASP2	11029849	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	2.074000	0.41529	2.321000	0.78463	0.655000	0.94253	ATG	.	.		0.687	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610	Missense_Mutation
SRM	6723	hgsc.bcm.edu	37	1	11119332	11119332	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:11119332G>A	ENST00000376957.2	-	2	318	c.238C>T	c.(238-240)Cag>Tag	p.Q80*		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	80	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	ATCATCTCCTGGTAGGAGAAC	0.637																																					p.Q80X		Atlas-SNP	.											.	SRM	18	.	0			c.C238T						.						116.0	101.0	106.0					1																	11119332		2203	4300	6503	SO:0001587	stop_gained	6723	exon2			TCTCCTGGTAGGA	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.238C>T	chr1.hg19:g.11119332G>A	ENSP00000366156:p.Gln80*	98.0	0.0		337.0	95.0	NM_003132	B1AKP9|Q15511	Nonsense_Mutation	SNP	ENST00000376957.2	hg19	CCDS125.1	.	.	.	.	.	.	.	.	.	.	G	37	6.242829	0.97408	.	.	ENSG00000116649	ENST00000376957	.	.	.	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.289	0.66265	0.0:0.0:1.0:0.0	.	.	.	.	X	80	.	ENSP00000366156:Q80X	Q	-	1	0	SRM	11041919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.865000	0.92300	2.191000	0.70037	0.448000	0.29417	CAG	.	.		0.637	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132	
TMEM82	388595	hgsc.bcm.edu	37	1	16073479	16073479	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:16073479T>A	ENST00000375782.1	+	5	1013	c.875T>A	c.(874-876)cTt>cAt	p.L292H	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	292	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGCATCCTTGTCTCCCTA	0.672																																					p.L292H		Atlas-SNP	.											.	TMEM82	30	.	0			c.T875A						.						99.0	87.0	91.0					1																	16073479		2203	4300	6503	SO:0001583	missense	388595	exon5			GCATCCTTGTCTC		CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.875T>A	chr1.hg19:g.16073479T>A	ENSP00000364938:p.Leu292His	159.0	0.0		400.0	114.0	NM_001013641	B2RP27|Q5VVD4	Missense_Mutation	SNP	ENST00000375782.1	hg19	CCDS30608.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.608396	0.46527	.	.	ENSG00000162460	ENST00000375782	T	0.54279	0.58	4.8	3.67	0.42095	.	0.709482	0.13524	N	0.381498	T	0.58892	0.2154	L	0.38175	1.15	0.21627	N	0.999612	D	0.71674	0.998	D	0.63192	0.912	T	0.48559	-0.9025	10	0.72032	D	0.01	-4.3264	9.972	0.41761	0.0:0.0812:0.0:0.9188	.	292	A0PJX8	TMM82_HUMAN	H	292	ENSP00000364938:L292H	ENSP00000364938:L292H	L	+	2	0	TMEM82	15946066	0.439000	0.25610	0.002000	0.10522	0.114000	0.19823	4.145000	0.58065	0.862000	0.35528	0.379000	0.24179	CTT	.	.		0.672	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008471.2	NM_001013641	
FBXO42	54455	hgsc.bcm.edu	37	1	16577289	16577289	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:16577289C>A	ENST00000375592.3	-	10	2246	c.2030G>T	c.(2029-2031)aGc>aTc	p.S677I		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	677										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GGTATGCAGGCTGGTTTCAGG	0.458																																					p.S677I		Atlas-SNP	.											.	FBXO42	53	.	0			c.G2030T						.						186.0	178.0	181.0					1																	16577289		2203	4300	6503	SO:0001583	missense	54455	exon10			TGCAGGCTGGTTT	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.2030G>T	chr1.hg19:g.16577289C>A	ENSP00000364742:p.Ser677Ile	236.0	0.0		393.0	133.0	NM_018994	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	hg19	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103104	0.76983	.	.	ENSG00000037637	ENST00000375592	T	0.03745	3.82	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.07458	0.0188	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.60949	-0.7161	10	0.23891	T	0.37	-16.1142	18.7865	0.91957	0.0:1.0:0.0:0.0	.	677	Q6P3S6	FBX42_HUMAN	I	677	ENSP00000364742:S677I	ENSP00000364742:S677I	S	-	2	0	FBXO42	16449876	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.587000	0.82613	2.767000	0.95098	0.655000	0.94253	AGC	.	.		0.458	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1		
RCC1	1104	hgsc.bcm.edu	37	1	28863318	28863318	+	Missense_Mutation	SNP	G	G	A	rs547058163		TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:28863318G>A	ENST00000373833.6	+	12	1282	c.997G>A	c.(997-999)Gag>Aag	p.E333K	RCC1_ENST00000373831.3_Missense_Mutation_p.E364K|RCC1_ENST00000398958.2_Missense_Mutation_p.E333K|RCC1_ENST00000373832.1_Missense_Mutation_p.E333K			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	333					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGGTGCTGAGGAGAAGAG	0.607													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18363	0.0		0.0	False		,,,				2504	0.0				p.E364K		Atlas-SNP	.											.	RCC1	61	.	0			c.G1090A						.						126.0	121.0	123.0					1																	28863318		2203	4300	6503	SO:0001583	missense	1104	exon10			GGTGCTGAGGAGA	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.997G>A	chr1.hg19:g.28863318G>A	ENSP00000362939:p.Glu333Lys	97.0	0.0		264.0	149.0	NM_001048194	Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	hg19	CCDS323.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271718	0.59649	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831;ENST00000411533	T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37	5.8	5.8	0.92144	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.045916	0.85682	D	0.000000	T	0.79913	0.4528	L	0.35288	1.05	0.58432	D	0.999994	B;P;P	0.42871	0.007;0.792;0.592	B;P;B	0.50314	0.005;0.637;0.392	T	0.73965	-0.3816	10	0.15066	T	0.55	-27.0717	18.6252	0.91334	0.0:0.0:1.0:0.0	.	364;350;333	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	K	333;333;333;364;350	ENSP00000381931:E333K;ENSP00000362939:E333K;ENSP00000362938:E333K;ENSP00000362937:E364K;ENSP00000413644:E350K	ENSP00000362937:E364K	E	+	1	0	RCC1	28735905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.620000	0.67736	2.741000	0.93983	0.655000	0.94253	GAG	.	.		0.607	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269	
RBM8A	9939	hgsc.bcm.edu	37	1	145508934	145508934	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:145508934T>C	ENST00000330165.8	+	5	430	c.361T>C	c.(361-363)Tat>Cat	p.Y121H	RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.Y120H|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	121	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTAGTTGAATATGAAACATA	0.453																																					p.Y121H		Atlas-SNP	.											.	RBM8A	18	.	0			c.T361C						.						71.0	73.0	72.0					1																	145508934		2203	4300	6503	SO:0001583	missense	9939	exon5			GTTGAATATGAAA	AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"""RNA binding motif (RRM) containing"""	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.361T>C	chr1.hg19:g.145508934T>C	ENSP00000333001:p.Tyr121His	215.0	0.0		483.0	184.0	NM_005105	B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Missense_Mutation	SNP	ENST00000330165.8	hg19	CCDS916.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.091281	0.76756	.	.	ENSG00000131795	ENST00000330165;ENST00000369307	T;T	0.78924	-1.22;-1.22	4.17	4.17	0.49024	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	D	0.89986	0.6874	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.91837	0.5480	10	0.87932	D	0	-15.6879	9.5232	0.39149	0.0:0.0:0.0:1.0	.	120;121	Q9Y5S9-2;Q9Y5S9	.;RBM8A_HUMAN	H	121;120	ENSP00000333001:Y121H;ENSP00000358313:Y120H	ENSP00000333001:Y121H	Y	+	1	0	RBM8A	144220291	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.909000	0.75735	1.755000	0.51935	0.459000	0.35465	TAT	.	.		0.453	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038503.2	NM_005105	
IFI16	3428	hgsc.bcm.edu	37	1	159015214	159015214	+	Missense_Mutation	SNP	A	A	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:159015214A>T	ENST00000295809.7	+	8	1712	c.1457A>T	c.(1456-1458)cAg>cTg	p.Q486L	IFI16_ENST00000368131.4_Missense_Mutation_p.Q486L|IFI16_ENST00000368132.3_Intron|IFI16_ENST00000340979.6_Intron|IFI16_ENST00000448393.2_Intron|IFI16_ENST00000430894.2_Missense_Mutation_p.Q434L|IFI16_ENST00000359709.3_Missense_Mutation_p.Q430L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	486					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CACACTCCTCAGATGCCTCCA	0.478																																					p.Q430L		Atlas-SNP	.											.	IFI16	111	.	0			c.A1289T						.						124.0	120.0	121.0					1																	159015214		2202	4284	6486	SO:0001583	missense	3428	exon7			CTCCTCAGATGCC	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1457A>T	chr1.hg19:g.159015214A>T	ENSP00000295809:p.Gln486Leu	1314.0	0.0		1731.0	213.0	NM_001206567	B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	hg19		.	.	.	.	.	.	.	.	.	.	a	1.178	-0.638839	0.03557	.	.	ENSG00000163565	ENST00000295809;ENST00000368131;ENST00000430894	T;T;T	0.05717	3.42;3.4;3.5	2.63	-5.26	0.02772	.	.	.	.	.	T	0.00815	0.0027	L	0.27053	0.805	0.09310	N	1	B	0.34015	0.435	B	0.23852	0.049	T	0.23476	-1.0187	9	0.34782	T	0.22	.	3.9175	0.09230	0.1604:0.5035:0.2113:0.1248	.	434	E7EPR3	.	L	486;486;434	ENSP00000295809:Q486L;ENSP00000357113:Q486L;ENSP00000394935:Q434L	ENSP00000295809:Q486L	Q	+	2	0	IFI16	157281838	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.652000	0.00856	-3.111000	0.00241	-1.386000	0.01163	CAG	.	.		0.478	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531	
KISS1	3814	hgsc.bcm.edu	37	1	204159887	204159887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:204159887C>A	ENST00000367194.4	-	3	290	c.142G>T	c.(142-144)Gag>Tag	p.E48*		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	48					cytoskeleton organization (GO:0007010)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of synaptic transmission (GO:0050806)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		AGGCTCTGCTCCCCGGGGGCC	0.687																																					p.E48X		Atlas-SNP	.											.	KISS1	6	.	0			c.G142T						.						10.0	12.0	11.0					1																	204159887		1449	3362	4811	SO:0001587	stop_gained	3814	exon3			TCTGCTCCCCGGG	U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498		"""Endogenous ligands"""	6341	protein-coding gene	gene with protein product	"""prepro-kisspeptin"", ""kisspeptin"""	603286				9192814, 9806840	Standard	NM_002256		Approved		uc001har.3	Q15726	OTTHUMG00000036060	ENST00000367194.4:c.142G>T	chr1.hg19:g.204159887C>A	ENSP00000356162:p.Glu48*	26.0	0.0		101.0	50.0	NM_002256	A8K6N0|Q9HBP1	Nonsense_Mutation	SNP	ENST00000367194.4	hg19	CCDS41454.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276141	0.59649	.	.	ENSG00000170498	ENST00000367194	.	.	.	4.87	2.97	0.34412	.	0.660246	0.12998	N	0.421909	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-14.1018	12.0686	0.53603	0.0:0.6678:0.3322:0.0	.	.	.	.	X	48	.	ENSP00000356162:E48X	E	-	1	0	KISS1	202426510	0.594000	0.26849	0.005000	0.12908	0.003000	0.03518	1.169000	0.31871	0.557000	0.29117	-0.121000	0.15023	GAG	.	.		0.687	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087892.1	NM_002256	
LAMB3	3914	hgsc.bcm.edu	37	1	209789918	209789918	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:209789918G>A	ENST00000356082.4	-	22	3414	c.3280C>T	c.(3280-3282)Cag>Tag	p.Q1094*	LAMB3_ENST00000391911.1_Nonsense_Mutation_p.Q1094*|LAMB3_ENST00000367030.3_Nonsense_Mutation_p.Q1094*	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1094	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ATGGAACTCTGACCCAACCGG	0.488																																					p.Q1094X		Atlas-SNP	.											.	LAMB3	136	.	0			c.C3280T						.						157.0	149.0	151.0					1																	209789918		2203	4300	6503	SO:0001587	stop_gained	3914	exon22			AACTCTGACCCAA	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3280C>T	chr1.hg19:g.209789918G>A	ENSP00000348384:p.Gln1094*	166.0	0.0		631.0	221.0	NM_000228	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Nonsense_Mutation	SNP	ENST00000356082.4	hg19	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094827	0.94197	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	.	.	.	3.91	2.95	0.34219	.	1.007520	0.07981	U	0.985576	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4611	0.21956	0.0:0.2041:0.5857:0.2102	.	.	.	.	X	1094	.	ENSP00000348384:Q1094X	Q	-	1	0	LAMB3	207856541	0.028000	0.19301	0.007000	0.13788	0.185000	0.23345	2.092000	0.41700	0.810000	0.34279	0.449000	0.29647	CAG	.	.		0.488	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
GUK1	2987	hgsc.bcm.edu	37	1	228336430	228336430	+	3'UTR	SNP	C	C	T	rs373687915		TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:228336430C>T	ENST00000366718.1	+	0	1053				GJC2_ENST00000366714.2_5'Flank|GUK1_ENST00000366726.1_3'UTR|GUK1_ENST00000366721.1_3'UTR|GUK1_ENST00000366728.2_Silent_p.P201P|GUK1_ENST00000366722.1_Missense_Mutation_p.H235Y|GUK1_ENST00000312726.4_3'UTR|GUK1_ENST00000366716.1_3'UTR|GUK1_ENST00000366730.1_3'UTR|GUK1_ENST00000391865.3_3'UTR|GUK1_ENST00000366723.1_3'UTR|GUK1_ENST00000470040.1_3'UTR	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1						ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				ACCCCGGGCCCATACAGGACC	0.622																																					p.P201P		Atlas-SNP	.											.	GUK1	34	.	0			c.C603T						.						34.0	33.0	34.0					1																	228336430		2203	4300	6503	SO:0001624	3_prime_UTR_variant	2987	exon7			CGGGCCCATACAG	BC006249	CCDS1568.1, CCDS53481.1, CCDS55689.1	1q32-q41	2012-10-02			ENSG00000143774	ENSG00000143774	2.7.4.8		4693	protein-coding gene	gene with protein product		139270				8647247	Standard	NM_000858		Approved		uc021pkf.1	Q16774	OTTHUMG00000039503	ENST00000366718.1:c.*32C>T	chr1.hg19:g.228336430C>T		20.0	0.0		101.0	50.0	NM_001242840	B1ANH1	Silent	SNP	ENST00000366718.1	hg19	CCDS1568.1	.	.	.	.	.	.	.	.	.	.	c	10.77	1.442873	0.25987	.	.	ENSG00000143774	ENST00000366722	T	0.32753	1.44	2.51	1.47	0.22746	.	.	.	.	.	T	0.27663	0.0680	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.29671	-1.0004	6	0.87932	D	0	.	3.2312	0.06749	0.0:0.6251:0.0:0.3749	.	.	.	.	Y	235	ENSP00000355683:H235Y	ENSP00000355683:H235Y	H	+	1	0	GUK1	226403053	0.000000	0.05858	0.012000	0.15200	0.044000	0.14063	0.083000	0.14871	0.497000	0.27926	0.457000	0.33378	CAT	.	.		0.622	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000095944.1	NM_000858	
EXO1	9156	hgsc.bcm.edu	37	1	242045224	242045224	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:242045224G>A	ENST00000366548.3	+	14	2709	c.2116G>A	c.(2116-2118)Gat>Aat	p.D706N	EXO1_ENST00000348581.5_Missense_Mutation_p.D706N|EXO1_ENST00000518483.1_Missense_Mutation_p.D706N	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	706	Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CTAGGAATCTGATTGCAATAT	0.303								Editing and processing nucleases																													p.D706N		Atlas-SNP	.											.	EXO1	103	.	0			c.G2116A						.						53.0	52.0	53.0					1																	242045224		2203	4296	6499	SO:0001583	missense	9156	exon12			GAATCTGATTGCA	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2116G>A	chr1.hg19:g.242045224G>A	ENSP00000355506:p.Asp706Asn	467.0	1.0		210.0	77.0	NM_006027	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	hg19	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078429	0.36662	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.39229	1.22;1.22;1.09	4.77	4.77	0.60923	.	0.312666	0.36134	N	0.002774	T	0.51381	0.1671	M	0.71581	2.175	0.39135	D	0.961937	D;P;D	0.56521	0.976;0.921;0.976	P;P;P	0.51742	0.477;0.678;0.601	T	0.51576	-0.8688	10	0.28530	T	0.3	-37.7005	13.4964	0.61428	0.0:0.0:1.0:0.0	.	705;706;706	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	N	706	ENSP00000355506:D706N;ENSP00000311873:D706N;ENSP00000430251:D706N	ENSP00000311873:D706N	D	+	1	0	EXO1	240111847	1.000000	0.71417	0.998000	0.56505	0.498000	0.33706	4.550000	0.60733	2.636000	0.89361	0.655000	0.94253	GAT	.	.		0.303	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027	
ADAM17	6868	hgsc.bcm.edu	37	2	9667941	9667941	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr2:9667941C>T	ENST00000310823.3	-	5	775	c.593G>A	c.(592-594)gGg>gAg	p.G198E	ADAM17_ENST00000497134.1_Missense_Mutation_p.G198E	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	198					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GTCTACTAACCCTTTTGGGAG	0.343																																					p.G198E		Atlas-SNP	.											.	ADAM17	61	.	0			c.G593A						.						144.0	144.0	144.0					2																	9667941		2203	4299	6502	SO:0001583	missense	6868	exon5			ACTAACCCTTTTG	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.593G>A	chr2.hg19:g.9667941C>T	ENSP00000309968:p.Gly198Glu	155.0	0.0		92.0	28.0	NM_003183	O60226	Missense_Mutation	SNP	ENST00000310823.3	hg19	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	7.292	0.611305	0.14066	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.63096	2.12;-0.02	5.48	3.68	0.42216	.	0.596963	0.18368	N	0.143352	T	0.56848	0.2013	L	0.31664	0.95	0.38154	D	0.938826	D;B;D;B	0.62365	0.991;0.0;0.991;0.0	P;B;P;B	0.55965	0.788;0.001;0.788;0.001	T	0.55302	-0.8162	10	0.02654	T	1	.	12.0942	0.53744	0.0:0.8601:0.0:0.1399	.	198;198;198;198	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	E	198	ENSP00000309968:G198E;ENSP00000418728:G198E	ENSP00000309968:G198E	G	-	2	0	ADAM17	9585392	0.991000	0.36638	0.065000	0.19835	0.187000	0.23431	2.793000	0.47845	0.786000	0.33708	-0.373000	0.07131	GGG	.	.		0.343	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1		
TRMT61B	55006	hgsc.bcm.edu	37	2	29092901	29092901	+	Silent	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr2:29092901A>G	ENST00000306108.5	-	1	266	c.243T>C	c.(241-243)tgT>tgC	p.C81C		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	81					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GTGACGAAAGACATCCAGTCC	0.602																																					p.C81C		Atlas-SNP	.											.	TRMT61B	28	.	0			c.T243C						.						87.0	87.0	87.0					2																	29092901		2203	4300	6503	SO:0001819	synonymous_variant	55006	exon1			CGAAAGACATCCA	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.243T>C	chr2.hg19:g.29092901A>G		86.0	0.0		311.0	152.0	NM_017910	Q9H0Q9|Q9NWS7	Silent	SNP	ENST00000306108.5	hg19	CCDS1768.1																																																																																			.	.		0.602	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910	
LRP1B	53353	hgsc.bcm.edu	37	2	141250227	141250227	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr2:141250227C>T	ENST00000389484.3	-	57	10041	c.9070G>A	c.(9070-9072)Gag>Aag	p.E3024K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3024					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCTTATCTCATGATGATCA	0.343										TSP Lung(27;0.18)																											p.E3024K	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											.	LRP1B	1315	.	0			c.G9070A						.						206.0	182.0	190.0					2																	141250227		2203	4300	6503	SO:0001583	missense	53353	exon57			TTATCTCATGATG	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9070G>A	chr2.hg19:g.141250227C>T	ENSP00000374135:p.Glu3024Lys	113.0	0.0		59.0	15.0	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602309	0.66445	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91180	-2.8	5.11	5.11	0.69529	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.91126	0.7206	L	0.55103	1.725	0.51233	D	0.999912	D	0.61697	0.99	P	0.54759	0.76	D	0.88043	0.2782	10	0.06099	T	0.92	.	18.5004	0.90879	0.0:1.0:0.0:0.0	.	3024	Q9NZR2	LRP1B_HUMAN	K	3024;2962	ENSP00000374135:E3024K	ENSP00000374135:E3024K	E	-	1	0	LRP1B	140966697	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.674000	0.61612	2.373000	0.80994	0.460000	0.39030	GAG	.	.		0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
FAM124B	79843	hgsc.bcm.edu	37	2	225266346	225266346	+	Missense_Mutation	SNP	C	C	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr2:225266346C>G	ENST00000409685.3	-	1	405	c.140G>C	c.(139-141)cGg>cCg	p.R47P	FAM124B_ENST00000243806.2_Missense_Mutation_p.R47P|FAM124B_ENST00000389874.3_Missense_Mutation_p.R47P	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	47										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AGGACTGGCCCGTTCAGACAC	0.572																																					p.R47P		Atlas-SNP	.											FAM124B_ENST00000409685,NS,carcinoma,0,2	FAM124B	71	.	0			c.G140C						.						47.0	49.0	49.0					2																	225266346		2203	4300	6503	SO:0001583	missense	79843	exon1			CTGGCCCGTTCAG	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.140G>C	chr2.hg19:g.225266346C>G	ENSP00000386895:p.Arg47Pro	59.0	0.0		65.0	53.0	NM_024785	A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	hg19	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695087	0.68386	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.55052	0.54;0.54;0.54	5.81	5.81	0.92471	.	0.052994	0.64402	D	0.000001	T	0.76637	0.4015	M	0.83603	2.65	0.58432	D	0.999998	D;D	0.89917	0.986;1.0	D;D	0.79784	0.927;0.993	T	0.78398	-0.2219	10	0.66056	D	0.02	-33.1611	20.0628	0.97684	0.0:1.0:0.0:0.0	.	47;47	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	P	47	ENSP00000374524:R47P;ENSP00000386895:R47P;ENSP00000243806:R47P	ENSP00000243806:R47P	R	-	2	0	FAM124B	224974590	0.968000	0.33430	0.386000	0.26170	0.075000	0.17131	7.294000	0.78760	2.745000	0.94114	0.655000	0.94253	CGG	.	.		0.572	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785	
GLB1	2720	hgsc.bcm.edu	37	3	33106973	33106973	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr3:33106973C>T	ENST00000307377.8	-	3	382	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	GLB1_ENST00000399402.3_Silent_p.G148G|GLB1_ENST00000445488.2_Silent_p.G226G|GLB1_ENST00000307363.5_Silent_p.G178G	NM_001135602.1	NP_001129074	P16278	BGAL_HUMAN	galactosidase, beta 1	0					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TTATAACTGGCCCTCCATTCT	0.468																																					p.A108T		Atlas-SNP	.											.	GLB1	51	.	0			c.G322A						.						57.0	63.0	61.0					3																	33106973		1941	4117	6058	SO:0001583	missense	2720	exon3			AACTGGCCCTCCA	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000307377.8:c.322G>A	chr3.hg19:g.33106973C>T	ENSP00000305920:p.Ala108Thr	314.0	0.0		428.0	230.0	NM_001135602	B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000307377.8	hg19	CCDS46785.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500002	0.44455	.	.	ENSG00000170266	ENST00000307377	D	0.97924	-4.61	6.01	-1.38	0.09027	.	.	.	.	.	D	0.93419	0.7901	.	.	.	0.80722	D	1	B	0.21071	0.051	B	0.19946	0.027	T	0.82786	-0.0285	8	0.54805	T	0.06	-19.1601	1.3747	0.02218	0.1315:0.2644:0.2826:0.3215	.	108	E7EQ29	.	T	108	ENSP00000305920:A108T	ENSP00000305920:A108T	A	-	1	0	GLB1	33081977	0.003000	0.15002	0.825000	0.32803	0.980000	0.70556	-1.147000	0.03188	-0.611000	0.05709	0.650000	0.86243	GCC	.	.		0.468	GLB1-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341571.1	NM_000404	
SLC22A14	9389	hgsc.bcm.edu	37	3	38347844	38347844	+	Silent	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr3:38347844C>T	ENST00000273173.4	+	1	418	c.327C>T	c.(325-327)caC>caT	p.H109H	RNU6-235P_ENST00000362644.1_RNA|SLC22A14_ENST00000448498.1_Silent_p.H109H	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	109					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TGGGCCCCCACCTGTCCAAAG	0.532																																					p.H109H		Atlas-SNP	.											.	SLC22A14	64	.	0			c.C327T						.						108.0	100.0	103.0					3																	38347844		2203	4300	6503	SO:0001819	synonymous_variant	9389	exon1			CCCCCACCTGTCC	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.327C>T	chr3.hg19:g.38347844C>T		115.0	0.0		273.0	20.0	NM_004803	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Silent	SNP	ENST00000273173.4	hg19	CCDS2677.1																																																																																			.	.		0.532	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803	
DENND6A	201627	hgsc.bcm.edu	37	3	57678508	57678509	+	Splice_Site	DNP	CC	CC	AA			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr3:57678508_57678509CC>AA	ENST00000311128.5	-	1	307_308	c.237_238GG>TT	c.(235-240)gaGGta>gaTTta	p.79_80EV>DL	RP11-755B10.3_ENST00000465933.1_lincRNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	79					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										CCGGGCCTCACCTCCACGGCCT	0.752																																					.|p.E79D		Atlas-SNP	.											.	.	.	.	0			c.237+1G>T|c.G237T						.																																			SO:0001630	splice_region_variant	201627	exon2|exon1			GCCTCACCTCCAC|CCTCACCTCCACG	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.237_238delinsAA	chr3.hg19:g.57678508_57678509delinsAA		16.0|17.0	0.0		48.0|52.0	29.0|31.0	NM_152678	Q7Z5T4|Q8N235|Q8TEG8	Splice_Site|Missense_Mutation	SNP	ENST00000311128.5	hg19	CCDS33773.1																																																																																			.	.		0.752	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678	Missense_Mutation
KY	339855	hgsc.bcm.edu	37	3	134369796	134369796	+	Silent	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr3:134369796G>A	ENST00000423778.2	-	1	68	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	KY_ENST00000508956.1_Silent_p.L3L|KY_ENST00000503669.1_Silent_p.L3L	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	3					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TCCTTCTTCAGCTCCATGATG	0.652																																					p.L3L		Atlas-SNP	.											.	KY	92	.	0			c.C7T						.						56.0	62.0	60.0					3																	134369796		2111	4225	6336	SO:0001819	synonymous_variant	339855	exon1			TCTTCAGCTCCAT	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.7C>T	chr3.hg19:g.134369796G>A		138.0	0.0		325.0	85.0	NM_178554	B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	hg19	CCDS46920.1																																																																																			.	.		0.652	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554	
PLS1	5357	hgsc.bcm.edu	37	3	142405170	142405170	+	Missense_Mutation	SNP	A	A	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr3:142405170A>T	ENST00000337777.3	+	9	1146	c.933A>T	c.(931-933)aaA>aaT	p.K311N	PLS1_ENST00000497002.1_Missense_Mutation_p.K311N|PLS1_ENST00000457734.2_Missense_Mutation_p.K311N	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	311	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TTGCCCCTAAAGGTGGGGAAG	0.343																																					p.K311N		Atlas-SNP	.											.	PLS1	71	.	0			c.A933T						.						133.0	130.0	131.0					3																	142405170		2203	4300	6503	SO:0001583	missense	5357	exon9			CCCTAAAGGTGGG	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.933A>T	chr3.hg19:g.142405170A>T	ENSP00000336831:p.Lys311Asn	87.0	0.0		116.0	32.0	NM_001172312	A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	hg19	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.987374	0.53934	.	.	ENSG00000120756	ENST00000457734;ENST00000476044;ENST00000337777;ENST00000497002	D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65	5.36	2.96	0.34315	Calponin homology domain (5);	0.284737	0.43919	D	0.000501	D	0.89660	0.6779	L	0.55103	1.725	0.54753	D	0.999981	P	0.37997	0.614	B	0.30782	0.12	D	0.84497	0.0614	10	0.37606	T	0.19	-24.6923	7.8338	0.29358	0.8282:0.0:0.1718:0.0	.	311	Q14651	PLSI_HUMAN	N	311;232;311;311	ENSP00000387890:K311N;ENSP00000417481:K232N;ENSP00000336831:K311N;ENSP00000418700:K311N	ENSP00000336831:K311N	K	+	3	2	PLS1	143887860	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.565000	0.53798	0.464000	0.27142	0.533000	0.62120	AAA	.	.		0.343	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670	
KCNAB1	7881	hgsc.bcm.edu	37	3	156009791	156009791	+	Intron	SNP	T	T	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr3:156009791T>A	ENST00000490337.1	+	2	339				KCNAB1_ENST00000302490.8_Missense_Mutation_p.V32E|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389634.5_Missense_Mutation_p.V32E|KCNAB1_ENST00000389636.5_Intron	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GCCCCCAATGTGGTGAACGCA	0.572																																					p.V32E		Atlas-SNP	.											.	KCNAB1	176	.	0			c.T95A						.						68.0	64.0	65.0					3																	156009791		2203	4300	6503	SO:0001627	intron_variant	7881	exon1			CCAATGTGGTGAA	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.276-129614T>A	chr3.hg19:g.156009791T>A		141.0	0.0		313.0	27.0	NM_172159	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	hg19	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.915197	0.52546	.	.	ENSG00000169282	ENST00000302490;ENST00000389634	T;T	0.09163	3.34;3.01	4.89	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.06188	0.0160	N	0.22421	0.69	0.58432	D	0.999998	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.26121	-1.0112	10	0.09084	T	0.74	.	8.2737	0.31860	0.0:0.1663:0.0:0.8337	.	32;32	F8W6W4;B3KPZ4	.;.	E	32	ENSP00000305858:V32E;ENSP00000374285:V32E	ENSP00000305858:V32E	V	+	2	0	KCNAB1	157492485	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.019000	0.70818	0.722000	0.32252	0.377000	0.23210	GTG	.	.		0.572	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471	
TLR1	7096	hgsc.bcm.edu	37	4	38799406	38799406	+	Silent	SNP	C	C	A	rs375416156		TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr4:38799406C>A	ENST00000502213.2	-	3	1276	c.1047G>T	c.(1045-1047)ccG>ccT	p.P349P	TLR1_ENST00000308979.2_Silent_p.P349P			Q15399	TLR1_HUMAN	toll-like receptor 1	349					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AATGCAGGAACGGGCTAATTT	0.363																																					p.P349P	GBM(5;216 373 40795 46382)	Atlas-SNP	.											TLR1,right_upper_lobe,carcinoma,0,1	TLR1	70	.	0			c.G1047T						.						57.0	59.0	58.0					4																	38799406		2203	4300	6503	SO:0001819	synonymous_variant	7096	exon4			CAGGAACGGGCTA	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1047G>T	chr4.hg19:g.38799406C>A		84.0	0.0		79.0	16.0	NM_003263	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	ENST00000502213.2	hg19	CCDS33973.1																																																																																			.	.		0.363	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3		
YIPF7	285525	hgsc.bcm.edu	37	4	44631480	44631480	+	Silent	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr4:44631480A>G	ENST00000332990.5	-	4	454	c.438T>C	c.(436-438)aaT>aaC	p.N146N	YIPF7_ENST00000415895.4_Silent_p.N122N	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	146						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GGTCCGTTTCATTCATAATGC	0.423																																					p.N146N		Atlas-SNP	.											.	YIPF7	33	.	0			c.T438C						.						83.0	90.0	88.0					4																	44631480		1904	4115	6019	SO:0001819	synonymous_variant	285525	exon4			CGTTTCATTCATA	AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"""Yip1 domain family"""	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.438T>C	chr4.hg19:g.44631480A>G		158.0	0.0		104.0	58.0	NM_182592	Q3SY21|Q3SY22	Silent	SNP	ENST00000332990.5	hg19	CCDS54766.1	.	.	.	.	.	.	.	.	.	.	A	7.318	0.616431	0.14129	.	.	ENSG00000177752	ENST00000415895	.	.	.	5.31	0.122	0.14702	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.4527	5.1453	0.14981	0.5627:0.0:0.3108:0.1265	.	.	.	.	R	123	.	.	X	-	1	0	YIPF7	44326237	0.869000	0.29996	0.998000	0.56505	0.826000	0.46750	0.083000	0.14871	-0.097000	0.12307	-0.425000	0.05940	TGA	.	.		0.423	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_182592	
GABRA4	2557	hgsc.bcm.edu	37	4	46930408	46930408	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr4:46930408G>T	ENST00000264318.3	-	9	2481	c.1499C>A	c.(1498-1500)tCa>tAa	p.S500*		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	500					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGGAGTAGCTGACAACTTCCC	0.468																																					p.S500X	Ovarian(6;283 369 8234 12290 33402)	Atlas-SNP	.											.	GABRA4	129	.	0			c.C1499A						.						166.0	155.0	158.0					4																	46930408		2203	4300	6503	SO:0001587	stop_gained	2557	exon9			GTAGCTGACAACT		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1499C>A	chr4.hg19:g.46930408G>T	ENSP00000264318:p.Ser500*	196.0	1.0		99.0	63.0	NM_000809	Q8IYR7	Nonsense_Mutation	SNP	ENST00000264318.3	hg19	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	42	9.806889	0.99268	.	.	ENSG00000109158	ENST00000264318	.	.	.	5.82	5.82	0.92795	.	1.208420	0.05585	N	0.573544	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	17.2702	0.87099	0.0:0.0:1.0:0.0	.	.	.	.	X	500	.	ENSP00000264318:S500X	S	-	2	0	GABRA4	46625165	1.000000	0.71417	0.016000	0.15963	0.002000	0.02628	5.713000	0.68415	2.765000	0.95021	0.650000	0.86243	TCA	.	.		0.468	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1		
KIT	3815	hgsc.bcm.edu	37	4	55599301	55599301	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr4:55599301T>A	ENST00000288135.5	+	17	2524	c.2427T>A	c.(2425-2427)tgT>tgA	p.C809*		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	809	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAAGATTTGTGATTTTGGTC	0.388		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.C809X		Atlas-SNP	.	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	.	KIT	7396	.	0			c.T2427A						.						131.0	133.0	132.0					4																	55599301		2203	4300	6503	SO:0001587	stop_gained	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	GATTTGTGATTTT	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2427T>A	chr4.hg19:g.55599301T>A	ENSP00000288135:p.Cys809*	174.0	0.0		82.0	17.0	NM_000222	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Nonsense_Mutation	SNP	ENST00000288135.5	hg19	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	38	7.059608	0.98036	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	.	.	.	5.62	-2.43	0.06522	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0215	0.47720	0.0:0.4074:0.0:0.5926	.	.	.	.	X	809;805	.	ENSP00000288135:C809X	C	+	3	2	KIT	55294058	1.000000	0.71417	0.991000	0.47740	0.967000	0.64934	1.047000	0.30367	-0.392000	0.07751	-0.361000	0.07541	TGT	.	.		0.388	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KIAA1109	84162	hgsc.bcm.edu	37	4	123268886	123268886	+	Missense_Mutation	SNP	G	G	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr4:123268886G>C	ENST00000264501.4	+	76	13454	c.13081G>C	c.(13081-13083)Gct>Cct	p.A4361P	KIAA1109_ENST00000388738.3_Missense_Mutation_p.A4361P			Q2LD37	K1109_HUMAN	KIAA1109	4361					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAATCCCCAGCTTCCATAAG	0.448																																					p.A4361P		Atlas-SNP	.											.	KIAA1109	424	.	0			c.G13081C						.						122.0	122.0	122.0					4																	123268886		2020	4169	6189	SO:0001583	missense	84162	exon74			TCCCCAGCTTCCA	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13081G>C	chr4.hg19:g.123268886G>C	ENSP00000264501:p.Ala4361Pro	138.0	0.0		60.0	17.0	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	hg19	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.215852|5.215852	0.95104|0.95104	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707|ENST00000306802	T;T;T|.	0.33654|.	2.39;2.39;1.4|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58119|0.58119	0.2100|0.2100	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.85130|.	0.997;0.996|.	T|T	0.48210|0.48210	-0.9055|-0.9055	10|5	0.33141|.	T|.	0.24|.	.|.	20.8598|20.8598	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4360;4361|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	P|H	4361;4361;1030|736	ENSP00000264501:A4361P;ENSP00000373390:A4361P;ENSP00000410874:A1030P|.	ENSP00000264501:A4361P|.	A|Q	+|+	1|3	0|2	KIAA1109|KIAA1109	123488336|123488336	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.211000|7.211000	0.77933|0.77933	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCT|CAG	.	.		0.448	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
FAM198B	51313	hgsc.bcm.edu	37	4	159048703	159048703	+	Silent	SNP	A	A	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr4:159048703A>T	ENST00000296530.8	-	5	2037	c.1416T>A	c.(1414-1416)tcT>tcA	p.S472S	FAM198B_ENST00000393807.5_Silent_p.S480S|FAM198B_ENST00000585682.1_Silent_p.S472S	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	472						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CAAGAAACAGAGACTGAAGAA	0.363																																					p.S480S		Atlas-SNP	.											.	FAM198B	134	.	0			c.T1440A						.						95.0	96.0	96.0					4																	159048703		2203	4300	6503	SO:0001819	synonymous_variant	51313	exon6			AAACAGAGACTGA		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.1416T>A	chr4.hg19:g.159048703A>T		134.0	0.0		76.0	64.0	NM_001031700	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	hg19	CCDS3798.1																																																																																			.	.		0.363	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613	
HAND2	9464	hgsc.bcm.edu	37	4	174450187	174450187	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr4:174450187G>T	ENST00000359562.4	-	1	1193	c.254C>A	c.(253-255)cCg>cAg	p.P85Q	HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000502334.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	85					adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|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 regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		cccggcgcccggcggcacccc	0.751																																					p.P85Q		Atlas-SNP	.											.	HAND2	25	.	0			c.C254A						.						5.0	6.0	6.0					4																	174450187		1696	3627	5323	SO:0001583	missense	9464	exon1			GCGCCCGGCGGCA	AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.254C>A	chr4.hg19:g.174450187G>T	ENSP00000352565:p.Pro85Gln	7.0	0.0		22.0	22.0	NM_021973	B6ECG9|O95300|O95301|P97833|Q494T1	Missense_Mutation	SNP	ENST00000359562.4	hg19	CCDS3819.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986756	0.35036	.	.	ENSG00000164107	ENST00000359562;ENST00000535864	D	0.96856	-4.15	3.89	3.89	0.44902	.	0.197781	0.43747	D	0.000540	D	0.93602	0.7957	N	0.08118	0	0.42338	D	0.992326	D;P	0.71674	0.998;0.938	D;P	0.65010	0.931;0.535	D	0.90729	0.4641	10	0.13470	T	0.59	-13.708	12.475	0.55807	0.0:0.1699:0.8301:0.0	.	85;85	B6ECG9;P61296	.;HAND2_HUMAN	Q	85;33	ENSP00000352565:P85Q	ENSP00000352565:P85Q	P	-	2	0	HAND2	174686762	1.000000	0.71417	0.996000	0.52242	0.810000	0.45777	7.307000	0.78920	2.002000	0.58637	0.462000	0.41574	CCG	.	.		0.751	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3		
ZDHHC11	79844	hgsc.bcm.edu	37	5	837587	837587	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr5:837587T>A	ENST00000283441.8	-	6	1176	c.793A>T	c.(793-795)Aag>Tag	p.K265*	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Nonsense_Mutation_p.K265*	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	265						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)			GTGGTCATCTTCTTGGCCTCT	0.502																																					p.K265X		Atlas-SNP	.											.	ZDHHC11	97	.	0			c.A793T						.						141.0	156.0	151.0					5																	837587		2203	4300	6503	SO:0001587	stop_gained	79844	exon6			TCATCTTCTTGGC	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.793A>T	chr5.hg19:g.837587T>A	ENSP00000283441:p.Lys265*	491.0	0.0		1986.0	262.0	NM_024786	Q6UWR9	Nonsense_Mutation	SNP	ENST00000283441.8	hg19	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	t	22.4	4.283359	0.80803	.	.	ENSG00000188818	ENST00000424784;ENST00000283441;ENST00000511193	.	.	.	1.51	1.51	0.23008	.	5.581290	0.00993	U	0.003555	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-8.4861	5.2664	0.15601	0.0:0.0:0.0:1.0	.	.	.	.	X	265;265;40	.	ENSP00000283441:K265X	K	-	1	0	ZDHHC11	890587	0.001000	0.12720	0.015000	0.15790	0.028000	0.11728	0.036000	0.13819	0.979000	0.38497	0.315000	0.21342	AAG	.	.		0.502	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786	
C5orf42	65250	hgsc.bcm.edu	37	5	37186475	37186475	+	Missense_Mutation	SNP	C	C	A	rs373443151		TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr5:37186475C>A	ENST00000508244.1	-	23	4195	c.4102G>T	c.(4102-4104)Gca>Tca	p.A1368S	C5orf42_ENST00000425232.2_Missense_Mutation_p.A1368S|C5orf42_ENST00000274258.7_Missense_Mutation_p.A249S			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1368						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TAGGGAAATGCTTTCACGAAA	0.328																																					p.A1368S		Atlas-SNP	.											.	C5orf42	422	.	0			c.G4102T						.						96.0	97.0	97.0					5																	37186475		2203	4300	6503	SO:0001583	missense	65250	exon24			GAAATGCTTTCAC		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4102G>T	chr5.hg19:g.37186475C>A	ENSP00000421690:p.Ala1368Ser	217.0	0.0		567.0	136.0	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	hg19	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	32	5.112367	0.94339	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.31769	1.56;1.56;1.48;1.51	5.31	5.31	0.75309	.	0.236801	0.28671	N	0.014530	T	0.44095	0.1277	N	0.24115	0.695	0.41303	D	0.987056	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.37478	-0.9704	10	0.45353	T	0.12	.	18.9261	0.92546	0.0:1.0:0.0:0.0	.	1368;249	E9PH94;Q9H799	.;CE042_HUMAN	S	1368;1368;249;416;249	ENSP00000421690:A1368S;ENSP00000389014:A1368S;ENSP00000274258:A249S;ENSP00000424223:A416S	ENSP00000274258:A249S	A	-	1	0	C5orf42	37222232	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.738000	0.68613	2.624000	0.88883	0.655000	0.94253	GCA	.	.		0.328	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
ERAP2	64167	hgsc.bcm.edu	37	5	96219543	96219543	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr5:96219543T>C	ENST00000437043.3	+	3	1334	c.623T>C	c.(622-624)tTc>tCc	p.F208S	ERAP2_ENST00000379904.4_Missense_Mutation_p.F208S|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Missense_Mutation_p.F208S	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	208					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CGCATGGCTTTCCCTTGCTTT	0.443																																					p.F208S		Atlas-SNP	.											.	ERAP2	77	.	0			c.T623C						.						93.0	86.0	89.0					5																	96219543		2203	4300	6503	SO:0001583	missense	64167	exon3			TGGCTTTCCCTTG	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.623T>C	chr5.hg19:g.96219543T>C	ENSP00000400376:p.Phe208Ser	250.0	0.0		175.0	149.0	NM_001130140	Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	hg19	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.532548	0.85812	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309	T;T;T;T;T	0.08370	3.65;3.65;3.65;3.1;3.65	5.13	3.97	0.46021	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.069403	0.56097	D	0.000023	T	0.44912	0.1316	H	0.99130	4.44	0.35165	D	0.771068	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.69000	-0.5261	10	0.87932	D	0	.	9.8751	0.41197	0.0:0.0827:0.0:0.9173	.	208;208	Q6P179-3;Q6P179	.;ERAP2_HUMAN	S	208	ENSP00000400376:F208S;ENSP00000421175:F208S;ENSP00000421849:F208S;ENSP00000369235:F208S;ENSP00000425758:F208S	ENSP00000369235:F208S	F	+	2	0	ERAP2	96245299	1.000000	0.71417	0.981000	0.43875	0.985000	0.73830	4.610000	0.61155	0.901000	0.36495	0.455000	0.32223	TTC	.	.		0.443	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350	
SH3TC2	79628	hgsc.bcm.edu	37	5	148411195	148411195	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr5:148411195C>A	ENST00000515425.1	-	9	1158	c.1057G>T	c.(1057-1059)Gga>Tga	p.G353*	SH3TC2_ENST00000513340.1_5'UTR|SH3TC2_ENST00000394358.2_Nonsense_Mutation_p.G238*|SH3TC2_ENST00000512049.1_Nonsense_Mutation_p.G346*|SH3TC2_ENST00000538184.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	353					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCACTTCCCAGGGCCAAC	0.527																																					p.G353X		Atlas-SNP	.											.	SH3TC2	178	.	0			c.G1057T						.						160.0	128.0	139.0					5																	148411195		2203	4300	6503	SO:0001587	stop_gained	79628	exon9			CACTTCCCAGGGC	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1057G>T	chr5.hg19:g.148411195C>A	ENSP00000423660:p.Gly353*	103.0	0.0		153.0	131.0	NM_024577	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Nonsense_Mutation	SNP	ENST00000515425.1	hg19	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865918	0.91511	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	.	.	.	5.53	4.66	0.58398	.	0.208186	0.44097	D	0.000488	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	9.565	0.39394	0.1737:0.7505:0.0:0.0758	.	.	.	.	X	353;346;238	.	ENSP00000377886:G238X	G	-	1	0	SH3TC2	148391388	0.677000	0.27577	0.719000	0.30619	0.397000	0.30659	1.260000	0.32968	1.468000	0.48064	0.563000	0.77884	GGA	.	.		0.527	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577	
RANBP17	64901	hgsc.bcm.edu	37	5	170610173	170610173	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr5:170610173A>G	ENST00000523189.1	+	17	2032	c.1868A>G	c.(1867-1869)tAt>tGt	p.Y623C	RANBP17_ENST00000521759.1_Intron	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	623					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTATTACTTATATCCTTTTA	0.269			T	TRD@	ALL																																p.Y623C		Atlas-SNP	.		Dom	yes		5	5q34	64901	RAN binding protein 17		L	.	RANBP17	108	.	0			c.A1868G						.						27.0	31.0	30.0					5																	170610173		2190	4280	6470	SO:0001583	missense	64901	exon17			TTACTTATATCCT	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1868A>G	chr5.hg19:g.170610173A>G	ENSP00000427975:p.Tyr623Cys	288.0	0.0		56.0	44.0	NM_022897	Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	hg19	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.267783	0.59540	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.67523	-0.27	5.49	5.49	0.81192	Armadillo-type fold (1);	1.051830	0.07457	N	0.899966	T	0.78666	0.4319	M	0.74546	2.27	0.45295	D	0.998296	D	0.63046	0.992	P	0.54401	0.751	T	0.70324	-0.4903	10	0.41790	T	0.15	-13.0125	14.103	0.65070	1.0:0.0:0.0:0.0	.	623	Q9H2T7	RBP17_HUMAN	C	623;53	ENSP00000427975:Y623C	ENSP00000427975:Y623C	Y	+	2	0	RANBP17	170542778	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.839000	0.86812	2.194000	0.70268	0.533000	0.62120	TAT	.	.		0.269	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897	
OR2W1	26692	hgsc.bcm.edu	37	6	29012335	29012335	+	Silent	SNP	A	A	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr6:29012335A>T	ENST00000377175.1	-	1	682	c.618T>A	c.(616-618)atT>atA	p.I206I		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GTGTGAGGACAATTATAATGC	0.413																																					p.I206I		Atlas-SNP	.											.	OR2W1	36	.	0			c.T618A						.						148.0	150.0	150.0					6																	29012335		1511	2709	4220	SO:0001819	synonymous_variant	26692	exon1			GAGGACAATTATA	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.618T>A	chr6.hg19:g.29012335A>T		226.0	0.0		257.0	77.0	NM_030903	B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Silent	SNP	ENST00000377175.1	hg19	CCDS4656.1																																																																																			.	.		0.413	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2		
KIAA1244	57221	hgsc.bcm.edu	37	6	138550956	138550956	+	Silent	SNP	T	T	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr6:138550956T>C	ENST00000251691.4	+	5	553	c.387T>C	c.(385-387)gaT>gaC	p.D129D		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAACATTTGATCTGAATGGGA	0.443																																					p.D129D		Atlas-SNP	.											.	KIAA1244	236	.	0			c.T387C						.						194.0	159.0	171.0					6																	138550956		2203	4300	6503	SO:0001819	synonymous_variant	57221	exon5			ATTTGATCTGAAT	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.387T>C	chr6.hg19:g.138550956T>C		302.0	0.0		406.0	181.0	NM_020340		Silent	SNP	ENST00000251691.4	hg19	CCDS5189.2																																																																																			.	.		0.443	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
ARID1B	57492	hgsc.bcm.edu	37	6	157502282	157502282	+	Silent	SNP	C	C	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr6:157502282C>G	ENST00000350026.5	+	11	3277	c.3276C>G	c.(3274-3276)gtC>gtG	p.V1092V	ARID1B_ENST00000275248.4_Silent_p.V1087V|ARID1B_ENST00000367148.1_Silent_p.V1145V|ARID1B_ENST00000346085.5_Silent_p.V1105V|ARID1B_ENST00000478761.2_3'UTR	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1092	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.		V -> I. {ECO:0000269|PubMed:22405089}.		chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GACTCTACGTCTGCGTCAAAG	0.537																																					p.V1105V		Atlas-SNP	.											.	ARID1B	320	.	0			c.C3315G						.						57.0	56.0	56.0					6																	157502282		2203	4296	6499	SO:0001819	synonymous_variant	57492	exon12			CTACGTCTGCGTC	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3276C>G	chr6.hg19:g.157502282C>G		40.0	0.0		111.0	40.0	NM_020732	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	hg19	CCDS5251.2																																																																																			.	.		0.537	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
SHFM1	7979	hgsc.bcm.edu	37	7	96324155	96324155	+	Missense_Mutation	SNP	T	T	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr7:96324155T>G	ENST00000248566.2	-	2	252	c.125A>C	c.(124-126)aAt>aCt	p.N42T	SHFM1_ENST00000417009.1_Missense_Mutation_p.N42T|SHFM1_ENST00000444799.1_Missense_Mutation_p.N42T|SHFM1_ENST00000413065.1_Missense_Mutation_p.N42T	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	42	Asp/Glu-rich (highly acidic).				double-strand break repair via homologous recombination (GO:0000724)	proteasome complex (GO:0000502)		p.N42S(1)		breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					ATCATCCCAATTATCCTCCCA	0.343								Homologous recombination																													p.N42T		Atlas-SNP	.											SHFM1,NS,carcinoma,0,1	SHFM1	12	.	1	Substitution - Missense(1)	prostate(1)	c.A125C						.						181.0	177.0	178.0					7																	96324155		2203	4300	6503	SO:0001583	missense	7979	exon2			TCCCAATTATCCT	U41515	CCDS5646.1	7q21.3	2010-04-22			ENSG00000127922	ENSG00000127922			10845	protein-coding gene	gene with protein product	"""deleted in split-hand/foot 1"""	601285		SHFD1		1895319, 8733122	Standard	NM_006304		Approved	DSS1, Shfdg1, ECD, SEM1, SHSF1	uc003uoi.3	P60896	OTTHUMG00000150680	ENST00000248566.2:c.125A>C	chr7.hg19:g.96324155T>G	ENSP00000248566:p.Asn42Thr	143.0	0.0		147.0	17.0	NM_006304	Q13437|Q61067	Missense_Mutation	SNP	ENST00000248566.2	hg19	CCDS5646.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.370713	0.61624	.	.	ENSG00000127922	ENST00000417009;ENST00000444799;ENST00000413065;ENST00000248566	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.68879	0.3049	.	.	.	0.80722	D	1	D;P	0.76494	0.999;0.807	D;P	0.81914	0.995;0.728	T	0.72574	-0.4252	9	0.56958	D	0.05	.	15.1597	0.72775	0.0:0.0:0.0:1.0	.	42;42	F2Z309;P60896	.;DSS1_HUMAN	T	42	ENSP00000416322:N42T;ENSP00000390049:N42T;ENSP00000409481:N42T;ENSP00000248566:N42T	ENSP00000248566:N42T	N	-	2	0	SHFM1	96162091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.815000	0.86186	2.202000	0.70862	0.528000	0.53228	AAT	.	.		0.343	SHFM1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319595.1	NM_006304	
NRCAM	4897	hgsc.bcm.edu	37	7	107836240	107836240	+	Silent	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr7:107836240A>G	ENST00000425651.2	-	12	1427	c.1428T>C	c.(1426-1428)tgT>tgC	p.C476C	NRCAM_ENST00000379022.4_Silent_p.C476C|NRCAM_ENST00000413765.2_Silent_p.C457C|NRCAM_ENST00000379028.3_Silent_p.C476C|NRCAM_ENST00000379024.4_Silent_p.C457C|NRCAM_ENST00000351718.4_Silent_p.C470C	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	476	Ig-like 5.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CAAAGAAGGCACAGTCTAGTA	0.413																																					p.C476C		Atlas-SNP	.											.	NRCAM	267	.	0			c.T1428C						.						138.0	119.0	126.0					7																	107836240		2203	4300	6503	SO:0001819	synonymous_variant	4897	exon12			GAAGGCACAGTCT		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1428T>C	chr7.hg19:g.107836240A>G		223.0	0.0		359.0	177.0	NM_001037132	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	hg19	CCDS47686.1																																																																																			.	.		0.413	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132	
PNPLA8	50640	hgsc.bcm.edu	37	7	108155899	108155899	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr7:108155899G>A	ENST00000422087.1	-	4	443	c.37C>T	c.(37-39)Ctc>Ttc	p.L13F	PNPLA8_ENST00000257694.8_Missense_Mutation_p.L13F|PNPLA8_ENST00000426128.2_Missense_Mutation_p.L13F|PNPLA8_ENST00000453144.1_Intron|PNPLA8_ENST00000388728.5_Missense_Mutation_p.L13F|PNPLA8_ENST00000436062.1_Missense_Mutation_p.L13F|PNPLA8_ENST00000483879.1_Intron	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	13					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TTACTAAGGAGGTAAATATAT	0.338																																					p.L13F		Atlas-SNP	.											.	PNPLA8	82	.	0			c.C37T						.						60.0	56.0	58.0					7																	108155899		2202	4300	6502	SO:0001583	missense	50640	exon2			TAAGGAGGTAAAT	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.37C>T	chr7.hg19:g.108155899G>A	ENSP00000410804:p.Leu13Phe	87.0	0.0		82.0	43.0	NM_001256008	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	hg19	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057455	0.19907	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000436062;ENST00000427008;ENST00000415498	D;D;D;D;D	0.98493	-3.77;-4.96;-3.77;-4.96;-4.96	5.26	2.4	0.29515	.	0.649498	0.14456	N	0.318482	D	0.94676	0.8283	L	0.46157	1.445	0.25488	N	0.987675	B	0.11235	0.004	B	0.09377	0.004	D	0.85450	0.1160	10	0.12430	T	0.62	.	4.4129	0.11441	0.4079:0.0:0.4435:0.1486	.	13	Q9NP80	PLPL8_HUMAN	F	13	ENSP00000394988:L13F;ENSP00000257694:L13F;ENSP00000373380:L13F;ENSP00000410804:L13F;ENSP00000406779:L13F	ENSP00000257694:L13F	L	-	1	0	PNPLA8	107943135	0.993000	0.37304	1.000000	0.80357	0.977000	0.68977	0.170000	0.16663	0.565000	0.29255	0.460000	0.39030	CTC	.	.		0.338	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723	
AASS	10157	hgsc.bcm.edu	37	7	121756964	121756964	+	Silent	SNP	G	G	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr7:121756964G>C	ENST00000393376.1	-	6	830	c.735C>G	c.(733-735)ccC>ccG	p.P245P	AASS_ENST00000417368.2_Silent_p.P245P|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	245	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TTAATTCATGGGGCTCCACAT	0.333																																					p.P245P		Atlas-SNP	.											.	AASS	123	.	0			c.C735G						.						76.0	84.0	81.0					7																	121756964		2203	4300	6503	SO:0001819	synonymous_variant	10157	exon7			TTCATGGGGCTCC	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.735C>G	chr7.hg19:g.121756964G>C		94.0	0.0		118.0	19.0	NM_005763	O95462	Silent	SNP	ENST00000393376.1	hg19	CCDS5783.1																																																																																			.	.		0.333	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	
TACC1	6867	hgsc.bcm.edu	37	8	38678084	38678084	+	Missense_Mutation	SNP	G	G	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr8:38678084G>C	ENST00000317827.4	+	3	1701	c.1322G>C	c.(1321-1323)tGt>tCt	p.C441S	TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520973.1_Missense_Mutation_p.C246S|TACC1_ENST00000519416.1_Missense_Mutation_p.C246S|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.C396S|TACC1_ENST00000520340.1_Missense_Mutation_p.C405S|TACC1_ENST00000520615.1_Missense_Mutation_p.C246S|TACC1_ENST00000443286.2_Missense_Mutation_p.C457S|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520611.1_5'UTR|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000379931.3_Missense_Mutation_p.C441S	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	441	SPAZ 2.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AGTGACTTTTGTTCTCCCACT	0.468																																					p.C441S		Atlas-SNP	.											.	TACC1	98	.	0			c.G1322C						.						158.0	171.0	167.0					8																	38678084		2203	4300	6503	SO:0001583	missense	6867	exon3			ACTTTTGTTCTCC	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1322G>C	chr8.hg19:g.38678084G>C	ENSP00000321703:p.Cys441Ser	16.0	0.0		60.0	10.0	NM_006283	B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	hg19	CCDS6109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.022|9.022	0.985143|0.985143	0.18889|0.18889	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931;ENST00000520973|ENST00000521866;ENST00000518809	T;T;T;T;T;T;T;T|.	0.09538|.	3.01;3.01;3.15;3.15;2.97;3.17;3.15;3.0|.	5.5|5.5	3.53|3.53	0.40419|0.40419	.|.	0.473755|.	0.24750|.	N|.	0.035919|.	T|T	0.54143|0.54143	0.1840|0.1840	L|L	0.53249|0.53249	1.67|1.67	0.33831|0.33831	D|D	0.630281|0.630281	P;B;B;B;P;B;B;B|.	0.43352|.	0.804;0.007;0.007;0.281;0.546;0.026;0.012;0.034|.	B;B;B;B;B;B;B;B|.	0.39840|.	0.311;0.005;0.005;0.081;0.221;0.014;0.01;0.031|.	T|T	0.61720|0.61720	-0.7005|-0.7005	10|5	0.09338|.	T|.	0.73|.	8.3026|8.3026	9.9902|9.9902	0.41865|0.41865	0.1706:0.0:0.8294:0.0|0.1706:0.0:0.8294:0.0	.|.	246;246;246;457;441;441;246;396|.	B7Z3G3;E7EVI4;B4DH49;B4E302;O75410-2;O75410;E7ET87;O75410-7|.	.;.;.;.;.;TACC1_HUMAN;.;.|.	S|L	246;246;246;457;396;413;441;441;246|216;79	ENSP00000428687:C246S;ENSP00000428450:C246S;ENSP00000393647:C457S;ENSP00000428706:C396S;ENSP00000430355:C413S;ENSP00000321703:C441S;ENSP00000369263:C441S;ENSP00000430959:C246S|.	ENSP00000321703:C441S|.	C|V	+|+	2|1	0|0	TACC1|TACC1	38797241|38797241	0.989000|0.989000	0.36119|0.36119	0.957000|0.957000	0.39632|0.39632	0.939000|0.939000	0.58152|0.58152	2.094000|2.094000	0.41719|0.41719	0.564000|0.564000	0.29238|0.29238	0.655000|0.655000	0.94253|0.94253	TGT|GTT	.	.		0.468	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283	
ZMAT4	79698	hgsc.bcm.edu	37	8	40683185	40683185	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr8:40683185G>A	ENST00000297737.6	-	2	157	c.11C>T	c.(10-12)tCc>tTc	p.S4F	ZMAT4_ENST00000523823.1_5'UTR|ZMAT4_ENST00000315769.7_Missense_Mutation_p.S4F	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	4						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			ATCAATATCGGAGGACTTCAT	0.443																																					p.S4F		Atlas-SNP	.											.	ZMAT4	47	.	0			c.C11T						.						44.0	37.0	39.0					8																	40683185		2186	4262	6448	SO:0001583	missense	79698	exon2			ATATCGGAGGACT	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.11C>T	chr8.hg19:g.40683185G>A	ENSP00000297737:p.Ser4Phe	35.0	0.0		87.0	37.0	NM_024645	Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	hg19	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428304	0.43122	.	.	ENSG00000165061	ENST00000315769;ENST00000297737;ENST00000519406	T;T;T	0.46819	0.86;0.87;0.87	5.37	5.37	0.77165	.	0.174304	0.50627	D	0.000101	T	0.48169	0.1485	N	0.08118	0	0.46376	D	0.999019	P;P	0.48694	0.914;0.855	D;B	0.63703	0.917;0.36	T	0.57142	-0.7862	10	0.72032	D	0.01	-16.5024	14.9923	0.71399	0.0:0.0:1.0:0.0	.	4;4	Q9H898-2;Q9H898	.;ZMAT4_HUMAN	F	4	ENSP00000319785:S4F;ENSP00000297737:S4F;ENSP00000428423:S4F	ENSP00000297737:S4F	S	-	2	0	ZMAT4	40802342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.339000	0.72969	2.692000	0.91855	0.591000	0.81541	TCC	.	.		0.443	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645	
OPRK1	4986	hgsc.bcm.edu	37	8	54147486	54147486	+	Missense_Mutation	SNP	G	G	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr8:54147486G>C	ENST00000265572.3	-	3	740	c.443C>G	c.(442-444)aCc>aGc	p.T148S	OPRK1_ENST00000520287.1_Missense_Mutation_p.T148S|OPRK1_ENST00000524278.1_Missense_Mutation_p.T59S|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	148					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CATGGTCAAGGTGAAGATGCT	0.483																																					p.T148S		Atlas-SNP	.											.	OPRK1	90	.	0			c.C443G						.						140.0	113.0	122.0					8																	54147486		2203	4300	6503	SO:0001583	missense	4986	exon3			GTCAAGGTGAAGA		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.443C>G	chr8.hg19:g.54147486G>C	ENSP00000265572:p.Thr148Ser	99.0	0.0		225.0	64.0	NM_000912	E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	hg19	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379661	0.82682	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.19532	2.14;2.14;2.14	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35847	-0.9772	10	0.12430	T	0.62	.	20.3732	0.98896	0.0:0.0:1.0:0.0	.	148	P41145	OPRK_HUMAN	S	148;59;148;134	ENSP00000265572:T148S;ENSP00000430923:T59S;ENSP00000429706:T148S	ENSP00000265572:T148S	T	-	2	0	OPRK1	54310039	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	9.711000	0.98735	2.809000	0.96659	0.650000	0.86243	ACC	.	.		0.483	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1		
PREX2	80243	hgsc.bcm.edu	37	8	68934295	68934295	+	Missense_Mutation	SNP	G	G	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr8:68934295G>C	ENST00000288368.4	+	4	638	c.361G>C	c.(361-363)Gaa>Caa	p.E121Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	121	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TATCTATGATGAATATTGTAG	0.294																																					p.E121Q		Atlas-SNP	.											.	PREX2	614	.	0			c.G361C						.						108.0	106.0	107.0					8																	68934295		2202	4300	6502	SO:0001583	missense	80243	exon4			TATGATGAATATT	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.361G>C	chr8.hg19:g.68934295G>C	ENSP00000288368:p.Glu121Gln	75.0	0.0		43.0	16.0	NM_025170	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	hg19	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067046	0.93898	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.64085	-0.08	6.04	6.04	0.98038	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.75781	0.3896	L	0.45051	1.395	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.999	D;D;D	0.91635	0.999;0.981;0.979	T	0.75739	-0.3212	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	121;121;121	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	Q	121	ENSP00000288368:E121Q	ENSP00000288368:E121Q	E	+	1	0	PREX2	69096849	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.452000	0.97615	2.873000	0.98535	0.563000	0.77884	GAA	.	.		0.294	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	
DCAF4L2	138009	hgsc.bcm.edu	37	8	88886016	88886016	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr8:88886016G>A	ENST00000319675.3	-	1	280	c.184C>T	c.(184-186)Cat>Tat	p.H62Y		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	62										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TCCCAGCTATGAATCTGGACC	0.512																																					p.H62Y		Atlas-SNP	.											.	DCAF4L2	187	.	0			c.C184T						.						129.0	119.0	123.0					8																	88886016		2203	4300	6503	SO:0001583	missense	138009	exon1			AGCTATGAATCTG	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.184C>T	chr8.hg19:g.88886016G>A	ENSP00000316496:p.His62Tyr	199.0	0.0		544.0	271.0	NM_152418		Missense_Mutation	SNP	ENST00000319675.3	hg19	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	6.232	0.410986	0.11812	.	.	ENSG00000176566	ENST00000319675	T	0.78126	-1.15	1.92	0.997	0.19851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.410508	0.30101	N	0.010409	T	0.49525	0.1562	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37663	-0.9696	10	0.42905	T	0.14	.	4.8635	0.13596	0.2101:0.0:0.7899:0.0	.	62	Q8NA75	DC4L2_HUMAN	Y	62	ENSP00000316496:H62Y	ENSP00000316496:H62Y	H	-	1	0	DCAF4L2	88955132	1.000000	0.71417	0.005000	0.12908	0.018000	0.09664	0.673000	0.25203	-0.061000	0.13110	-0.444000	0.05651	CAT	.	.		0.512	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
OR13D1	286365	hgsc.bcm.edu	37	9	107457698	107457698	+	Silent	SNP	T	T	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr9:107457698T>A	ENST00000318763.5	+	1	1039	c.996T>A	c.(994-996)gcT>gcA	p.A332A		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	332						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TCAAAGAGGCTGTAAAGAAAG	0.403																																					p.A332A		Atlas-SNP	.											.	OR13D1	42	.	0			c.T996A						.						70.0	72.0	72.0					9																	107457698		2203	4300	6503	SO:0001819	synonymous_variant	286365	exon1			AGAGGCTGTAAAG		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.996T>A	chr9.hg19:g.107457698T>A		122.0	0.0		131.0	36.0	NM_001004484	B9EIS1|Q6IFL1	Silent	SNP	ENST00000318763.5	hg19	CCDS35094.1																																																																																			.	.		0.403	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1		
ZNF462	58499	hgsc.bcm.edu	37	9	109687219	109687219	+	Silent	SNP	T	T	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr9:109687219T>G	ENST00000277225.5	+	3	1315	c.1026T>G	c.(1024-1026)tcT>tcG	p.S342S	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Silent_p.S342S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	342					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CGCCCATGTCTTACCCTCAGA	0.488																																					p.S342S		Atlas-SNP	.											.	ZNF462	322	.	0			c.T1026G						.						75.0	70.0	71.0					9																	109687219		2203	4300	6503	SO:0001819	synonymous_variant	58499	exon3			CATGTCTTACCCT	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1026T>G	chr9.hg19:g.109687219T>G		54.0	0.0		197.0	35.0	NM_021224	Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	hg19	CCDS35096.1																																																																																			.	.		0.488	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
PKN3	29941	hgsc.bcm.edu	37	9	131476850	131476850	+	Silent	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr9:131476850G>A	ENST00000291906.4	+	12	1884	c.1491G>A	c.(1489-1491)ctG>ctA	p.L497L		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	497	Pro-rich.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GTAATTTCCTGCCCAAGAAGA	0.592																																					p.L497L		Atlas-SNP	.											.	PKN3	62	.	0			c.G1491A						.						69.0	70.0	70.0					9																	131476850		2203	4300	6503	SO:0001819	synonymous_variant	29941	exon12			TTTCCTGCCCAAG	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1491G>A	chr9.hg19:g.131476850G>A		89.0	0.0		275.0	111.0	NM_013355	Q9UM03	Silent	SNP	ENST00000291906.4	hg19	CCDS6908.1																																																																																			.	.		0.592	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355	
LAMC3	10319	hgsc.bcm.edu	37	9	133948175	133948175	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr9:133948175T>A	ENST00000361069.4	+	19	3503	c.3370T>A	c.(3370-3372)Tcc>Acc	p.S1124T	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1124	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGTGCTGGAGTCCTCGGAAGA	0.637																																					p.S1124T		Atlas-SNP	.											.	LAMC3	167	.	0			c.T3370A						.						32.0	34.0	34.0					9																	133948175		2203	4300	6503	SO:0001583	missense	10319	exon19			CTGGAGTCCTCGG	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3370T>A	chr9.hg19:g.133948175T>A	ENSP00000354360:p.Ser1124Thr	94.0	0.0		283.0	127.0	NM_006059	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	hg19	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	T	4.268	0.048908	0.08243	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.27557	1.66	4.97	2.46	0.29980	.	0.420127	0.27122	N	0.020825	T	0.26846	0.0657	M	0.70595	2.14	0.23559	N	0.997413	B	0.33345	0.409	B	0.30646	0.118	T	0.23190	-1.0195	10	0.10111	T	0.7	.	9.8917	0.41294	0.0:0.0:0.3313:0.6687	.	1124	Q9Y6N6	LAMC3_HUMAN	T	1124	ENSP00000354360:S1124T	ENSP00000347156:S1124T	S	+	1	0	LAMC3	132937996	0.960000	0.32886	0.553000	0.28255	0.932000	0.56968	1.458000	0.35223	0.278000	0.22164	0.454000	0.30748	TCC	.	.		0.637	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	
MCM10	55388	hgsc.bcm.edu	37	10	13239672	13239672	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr10:13239672C>T	ENST00000484800.2	+	15	2130	c.2027C>T	c.(2026-2028)aCa>aTa	p.T676I	MCM10_ENST00000378694.1_Missense_Mutation_p.T675I|MCM10_ENST00000378714.3_Missense_Mutation_p.T675I			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	676					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTTACAAAAACAAACCCAAAC	0.408																																					p.T676I		Atlas-SNP	.											.	MCM10	76	.	0			c.C2027T						.						95.0	88.0	90.0					10																	13239672		2203	4300	6503	SO:0001583	missense	55388	exon15			CAAAAACAAACCC	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.2027C>T	chr10.hg19:g.13239672C>T	ENSP00000418268:p.Thr676Ile	148.0	0.0		287.0	118.0	NM_182751	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	hg19	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	C	8.838	0.941562	0.18281	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.29655	1.56;1.56;1.56	5.23	2.32	0.28847	Replication factor Mcm10 (1);	0.398558	0.30859	N	0.008728	T	0.19167	0.0460	L	0.34521	1.04	0.26907	N	0.966989	B;B;B	0.12630	0.006;0.004;0.005	B;B;B	0.17098	0.017;0.004;0.007	T	0.14671	-1.0464	10	0.40728	T	0.16	0.2019	4.1158	0.10081	0.1306:0.5994:0.1265:0.1435	.	675;675;676	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	I	675;676;676;675	ENSP00000367986:T675I;ENSP00000418268:T676I;ENSP00000367966:T675I	ENSP00000354945:T676I	T	+	2	0	MCM10	13279678	0.807000	0.29009	0.994000	0.49952	0.761000	0.43186	0.511000	0.22739	0.283000	0.22279	0.655000	0.94253	ACA	.	.		0.408	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751	
CCDC6	8030	hgsc.bcm.edu	37	10	61572436	61572436	+	Missense_Mutation	SNP	T	T	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr10:61572436T>G	ENST00000263102.6	-	5	1035	c.804A>C	c.(802-804)gaA>gaC	p.E268D		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	268						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		GCCGTTCCACTTCATTCTTTA	0.438			T	RET	NSCLC																																p.E268D		Atlas-SNP	.		Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	.	CCDC6	44	.	0			c.A804C						.						102.0	103.0	103.0					10																	61572436		2203	4300	6503	SO:0001583	missense	8030	exon5			TTCCACTTCATTC	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.804A>C	chr10.hg19:g.61572436T>G	ENSP00000263102:p.Glu268Asp	153.0	0.0		96.0	82.0	NM_005436	Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	hg19	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.505999	0.64410	.	.	ENSG00000108091	ENST00000263102	D	0.94138	-3.36	5.82	1.51	0.23008	.	0.043090	0.85682	D	0.000000	D	0.95408	0.8509	M	0.74467	2.265	0.58432	D	0.999999	D	0.57257	0.979	D	0.74023	0.982	D	0.94158	0.7412	10	0.72032	D	0.01	-13.4153	9.9544	0.41657	0.0:0.2609:0.0:0.7391	.	268	Q16204	CCDC6_HUMAN	D	268	ENSP00000263102:E268D	ENSP00000263102:E268D	E	-	3	2	CCDC6	61242442	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	0.690000	0.25451	0.374000	0.24650	0.528000	0.53228	GAA	.	.		0.438	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436	
OR10A2	341276	hgsc.bcm.edu	37	11	6891293	6891293	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr11:6891293C>T	ENST00000307322.4	+	1	370	c.308C>T	c.(307-309)gCt>gTt	p.A103V		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTCCTCCTGGCTACCATGGCA	0.542																																					p.A103V		Atlas-SNP	.											.	OR10A2	55	.	0			c.C308T						.						119.0	116.0	117.0					11																	6891293		2201	4296	6497	SO:0001583	missense	341276	exon1			TCCTGGCTACCAT	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.308C>T	chr11.hg19:g.6891293C>T	ENSP00000303862:p.Ala103Val	134.0	0.0		265.0	114.0	NM_001004460	B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	hg19	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	c	13.52	2.261735	0.39995	.	.	ENSG00000170790	ENST00000307322	T	0.02015	4.5	4.19	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.104975	0.42420	D	0.000708	T	0.04588	0.0125	M	0.64676	1.99	0.32945	D	0.519008	P	0.41748	0.761	B	0.41332	0.354	T	0.05683	-1.0870	10	0.87932	D	0	.	14.4844	0.67606	0.0:1.0:0.0:0.0	.	103	Q9H208	O10A2_HUMAN	V	103	ENSP00000303862:A103V	ENSP00000303862:A103V	A	+	2	0	OR10A2	6847869	0.047000	0.20315	0.988000	0.46212	0.360000	0.29518	2.781000	0.47750	2.330000	0.79161	0.650000	0.86243	GCT	.	.		0.542	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460	
ADAMTS20	80070	hgsc.bcm.edu	37	12	43833853	43833853	+	Silent	SNP	C	C	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr12:43833853C>A	ENST00000389420.3	-	17	2309	c.2310G>T	c.(2308-2310)ggG>ggT	p.G770G	ADAMTS20_ENST00000395541.2_5'Flank|ADAMTS20_ENST00000553158.1_Silent_p.G770G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	770	Spacer.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AAAGAAAATTCCCTTCAGCGT	0.294																																					p.G770G		Atlas-SNP	.											.	ADAMTS20	635	.	0			c.G2310T						.						33.0	27.0	29.0					12																	43833853		2189	4275	6464	SO:0001819	synonymous_variant	80070	exon17			AAAATTCCCTTCA	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2310G>T	chr12.hg19:g.43833853C>A		45.0	0.0		38.0	16.0	NM_025003	A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	hg19	CCDS31778.2																																																																																			.	.		0.294	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
SCN8A	6334	hgsc.bcm.edu	37	12	52056826	52056826	+	Silent	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr12:52056826C>T	ENST00000354534.6	+	2	403	c.225C>T	c.(223-225)ggC>ggT	p.G75G	SCN8A_ENST00000550891.1_Silent_p.G75G|SCN8A_ENST00000545061.1_Silent_p.G75G	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	75					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TCCCCCAAGGCCTGGTTGCAG	0.552																																					p.G75G		Atlas-SNP	.											.	SCN8A	331	.	0			c.C225T						.						126.0	128.0	127.0					12																	52056826		2005	4158	6163	SO:0001819	synonymous_variant	6334	exon2			CCAAGGCCTGGTT	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.225C>T	chr12.hg19:g.52056826C>T		151.0	0.0		254.0	123.0	NM_014191	B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	hg19	CCDS44891.1																																																																																			.	.		0.552	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191	
KRT6C	286887	hgsc.bcm.edu	37	12	52863028	52863028	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr12:52863028T>A	ENST00000252250.6	-	9	1560	c.1513A>T	c.(1513-1515)Agt>Tgt	p.S505C		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	505	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CCTAAGCCACTGCCGACACCG	0.602																																					p.S505C		Atlas-SNP	.											.	KRT6C	55	.	0			c.A1513T						.						45.0	43.0	44.0					12																	52863028		2203	4299	6502	SO:0001583	missense	286887	exon9			AGCCACTGCCGAC	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1513A>T	chr12.hg19:g.52863028T>A	ENSP00000252250:p.Ser505Cys	72.0	0.0		135.0	29.0	NM_173086	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	hg19	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	T	8.854	0.945401	0.18356	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.87809	-2.3	3.17	-0.525	0.11917	.	0.508870	0.18334	N	0.144390	T	0.80752	0.4683	L	0.61218	1.895	0.19945	N	0.999943	B	0.09022	0.002	B	0.09377	0.004	T	0.67393	-0.5682	10	0.39692	T	0.17	.	4.9899	0.14209	0.1383:0.3436:0.0:0.5181	.	505	P48668	K2C6C_HUMAN	C	505;490	ENSP00000252250:S505C	ENSP00000252250:S505C	S	-	1	0	KRT6C	51149295	0.000000	0.05858	0.009000	0.14445	0.126000	0.20510	-2.726000	0.00808	0.020000	0.15106	-0.660000	0.03859	AGT	.	.		0.602	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086	
HOXC8	3224	hgsc.bcm.edu	37	12	54405067	54405067	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr12:54405067G>T	ENST00000040584.4	+	2	868	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	211					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						GAACAACAAGGATAAACTGCC	0.488																																					p.D211Y	GBM(197;701 2226 7002 18822 41696)	Atlas-SNP	.											.	HOXC8	15	.	0			c.G631T						.						79.0	86.0	84.0					12																	54405067		2203	4300	6503	SO:0001583	missense	3224	exon2			AACAAGGATAAAC	X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"""Homeoboxes / ANTP class : HOXL subclass"""	5129	protein-coding gene	gene with protein product		142970	"""homeo box C8"""	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.631G>T	chr12.hg19:g.54405067G>T	ENSP00000040584:p.Asp211Tyr	43.0	0.0		146.0	33.0	NM_022658	A8K4J4|O15221|O15362	Missense_Mutation	SNP	ENST00000040584.4	hg19	CCDS8870.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957836	0.73902	.	.	ENSG00000037965	ENST00000040584	D	0.91237	-2.81	5.16	5.16	0.70880	Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.91324	0.7264	N	0.19112	0.55	0.80722	D	1	D	0.67145	0.996	D	0.67725	0.953	D	0.92922	0.6356	10	0.87932	D	0	.	17.7934	0.88562	0.0:0.0:1.0:0.0	.	211	P31273	HXC8_HUMAN	Y	211	ENSP00000040584:D211Y	ENSP00000040584:D211Y	D	+	1	0	HOXC8	52691334	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.567000	0.86603	0.650000	0.86243	GAT	.	.		0.488	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358957.2		
NCOR2	9612	hgsc.bcm.edu	37	12	124829344	124829344	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr12:124829344C>T	ENST00000405201.1	-	32	4513	c.4513G>A	c.(4513-4515)Gag>Aag	p.E1505K	NCOR2_ENST00000404621.1_Missense_Mutation_p.E1495K|NCOR2_ENST00000429285.2_Missense_Mutation_p.E1495K|NCOR2_ENST00000356219.3_Missense_Mutation_p.E1512K|NCOR2_ENST00000404121.2_Missense_Mutation_p.E1066K|NCOR2_ENST00000397355.1_Missense_Mutation_p.E1496K			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1513					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGGCTCTCCTCGTAGCAGGCA	0.716																																					p.E1505K		Atlas-SNP	.											NCOR2_ENST00000405201,NS,carcinoma,0,2	NCOR2	475	.	0			c.G4513A						.						12.0	16.0	15.0					12																	124829344		1871	3961	5832	SO:0001583	missense	9612	exon34			TCTCCTCGTAGCA	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4513G>A	chr12.hg19:g.124829344C>T	ENSP00000384018:p.Glu1505Lys	17.0	0.0		72.0	18.0	NM_006312	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	hg19	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960726	0.53400	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53	4.36	4.36	0.52297	.	0.121187	0.53938	D	0.000049	T	0.69984	0.3172	M	0.75264	2.295	0.58432	D	0.999995	D;D;D	0.76494	0.998;0.998;0.999	P;P;P	0.61201	0.824;0.771;0.885	T	0.76258	-0.3025	10	0.87932	D	0	-14.6558	16.8679	0.86033	0.0:1.0:0.0:0.0	.	1495;1496;1505	C9J0Q5;C9J239;C9JFD3	.;.;.	K	1505;1495;1512;1496;1504;1066;1495	ENSP00000384018:E1505K;ENSP00000384202:E1495K;ENSP00000348551:E1512K;ENSP00000380513:E1496K;ENSP00000385618:E1066K;ENSP00000400281:E1495K	ENSP00000348551:E1512K	E	-	1	0	NCOR2	123395297	1.000000	0.71417	0.634000	0.29324	0.084000	0.17831	6.657000	0.74402	1.982000	0.57802	0.484000	0.47621	GAG	.	.		0.716	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
TMEM132C	92293	hgsc.bcm.edu	37	12	128899692	128899692	+	Silent	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr12:128899692G>A	ENST00000435159.2	+	2	501	c.501G>A	c.(499-501)ctG>ctA	p.L167L		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	167						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GGGAGAAGCTGCCATGCCTGA	0.622																																					p.L167L		Atlas-SNP	.											.	TMEM132C	142	.	0			c.G501A						.						15.0	19.0	18.0					12																	128899692		692	1591	2283	SO:0001819	synonymous_variant	92293	exon2			GAAGCTGCCATGC	AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.501G>A	chr12.hg19:g.128899692G>A		60.0	0.0		156.0	26.0	NM_001136103	Q69YX8	Silent	SNP	ENST00000435159.2	hg19																																																																																				.	.		0.622	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_044062	
MAP4K5	11183	hgsc.bcm.edu	37	14	50915494	50915494	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr14:50915494T>C	ENST00000013125.4	-	15	1390	c.1072A>G	c.(1072-1074)Atg>Gtg	p.M358V	RP11-406H23.2_ENST00000555257.1_lincRNA	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	358					activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					ATTCTTACCATTTCATCTCGT	0.284																																					p.M358V		Atlas-SNP	.											.	MAP4K5	48	.	0			c.A1072G						.						82.0	76.0	78.0					14																	50915494		1801	4063	5864	SO:0001583	missense	11183	exon15			TTACCATTTCATC	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1072A>G	chr14.hg19:g.50915494T>C	ENSP00000013125:p.Met358Val	200.0	0.0		39.0	29.0	NM_006575	Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	hg19		.	.	.	.	.	.	.	.	.	.	T	10.38	1.334513	0.24253	.	.	ENSG00000012983	ENST00000013125	T	0.12879	2.64	5.79	4.64	0.57946	Protein kinase-like domain (1);	0.091042	0.64402	N	0.000001	T	0.13586	0.0329	L	0.51422	1.61	0.45528	D	0.998486	B;B;B	0.22480	0.0;0.036;0.07	B;B;B	0.22753	0.0;0.041;0.016	T	0.05649	-1.0872	10	0.24483	T	0.36	.	10.9645	0.47403	0.0:0.0742:0.0:0.9258	.	32;358;358	B3KWC4;B2R928;Q9Y4K4	.;.;M4K5_HUMAN	V	358	ENSP00000013125:M358V	ENSP00000013125:M358V	M	-	1	0	MAP4K5	49985244	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.266000	0.51569	0.996000	0.38943	0.533000	0.62120	ATG	.	.		0.284	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575	
ZFYVE26	23503	hgsc.bcm.edu	37	14	68238928	68238928	+	Splice_Site	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr14:68238928C>T	ENST00000347230.4	-	28	5459		c.e28-1		ZFYVE26_ENST00000555452.1_Splice_Site	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26						cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGGAGATACCTGGGAGGCAG	0.473																																					.		Atlas-SNP	.											.	ZFYVE26	223	.	0			c.5321-1G>A						.						24.0	25.0	25.0					14																	68238928		2203	4299	6502	SO:0001630	splice_region_variant	23503	exon29			AGATACCTGGGAG	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5321-1G>A	chr14.hg19:g.68238928C>T		148.0	0.0		90.0	71.0	NM_015346	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Splice_Site	SNP	ENST00000347230.4	hg19	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042641	0.75732	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1626	0.86807	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZFYVE26	67308681	1.000000	0.71417	0.996000	0.52242	0.842000	0.47809	3.813000	0.55636	2.838000	0.97847	0.655000	0.94253	.	.	.		0.473	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	Intron
VWA3A	146177	hgsc.bcm.edu	37	16	22126725	22126725	+	Silent	SNP	G	G	A	rs368919567	byFrequency	TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr16:22126725G>A	ENST00000389398.5	+	9	843	c.747G>A	c.(745-747)ctG>ctA	p.L249L	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	249						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCAGCAACCTGCTACAAGCTC	0.493													G|||	5	0.000998403	0.0	0.0	5008	,	,		17217	0.0		0.0	False		,,,				2504	0.0051				p.L249L		Atlas-SNP	.											.	VWA3A	115	.	0			c.G747A						.						38.0	40.0	40.0					16																	22126725		1936	4132	6068	SO:0001819	synonymous_variant	146177	exon9			CAACCTGCTACAA	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.747G>A	chr16.hg19:g.22126725G>A		98.0	0.0		173.0	79.0	NM_173615	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Silent	SNP	ENST00000389398.5	hg19	CCDS45441.1																																																																																			.	.		0.493	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1		
ZNF668	79759	hgsc.bcm.edu	37	16	31072640	31072640	+	Missense_Mutation	SNP	A	A	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr16:31072640A>T	ENST00000538906.1	-	3	2393	c.1609T>A	c.(1609-1611)Tca>Aca	p.S537T	ZNF668_ENST00000394983.2_Missense_Mutation_p.S537T|ZNF668_ENST00000426488.2_Missense_Mutation_p.S560T|ZNF668_ENST00000300849.4_Missense_Mutation_p.S537T|ZNF668_ENST00000535577.1_Missense_Mutation_p.S537T|ZNF668_ENST00000539836.3_Missense_Mutation_p.S560T|ZNF668_ENST00000417110.2_5'Flank	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	537					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCCGGGTGTGAGCGCTCGTGC	0.667																																					p.S560T	Colon(181;1111 1980 5060 10512 25785)	Atlas-SNP	.											.	ZNF668	121	.	0			c.T1678A						.						39.0	39.0	39.0					16																	31072640		2197	4300	6497	SO:0001583	missense	79759	exon4			GGTGTGAGCGCTC		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1609T>A	chr16.hg19:g.31072640A>T	ENSP00000440149:p.Ser537Thr	51.0	0.0		147.0	28.0	NM_001172669	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	hg19	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100316	0.37048	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.04	3.92	0.45320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.340229	0.27275	N	0.020117	T	0.08492	0.0211	N	0.10760	0.04	0.28473	N	0.915336	B	0.17268	0.021	B	0.18561	0.022	T	0.19745	-1.0296	10	0.33940	T	0.23	-14.3349	8.5754	0.33595	0.6922:0.0:0.0:0.3078	.	537	Q96K58	ZN668_HUMAN	T	560;537;537;537;537	ENSP00000442573:S560T;ENSP00000441349:S537T;ENSP00000440149:S537T;ENSP00000378434:S537T;ENSP00000300849:S537T	ENSP00000300849:S537T	S	-	1	0	ZNF668	30980141	0.056000	0.20664	1.000000	0.80357	0.970000	0.65996	0.209000	0.17435	0.905000	0.36596	0.459000	0.35465	TCA	.	.		0.667	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706	
CENPT	80152	hgsc.bcm.edu	37	16	67859123	67859123	+	IGR	SNP	C	C	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr16:67859123C>A	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.D200E|TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.D185E|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.D254E	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TCATCGCAGACCTGAATGAGC	0.542																																					p.D200E		Atlas-SNP	.											.	TSNAXIP1	66	.	0			c.C600A						.						100.0	104.0	103.0					16																	67859123		2077	4215	6292	SO:0001628	intergenic_variant	55815	exon7			CGCAGACCTGAAT	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			chr16.hg19:g.67859123C>A		68.0	0.0		165.0	69.0	NM_018430	Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	hg19	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789254	0.49997	.	.	ENSG00000102904	ENST00000415766;ENST00000388833	T;T	0.00940	5.52;5.52	6.07	2.75	0.32379	.	0.271819	0.32736	N	0.005713	T	0.02119	0.0066	L	0.55834	1.745	0.30239	N	0.795175	D;B;B	0.65815	0.995;0.197;0.197	P;B;B	0.58873	0.847;0.062;0.062	T	0.31641	-0.9936	10	0.59425	D	0.04	-20.5441	3.1841	0.06594	0.367:0.4221:0.0:0.2109	.	185;254;200	E7ENJ7;B4DXD0;Q2TAA8	.;.;TXIP1_HUMAN	E	185;200	ENSP00000411472:D185E;ENSP00000373485:D200E	ENSP00000373485:D200E	D	+	3	2	TSNAXIP1	66416624	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	0.649000	0.24843	0.888000	0.36160	0.655000	0.94253	GAC	.	.		0.542	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082	
ZFHX3	463	hgsc.bcm.edu	37	16	72831362	72831363	+	Missense_Mutation	DNP	TG	TG	GC	rs568545014	byFrequency	TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr16:72831362_72831363TG>GC	ENST00000268489.5	-	9	5890_5891	c.5218_5219CA>GC	c.(5218-5220)CAa>GCa	p.Q1740A	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q826A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1740	Poly-Gln.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTGTGCttgttgttgttgttgt	0.53																																					p.Q1740P|p.Q1740E		Atlas-SNP	.											.	ZFHX3	404	.	0			c.A5219C|c.C5218G						.																																			SO:0001583	missense	463	exon9			GCTTGTTGTTGTT|CTTGTTGTTGTTG	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5218_5219delinsGC	chr16.hg19:g.72831362_72831363delinsGC	ENSP00000268489:p.Gln1740Ala	106.0|105.0	0.0		407.0|404.0	19.0|21.0	NM_006885	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	hg19	CCDS10908.1																																																																																			.	.		0.530	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
KCNJ12	3768	hgsc.bcm.edu	37	17	21319829	21319829	+	Missense_Mutation	SNP	C	C	A	rs541946650	byFrequency	TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr17:21319829C>A	ENST00000583088.1	+	3	2070	c.1175C>A	c.(1174-1176)gCg>gAg	p.A392E	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A392E	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	392					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GAGGATGAGGCGGACGGAGAC	0.657										Prostate(3;0.18)																											p.A392E		Atlas-SNP	.											.	.	.	.	0			c.C1175A						.						62.0	59.0	60.0					17																	21319829		2203	4300	6503	SO:0001583	missense	100134444	exon3			ATGAGGCGGACGG	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1175C>A	chr17.hg19:g.21319829C>A	ENSP00000463778:p.Ala392Glu	25.0	0.0		100.0	21.0	NM_001194958	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	hg19	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.504482	0.00992	.	.	ENSG00000184185	ENST00000331718	D	0.86694	-2.16	5.83	-1.89	0.07689	.	0.777035	0.12187	N	0.491524	T	0.51007	0.1649	N	0.00583	-1.355	0.24571	N	0.993925	B	0.02656	0.0	B	0.04013	0.001	T	0.55309	-0.8161	10	0.02654	T	1	.	1.7021	0.02874	0.3082:0.1572:0.0873:0.4473	.	392	Q14500	IRK12_HUMAN	E	392	ENSP00000328150:A392E	ENSP00000328150:A392E	A	+	2	0	KCNJ12	21260422	0.126000	0.22350	0.009000	0.14445	0.375000	0.29983	0.559000	0.23485	-0.590000	0.05866	-0.136000	0.14681	GCG	.	.		0.657	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
ARHGAP23	57636	hgsc.bcm.edu	37	17	36622999	36622999	+	Missense_Mutation	SNP	A	A	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr17:36622999A>T	ENST00000431231.2	+	7	1143	c.1075A>T	c.(1075-1077)Acc>Tcc	p.T359S	ARHGAP23_ENST00000437668.3_Missense_Mutation_p.T359S|ARHGAP23_ENST00000443378.1_Missense_Mutation_p.T265S	NM_001199417.1	NP_001186346.1	Q9P227	RHG23_HUMAN	Rho GTPase activating protein 23	359					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2)	20						GAGCCGGGCCACCCGTTCTGC	0.706																																					p.T359S		Atlas-SNP	.											.	ARHGAP23	48	.	0			c.A1075T						.						13.0	18.0	17.0					17																	36622999		691	1584	2275	SO:0001583	missense	57636	exon7			CGGGCCACCCGTT	AB040934	CCDS56027.1	17q12	2014-05-06			ENSG00000225485	ENSG00000275832		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	29293	protein-coding gene	gene with protein product		610590				10819331, 15254754	Standard	NM_001199417		Approved	KIAA1501	uc021twd.1	Q9P227	OTTHUMG00000188547	ENST00000431231.2:c.1075A>T	chr17.hg19:g.36622999A>T	ENSP00000393539:p.Thr359Ser	39.0	0.0		108.0	44.0	NM_001199417		Missense_Mutation	SNP	ENST00000431231.2	hg19	CCDS56027.1	.	.	.	.	.	.	.	.	.	.	A	1.530	-0.544574	0.04024	.	.	ENSG00000225485	ENST00000437668;ENST00000431231;ENST00000443378	T;T;T	0.13657	2.57;2.93;2.89	4.46	0.859	0.19036	.	.	.	.	.	T	0.04815	0.0130	N	0.08118	0	0.09310	N	1	B;B	0.21071	0.001;0.051	B;B	0.18561	0.001;0.022	T	0.43653	-0.9378	9	0.09590	T	0.72	.	2.4325	0.04475	0.4123:0.0:0.363:0.2247	.	359;359	Q9P227;Q9P227-2	RHG23_HUMAN;.	S	359;359;265	ENSP00000394153:T359S;ENSP00000393539:T359S;ENSP00000407333:T265S	ENSP00000393539:T359S	T	+	1	0	ARHGAP23	33876525	0.945000	0.32115	0.774000	0.31636	0.320000	0.28249	1.840000	0.39230	0.236000	0.21180	0.454000	0.30748	ACC	.	.		0.706	ARHGAP23-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441789.1	XM_290799	
GJC1	10052	hgsc.bcm.edu	37	17	42883077	42883077	+	Missense_Mutation	SNP	C	C	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr17:42883077C>G	ENST00000426548.1	-	3	378	c.109G>C	c.(109-111)Gct>Cct	p.A37P	GJC1_ENST00000330514.4_Missense_Mutation_p.A37P|GJC1_ENST00000590758.1_Missense_Mutation_p.A37P|GJC1_ENST00000592524.1_Missense_Mutation_p.A37P	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	37					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CCTCCTACAGCTGTAAGGACG	0.483																																					p.A37P		Atlas-SNP	.											.	GJC1	45	.	0			c.G109C						.						108.0	89.0	95.0					17																	42883077		2203	4300	6503	SO:0001583	missense	10052	exon3			CTACAGCTGTAAG	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.109G>C	chr17.hg19:g.42883077C>G	ENSP00000411528:p.Ala37Pro	139.0	0.0		230.0	96.0	NM_005497	B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	hg19	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230285	0.79688	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.99194	-5.54;-5.54	5.26	5.26	0.73747	Connexin, N-terminal (1);	0.056597	0.64402	D	0.000001	D	0.99299	0.9755	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99357	1.0916	10	0.66056	D	0.02	.	17.8787	0.88833	0.0:1.0:0.0:0.0	.	37	P36383	CXG1_HUMAN	P	37	ENSP00000411528:A37P;ENSP00000333193:A37P	ENSP00000333193:A37P	A	-	1	0	GJC1	40238603	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	7.818000	0.86416	2.458000	0.83093	0.455000	0.32223	GCT	.	.		0.483	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497	
PGS1	9489	hgsc.bcm.edu	37	17	76421607	76421607	+	IGR	SNP	A	A	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr17:76421607A>T	ENST00000262764.6	+	0	2201				DNAH17_ENST00000585328.1_Missense_Mutation_p.W4316R|DNAH17_ENST00000389840.5_Missense_Mutation_p.W4344R|DNAH17_ENST00000586052.1_5'UTR|AC061992.1_ENST00000600087.1_5'Flank	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CCGGCCAGCCACACGGTGGTG	0.592																																					p.W4321R	Esophageal Squamous(45;182 1126 10685 43198)	Atlas-SNP	.											.	DNAH17	347	.	0			c.T12961A						.						44.0	44.0	44.0					17																	76421607		2203	4300	6503	SO:0001628	intergenic_variant	8632	exon80			CCAGCCACACGGT		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8			chr17.hg19:g.76421607A>T		31.0	0.0		100.0	12.0	NM_173628	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	hg19	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.681642	0.88542	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.12569	2.67	4.85	4.85	0.62838	.	0.000000	0.51477	D	0.000095	T	0.59932	0.2230	H	0.99870	4.87	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.80018	-0.1558	10	0.87932	D	0	.	14.6095	0.68507	1.0:0.0:0.0:0.0	.	4316	E7EUM8	.	R	4316;4344	ENSP00000374490:W4344R	ENSP00000300671:W4316R	W	-	1	0	DNAH17	73933202	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.208000	0.95075	2.027000	0.59764	0.482000	0.46254	TGG	.	.		0.592	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419	
ENGASE	64772	hgsc.bcm.edu	37	17	77075702	77075702	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr17:77075702A>G	ENST00000579016.1	+	4	548	c.548A>G	c.(547-549)cAt>cGt	p.H183R	ENGASE_ENST00000539857.2_Intron	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	183						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GCCCACAGGCATGGGGTCTGC	0.597																																					p.H183R		Atlas-SNP	.											.	ENGASE	55	.	0			c.A548G						.						79.0	96.0	90.0					17																	77075702		2125	4219	6344	SO:0001583	missense	64772	exon4			ACAGGCATGGGGT	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.548A>G	chr17.hg19:g.77075702A>G	ENSP00000462333:p.His183Arg	65.0	0.0		197.0	82.0	NM_001042573	Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	hg19	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.178780	0.38511	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	5.22	5.22	0.72569	Glycoside hydrolase, family 85 (1);	0.162195	0.53938	D	0.000042	T	0.69378	0.3104	M	0.75085	2.285	0.80722	D	1	B;B	0.19817	0.031;0.039	B;B	0.29176	0.037;0.099	T	0.70189	-0.4940	9	0.72032	D	0.01	-7.8611	13.9551	0.64142	1.0:0.0:0.0:0.0	.	183;183	Q8NFI3;Q8NFI3-3	ENASE_HUMAN;.	R	183	.	ENSP00000308158:H183R	H	+	2	0	ENGASE	74587297	1.000000	0.71417	0.907000	0.35723	0.551000	0.35334	8.455000	0.90355	2.091000	0.63221	0.533000	0.62120	CAT	.	.		0.597	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759	
LRRC45	201255	hgsc.bcm.edu	37	17	79982609	79982609	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr17:79982609A>G	ENST00000306688.3	+	3	665	c.323A>G	c.(322-324)aAa>aGa	p.K108R	STRA13_ENST00000306704.6_5'Flank|STRA13_ENST00000392359.3_5'Flank|STRA13_ENST00000584347.1_5'Flank|STRA13_ENST00000583767.1_5'Flank|LRRC45_ENST00000583383.1_3'UTR|STRA13_ENST00000580435.1_5'Flank	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	108						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCTCTGGGAAAACTCCTCCAA	0.612																																					p.K108R		Atlas-SNP	.											.	LRRC45	22	.	0			c.A323G						.						56.0	61.0	60.0					17																	79982609		2202	4299	6501	SO:0001583	missense	201255	exon3			TGGGAAAACTCCT	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.323A>G	chr17.hg19:g.79982609A>G	ENSP00000306760:p.Lys108Arg	51.0	0.0		108.0	46.0	NM_144999		Missense_Mutation	SNP	ENST00000306688.3	hg19	CCDS11797.1	.	.	.	.	.	.	.	.	.	.	A	12.43	1.936767	0.34189	.	.	ENSG00000169683	ENST00000306688	T	0.53640	0.61	3.36	2.26	0.28386	.	0.282465	0.32343	N	0.006239	T	0.35393	0.0930	L	0.41961	1.31	0.36463	D	0.86679	P	0.35745	0.518	B	0.35182	0.197	T	0.28650	-1.0037	9	.	.	.	-5.6332	8.5755	0.33597	0.9045:0.0:0.0955:0.0	.	108	Q96CN5	LRC45_HUMAN	R	108	ENSP00000306760:K108R	.	K	+	2	0	LRRC45	77575898	1.000000	0.71417	0.688000	0.30117	0.835000	0.47333	2.765000	0.47621	0.480000	0.27534	0.379000	0.24179	AAA	.	.		0.612	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442058.1	NM_144999	
MBD3	53615	hgsc.bcm.edu	37	19	1578491	1578491	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:1578491C>A	ENST00000434436.3	-	6	853	c.724G>T	c.(724-726)Gcg>Tcg	p.A242S	MBD3_ENST00000156825.1_Missense_Mutation_p.A242S|MBD3_ENST00000590550.2_Missense_Mutation_p.A186S|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000592012.1_Missense_Mutation_p.A210S	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	242					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCATCAGCGCCTCCTCCAGC	0.667																																					p.A242S		Atlas-SNP	.											.	MBD3	22	.	0			c.G724T						.						70.0	72.0	71.0					19																	1578491		2203	4300	6503	SO:0001583	missense	53615	exon6			TCAGCGCCTCCTC	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.724G>T	chr19.hg19:g.1578491C>A	ENSP00000412302:p.Ala242Ser	39.0	0.0		98.0	20.0	NM_003926	A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	ENST00000434436.3	hg19	CCDS12072.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024505	0.93518	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.99194	-5.54	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	D	0.99290	0.9752	M	0.86864	2.845	0.58432	D	0.999998	D;D	0.67145	0.996;0.995	D;D	0.77557	0.99;0.988	D	0.98948	1.0793	10	0.87932	D	0	-40.5947	15.3787	0.74633	0.0:1.0:0.0:0.0	.	210;242	O95983-2;O95983	.;MBD3_HUMAN	S	210;242	ENSP00000156825:A242S	ENSP00000156825:A242S	A	-	1	0	MBD3	1529491	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.542000	0.82095	1.950000	0.56595	0.313000	0.20887	GCG	.	.		0.667	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926	
LONP1	9361	hgsc.bcm.edu	37	19	5699211	5699211	+	Silent	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:5699211G>A	ENST00000360614.3	-	10	1669	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	LONP1_ENST00000585374.1_Silent_p.F390F|LONP1_ENST00000593119.1_Silent_p.F440F|LONP1_ENST00000590729.1_Silent_p.F374F|LONP1_ENST00000540670.2_Silent_p.F308F	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAACGGCAATGAACTCCTGCA	0.637																																					p.S504S		Atlas-SNP	.											.	LONP1	66	.	0			c.C1512T						.						36.0	37.0	37.0					19																	5699211		2203	4300	6503	SO:0001819	synonymous_variant	9361	exon10			GGCAATGAACTCC	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1512C>T	chr19.hg19:g.5699211G>A		22.0	0.0		43.0	27.0	NM_004793		Silent	SNP	ENST00000360614.3	hg19	CCDS12148.1																																																																																			.	.		0.637	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793	
ZNF565	147929	hgsc.bcm.edu	37	19	36673862	36673862	+	Nonsense_Mutation	SNP	C	C	A	rs373289614	byFrequency	TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:36673862C>A	ENST00000355114.5	-	5	1852	c.1126G>T	c.(1126-1128)Gag>Tag	p.E376*	ZNF565_ENST00000392173.2_Nonsense_Mutation_p.E336*|ZNF565_ENST00000304116.5_Nonsense_Mutation_p.E336*			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TCCTTACACTCGTAGGGTTTC	0.478																																					p.E336X		Atlas-SNP	.											.	ZNF565	46	.	0			c.G1006T						.						74.0	66.0	69.0					19																	36673862		2203	4300	6503	SO:0001587	stop_gained	147929	exon5			TACACTCGTAGGG	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1126G>T	chr19.hg19:g.36673862C>A	ENSP00000347234:p.Glu376*	94.0	0.0		163.0	49.0	NM_001042474	B3KQ35|Q6NUS2	Nonsense_Mutation	SNP	ENST00000355114.5	hg19		.	.	.	.	.	.	.	.	.	.	c	12.69	2.013646	0.35511	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	.	.	.	4.7	2.51	0.30379	.	0.000000	0.37623	N	0.002020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	3.5117	0.07710	0.1745:0.5636:0.1691:0.0927	.	.	.	.	X	336;336;376	.	ENSP00000306869:E336X	E	-	1	0	ZNF565	41365702	0.000000	0.05858	0.997000	0.53966	0.013000	0.08279	-2.003000	0.01463	0.679000	0.31345	-0.142000	0.14014	GAG	.	.		0.478	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477	
WDR87	83889	hgsc.bcm.edu	37	19	38378936	38378936	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:38378936T>A	ENST00000303868.5	-	6	5482	c.5258A>T	c.(5257-5259)gAg>gTg	p.E1753V	WDR87_ENST00000447313.2_Missense_Mutation_p.E1792V	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1753	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						CAATGCCTCCTCTTCCTCAGC	0.488																																					p.E1753V		Atlas-SNP	.											.	WDR87	191	.	0			c.A5258T						.						130.0	105.0	113.0					19																	38378936		692	1591	2283	SO:0001583	missense	83889	exon6			GCCTCCTCTTCCT	AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.5258A>T	chr19.hg19:g.38378936T>A	ENSP00000368025:p.Glu1753Val	329.0	0.0		359.0	121.0	NM_031951	Q9BWV9	Missense_Mutation	SNP	ENST00000303868.5	hg19	CCDS46063.1	.	.	.	.	.	.	.	.	.	.	t	12.16	1.854922	0.32791	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.22743	1.94;1.94	5.09	1.56	0.23342	.	.	.	.	.	T	0.12944	0.0314	L	0.29908	0.895	0.09310	N	1	P;P	0.43857	0.819;0.819	B;B	0.39876	0.312;0.312	T	0.14980	-1.0453	9	0.48119	T	0.1	.	3.1689	0.06545	0.2983:0.1747:0.0:0.527	.	1753;1792	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	V	1792;1753	ENSP00000405012:E1792V;ENSP00000368025:E1753V	ENSP00000368025:E1753V	E	-	2	0	WDR87	43070776	0.000000	0.05858	0.042000	0.18584	0.044000	0.14063	-0.070000	0.11523	0.347000	0.23924	0.439000	0.28862	GAG	.	.		0.488	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314628.2	XM_940478	
ZFP36	7538	hgsc.bcm.edu	37	19	39898413	39898413	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:39898413G>T	ENST00000248673.3	+	2	113	c.55G>T	c.(55-57)Gtg>Ttg	p.V19L	ZFP36_ENST00000597629.1_Missense_Mutation_p.V25L|ZFP36_ENST00000594045.1_3'UTR|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	19					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGACGTGCCCGTGCCATCCGA	0.672																																					p.V25L	NSCLC(67;1164 1324 12056 21056 30097)	Atlas-SNP	.											.	ZFP36	19	.	0			c.G73T						.						95.0	106.0	102.0					19																	39898413		2202	4298	6500	SO:0001583	missense	7538	exon2			GTGCCCGTGCCAT	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.55G>T	chr19.hg19:g.39898413G>T	ENSP00000248673:p.Val19Leu	24.0	0.0		72.0	18.0	NM_003407	B2RA54	Missense_Mutation	SNP	ENST00000248673.3	hg19		.	.	.	.	.	.	.	.	.	.	G	0.765	-0.767704	0.02974	.	.	ENSG00000128016	ENST00000248673	T	0.17370	2.28	3.88	-3.28	0.05033	.	6.637530	0.02098	U	0.053685	T	0.07188	0.0182	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22487	-1.0215	10	0.15066	T	0.55	.	2.8173	0.05459	0.2725:0.3503:0.2862:0.091	.	19	P26651	TTP_HUMAN	L	19	ENSP00000248673:V19L	ENSP00000248673:V19L	V	+	1	0	ZFP36	44590253	0.004000	0.15560	0.009000	0.14445	0.012000	0.07955	1.431000	0.34925	-0.273000	0.09246	-0.362000	0.07510	GTG	.	.		0.672	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
B9D2	80776	hgsc.bcm.edu	37	19	41860879	41860879	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:41860879C>A	ENST00000243578.3	-	4	473	c.254G>T	c.(253-255)aGc>aTc	p.S85I	CTC-435M10.3_ENST00000604424.1_Intron|TGFB1_ENST00000221930.5_5'Flank|TMEM91_ENST00000539627.1_Intron|TMEM91_ENST00000604123.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	85	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)			large_intestine(1)|ovary(1)	2						GCGGCCAAAGCTGTCCTGGGA	0.652																																					p.S85I		Atlas-SNP	.											.	B9D2	9	.	0			c.G254T						.						11.0	12.0	12.0					19																	41860879		2198	4289	6487	SO:0001583	missense	80776	exon4			CCAAAGCTGTCCT	BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9		ENST00000243578.3:c.254G>T	chr19.hg19:g.41860879C>A	ENSP00000243578:p.Ser85Ile	32.0	0.0		72.0	43.0	NM_030578		Missense_Mutation	SNP	ENST00000243578.3	hg19	CCDS12579.1	.	.	.	.	.	.	.	.	.	.	c	12.43	1.935294	0.34189	.	.	ENSG00000123810	ENST00000243578	T	0.72167	-0.63	4.04	2.93	0.34026	.	0.260739	0.36555	N	0.002532	T	0.61324	0.2338	M	0.62723	1.935	0.40152	D	0.976961	B	0.13145	0.007	B	0.10450	0.005	T	0.56347	-0.7994	10	0.20519	T	0.43	.	7.5486	0.27781	0.1623:0.5428:0.2949:0.0	.	85	Q9BPU9	B9D2_HUMAN	I	85	ENSP00000243578:S85I	ENSP00000243578:S85I	S	-	2	0	B9D2	46552719	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.127000	0.42035	2.081000	0.62600	0.457000	0.33378	AGC	.	.		0.652	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463489.1	NM_030578	
KDELR1	10945	hgsc.bcm.edu	37	19	48886580	48886580	+	Silent	SNP	T	T	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:48886580T>C	ENST00000330720.2	-	5	803	c.609A>G	c.(607-609)ctA>ctG	p.L203L	KDELR1_ENST00000597017.1_Silent_p.L141L	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	203					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		TCTTCCCCTTTAGGACTGTGA	0.622																																					p.L203L		Atlas-SNP	.											.	KDELR1	26	.	0			c.A609G						.						31.0	24.0	26.0					19																	48886580		2144	4148	6292	SO:0001819	synonymous_variant	10945	exon5			CCCCTTTAGGACT	X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.609A>G	chr19.hg19:g.48886580T>C		49.0	0.0		107.0	56.0	NM_006801	B2R6N4|Q54A39|Q8NBW7	Silent	SNP	ENST00000330720.2	hg19	CCDS12718.1																																																																																			.	.		0.622	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465708.1		
NLRP2	55655	hgsc.bcm.edu	37	19	55493601	55493601	+	Missense_Mutation	SNP	A	A	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:55493601A>T	ENST00000543010.1	+	6	678	c.535A>T	c.(535-537)Agc>Tgc	p.S179C	NLRP2_ENST00000537859.1_Missense_Mutation_p.S157C|NLRP2_ENST00000263437.6_Missense_Mutation_p.S176C|NLRP2_ENST00000427260.2_Missense_Mutation_p.S156C|NLRP2_ENST00000448584.2_Missense_Mutation_p.S179C|NLRP2_ENST00000339757.7_Missense_Mutation_p.S157C|NLRP2_ENST00000538819.1_Missense_Mutation_p.S155C|NLRP2_ENST00000391721.4_Missense_Mutation_p.S155C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	179					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCCTGGAGATAGCAAAGAGGT	0.507																																					p.S179C		Atlas-SNP	.											.	NLRP2	161	.	0			c.A535T						.						160.0	172.0	168.0					19																	55493601		2203	4300	6503	SO:0001583	missense	55655	exon6			GGAGATAGCAAAG	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.535A>T	chr19.hg19:g.55493601A>T	ENSP00000445135:p.Ser179Cys	104.0	0.0		239.0	124.0	NM_017852	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	hg19	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475578	0.26511	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.74737	-0.82;-0.74;-0.77;-0.82;-0.77;-0.87;-0.74;0.5	2.05	-2.01	0.07410	.	1.244490	0.06057	N	0.657629	T	0.68933	0.3055	N	0.24115	0.695	0.09310	N	1	D;D;D;D;D	0.76494	0.991;0.998;0.996;0.995;0.999	P;P;P;P;P	0.61722	0.706;0.893;0.784;0.846;0.864	T	0.56432	-0.7980	10	0.54805	T	0.06	.	0.136	0.00078	0.3483:0.2418:0.1717:0.2383	.	156;157;176;155;179	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	C	179;155;157;179;157;156;155;176	ENSP00000445135:S179C;ENSP00000375601:S155C;ENSP00000344074:S157C;ENSP00000409370:S179C;ENSP00000440601:S157C;ENSP00000402474:S156C;ENSP00000441133:S155C;ENSP00000263437:S176C	ENSP00000263437:S176C	S	+	1	0	NLRP2	60185413	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.155000	0.10115	-0.629000	0.05575	0.402000	0.26972	AGC	.	.		0.507	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
ZIK1	284307	hgsc.bcm.edu	37	19	58101688	58101688	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:58101688G>T	ENST00000597850.1	+	4	724	c.509G>T	c.(508-510)tGg>tTg	p.W170L	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.W115L|ZIK1_ENST00000536878.2_Missense_Mutation_p.W157L	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTCGCAAATGGGAGGTTGGA	0.502																																					p.W170L		Atlas-SNP	.											.	ZIK1	94	.	0			c.G509T						.						74.0	69.0	71.0					19																	58101688		2203	4300	6503	SO:0001583	missense	284307	exon4			GCAAATGGGAGGT	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.509G>T	chr19.hg19:g.58101688G>T	ENSP00000472867:p.Trp170Leu	83.0	0.0		147.0	49.0	NM_001010879	O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	hg19	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	G	2.446	-0.327465	0.05350	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.04654	3.58	2.97	-5.94	0.02247	.	.	.	.	.	T	0.01254	0.0041	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44982	-0.9292	9	0.27785	T	0.31	.	1.8751	0.03217	0.4707:0.136:0.2556:0.1377	.	157;170	F5H435;Q3SY52	.;ZIK1_HUMAN	L	157;151;170	ENSP00000438487:W157L	ENSP00000303820:W170L	W	+	2	0	ZIK1	62793500	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	-0.344000	0.07780	-1.595000	0.01613	-1.626000	0.00786	TGG	.	.		0.502	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879	
ADRA1D	146	hgsc.bcm.edu	37	20	4202228	4202229	+	Missense_Mutation	DNP	GC	GC	TT	rs371559421		TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr20:4202228_4202229GC>TT	ENST00000379453.4	-	2	1776_1777	c.1660_1661GC>AA	c.(1660-1662)GCc>AAc	p.A554N		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	554				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CTGGCAGGTGGCGCCCTCGGCC	0.688																																					p.A554D|p.A554T		Atlas-SNP	.											.	ADRA1D	36	.	0			c.C1661A|c.G1660A						.																																			SO:0001583	missense	146	exon2			CAGGTGGCGCCCT|AGGTGGCGCCCTC	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1660_1661delinsTT	chr20.hg19:g.4202228_4202229delinsTT	ENSP00000368766:p.Ala554Asn	62.0|60.0	0.0		236.0	102.0	NM_000678	Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	hg19	CCDS13079.1																																																																																			.	.		0.688	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678	
BMP7	655	hgsc.bcm.edu	37	20	55840845	55840845	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr20:55840845T>A	ENST00000395863.3	-	1	839	c.334A>T	c.(334-336)Agt>Tgt	p.S112C	BMP7_ENST00000450594.2_Missense_Mutation_p.S112C|BMP7_ENST00000395864.3_Missense_Mutation_p.S112C|RP4-813D12.3_ENST00000412321.1_lincRNA	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	112					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|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 peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CCCTGGGTACTGAAGACGGCC	0.647																																					p.S112C		Atlas-SNP	.											.	BMP7	60	.	0			c.A334T						.						24.0	24.0	24.0					20																	55840845		2202	4299	6501	SO:0001583	missense	655	exon1			GGGTACTGAAGAC		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.334A>T	chr20.hg19:g.55840845T>A	ENSP00000379204:p.Ser112Cys	61.0	0.0		177.0	79.0	NM_001719	Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	hg19	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595492	0.46318	.	.	ENSG00000101144	ENST00000395863;ENST00000395864;ENST00000450594	T;T;T	0.68479	-0.33;-0.33;-0.33	5.04	5.04	0.67666	Transforming growth factor-beta, N-terminal (1);	0.090404	0.85682	D	0.000000	T	0.69958	0.3169	L	0.49126	1.545	0.38758	D	0.954257	D;B;B	0.54601	0.967;0.21;0.049	P;B;B	0.51055	0.657;0.057;0.051	T	0.76321	-0.3002	10	0.72032	D	0.01	.	14.7775	0.69740	0.0:0.0:0.0:1.0	.	112;112;112	B1AKZ9;P18075;B1AL00	.;BMP7_HUMAN;.	C	112	ENSP00000379204:S112C;ENSP00000379205:S112C;ENSP00000398687:S112C	ENSP00000379204:S112C	S	-	1	0	BMP7	55274252	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	2.865000	0.48412	1.873000	0.54277	0.402000	0.26972	AGT	.	.		0.647	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2		
TLR7	51284	hgsc.bcm.edu	37	X	12904609	12904609	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chrX:12904609A>G	ENST00000380659.3	+	3	1121	c.982A>G	c.(982-984)Aaa>Gaa	p.K328E		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	328					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CTTCTTGGCCAAAGAAATTGG	0.418																																					p.K328E		Atlas-SNP	.											.	TLR7	125	.	0			c.A982G						.						72.0	71.0	72.0					X																	12904609		2203	4299	6502	SO:0001583	missense	51284	exon3			TTGGCCAAAGAAA	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.982A>G	chrX.hg19:g.12904609A>G	ENSP00000370034:p.Lys328Glu	86.0	0.0		95.0	82.0	NM_016562	D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	hg19	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.511550	0.44660	.	.	ENSG00000196664	ENST00000380659	T	0.02395	4.31	5.65	5.65	0.86999	.	0.186695	0.46145	D	0.000308	T	0.03959	0.0111	L	0.46157	1.445	0.34566	D	0.712874	B	0.16396	0.017	B	0.19946	0.027	T	0.17715	-1.0360	10	0.44086	T	0.13	.	10.1847	0.42991	0.8494:0.0:0.0:0.1506	.	328	Q9NYK1	TLR7_HUMAN	E	328	ENSP00000370034:K328E	ENSP00000370034:K328E	K	+	1	0	TLR7	12814530	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.094000	0.71431	1.891000	0.54761	0.486000	0.48141	AAA	.	.		0.418	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562	
MORF4L2	9643	hgsc.bcm.edu	37	X	102931737	102931737	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chrX:102931737C>A	ENST00000441076.2	-	4	523	c.219G>T	c.(217-219)agG>agT	p.R73S	MORF4L2_ENST00000451301.1_Missense_Mutation_p.R73S|MORF4L2_ENST00000423833.2_Missense_Mutation_p.R73S|MORF4L2_ENST00000433176.2_Missense_Mutation_p.R73S|MORF4L2_ENST00000360458.1_Missense_Mutation_p.R73S|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000422154.2_Missense_Mutation_p.R73S	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	73					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						TTCTGGTCTTCCTCACGGATC	0.567																																					p.R73S		Atlas-SNP	.											.	MORF4L2	35	.	0			c.G219T						.						66.0	57.0	60.0					X																	102931737		2203	4300	6503	SO:0001583	missense	9643	exon5			GGTCTTCCTCACG	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.219G>T	chrX.hg19:g.102931737C>A	ENSP00000391969:p.Arg73Ser	82.0	0.0		219.0	206.0	NM_001142422	B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	hg19	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	C	9.773	1.173156	0.21704	.	.	ENSG00000123562	ENST00000360458;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819;ENST00000442614	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	4.52	3.66	0.41972	.	0.109692	0.38837	N	0.001545	T	0.15089	0.0364	N	0.24115	0.695	0.34938	D	0.749982	B	0.26081	0.141	B	0.18263	0.021	T	0.15607	-1.0431	10	0.07482	T	0.82	-16.8622	7.308	0.26459	0.0:0.8813:0.0:0.1187	.	73	Q15014	MO4L2_HUMAN	S	73;73;73;73;55;73;73;73;73;73	ENSP00000353643:R73S;ENSP00000415476:R73S;ENSP00000394417:R73S;ENSP00000410532:R73S;ENSP00000391969:R73S;ENSP00000416120:R73S	ENSP00000353643:R73S	R	-	3	2	MORF4L2	102818393	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.687000	0.46976	1.244000	0.43870	0.600000	0.82982	AGG	.	.		0.567	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286	
ZFP92	139735	hgsc.bcm.edu	37	X	152685756	152685756	+	Silent	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chrX:152685756C>T	ENST00000338647.5	+	3	232	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_001136273.1	NP_001129745.1	A6NM28	ZFP92_HUMAN	ZFP92 zinc finger protein	77	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)	6						TAGCAGACATCCCCAGAACCT	0.557																																					p.I77I		Atlas-SNP	.											.	ZFP92	26	.	0			c.C231T						.						82.0	65.0	70.0					X																	152685756		692	1591	2283	SO:0001819	synonymous_variant	139735	exon3			AGACATCCCCAGA	U82695	CCDS59177.1	Xq28	2013-01-08	2012-11-27		ENSG00000189420	ENSG00000189420		"""Zinc fingers, C2H2-type"", ""-"""	12865	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp92 in mouse"", ""zinc finger protein 92 homolog (mouse)"""				Standard	NM_001136273		Approved	ZNF897	uc011myo.2	A6NM28	OTTHUMG00000024198	ENST00000338647.5:c.231C>T	chrX.hg19:g.152685756C>T		65.0	0.0		307.0	291.0	NM_001136273		Silent	SNP	ENST00000338647.5	hg19	CCDS59177.1																																																																																			.	.		0.557	ZFP92-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332220.2		
RAI14	26064	hgsc.bcm.edu	37	5	34826481	34826482	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr5:34826481_34826482insC	ENST00000265109.3	+	16	2983_2984	c.2696_2697insC	c.(2695-2700)aacagcfs	p.S900fs	RAI14_ENST00000503673.1_Frame_Shift_Ins_p.S900fs|RAI14_ENST00000515799.1_Frame_Shift_Ins_p.S903fs|RAI14_ENST00000397449.1_Frame_Shift_Ins_p.S893fs|RAI14_ENST00000428746.2_Frame_Shift_Ins_p.S900fs|RAI14_ENST00000512629.1_Frame_Shift_Ins_p.S871fs|RAI14_ENST00000506376.1_Frame_Shift_Ins_p.S892fs	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	900						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GAGGCCTTGAACAGCCTCTCCC	0.485																																					p.N902fs		Atlas-INDEL	.											RAI14,NS,carcinoma,0,1	RAI14	100	.	0			c.2705_2706insC						.																																			SO:0001589	frameshift_variant	26064	exon18			.	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2697dupC	chr5.hg19:g.34826482_34826482dupC	ENSP00000265109:p.Ser900fs	86.0	0.0		298.0	19.0	NM_001145525	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Frame_Shift_Ins	INS	ENST00000265109.3	hg19	CCDS34142.1																																																																																			.	.		0.485	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
ZNF395	55893	hgsc.bcm.edu	37	8	28210928	28210928	+	Intron	DEL	G	G	-			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr8:28210928delG	ENST00000344423.5	-	5	715				ZNF395_ENST00000523202.1_Intron|ZNF395_ENST00000523095.1_Intron	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		ACGGGAAGCTGGCCAGATGAA	0.587																																					.		Atlas-Indel,Pindel	.											.	ZNF395	54	.	0			c.584-2C>-						.						17.0	15.0	16.0					8																	28210928		2203	4299	6502	SO:0001627	intron_variant	55893	exon6			.	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.584-3C>-	chr8.hg19:g.28210928delG		55.0	0.0		164.0	80.0	NM_018660	B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Splice_Site	DEL	ENST00000344423.5	hg19	CCDS6067.1																																																																																			.	.		0.587	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1		
PLCG1	5335	hgsc.bcm.edu	37	20	39792450	39792451	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr20:39792450_39792451insT	ENST00000373271.1	+	10	1392_1393	c.987_988insT	c.(988-990)tggfs	p.W330fs	PLCG1_ENST00000244007.3_Frame_Shift_Ins_p.W330fs|PLCG1_ENST00000373272.2_Frame_Shift_Ins_p.W330fs	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	330	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TTTCCCACTACTGGATCTCCTC	0.559																																					p.Y329fs		Atlas-Indel,Pindel	.											.	PLCG1	111	.	0			c.987_988insT						.																																			SO:0001589	frameshift_variant	5335	exon10			.	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.988dupT	chr20.hg19:g.39792451_39792451dupT	ENSP00000362368:p.Trp330fs	112.0	0.0		353.0	140.0	NM_182811	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Frame_Shift_Ins	INS	ENST00000373271.1	hg19	CCDS13314.1																																																																																			.	.		0.559	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
NFYA	4800	hgsc.bcm.edu	37	6	41065105	41065106	+	Frame_Shift_Ins	INS	-	-	A	rs79078414		TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr6:41065105_41065106insA	ENST00000341376.6	+	10	1201_1202	c.1000_1001insA	c.(1000-1002)caafs	p.Q334fs	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Frame_Shift_Ins_p.Q305fs	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	334					cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGATCCAAACCAAGCCGATGAA	0.45																																					p.Q334fs		Atlas-INDEL	.											.	NFYA	33	.	0			c.1000_1001insA						.																																			SO:0001589	frameshift_variant	4800	exon10			.		CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.1002dupA	chr6.hg19:g.41065107_41065107dupA	ENSP00000345702:p.Gln334fs	144.0	0.0		264.0	16.0	NM_002505	Q8IXU0	Frame_Shift_Ins	INS	ENST00000341376.6	hg19	CCDS4849.1																																																																																			.	.		0.450	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1		
PITPNM3	83394	hgsc.bcm.edu	37	17	6360967	6360970	+	Frame_Shift_Del	DEL	AGGC	AGGC	-			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	AGGC	AGGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr17:6360967_6360970delAGGC	ENST00000262483.8	-	19	2650_2653	c.2563_2566delGCCT	c.(2563-2568)gcctccfs	p.AS855fs	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Frame_Shift_Del_p.AS819fs	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	855					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AAGATCTGGGAGGCAGGCAGGCCC	0.613																																					p.855_856del		Atlas-Indel,Pindel	.											.	PITPNM3	91	.	0			c.2564_2567del						.																																			SO:0001589	frameshift_variant	83394	exon19			.	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2563_2566delGCCT	chr17.hg19:g.6360975_6360978delAGGC	ENSP00000262483:p.Ala855fs	52.0	0.0		54.0	41.0	NM_031220	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Frame_Shift_Del	DEL	ENST00000262483.8	hg19	CCDS11076.1																																																																																			.	.		0.613	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220	
QSOX2	169714	hgsc.bcm.edu	37	9	139108510	139108511	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr9:139108510_139108511insC	ENST00000358701.5	-	9	1181_1182	c.1144_1145insG	c.(1144-1146)gccfs	p.A382fs		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	382					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GGGAAGGCTGGCCAGCCACTCC	0.624																																					p.A382fs		Atlas-INDEL	.											.	QSOX2	63	.	0			c.1145_1146insG						.																																			SO:0001589	frameshift_variant	169714	exon9			.	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1145dupG	chr9.hg19:g.139108512_139108512dupC	ENSP00000351536:p.Ala382fs	33.0	0.0		119.0	13.0	NM_181701	A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Frame_Shift_Ins	INS	ENST00000358701.5	hg19	CCDS35178.1																																																																																			.	.		0.624	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701	
GSE1	23199	hgsc.bcm.edu	37	16	85687939	85687940	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	CG	CG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr16:85687939_85687940delCG	ENST00000253458.7	+	4	658_659	c.482_483delCG	c.(481-483)ccgfs	p.P161fs	GSE1_ENST00000405402.2_Frame_Shift_Del_p.P57fs|GSE1_ENST00000393243.1_Frame_Shift_Del_p.P88fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	161																	GTGGAGCCCCCGCTCCCTCAGG	0.673																																					p.161_161del		Atlas-Indel,Pindel	.											.	.	.	.	0			c.481_482del						.																																			SO:0001589	frameshift_variant	23199	exon4			.	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.482_483delCG	chr16.hg19:g.85687939_85687940delCG	ENSP00000253458:p.Pro161fs	93.0	0.0		147.0	121.0	NM_014615	D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Del	DEL	ENST00000253458.7	hg19	CCDS10952.1																																																																																			.	.		0.673	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615	
HEATR2	54919	hgsc.bcm.edu	37	7	769380	769381	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr7:769380_769381insC	ENST00000297440.6	+	2	696_697	c.676_677insC	c.(676-678)gccfs	p.A226fs	PRKAR1B_ENST00000537384.1_5'Flank|PRKAR1B_ENST00000403562.1_5'Flank|HEATR2_ENST00000313147.5_Frame_Shift_Ins_p.A226fs|HEATR2_ENST00000438961.1_3'UTR|PRKAR1B_ENST00000488474.1_5'Flank	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	226						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GGTCCGTGTGGCCGCCATTGAA	0.599																																					p.A226fs		Atlas-INDEL	.											.	HEATR2	62	.	0			c.676_677insC						.																																			SO:0001589	frameshift_variant	54919	exon2			.	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.678dupC	chr7.hg19:g.769382_769382dupC	ENSP00000297440:p.Ala226fs	56.0	0.0		226.0	15.0	NM_017802	Q69YL1|Q96FI9|Q9NX75	Frame_Shift_Ins	INS	ENST00000297440.6	hg19	CCDS34580.1																																																																																			.	.		0.599	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802	
UBXN7	26043	hgsc.bcm.edu	37	3	196134222	196134222	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr3:196134222delT	ENST00000296328.4	-	2	190	c.116delA	c.(115-117)aacfs	p.N41fs	UBXN7_ENST00000535858.1_Intron|UBXN7_ENST00000428095.1_Intron	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	41						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CAGATTATTGTTGCACGCTTC	0.403																																					p.N39fs		Atlas-Indel,Pindel	.											.	UBXN7	43	.	0			c.117delC						.						190.0	175.0	180.0					3																	196134222		1903	4118	6021	SO:0001589	frameshift_variant	26043	exon2			.	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.116delA	chr3.hg19:g.196134222delT	ENSP00000296328:p.Asn41fs	196.0	0.0		278.0	93.0	NM_015562	D3DXB3|Q6ZP77|Q86X20|Q8N327	Frame_Shift_Del	DEL	ENST00000296328.4	hg19	CCDS43191.1																																																																																			.	.		0.403	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353	
