#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
ARID1A	8289	hgsc.bcm.edu	37	1	27023908	27023908	+	Silent	SNP	G	G	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr1:27023908G>A	ENST00000324856.7	+	1	1385	c.1014G>A	c.(1012-1014)ggG>ggA	p.G338G	ARID1A_ENST00000457599.2_Silent_p.G338G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	338					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.A339fs*24(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGTGTTGGGGggctgcggcgg	0.801			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.G338G		Atlas-SNP	.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.,1	ARID1A	842	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.G1014A						.						1.0	1.0	1.0					1																	27023908		519	1451	1970	SO:0001819	synonymous_variant	8289	exon1			TTGGGGGGCTGCG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1014G>A	chr1.hg19:g.27023908G>A		10.0	0.0		11.0	5.0	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	hg19	CCDS285.1																																																																																			.	.		0.801	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
CSMD2	114784	hgsc.bcm.edu	37	1	34089022	34089022	+	Silent	SNP	C	C	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr1:34089022C>T	ENST00000373380.1	-	15	2509	c.2289G>A	c.(2287-2289)ctG>ctA	p.L763L	CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373381.4_Silent_p.L1890L|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1850	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAAATACTTCCAGCGAGTCCC	0.502																																					p.L1850L		Atlas-SNP	.											.	CSMD2	946	.	0			c.G5550A						.						127.0	111.0	117.0					1																	34089022		2203	4300	6503	SO:0001819	synonymous_variant	114784	exon36			TACTTCCAGCGAG	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2289G>A	chr1.hg19:g.34089022C>T		117.0	0.0		121.0	43.0	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	hg19																																																																																				.	.		0.502	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896	
NRD1	4898	hgsc.bcm.edu	37	1	52303276	52303276	+	Missense_Mutation	SNP	A	A	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr1:52303276A>C	ENST00000354831.7	-	3	836	c.647T>G	c.(646-648)tTt>tGt	p.F216C	NRD1_ENST00000544028.1_Intron|NRD1_ENST00000352171.7_Intron|MIR761_ENST00000390787.1_RNA|NRD1_ENST00000539524.1_Missense_Mutation_p.F84C|NRD1_ENST00000485608.1_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CCACAGCAAAAACAGGCTCTG	0.353																																					p.F216C		Atlas-SNP	.											.	NRD1	89	.	0			c.T647G						.						78.0	79.0	79.0					1																	52303276		2203	4300	6503	SO:0001583	missense	4898	exon3			AGCAAAAACAGGC	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.647T>G	chr1.hg19:g.52303276A>C	ENSP00000346890:p.Phe216Cys	59.0	0.0		90.0	33.0	NM_002525	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	hg19	CCDS559.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.884446	0.33255	.	.	ENSG00000078618	ENST00000354831;ENST00000539524	T;T	0.38077	1.16;1.28	4.76	2.18	0.27775	.	0.614781	0.16279	N	0.221447	T	0.15219	0.0367	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07673	-1.0760	10	0.20519	T	0.43	-6.5935	4.9061	0.13799	0.6169:0.1954:0.0:0.1877	.	216	B1AKJ5	.	C	216;84	ENSP00000346890:F216C;ENSP00000444416:F84C	ENSP00000346890:F216C	F	-	2	0	NRD1	52075864	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.903000	0.28475	0.901000	0.36495	0.533000	0.62120	TTT	.	.		0.353	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	
WDR78	79819	hgsc.bcm.edu	37	1	67371059	67371059	+	Splice_Site	SNP	C	C	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr1:67371059C>T	ENST00000371026.3	-	2	226		c.e2-1		WDR78_ENST00000431318.1_Splice_Site|WDR78_ENST00000371022.3_Splice_Site|WDR78_ENST00000371023.3_Splice_Site|WDR78_ENST00000488333.1_Splice_Site	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78						hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GGCATTGTTCCTATATAAGAA	0.303																																					.		Atlas-SNP	.											.	WDR78	102	.	0			c.171-1G>A						.						65.0	64.0	64.0					1																	67371059		2203	4300	6503	SO:0001630	splice_region_variant	79819	exon3			TTGTTCCTATATA	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.171-1G>A	chr1.hg19:g.67371059C>T		77.0	0.0		62.0	26.0	NM_024763	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Splice_Site	SNP	ENST00000371026.3	hg19	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	4.447	0.082795	0.08533	.	.	ENSG00000152763	ENST00000371026;ENST00000371023;ENST00000371022	.	.	.	4.1	3.19	0.36642	.	.	.	.	.	.	.	.	.	.	.	0.24560	N	0.993973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9488	0.30001	0.0:0.8907:0.0:0.1093	.	.	.	.	.	-1	.	.	.	-	.	.	WDR78	67143647	0.228000	0.23718	0.003000	0.11579	0.001000	0.01503	0.911000	0.28584	1.324000	0.45282	-0.266000	0.10368	.	.	.		0.303	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763	Intron
COL11A1	1301	hgsc.bcm.edu	37	1	103491838	103491838	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr1:103491838C>A	ENST00000370096.3	-	6	1143	c.831G>T	c.(829-831)gaG>gaT	p.E277D	COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Missense_Mutation_p.E277D|COL11A1_ENST00000358392.2_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	277	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTCTTTATACTCTGCTTCCC	0.418																																					p.E277D		Atlas-SNP	.											.	COL11A1	972	.	0			c.G831T						.						238.0	208.0	218.0					1																	103491838		2203	4300	6503	SO:0001583	missense	1301	exon6			TTTATACTCTGCT	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.831G>T	chr1.hg19:g.103491838C>A	ENSP00000359114:p.Glu277Asp	124.0	0.0		116.0	35.0	NM_001854	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	hg19	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586806	0.28268	.	.	ENSG00000060718	ENST00000370096;ENST00000512756	D;D	0.88124	-2.32;-2.34	5.39	-9.67	0.00531	.	.	.	.	.	T	0.32010	0.0815	N	0.01168	-0.975	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09335	-1.0679	9	0.12766	T	0.61	.	1.7358	0.02941	0.203:0.3332:0.2874:0.1765	.	277;277	E9PCU0;P12107	.;COBA1_HUMAN	D	277	ENSP00000359114:E277D;ENSP00000426533:E277D	ENSP00000359114:E277D	E	-	3	2	COL11A1	103264426	0.042000	0.20092	0.958000	0.39756	0.990000	0.78478	-1.177000	0.03096	-1.032000	0.03304	-0.311000	0.09066	GAG	.	.		0.418	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
MAGI3	260425	hgsc.bcm.edu	37	1	114225757	114225757	+	Missense_Mutation	SNP	A	A	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr1:114225757A>C	ENST00000307546.9	+	21	3642	c.3567A>C	c.(3565-3567)aaA>aaC	p.K1189N	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1214					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTCCAGAAAAATGTGAGTA	0.378																																					p.K1189N		Atlas-SNP	.											.	MAGI3	181	.	0			c.A3567C						.						74.0	70.0	71.0					1																	114225757		1568	3582	5150	SO:0001583	missense	260425	exon21			CCAGAAAAATGTG	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3567A>C	chr1.hg19:g.114225757A>C	ENSP00000304604:p.Lys1189Asn	192.0	0.0		229.0	85.0	NM_001142782	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	hg19	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.664503	0.47572	.	.	ENSG00000081026	ENST00000307546;ENST00000546156	T	0.53206	0.63	5.54	5.54	0.83059	.	0.074069	0.56097	D	0.000038	T	0.17874	0.0429	L	0.27053	0.805	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.11348	-1.0591	10	0.46703	T	0.11	.	6.9564	0.24574	0.7723:0.1514:0.0764:0.0	.	1189	Q5TCQ9-4	.	N	1189;229	ENSP00000304604:K1189N	ENSP00000304604:K1189N	K	+	3	2	MAGI3	114027280	0.995000	0.38212	0.938000	0.37757	0.975000	0.68041	1.134000	0.31442	2.230000	0.72887	0.455000	0.32223	AAA	.	.		0.378	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900	
S100A7A	338324	hgsc.bcm.edu	37	1	153390690	153390690	+	Silent	SNP	C	C	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr1:153390690C>T	ENST00000368729.4	+	2	189	c.132C>T	c.(130-132)ctC>ctT	p.L44L	S100A7A_ENST00000329256.2_Silent_p.L44L|S100A7A_ENST00000368728.2_Silent_p.L44L	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	44	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)	p.L44L(1)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAATTTCCTCAGTGCCTGTG	0.498																																					p.L44L		Atlas-SNP	.											S100A7A,NS,carcinoma,0,1	S100A7A	24	.	1	Substitution - coding silent(1)	endometrium(1)	c.C132T						.						163.0	144.0	150.0					1																	153390690		2203	4300	6503	SO:0001819	synonymous_variant	338324	exon2			TTTCCTCAGTGCC	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	21657	protein-coding gene	gene with protein product			"""S100 calcium binding protein A15"", ""S100 calcium binding protein A7-like 1"""	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.132C>T	chr1.hg19:g.153390690C>T		76.0	1.0		144.0	14.0	NM_176823	D3DV38|Q5SY69	Silent	SNP	ENST00000368729.4	hg19	CCDS30872.1																																																																																			.	.		0.498	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823	
TNR	7143	hgsc.bcm.edu	37	1	175365900	175365900	+	Missense_Mutation	SNP	C	C	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr1:175365900C>G	ENST00000367674.2	-	5	1728	c.1020G>C	c.(1018-1020)agG>agC	p.R340S	TNR_ENST00000263525.2_Missense_Mutation_p.R340S			Q92752	TENR_HUMAN	tenascin R	340	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCTCAATGGACCTGTCGCTGA	0.607																																					p.R340S		Atlas-SNP	.											.	TNR	399	.	0			c.G1020C						.						75.0	79.0	78.0					1																	175365900		2203	4300	6503	SO:0001583	missense	7143	exon5			AATGGACCTGTCG	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1020G>C	chr1.hg19:g.175365900C>G	ENSP00000356646:p.Arg340Ser	97.0	0.0		62.0	40.0	NM_003285	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	hg19	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.622|6.622	0.483121|0.483121	0.12581|0.12581	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673|ENST00000422274	T;T|.	0.54479|.	0.57;0.57|.	5.95|5.95	5.02|5.02	0.67125|0.67125	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.539436|.	0.22022|.	N|.	0.065706|.	T|T	0.24005|0.24005	0.0581|0.0581	N|N	0.05230|0.05230	-0.09|-0.09	0.31839|0.31839	N|N	0.623663|0.623663	B|.	0.12013|.	0.005|.	B|.	0.14578|.	0.011|.	T|T	0.29274|0.29274	-1.0017|-1.0017	10|5	0.13853|.	T|.	0.58|.	.|.	10.4668|10.4668	0.44614|0.44614	0.2655:0.606:0.1286:0.0|0.2655:0.606:0.1286:0.0	.|.	340|.	Q92752|.	TENR_HUMAN|.	S|L	340|65	ENSP00000356646:R340S;ENSP00000263525:R340S|.	ENSP00000263525:R340S|.	R|V	-|-	3|1	2|0	TNR|TNR	173632523|173632523	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.750000|0.750000	0.26334|0.26334	1.468000|1.468000	0.48064|0.48064	0.563000|0.563000	0.77884|0.77884	AGG|GTC	.	.		0.607	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
TDRD5	163589	hgsc.bcm.edu	37	1	179631330	179631330	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr1:179631330T>C	ENST00000367614.1	+	14	2611	c.2252T>C	c.(2251-2253)aTg>aCg	p.M751T	TDRD5_ENST00000294848.8_Missense_Mutation_p.M751T|TDRD5_ENST00000444136.1_Missense_Mutation_p.M805T	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	751					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAGGCTAAGATGGGAAAAGGA	0.448																																					p.M805T		Atlas-SNP	.											.	TDRD5	149	.	0			c.T2414C						.						147.0	126.0	133.0					1																	179631330		2203	4300	6503	SO:0001583	missense	163589	exon15			CTAAGATGGGAAA	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2252T>C	chr1.hg19:g.179631330T>C	ENSP00000356586:p.Met751Thr	83.0	0.0		88.0	27.0	NM_001199085	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	hg19	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.461819	0.26248	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.32988	2.61;2.61;2.81;1.43	5.41	3.02	0.34903	.	0.919717	0.09338	N	0.815961	T	0.17365	0.0417	L	0.47716	1.5	0.09310	N	1	B;P	0.42827	0.01;0.791	B;B	0.29598	0.027;0.104	T	0.07966	-1.0745	10	0.10377	T	0.69	-23.7189	4.6966	0.12806	0.0:0.0974:0.1945:0.7082	.	805;751	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	T	751;751;805;261	ENSP00000356586:M751T;ENSP00000294848:M751T;ENSP00000406052:M805T;ENSP00000410744:M261T	ENSP00000294848:M751T	M	+	2	0	TDRD5	177897953	0.998000	0.40836	0.540000	0.28089	0.925000	0.55904	1.364000	0.34171	2.179000	0.69175	0.528000	0.53228	ATG	.	.		0.448	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533	
HMCN1	83872	hgsc.bcm.edu	37	1	186050420	186050420	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr1:186050420G>A	ENST00000271588.4	+	56	8910	c.8681G>A	c.(8680-8682)tGt>tAt	p.C2894Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.C2894Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2894	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGATAGAGTGTTTATCCAGT	0.458																																					p.C2894Y		Atlas-SNP	.											.	HMCN1	797	.	0			c.G8681A						.						157.0	151.0	153.0					1																	186050420		2203	4300	6503	SO:0001583	missense	83872	exon56			TAGAGTGTTTATC	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8681G>A	chr1.hg19:g.186050420G>A	ENSP00000271588:p.Cys2894Tyr	83.0	0.0		56.0	33.0	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804114	0.90623	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.73789	-0.78;-0.78	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93406	0.7897	H	0.99697	4.71	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95891	0.8907	10	0.87932	D	0	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	2894	Q96RW7	HMCN1_HUMAN	Y	2894	ENSP00000271588:C2894Y;ENSP00000356462:C2894Y	ENSP00000271588:C2894Y	C	+	2	0	HMCN1	184317043	1.000000	0.71417	0.944000	0.38274	0.897000	0.52465	9.414000	0.97362	2.778000	0.95560	0.655000	0.94253	TGT	.	.		0.458	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
FLVCR1	28982	hgsc.bcm.edu	37	1	213068556	213068556	+	Splice_Site	SNP	A	A	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr1:213068556A>G	ENST00000366971.4	+	10	1791		c.e10-1		FLVCR1_ENST00000483790.1_Splice_Site	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1						blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TTGTTTTTATAGATACCAGCT	0.353																																					.	Esophageal Squamous(199;2235 2952 19233 26256)	Atlas-SNP	.											.	FLVCR1	31	.	0			c.1594-2A>G						.						92.0	88.0	90.0					1																	213068556		2203	4300	6503	SO:0001630	splice_region_variant	28982	exon10			TTTTATAGATACC	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.1594-1A>G	chr1.hg19:g.213068556A>G		174.0	0.0		279.0	75.0	NM_014053	Q1HE16|Q86XY9|Q9NVR9	Splice_Site	SNP	ENST00000366971.4	hg19	CCDS1510.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159079	0.38119	.	.	ENSG00000162769	ENST00000366971;ENST00000419102	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8184	0.52224	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FLVCR1	211135179	0.998000	0.40836	0.997000	0.53966	0.362000	0.29581	4.223000	0.58587	2.039000	0.60335	0.533000	0.62120	.	.	.		0.353	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053	Intron
NUP133	55746	hgsc.bcm.edu	37	1	229631723	229631723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr1:229631723C>T	ENST00000261396.3	-	7	982	c.891G>A	c.(889-891)tgG>tgA	p.W297*	NUP133_ENST00000537506.1_Nonsense_Mutation_p.W281*	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	297					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CATCTAATTCCCATTTACTGA	0.353																																					p.W297X		Atlas-SNP	.											.	NUP133	111	.	0			c.G891A						.						110.0	107.0	108.0					1																	229631723		2203	4300	6503	SO:0001587	stop_gained	55746	exon7			TAATTCCCATTTA		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.891G>A	chr1.hg19:g.229631723C>T	ENSP00000261396:p.Trp297*	28.0	0.0		49.0	26.0	NM_018230	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Nonsense_Mutation	SNP	ENST00000261396.3	hg19	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	38	7.118482	0.98074	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.7656	19.5382	0.95264	0.0:1.0:0.0:0.0	.	.	.	.	X	297;297;297;281	.	ENSP00000261396:W297X	W	-	3	0	NUP133	227698346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.445000	0.73456	2.621000	0.88768	0.650000	0.86243	TGG	.	.		0.353	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230	
DNMT3A	1788	hgsc.bcm.edu	37	2	25469632	25469632	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr2:25469632C>T	ENST00000264709.3	-	10	1473	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	DNMT3A_ENST00000402667.1_Missense_Mutation_p.R156H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R190H|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R379H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	379	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCCCCGCGCGGCTGCTGGC	0.632			"""Mis, F, N, S"""		AML																																p.R379H		Atlas-SNP	.		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	.	DNMT3A	1807	.	0			c.G1136A						.						63.0	65.0	65.0					2																	25469632		2201	4299	6500	SO:0001583	missense	1788	exon10			CCCGCGCGGCTGC		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1136G>A	chr2.hg19:g.25469632C>T	ENSP00000264709:p.Arg379His	59.0	0.0		52.0	5.0	NM_175629	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	hg19	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528548	0.64860	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	4.87	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.68458	0.3003	M	0.63843	1.955	0.80722	D	1	D;P	0.63880	0.993;0.534	P;B	0.44946	0.465;0.012	T	0.73291	-0.4029	10	0.62326	D	0.03	-4.7029	11.3924	0.49822	0.0:0.9088:0.0:0.0912	.	379;190	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	190;379;379;156	ENSP00000370122:R190H;ENSP00000324375:R379H;ENSP00000264709:R379H;ENSP00000384237:R156H	ENSP00000264709:R379H	R	-	2	0	DNMT3A	25323136	1.000000	0.71417	0.953000	0.39169	0.543000	0.35085	7.472000	0.80996	2.535000	0.85469	0.655000	0.94253	CGC	.	.		0.632	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	
DNMT3A	1788	hgsc.bcm.edu	37	2	25497874	25497874	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr2:25497874G>T	ENST00000264709.3	-	6	912	c.575C>A	c.(574-576)gCg>gAg	p.A192E	DNMT3A_ENST00000321117.5_Missense_Mutation_p.A192E	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	192					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGTCCCCCGCCTGGAAGGT	0.697			"""Mis, F, N, S"""		AML																																p.A192E		Atlas-SNP	.		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	DNMT3A,colon,carcinoma,0,1	DNMT3A	1807	.	0			c.C575A						.						35.0	33.0	34.0					2																	25497874		2203	4300	6503	SO:0001583	missense	1788	exon6			TCCCCCGCCTGGA		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.575C>A	chr2.hg19:g.25497874G>T	ENSP00000264709:p.Ala192Glu	137.0	0.0		118.0	40.0	NM_175629	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	hg19	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271735	0.95429	.	.	ENSG00000119772	ENST00000321117;ENST00000264709	D;D	0.95518	-3.73;-3.73	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000002	D	0.95497	0.8537	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	D	0.96106	0.9073	10	0.56958	D	0.05	-9.9332	16.3295	0.83004	0.0:0.0:1.0:0.0	.	192	Q9Y6K1	DNM3A_HUMAN	E	192	ENSP00000324375:A192E;ENSP00000264709:A192E	ENSP00000264709:A192E	A	-	2	0	DNMT3A	25351378	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	9.004000	0.93583	2.448000	0.82819	0.561000	0.74099	GCG	.	.		0.697	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	
EFEMP1	2202	hgsc.bcm.edu	37	2	56103824	56103824	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr2:56103824G>A	ENST00000394555.2	-	7	1249	c.814C>T	c.(814-816)Ctt>Ttt	p.L272F	EFEMP1_ENST00000355426.3_Missense_Mutation_p.L272F|EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000394554.1_Missense_Mutation_p.L272F	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	272	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATGAACCAAGAATGTTGTAG	0.338																																					p.L272F	GBM(92;934 1319 7714 28760 40110)	Atlas-SNP	.											.	EFEMP1	81	.	0			c.C814T						.						126.0	111.0	116.0					2																	56103824		2203	4300	6503	SO:0001583	missense	2202	exon7			AACCAAGAATGTT	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.814C>T	chr2.hg19:g.56103824G>A	ENSP00000378058:p.Leu272Phe	280.0	0.0		416.0	149.0	NM_001039349	A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	hg19	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871614	0.33069	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000355426	D;D;D	0.87887	-2.31;-2.31;-2.31	5.73	5.73	0.89815	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.56097	D	0.000032	T	0.77837	0.4190	N	0.24115	0.695	0.80722	D	1	P	0.43826	0.818	B	0.39299	0.296	T	0.75883	-0.3160	10	0.11794	T	0.64	.	14.7367	0.69422	0.0:0.2642:0.7358:0.0	.	272	Q12805	FBLN3_HUMAN	F	272;272;128;272	ENSP00000378058:L272F;ENSP00000378057:L272F;ENSP00000347596:L272F	ENSP00000347596:L272F	L	-	1	0	EFEMP1	55957328	0.991000	0.36638	1.000000	0.80357	0.999000	0.98932	1.886000	0.39688	2.679000	0.91253	0.650000	0.86243	CTT	.	.		0.338	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2		
ELMOD3	84173	hgsc.bcm.edu	37	2	85604561	85604561	+	Silent	SNP	G	G	A	rs371072018		TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr2:85604561G>A	ENST00000409890.2	+	11	1369	c.702G>A	c.(700-702)gcG>gcA	p.A234A	ELMOD3_ENST00000315658.7_Silent_p.A234A|ELMOD3_ENST00000409344.3_Silent_p.A234A|ELMOD3_ENST00000409013.3_Silent_p.A234A|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000393852.4_Silent_p.A234A|ELMOD3_ENST00000428955.2_Silent_p.A234A			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	234	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						TGCCGATGGCGCAGGAGATTT	0.582																																					p.A234A		Atlas-SNP	.											.	ELMOD3	53	.	0			c.G702A						.	G	,,,	0,4406		0,0,2203	102.0	81.0	88.0		702,702,702,702	-11.5	0.7	2		88	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ELMOD3	NM_001135021.1,NM_001135022.1,NM_001135023.1,NM_032213.4	,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,	234/382,234/382,234/382,234/392	85604561	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84173	exon11			GATGGCGCAGGAG	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.702G>A	chr2.hg19:g.85604561G>A		43.0	0.0		39.0	9.0	NM_001135022	B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Silent	SNP	ENST00000409890.2	hg19	CCDS46352.1																																																																																			.	.		0.582	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213	
RNF103	7844	hgsc.bcm.edu	37	2	86849812	86849812	+	Silent	SNP	C	C	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr2:86849812C>T	ENST00000237455.4	-	1	1166	c.198G>A	c.(196-198)aaG>aaA	p.K66K	RNF103_ENST00000477307.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	66					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K66delK(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CCCGGACATCCTTCTTCTCGG	0.617																																					p.K66K		Atlas-SNP	.											.,1	RNF103	58	.	1	Deletion - In frame(1)	large_intestine(1)	c.G198A						.						73.0	81.0	79.0					2																	86849812		2203	4300	6503	SO:0001819	synonymous_variant	7844	exon1			GACATCCTTCTTC	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.198G>A	chr2.hg19:g.86849812C>T		152.0	0.0		164.0	73.0	NM_005667	A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Silent	SNP	ENST00000237455.4	hg19	CCDS33237.1																																																																																			.	.		0.617	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667	
KCNH7	90134	hgsc.bcm.edu	37	2	163291972	163291973	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr2:163291972_163291973GA>TT	ENST00000332142.5	-	8	1788_1789	c.1689_1690TC>AA	c.(1687-1692)gcTCac>gcAAac	p.H564N	KCNH7_ENST00000328032.4_Missense_Mutation_p.H557N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	564					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GCCAGCCAGTGAGCAATCAGGG	0.48																																					p.H564N|p.A563A	GBM(196;1492 2208 17507 24132 45496)	Atlas-SNP	.											.	KCNH7	378	.	0			c.C1690A|c.T1689A						.																																			SO:0001583	missense	90134	exon8			GCCAGTGAGCAAT|CCAGTGAGCAATC	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1689_1690delinsTT	chr2.hg19:g.163291972_163291973delinsTT	ENSP00000331727:p.His564Asn	120.0|119.0	0.0		145.0|140.0	58.0|56.0	NM_033272	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation|Silent	SNP	ENST00000332142.5	hg19	CCDS2219.1																																																																																			.	.		0.480	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
PDE11A	50940	hgsc.bcm.edu	37	2	178562092	178562092	+	Silent	SNP	T	T	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr2:178562092T>G	ENST00000286063.6	-	15	2630	c.2313A>C	c.(2311-2313)tcA>tcC	p.S771S	PDE11A_ENST00000389683.3_Silent_p.S327S|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Silent_p.S413S|AC012499.1_ENST00000412133.1_RNA|PDE11A_ENST00000449286.2_Silent_p.S413S|AC012499.1_ENST00000450227.1_RNA|PDE11A_ENST00000358450.4_Silent_p.S521S	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	771	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TTGCCAATATTGACTGCTTCA	0.398									Primary Pigmented Nodular Adrenocortical Disease, Familial																												p.S771S		Atlas-SNP	.											.	PDE11A	283	.	0			c.A2313C						.						162.0	135.0	144.0					2																	178562092		2203	4300	6503	SO:0001819	synonymous_variant	50940	exon15	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	CAATATTGACTGC	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2313A>C	chr2.hg19:g.178562092T>G		49.0	0.0		61.0	27.0	NM_016953	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	hg19	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	T	9.810	1.182806	0.21870	.	.	ENSG00000128655	ENST00000433879	.	.	.	5.57	1.39	0.22231	.	.	.	.	.	T	0.44519	0.1297	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23976	-1.0173	4	.	.	.	.	3.2999	0.06979	0.0972:0.1311:0.2174:0.5543	.	.	.	.	P	379	.	.	Q	-	2	0	PDE11A	178270338	0.614000	0.27017	1.000000	0.80357	0.998000	0.95712	-0.370000	0.07523	0.360000	0.24265	0.528000	0.53228	CAA	.	.		0.398	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2		
DNAH7	56171	hgsc.bcm.edu	37	2	196709853	196709853	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr2:196709853T>C	ENST00000312428.6	-	47	8918	c.8818A>G	c.(8818-8820)Aga>Gga	p.R2940G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2940					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGGATATCTCTTCCTTTGCAC	0.393																																					p.R2940G		Atlas-SNP	.											.	DNAH7	512	.	0			c.A8818G						.						139.0	124.0	129.0					2																	196709853		1854	4102	5956	SO:0001583	missense	56171	exon47			TATCTCTTCCTTT	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8818A>G	chr2.hg19:g.196709853T>C	ENSP00000311273:p.Arg2940Gly	109.0	0.0		111.0	39.0	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	hg19	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.864216	0.32977	.	.	ENSG00000118997	ENST00000312428	T	0.23348	1.91	5.8	4.66	0.58398	.	0.219924	0.46145	N	0.000303	T	0.27731	0.0682	M	0.70275	2.135	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.04885	-1.0920	10	0.24483	T	0.36	.	11.2587	0.49069	0.0:0.0718:0.0:0.9282	.	2940	Q8WXX0	DYH7_HUMAN	G	2940	ENSP00000311273:R2940G	ENSP00000311273:R2940G	R	-	1	2	DNAH7	196418098	0.279000	0.24239	0.114000	0.21550	0.953000	0.61014	3.575000	0.53870	1.034000	0.39945	0.528000	0.53228	AGA	.	.		0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
FAM117B	150864	hgsc.bcm.edu	37	2	203630440	203630440	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr2:203630440G>A	ENST00000392238.2	+	8	1723	c.1723G>A	c.(1723-1725)Gct>Act	p.A575T	FAM117B_ENST00000303116.6_Missense_Mutation_p.A331T			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	575										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CATGCCATCAGCTTCTCTACT	0.512																																					p.A575T		Atlas-SNP	.											FAM117B_ENST00000392238,colon,carcinoma,0,2	FAM117B	73	.	0			c.G1723A						.						106.0	99.0	101.0					2																	203630440		2203	4300	6503	SO:0001583	missense	150864	exon8			CCATCAGCTTCTC	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1723G>A	chr2.hg19:g.203630440G>A	ENSP00000376071:p.Ala575Thr	95.0	0.0		122.0	52.0	NM_173511	Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Missense_Mutation	SNP	ENST00000392238.2	hg19	CCDS33362.2	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244235	0.22796	.	.	ENSG00000138439	ENST00000303116;ENST00000392238	.	.	.	5.75	2.95	0.34219	.	0.659654	0.14918	N	0.290835	T	0.12987	0.0315	N	0.03115	-0.41	0.23095	N	0.998305	B	0.16802	0.019	B	0.12156	0.007	T	0.21177	-1.0253	9	0.19147	T	0.46	-4.0791	2.4797	0.04584	0.1249:0.3727:0.3338:0.1686	.	575	Q6P1L5	F117B_HUMAN	T	331;575	.	ENSP00000306299:A331T	A	+	1	0	FAM117B	203338685	0.853000	0.29707	0.482000	0.27366	0.826000	0.46750	1.311000	0.33562	0.756000	0.33013	-0.311000	0.09066	GCT	.	.		0.512	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511	
OBSL1	23363	hgsc.bcm.edu	37	2	220427162	220427162	+	Missense_Mutation	SNP	A	A	G	rs535601955		TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr2:220427162A>G	ENST00000404537.1	-	8	2971	c.2915T>C	c.(2914-2916)aTt>aCt	p.I972T	OBSL1_ENST00000373873.4_Missense_Mutation_p.I972T|OBSL1_ENST00000603926.1_Missense_Mutation_p.I972T|OBSL1_ENST00000289656.3_Missense_Mutation_p.I559T|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265318.4_Missense_Mutation_p.I972T|OBSL1_ENST00000373876.1_Missense_Mutation_p.I972T	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	972	Ig-like 7.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTCATCGTCAATTTCACACAA	0.657													A|||	1	0.000199681	0.0	0.0014	5008	,	,		20147	0.0		0.0	False		,,,				2504	0.0				p.I972T		Atlas-SNP	.											.	OBSL1	120	.	0			c.T2915C						.						72.0	82.0	79.0					2																	220427162		2203	4299	6502	SO:0001583	missense	23363	exon8			TCGTCAATTTCAC	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2915T>C	chr2.hg19:g.220427162A>G	ENSP00000385636:p.Ile972Thr	103.0	0.0		72.0	25.0	NM_001173431	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	hg19	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	A	7.575	0.667437	0.14710	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	4.72	3.38	0.38709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40570	0.1122	N	0.01048	-1.04	0.36032	D	0.8395	B;B;B;B	0.30281	0.275;0.133;0.013;0.041	P;B;B;B	0.44447	0.45;0.401;0.005;0.032	T	0.46569	-0.9182	9	0.27082	T	0.32	.	3.239	0.06774	0.6076:0.0:0.3924:0.0	.	973;972;559;972	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	T	972;972;972;972;559	ENSP00000265318:I972T;ENSP00000385636:I972T;ENSP00000362983:I972T;ENSP00000362980:I972T;ENSP00000289656:I559T	ENSP00000265318:I972T	I	-	2	0	OBSL1	220135406	0.951000	0.32395	0.999000	0.59377	0.942000	0.58702	5.731000	0.68554	1.898000	0.54952	0.533000	0.62120	ATT	.	.		0.657	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1		
FAM124B	79843	hgsc.bcm.edu	37	2	225244883	225244883	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr2:225244883C>A	ENST00000409685.3	-	2	1040	c.775G>T	c.(775-777)Gga>Tga	p.G259*	FAM124B_ENST00000389874.3_3'UTR	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	259										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)		ATGCCAGCTCCCAAGATGCCA	0.507																																					p.G259X		Atlas-SNP	.											.	FAM124B	71	.	0			c.G775T						.						43.0	45.0	44.0					2																	225244883		692	1591	2283	SO:0001587	stop_gained	79843	exon2			CAGCTCCCAAGAT	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.775G>T	chr2.hg19:g.225244883C>A	ENSP00000386895:p.Gly259*	101.0	0.0		94.0	37.0	NM_001122779	A6NNC7|Q8NBZ4|Q8TAV7	Nonsense_Mutation	SNP	ENST00000409685.3	hg19	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023859	0.93462	.	.	ENSG00000124019	ENST00000409685	.	.	.	5.71	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.19575	N	0.999964	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-0.4856	9.0671	0.36469	0.0:0.8273:0.0:0.1727	.	.	.	.	X	259	.	ENSP00000386895:G259X	G	-	1	0	FAM124B	224953127	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.578000	0.23773	0.720000	0.32209	0.655000	0.94253	GGA	.	.		0.507	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785	
C3orf35	339883	hgsc.bcm.edu	37	3	37476365	37476365	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr3:37476365G>T	ENST00000328376.5	+	6	1236	c.257G>T	c.(256-258)gGg>gTg	p.G86V	C3orf35_ENST00000481400.1_3'UTR	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	86						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						aaaagggaggggactgactca	0.458																																					p.G86V		Atlas-SNP	.											.	C3orf35	21	.	0			c.G257T						.						30.0	30.0	30.0					3																	37476365		1882	4096	5978	SO:0001583	missense	339883	exon6			GGGAGGGGACTGA	AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"""AP20 region protein"", ""APRG1 tumor suppressor candidate"""	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.257G>T	chr3.hg19:g.37476365G>T	ENSP00000331625:p.Gly86Val	228.0	0.0		268.0	115.0	NM_178339	B7ZMA0|Q8IVJ5|Q8IVJ9	Missense_Mutation	SNP	ENST00000328376.5	hg19	CCDS43065.1	.	.	.	.	.	.	.	.	.	.	G	3.250	-0.153496	0.06585	.	.	ENSG00000198590	ENST00000328376	T	0.59083	0.29	0.565	-0.605	0.11623	.	.	.	.	.	T	0.31513	0.0799	N	0.08118	0	0.09310	N	1	B	0.21520	0.057	B	0.14023	0.01	T	0.18147	-1.0346	8	0.87932	D	0	.	.	.	.	.	86	Q8IVJ8	APRG1_HUMAN	V	86	ENSP00000331625:G86V	ENSP00000331625:G86V	G	+	2	0	C3orf35	37451369	0.037000	0.19845	0.010000	0.14722	0.010000	0.07245	0.364000	0.20325	-0.311000	0.08754	-0.311000	0.09066	GGG	.	.		0.458	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342344.2	NM_178338	
SLC25A38	54977	hgsc.bcm.edu	37	3	39433406	39433406	+	Silent	SNP	G	G	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr3:39433406G>T	ENST00000273158.4	+	5	896	c.519G>T	c.(517-519)ggG>ggT	p.G173G		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACAGTGAGGGGCACCGGGGCC	0.517																																					p.G173G		Atlas-SNP	.											.	SLC25A38	25	.	0			c.G519T						.						80.0	78.0	78.0					3																	39433406		2203	4300	6503	SO:0001819	synonymous_variant	54977	exon5			TGAGGGGCACCGG	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"""Solute carriers"""	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.519G>T	chr3.hg19:g.39433406G>T		108.0	0.0		124.0	52.0	NM_017875		Silent	SNP	ENST00000273158.4	hg19	CCDS2685.1																																																																																			.	.		0.517	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266125	41266125	+	Missense_Mutation	SNP	C	C	T	rs121913413		TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr3:41266125C>T	ENST00000349496.5	+	3	402	c.122C>T	c.(121-123)aCc>aTc	p.T41I	CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41I|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41I|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41I|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34I	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes). {ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10398436, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10655994, ECO:0000269|PubMed:9927029}.|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T41I(74)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41N(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A39_T42del(1)|p.A20_S111del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GGTGCCACTACCACAGCTCCT	0.507		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												p.T41I	Colon(6;3 56 14213 18255)	Atlas-SNP	.		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	CTNNB1,gallbladder,other,+1,98	CTNNB1	4904	.	204	Deletion - In frame(95)|Substitution - Missense(83)|Complex - deletion inframe(17)|Unknown(7)|Deletion - Frameshift(2)	liver(105)|large_intestine(24)|pituitary(20)|endometrium(14)|stomach(8)|skin(6)|biliary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|pancreas(3)|thyroid(2)|small_intestine(2)|prostate(2)|ovary(2)|bone(2)|adrenal_gland(1)|cervix(1)	c.C122T						.						90.0	77.0	81.0					3																	41266125		2203	4300	6503	SO:0001583	missense	1499	exon3	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	CCACTACCACAGC	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.122C>T	chr3.hg19:g.41266125C>T	ENSP00000344456:p.Thr41Ile	94.0	0.0		141.0	56.0	NM_001098209	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	hg19	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568904	0.86439	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	M	0.79258	2.445	0.80722	D	1	D	0.67145	0.996	D	0.68039	0.955	T	0.72893	-0.4154	10	0.87932	D	0	-8.9189	20.2983	0.98569	0.0:1.0:0.0:0.0	.	41	P35222	CTNB1_HUMAN	I	34;41;41;41;41;34;41;41;41	ENSP00000400508:T34I;ENSP00000385604:T41I;ENSP00000412219:T41I;ENSP00000379486:T41I;ENSP00000344456:T41I;ENSP00000411226:T34I;ENSP00000379488:T41I;ENSP00000409302:T41I;ENSP00000401599:T41I	ENSP00000344456:T41I	T	+	2	0	CTNNB1	41241129	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	ACC	.	.		0.507	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
MAP4	4134	hgsc.bcm.edu	37	3	47957487	47957487	+	Silent	SNP	C	C	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr3:47957487C>A	ENST00000360240.6	-	7	2348	c.1830G>T	c.(1828-1830)ctG>ctT	p.L610L	MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Silent_p.L610L|MAP4_ENST00000426837.2_Silent_p.L627L	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	610					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CCACATCCTGCAGAGATTCTA	0.438																																					p.L610L		Atlas-SNP	.											.	MAP4	176	.	0			c.G1830T						.						181.0	184.0	183.0					3																	47957487		2203	4300	6503	SO:0001819	synonymous_variant	4134	exon7			ATCCTGCAGAGAT		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1830G>T	chr3.hg19:g.47957487C>A		31.0	0.0		47.0	18.0	NM_001134364	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	hg19	CCDS33750.1																																																																																			.	.		0.438	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375	
CD47	961	hgsc.bcm.edu	37	3	107798844	107798844	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr3:107798844G>A	ENST00000361309.5	-	2	499	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	CD47_ENST00000355354.7_Missense_Mutation_p.R132C	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule	132					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			TTACCAACACGATATTTTAGC	0.413																																					p.R132C		Atlas-SNP	.											.	CD47	37	.	0			c.C394T						.						202.0	175.0	184.0					3																	107798844		1870	4111	5981	SO:0001583	missense	961	exon2			CAACACGATATTT		CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216	ENST00000361309.5:c.394C>T	chr3.hg19:g.107798844G>A	ENSP00000355361:p.Arg132Cys	80.0	0.0		117.0	36.0	NM_198793	A8K198|D3DN59|Q53Y71|Q96A60	Missense_Mutation	SNP	ENST00000361309.5	hg19	CCDS43126.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652276	0.47362	.	.	ENSG00000196776	ENST00000355354;ENST00000361309	.	.	.	6.04	6.04	0.98038	CD47 immunoglobulin-like (1);	0.075364	0.56097	D	0.000027	T	0.62648	0.2445	L	0.57536	1.79	0.09310	N	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;P;D;D	0.65573	0.894;0.894;0.936;0.936	T	0.59182	-0.7502	9	0.72032	D	0.01	.	12.9803	0.58559	0.0:0.0:0.8388:0.1612	.	132;132;132;132	Q08722-2;Q08722-3;E9PB22;Q08722	.;.;.;CD47_HUMAN	C	132	.	ENSP00000347512:R132C	R	-	1	0	CD47	109281534	0.009000	0.17119	0.557000	0.28306	0.310000	0.27922	1.742000	0.38248	2.873000	0.98535	0.561000	0.74099	CGT	.	.		0.413	CD47-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000102793.1	NM_001777	
KIAA2018	205717	hgsc.bcm.edu	37	3	113377134	113377134	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr3:113377134A>G	ENST00000478658.1	-	5	3412	c.3395T>C	c.(3394-3396)aTa>aCa	p.I1132T	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.I1132T			Q68DE3	K2018_HUMAN	KIAA2018	1132						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AAGAGCTACTATATCAGTTTG	0.443																																					p.I1132T		Atlas-SNP	.											.	KIAA2018	180	.	0			c.T3395C						.						126.0	119.0	122.0					3																	113377134		1935	4145	6080	SO:0001583	missense	205717	exon7			GCTACTATATCAG	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3395T>C	chr3.hg19:g.113377134A>G	ENSP00000420721:p.Ile1132Thr	57.0	0.0		92.0	29.0	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	hg19	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578056	0.65878	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.20069	2.1;2.1	5.43	5.43	0.79202	.	0.048192	0.85682	D	0.000000	T	0.34395	0.0896	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.05321	-1.0892	10	0.51188	T	0.08	-13.1732	15.4858	0.75564	1.0:0.0:0.0:0.0	.	1132	Q68DE3	K2018_HUMAN	T	1132	ENSP00000320794:I1132T;ENSP00000420721:I1132T	ENSP00000320794:I1132T	I	-	2	0	KIAA2018	114859824	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	8.785000	0.91822	2.070000	0.61991	0.459000	0.35465	ATA	.	.		0.443	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899	
CLSTN2	64084	hgsc.bcm.edu	37	3	140123535	140123535	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr3:140123535C>A	ENST00000458420.3	+	4	754	c.564C>A	c.(562-564)tgC>tgA	p.C188*	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	188	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						ACGAGGACTGCTCCCCACAGT	0.532										HNSCC(16;0.037)																											p.C188X	GBM(45;858 913 3709 36904 37282)	Atlas-SNP	.											.	CLSTN2	190	.	0			c.C564A						.						147.0	122.0	130.0					3																	140123535		2203	4300	6503	SO:0001587	stop_gained	64084	exon4			GGACTGCTCCCCA	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.564C>A	chr3.hg19:g.140123535C>A	ENSP00000402460:p.Cys188*	131.0	0.0		136.0	54.0	NM_022131	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Nonsense_Mutation	SNP	ENST00000458420.3	hg19	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	35	5.560943	0.96527	.	.	ENSG00000158258	ENST00000458420	.	.	.	5.66	0.182	0.15077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6237	8.7125	0.34393	0.0:0.5135:0.0:0.4865	.	.	.	.	X	188	.	ENSP00000402460:C188X	C	+	3	2	CLSTN2	141606225	0.996000	0.38824	0.997000	0.53966	0.595000	0.36748	0.471000	0.22100	0.083000	0.17047	0.563000	0.77884	TGC	.	.		0.532	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
TNFSF10	8743	hgsc.bcm.edu	37	3	172241126	172241126	+	Missense_Mutation	SNP	C	C	T	rs11545817		TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr3:172241126C>T	ENST00000241261.2	-	1	171	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	TNFSF10_ENST00000420541.2_Missense_Mutation_p.V17M	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	17					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACGATCAGCACGCAGGTCTGT	0.557																																					p.V17M		Atlas-SNP	.											.	TNFSF10	30	.	0			c.G49A						.						132.0	112.0	119.0					3																	172241126		2203	4300	6503	SO:0001583	missense	8743	exon1			TCAGCACGCAGGT	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.49G>A	chr3.hg19:g.172241126C>T	ENSP00000241261:p.Val17Met	99.0	0.0		108.0	36.0	NM_001190943	A1Y9B3	Missense_Mutation	SNP	ENST00000241261.2	hg19	CCDS3219.1	.	.	.	.	.	.	.	.	.	.	C	4.451	0.083501	0.08533	.	.	ENSG00000121858	ENST00000241261;ENST00000420541	T;T	0.31510	1.49;1.49	5.53	0.449	0.16619	.	0.479411	0.24762	N	0.035803	T	0.13286	0.0322	N	0.22421	0.69	0.09310	N	1	P;B	0.38745	0.645;0.297	B;B	0.30401	0.115;0.015	T	0.13980	-1.0489	10	0.44086	T	0.13	-1.4204	3.3367	0.07103	0.2872:0.3872:0.0:0.3256	rs11545817	17;17	A1Y9B3;P50591	.;TNF10_HUMAN	M	17	ENSP00000241261:V17M;ENSP00000389931:V17M	ENSP00000241261:V17M	V	-	1	0	TNFSF10	173723820	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	-0.900000	0.04097	-0.212000	0.10109	-0.150000	0.13652	GTG	.	.		0.557	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1		
EVC2	132884	hgsc.bcm.edu	37	4	5630306	5630306	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr4:5630306G>C	ENST00000344408.5	-	12	1919	c.1866C>G	c.(1864-1866)caC>caG	p.H622Q	EVC2_ENST00000310917.2_Missense_Mutation_p.H542Q|EVC2_ENST00000344938.1_Missense_Mutation_p.H622Q	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	622					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCTGAATGAGGTGAGTCAGCT	0.522																																					p.H622Q		Atlas-SNP	.											.	EVC2	202	.	0			c.C1866G						.						118.0	98.0	105.0					4																	5630306		2203	4300	6503	SO:0001583	missense	132884	exon12			AATGAGGTGAGTC	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1866C>G	chr4.hg19:g.5630306G>C	ENSP00000342144:p.His622Gln	82.0	0.0		68.0	19.0	NM_147127	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	hg19	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	G	8.804	0.933676	0.18206	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.76186	-1.0;-1.0;-1.0	4.8	-0.939	0.10408	.	0.192353	0.46758	D	0.000262	T	0.55081	0.1898	N	0.22421	0.69	0.09310	N	0.999999	B	0.12630	0.006	B	0.12837	0.008	T	0.36720	-0.9736	10	0.13108	T	0.6	-0.6203	13.1892	0.59700	0.0768:0.642:0.2812:0.0	.	622	Q86UK5	LBN_HUMAN	Q	622;542;622	ENSP00000339954:H622Q;ENSP00000311683:H542Q;ENSP00000342144:H622Q	ENSP00000311683:H542Q	H	-	3	2	EVC2	5681207	0.000000	0.05858	0.498000	0.27564	0.870000	0.49936	-1.093000	0.03362	-0.130000	0.11599	0.484000	0.47621	CAC	.	.		0.522	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
LPHN3	23284	hgsc.bcm.edu	37	4	62903534	62903534	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr4:62903534C>A	ENST00000514591.1	+	23	3802	c.3473C>A	c.(3472-3474)tCt>tAt	p.S1158Y	LPHN3_ENST00000506720.1_Missense_Mutation_p.S1226Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.S1149Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.S1217Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.S1158Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.S1217Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.S1149Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.S1217Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.S1226Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.S1226Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.S1149Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.S1158Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.S1158Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.S1217Y|LPHN3_ENST00000512091.2_Missense_Mutation_p.S1158Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1136					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GGGAAAACATCTGGTTCTCGA	0.413																																					p.S1158Y		Atlas-SNP	.											LPHN3_ENST00000514591,NS,carcinoma,0,3	LPHN3	800	.	0			c.C3473A						.						131.0	132.0	132.0					4																	62903534		1991	4183	6174	SO:0001583	missense	23284	exon21			AAACATCTGGTTC	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3473C>A	chr4.hg19:g.62903534C>A	ENSP00000422533:p.Ser1158Tyr	141.0	0.0		183.0	11.0	NM_015236	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	hg19	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339503	0.81911	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.33	5.33	0.75918	GPCR, family 2, latrophilin, C-terminal (1);	0.282499	0.35466	N	0.003182	T	0.56775	0.2008	L	0.52573	1.65	0.50039	D	0.999848	D;D;D	0.61080	0.989;0.989;0.974	P;P;P	0.58077	0.832;0.832;0.66	T	0.58951	-0.7545	10	0.87932	D	0	.	19.3821	0.94542	0.0:1.0:0.0:0.0	.	1158;1136;1158	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	Y	1158;1158;1226;1217;1149;1158;1136;1158;1217;1226;1217;1149;1158;1158;1226;1217;1149	ENSP00000423388:S1158Y;ENSP00000422533:S1158Y;ENSP00000423787:S1226Y;ENSP00000425033:S1217Y;ENSP00000424120:S1149Y;ENSP00000439831:S1158Y;ENSP00000421476:S1217Y;ENSP00000424030:S1226Y;ENSP00000421372:S1217Y;ENSP00000425201:S1149Y;ENSP00000423434:S1158Y;ENSP00000421627:S1158Y;ENSP00000420931:S1226Y;ENSP00000425884:S1217Y;ENSP00000424258:S1149Y	ENSP00000280009:S1158Y	S	+	2	0	LPHN3	62586129	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.438000	0.80431	2.653000	0.90120	0.650000	0.86243	TCT	.	.		0.413	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
SLC4A4	8671	hgsc.bcm.edu	37	4	72423536	72423536	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr4:72423536G>T	ENST00000264485.5	+	22	2988	c.2871G>T	c.(2869-2871)caG>caT	p.Q957H	SLC4A4_ENST00000351898.6_Missense_Mutation_p.Q873H|SLC4A4_ENST00000425175.1_Missense_Mutation_p.Q957H|SLC4A4_ENST00000340595.3_Missense_Mutation_p.Q913H	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	957					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CTTTCCTGCAGGTGTTGTGTC	0.493																																					p.Q957H		Atlas-SNP	.											.	SLC4A4	269	.	0			c.G2871T						.						156.0	123.0	134.0					4																	72423536		2203	4300	6503	SO:0001583	missense	8671	exon22			CCTGCAGGTGTTG	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2871G>T	chr4.hg19:g.72423536G>T	ENSP00000264485:p.Gln957His	60.0	0.0		105.0	40.0	NM_001098484	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	hg19	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375272	0.82682	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	D;D;D;D	0.86562	-2.13;-2.12;-1.68;-2.14	5.95	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.95079	0.8406	H	0.95043	3.615	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.95790	0.8824	10	0.87932	D	0	.	11.9044	0.52703	0.139:0.0:0.861:0.0	.	957;873;913;957	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	H	957;957;873;913	ENSP00000264485:Q957H;ENSP00000393557:Q957H;ENSP00000307349:Q873H;ENSP00000344272:Q913H	ENSP00000264485:Q957H	Q	+	3	2	SLC4A4	72642400	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.606000	0.54095	1.520000	0.48965	0.563000	0.77884	CAG	.	.		0.493	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	
GRID2	2895	hgsc.bcm.edu	37	4	94145811	94145811	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr4:94145811C>A	ENST00000282020.4	+	7	1268	c.1010C>A	c.(1009-1011)gCt>gAt	p.A337D	GRID2_ENST00000510992.1_Missense_Mutation_p.A242D	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	337					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CTTGCTAATGCTTTTCATAAG	0.443																																					p.A337D		Atlas-SNP	.											.	GRID2	233	.	0			c.C1010A						.						86.0	82.0	83.0					4																	94145811		2203	4300	6503	SO:0001583	missense	2895	exon7			CTAATGCTTTTCA	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1010C>A	chr4.hg19:g.94145811C>A	ENSP00000282020:p.Ala337Asp	95.0	0.0		106.0	40.0	NM_001510	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	hg19	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567908	0.86439	.	.	ENSG00000152208	ENST00000282020;ENST00000510992;ENST00000512631	D;D;D	0.95035	-3.59;-3.59;-3.59	5.53	5.53	0.82687	Extracellular ligand-binding receptor (1);	0.180348	0.49305	D	0.000158	D	0.94761	0.8309	L	0.32530	0.975	0.49299	D	0.999777	P;P;D	0.62365	0.77;0.77;0.991	B;B;P	0.56960	0.409;0.409;0.81	D	0.95371	0.8464	10	0.87932	D	0	.	19.4895	0.95044	0.0:1.0:0.0:0.0	.	242;337;242	E9PH24;O43424;Q4KKU8	.;GRID2_HUMAN;.	D	337;242;18	ENSP00000282020:A337D;ENSP00000421257:A242D;ENSP00000423331:A18D	ENSP00000282020:A337D	A	+	2	0	GRID2	94364834	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.040000	0.70980	2.596000	0.87737	0.655000	0.94253	GCT	.	.		0.443	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		
LRIT3	345193	hgsc.bcm.edu	37	4	110772897	110772897	+	Silent	SNP	T	T	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr4:110772897T>A	ENST00000594814.1	+	2	354	c.354T>A	c.(352-354)gcT>gcA	p.A118A	LRIT3_ENST00000379920.3_Silent_p.A73A|LRIT3_ENST00000327908.3_5'UTR	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	118					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ATTCTCTGGCTGCTTTCCCTT	0.512																																					p.A118A		Atlas-SNP	.											.	LRIT3	107	.	0			c.T354A						.						124.0	103.0	109.0					4																	110772897		692	1591	2283	SO:0001819	synonymous_variant	345193	exon2			TCTGGCTGCTTTC	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.354T>A	chr4.hg19:g.110772897T>A		73.0	0.0		93.0	9.0	NM_198506	C9J1C2|Q6ZTG1	Silent	SNP	ENST00000594814.1	hg19	CCDS3688.3																																																																																			.	.		0.512	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506	
IRX1	79192	hgsc.bcm.edu	37	5	3601148	3601148	+	Silent	SNP	C	C	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr5:3601148C>A	ENST00000302006.3	+	4	1489	c.1437C>A	c.(1435-1437)tcC>tcA	p.S479S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	479					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCCTCCCGTCCGCCTGATTAA	0.582																																					p.S479S		Atlas-SNP	.											.	IRX1	106	.	0			c.C1437A						.						43.0	48.0	46.0					5																	3601148		2203	4299	6502	SO:0001819	synonymous_variant	79192	exon4			CCCGTCCGCCTGA	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1437C>A	chr5.hg19:g.3601148C>A		159.0	0.0		141.0	37.0	NM_024337	Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	hg19	CCDS34132.1																																																																																			.	.		0.582	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337	
RAB3C	115827	hgsc.bcm.edu	37	5	57913469	57913469	+	Splice_Site	SNP	G	G	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr5:57913469G>A	ENST00000282878.4	+	2	193		c.e2-1			NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family						antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TTTTATCACAGATGGCCTCTG	0.413																																					.		Atlas-SNP	.											.	RAB3C	47	.	0			c.25-1G>A						.						54.0	53.0	53.0					5																	57913469		2203	4300	6503	SO:0001630	splice_region_variant	115827	exon2			ATCACAGATGGCC	AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.25-1G>A	chr5.hg19:g.57913469G>A		118.0	0.0		218.0	96.0	NM_138453		Splice_Site	SNP	ENST00000282878.4	hg19	CCDS3976.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343801	0.82022	.	.	ENSG00000152932	ENST00000282878	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8247	0.96612	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAB3C	57949226	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.476000	0.97823	2.696000	0.92011	0.655000	0.94253	.	.	.		0.413	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453	Intron
PCDHB1	29930	hgsc.bcm.edu	37	5	140432309	140432309	+	Silent	SNP	T	T	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr5:140432309T>C	ENST00000306549.3	+	1	1331	c.1254T>C	c.(1252-1254)taT>taC	p.Y418Y		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCAGGCTATAATATCACCA	0.448																																					p.Y418Y		Atlas-SNP	.											.	PCDHB1	148	.	0			c.T1254C						.						102.0	100.0	100.0					5																	140432309		2203	4300	6503	SO:0001819	synonymous_variant	29930	exon1			AGGCTATAATATC	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1254T>C	chr5.hg19:g.140432309T>C		121.0	0.0		147.0	51.0	NM_013340	Q2M257	Silent	SNP	ENST00000306549.3	hg19	CCDS4243.1																																																																																			.	.		0.448	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340	
SPINK5	11005	hgsc.bcm.edu	37	5	147505382	147505382	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr5:147505382A>G	ENST00000256084.7	+	29	2878	c.2836A>G	c.(2836-2838)Aca>Gca	p.T946A	SPINK5_ENST00000359874.3_Missense_Mutation_p.T976A	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	946	Kazal-like 14. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGTTCTATACAAACAAGTG	0.448																																					p.T976A		Atlas-SNP	.											.	SPINK5	245	.	0			c.A2926G						.						256.0	249.0	251.0					5																	147505382		1924	4155	6079	SO:0001583	missense	11005	exon30			TTCTATACAAACA	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2836A>G	chr5.hg19:g.147505382A>G	ENSP00000256084:p.Thr946Ala	111.0	0.0		161.0	77.0	NM_001127698	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	hg19	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.473297	0.01044	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	T;T	0.04156	3.69;3.69	5.37	2.68	0.31781	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.816530	0.10857	N	0.626518	T	0.01730	0.0055	N	0.01779	-0.725	0.09310	N	1	B;B	0.20988	0.05;0.018	B;B	0.26614	0.026;0.071	T	0.48768	-0.9006	10	0.07990	T	0.79	-7.4038	3.6044	0.08037	0.6191:0.2389:0.142:0.0	.	976;946	Q9NQ38-3;Q9NQ38	.;ISK5_HUMAN	A	976;946	ENSP00000352936:T976A;ENSP00000256084:T946A	ENSP00000256084:T946A	T	+	1	0	SPINK5	147485575	0.000000	0.05858	0.065000	0.19835	0.023000	0.10783	0.351000	0.20096	0.969000	0.38237	0.459000	0.35465	ACA	.	.		0.448	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698	
NMUR2	56923	hgsc.bcm.edu	37	5	151771871	151771871	+	Missense_Mutation	SNP	C	C	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr5:151771871C>G	ENST00000255262.3	-	4	1294	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	377					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGACCTATATCTTCGGTCAGC	0.502																																					p.D377H		Atlas-SNP	.											.	NMUR2	111	.	0			c.G1129C						.						160.0	151.0	154.0					5																	151771871		2203	4300	6503	SO:0001583	missense	56923	exon4			CTATATCTTCGGT	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.1129G>C	chr5.hg19:g.151771871C>G	ENSP00000255262:p.Asp377His	109.0	0.0		172.0	79.0	NM_020167	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	hg19	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577213	0.28092	.	.	ENSG00000132911	ENST00000255262	T	0.71103	-0.54	4.37	4.37	0.52481	.	0.363145	0.19974	N	0.101914	T	0.78304	0.4262	M	0.62723	1.935	0.42957	D	0.99439	D	0.62365	0.991	P	0.55112	0.769	T	0.81593	-0.0862	10	0.66056	D	0.02	-13.8738	16.3623	0.83273	0.0:1.0:0.0:0.0	.	377	Q9GZQ4	NMUR2_HUMAN	H	377	ENSP00000255262:D377H	ENSP00000255262:D377H	D	-	1	0	NMUR2	151752064	0.995000	0.38212	0.865000	0.33974	0.033000	0.12548	0.797000	0.26999	2.376000	0.81061	0.467000	0.42956	GAT	.	.		0.502	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167	
GABRA1	2554	hgsc.bcm.edu	37	5	161324165	161324166	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr5:161324165_161324166CC>AA	ENST00000428797.2	+	11	1463_1464	c.1108_1109CC>AA	c.(1108-1110)CCa>AAa	p.P370K	GABRA1_ENST00000444819.1_Missense_Mutation_p.P370K|GABRA1_ENST00000023897.6_Missense_Mutation_p.P370K|GABRA1_ENST00000393943.4_Missense_Mutation_p.P370K|GABRA1_ENST00000420560.1_Missense_Mutation_p.P370K|GABRA1_ENST00000437025.2_Missense_Mutation_p.P370K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	370					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|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)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CACTTACGCTCCAACAGCAACC	0.436																																					p.P370T|p.P370Q		Atlas-SNP	.											.	GABRA1	132	.	0			c.C1108A|c.C1109A						.																																			SO:0001583	missense	2554	exon11			TACGCTCCAACAG|ACGCTCCAACAGC		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	Exception_encountered	chr5.hg19:g.161324165_161324166delinsAA	ENSP00000393097:p.Pro370Lys	181.0|184.0	0.0		234.0|238.0	116.0	NM_001127643	D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	hg19	CCDS4357.1																																																																																			.	.		0.436	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	
ZNF354B	117608	hgsc.bcm.edu	37	5	178310514	178310514	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr5:178310514A>G	ENST00000322434.3	+	5	1287	c.1061A>G	c.(1060-1062)tAc>tGc	p.Y354C	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	354					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(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAAGTCCTACTTATGTAAT	0.403																																					p.Y354C		Atlas-SNP	.											.	ZNF354B	67	.	0			c.A1061G						.						89.0	94.0	92.0					5																	178310514		2203	4300	6503	SO:0001583	missense	117608	exon5			AGTCCTACTTATG	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1061A>G	chr5.hg19:g.178310514A>G	ENSP00000327143:p.Tyr354Cys	241.0	1.0		347.0	152.0	NM_058230	A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	hg19	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031280	0.35797	.	.	ENSG00000178338	ENST00000322434	T	0.19938	2.11	3.62	0.984	0.19773	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15782	0.0380	L	0.51914	1.62	0.21386	N	0.9997	B	0.27229	0.172	B	0.14578	0.011	T	0.28267	-1.0049	9	0.87932	D	0	-2.1273	3.0338	0.06114	0.5323:0.0:0.1151:0.3525	.	354	Q96LW1	Z354B_HUMAN	C	354	ENSP00000327143:Y354C	ENSP00000327143:Y354C	Y	+	2	0	ZNF354B	178243120	0.035000	0.19736	0.996000	0.52242	0.985000	0.73830	1.168000	0.31859	0.479000	0.27511	0.459000	0.35465	TAC	.	.		0.403	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230	
PXDC1	221749	hgsc.bcm.edu	37	6	3751739	3751739	+	Silent	SNP	C	C	A	rs369797402		TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr6:3751739C>A	ENST00000380283.4	-	1	521	c.27G>T	c.(25-27)acG>acT	p.T9T	RP11-420L9.5_ENST00000603791.1_RNA|PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	9	PX.						phosphatidylinositol binding (GO:0035091)										TCACGAGCGACGTGCCCTCAA	0.726																																					p.T9T		Atlas-SNP	.											.	.	.	.	0			c.G27T						.						14.0	13.0	14.0					6																	3751739		2186	4277	6463	SO:0001819	synonymous_variant	221749	exon1			GAGCGACGTGCCC	AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 145"""	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.27G>T	chr6.hg19:g.3751739C>A		126.0	0.0		108.0	43.0	NM_183373	A8K0N3|Q6PGP0|Q86XB7	Silent	SNP	ENST00000380283.4	hg19	CCDS4486.1																																																																																			.	.		0.726	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039688.1	NM_183373	
BMP6	654	hgsc.bcm.edu	37	6	7845445	7845445	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr6:7845445C>T	ENST00000283147.6	+	2	896	c.737C>T	c.(736-738)cCt>cTt	p.P246L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	246					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TCCCAGATTCCTGAGGGTGAG	0.438																																					p.P246L		Atlas-SNP	.											.	BMP6	67	.	0			c.C737T						.						125.0	124.0	124.0					6																	7845445		2203	4300	6503	SO:0001583	missense	654	exon2			AGATTCCTGAGGG	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.737C>T	chr6.hg19:g.7845445C>T	ENSP00000283147:p.Pro246Leu	130.0	0.0		189.0	8.0	NM_001718	Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	hg19	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071294	0.93950	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.70516	-0.49	5.41	5.41	0.78517	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83514	0.5271	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85507	0.1195	10	0.87932	D	0	.	19.1986	0.93699	0.0:1.0:0.0:0.0	.	246	P22004	BMP6_HUMAN	L	168;246;209	ENSP00000283147:P246L	ENSP00000283147:P246L	P	+	2	0	BMP6	7790444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.302000	0.78861	2.528000	0.85240	0.557000	0.71058	CCT	.	.		0.438	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718	
EEF1E1	9521	hgsc.bcm.edu	37	6	8090503	8090503	+	Silent	SNP	T	T	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr6:8090503T>C	ENST00000379715.5	-	3	356	c.300A>G	c.(298-300)tcA>tcG	p.S100S	EEF1E1_ENST00000507463.1_Silent_p.S100S|EEF1E1-BLOC1S5_ENST00000397456.2_Silent_p.S100S|EEF1E1_ENST00000429723.2_Silent_p.S100S	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	100	C-terminal.|GST C-terminal.				gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					CTTCAAGATATGAATTAAGAT	0.249																																					p.S100S		Atlas-SNP	.											.	EEF1E1	11	.	0			c.A300G						.						46.0	46.0	46.0					6																	8090503		2192	4284	6476	SO:0001819	synonymous_variant	9521	exon3			AAGATATGAATTA	AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"""aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"""	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.300A>G	chr6.hg19:g.8090503T>C		145.0	0.0		222.0	92.0	NM_001135650	C9JLK5|Q5THS2	Silent	SNP	ENST00000379715.5	hg19	CCDS4507.1	.	.	.	.	.	.	.	.	.	.	T	8.223	0.802981	0.16397	.	.	ENSG00000124802	ENST00000502429	.	.	.	4.82	-9.65	0.00537	.	.	.	.	.	T	0.09555	0.0235	.	.	.	0.33570	D	0.598482	.	.	.	.	.	.	T	0.05920	-1.0856	4	.	.	.	-3.2086	0.7347	0.00963	0.3725:0.2543:0.1968:0.1763	.	.	.	.	R	87	.	.	H	-	2	0	EEF1E1	8035502	0.000000	0.05858	0.818000	0.32626	0.945000	0.59286	-2.866000	0.00723	-1.935000	0.01049	0.379000	0.24179	CAT	.	.		0.249	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039799.2	NM_004280	
NOTCH4	4855	hgsc.bcm.edu	37	6	32166815	32166815	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr6:32166815G>A	ENST00000375023.3	-	24	4561	c.4423C>T	c.(4423-4425)Cgc>Tgc	p.R1475C	NOTCH4_ENST00000443903.2_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1475	Poly-Arg.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGCTCTCGGCGTCGACGCCGG	0.677																																					p.R1475C		Atlas-SNP	.											.	NOTCH4	201	.	0			c.C4423T						.						52.0	66.0	61.0					6																	32166815		1508	2707	4215	SO:0001583	missense	4855	exon24			CTCGGCGTCGACG		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4423C>T	chr6.hg19:g.32166815G>A	ENSP00000364163:p.Arg1475Cys	168.0	0.0		178.0	68.0	NM_004557	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	hg19	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651320	0.47362	.	.	ENSG00000204301	ENST00000375023	D	0.84070	-1.8	4.9	4.02	0.46733	.	0.000000	0.44097	D	0.000483	D	0.88115	0.6350	M	0.77486	2.375	0.80722	D	1	P;D	0.89917	0.553;1.0	B;D	0.83275	0.069;0.996	D	0.89834	0.3998	10	0.87932	D	0	.	12.6217	0.56607	0.0:0.0:0.833:0.167	.	1475;1474	Q99466;B0S882	NOTC4_HUMAN;.	C	1475	ENSP00000364163:R1475C	ENSP00000364163:R1475C	R	-	1	0	NOTCH4	32274793	0.847000	0.29606	0.144000	0.22314	0.130000	0.20726	2.251000	0.43187	1.405000	0.46838	-0.324000	0.08512	CGC	.	.		0.677	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		
TBCC	6903	hgsc.bcm.edu	37	6	42713787	42713787	+	Missense_Mutation	SNP	C	C	A	rs555582056		TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr6:42713787C>A	ENST00000372876.1	-	1	47	c.25G>T	c.(25-27)Gct>Tct	p.A9S	TBCC_ENST00000244625.2_Missense_Mutation_p.A9S	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	9					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CTGACAGCAGCAGCGGAGCAA	0.612																																					p.A9S		Atlas-SNP	.											.	TBCC	31	.	0			c.G25T						.						48.0	49.0	48.0					6																	42713787		2203	4300	6503	SO:0001583	missense	6903	exon1			CAGCAGCAGCGGA	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.25G>T	chr6.hg19:g.42713787C>A	ENSP00000361967:p.Ala9Ser	108.0	0.0		85.0	20.0	NM_003192	Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	hg19	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	C	6.498	0.460051	0.12342	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	T;T	0.15139	2.45;2.45	5.04	3.26	0.37387	.	1.119980	0.06952	U	0.814750	T	0.07638	0.0192	L	0.57536	1.79	0.09310	N	1	B	0.27823	0.19	B	0.27608	0.081	T	0.42396	-0.9454	10	0.25106	T	0.35	-2.0378	10.9818	0.47499	0.0:0.8433:0.0:0.1567	.	9	Q15814	TBCC_HUMAN	S	9	ENSP00000361967:A9S;ENSP00000244625:A9S	ENSP00000244625:A9S	A	-	1	0	TBCC	42821765	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.058000	0.14301	0.641000	0.30601	0.563000	0.77884	GCT	.	.		0.612	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192	
HSP90AB1	3326	hgsc.bcm.edu	37	6	44218166	44218166	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr6:44218166A>G	ENST00000371554.1	+	6	1001	c.787A>G	c.(787-789)Aag>Gag	p.K263E	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.K263E|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.K263E			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	263					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			tgacagcggtaaggataagaa	0.403																																					p.K263E		Atlas-SNP	.											.	HSP90AB1	83	.	0			c.A787G						.						61.0	58.0	59.0					6																	44218166		2203	4300	6503	SO:0001583	missense	3326	exon6			AGCGGTAAGGATA	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.787A>G	chr6.hg19:g.44218166A>G	ENSP00000360609:p.Lys263Glu	263.0	0.0		255.0	84.0	NM_007355	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	hg19	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.644627	0.29246	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.07908	3.15;3.15;3.15	4.41	4.41	0.53225	.	0.395534	0.21317	U	0.076531	T	0.08447	0.0210	L	0.35288	1.05	0.80722	D	1	B;D;B	0.57257	0.0;0.979;0.0	B;D;B	0.71414	0.003;0.973;0.001	T	0.37337	-0.9710	10	0.15066	T	0.55	-16.4717	13.3386	0.60533	1.0:0.0:0.0:0.0	.	225;253;263	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	E	263	ENSP00000360709:K263E;ENSP00000325875:K263E;ENSP00000360609:K263E	ENSP00000325875:K263E	K	+	1	0	HSP90AB1	44326144	1.000000	0.71417	0.352000	0.25734	0.523000	0.34469	5.694000	0.68272	1.643000	0.50594	0.377000	0.23210	AAG	.	.		0.403	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355	
TDRD6	221400	hgsc.bcm.edu	37	6	46656123	46656123	+	Silent	SNP	G	G	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr6:46656123G>T	ENST00000316081.6	+	1	258	c.258G>T	c.(256-258)gtG>gtT	p.V86V	TDRD6_ENST00000544460.1_Silent_p.V86V|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	86	Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCTGCCGCGTGGTCAGCCGGC	0.741																																					p.V86V		Atlas-SNP	.											.	TDRD6	205	.	0			c.G258T						.						5.0	7.0	6.0					6																	46656123		1961	3850	5811	SO:0001819	synonymous_variant	221400	exon1			CCGCGTGGTCAGC	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.258G>T	chr6.hg19:g.46656123G>T		54.0	0.0		76.0	30.0	NM_001168359	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	hg19	CCDS34470.1																																																																																			.	.		0.741	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
DEFB113	245927	hgsc.bcm.edu	37	6	49936539	49936539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr6:49936539C>A	ENST00000398718.1	-	2	99	c.100G>T	c.(100-102)Gaa>Taa	p.E34*		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	34					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					AGCTGACATTCTCTTTTTCTC	0.398																																					p.E34X		Atlas-SNP	.											.	DEFB113	18	.	0			c.G100T						.						108.0	104.0	106.0					6																	49936539		1883	4100	5983	SO:0001587	stop_gained	245927	exon2			GACATTCTCTTTT	DQ012017	CCDS43472.1	6p12.3	2010-03-30			ENSG00000214642	ENSG00000214642		"""Defensins, beta"""	18094	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037729		Approved	DEFB-13	uc011dwq.2	Q30KQ7	OTTHUMG00000160210	ENST00000398718.1:c.100G>T	chr6.hg19:g.49936539C>A	ENSP00000381703:p.Glu34*	39.0	0.0		88.0	34.0	NM_001037729		Nonsense_Mutation	SNP	ENST00000398718.1	hg19	CCDS43472.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412861	0.25465	.	.	ENSG00000214642	ENST00000398718	.	.	.	4.15	0.0686	0.14370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.5634	4.9287	0.13907	0.0:0.4178:0.3875:0.1947	.	.	.	.	X	34	.	.	E	-	1	0	DEFB113	50044498	0.074000	0.21230	0.369000	0.25952	0.287000	0.27160	-0.023000	0.12456	-0.109000	0.12044	0.557000	0.71058	GAA	.	.		0.398	DEFB113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359666.1		
AK9	221264	hgsc.bcm.edu	37	6	109867191	109867191	+	Missense_Mutation	SNP	T	T	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr6:109867191T>A	ENST00000424296.2	-	26	3180	c.3104A>T	c.(3103-3105)gAa>gTa	p.E1035V	AK9_ENST00000355283.1_Missense_Mutation_p.E114V|AK9_ENST00000341338.6_Missense_Mutation_p.E114V	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1035	Adenylate kinase 2.|NMPbind 2. {ECO:0000250}.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CACTTTCTTTTCAGTTTTGAG	0.378																																					p.E1035V		Atlas-SNP	.											.	AKD1	223	.	0			c.A3104T						.						98.0	98.0	98.0					6																	109867191		2203	4300	6503	SO:0001583	missense	221264	exon26			TTCTTTTCAGTTT	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3104A>T	chr6.hg19:g.109867191T>A	ENSP00000410186:p.Glu1035Val	171.0	0.0		259.0	122.0	NM_001145128	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	hg19	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.296198	0.40594	.	.	ENSG00000155085	ENST00000424296;ENST00000355283;ENST00000341338	T;T;T	0.66815	-0.23;0.87;0.87	5.32	2.94	0.34122	ATPase, AAA+ type, core (1);	0.196192	0.46758	D	0.000276	T	0.55513	0.1925	M	0.74389	2.26	0.25945	N	0.982822	P;D	0.54397	0.589;0.966	B;P	0.49012	0.229;0.598	T	0.52328	-0.8590	9	.	.	.	.	8.7351	0.34523	0.0:0.2175:0.0:0.7825	.	114;1035	Q5TCS8-5;Q5TCS8	.;AKD1_HUMAN	V	1035;114;114	ENSP00000410186:E1035V;ENSP00000347431:E114V;ENSP00000344637:E114V	.	E	-	2	0	AKD1	109973884	0.991000	0.36638	0.543000	0.28128	0.821000	0.46438	2.004000	0.40854	0.433000	0.26313	-0.379000	0.06801	GAA	.	.		0.378	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128	
GPRC6A	222545	hgsc.bcm.edu	37	6	117113979	117113979	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr6:117113979T>C	ENST00000310357.3	-	6	2128	c.2107A>G	c.(2107-2109)Aga>Gga	p.R703G	GPRC6A_ENST00000368549.3_Missense_Mutation_p.R632G|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R528G	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	703					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AGGATCGGTCTATAGAGGCAC	0.423																																					p.R703G		Atlas-SNP	.											.	GPRC6A	152	.	0			c.A2107G						.						76.0	73.0	74.0					6																	117113979		2203	4300	6503	SO:0001583	missense	222545	exon6			TCGGTCTATAGAG	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2107A>G	chr6.hg19:g.117113979T>C	ENSP00000309493:p.Arg703Gly	120.0	0.0		225.0	119.0	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	hg19	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	T	5.391	0.257404	0.10239	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.87491	-2.26;-2.26;-2.26	4.61	4.61	0.57282	GPCR, family 3, C-terminal (2);	0.203142	0.34002	N	0.004347	T	0.55940	0.1952	N	0.04116	-0.275	0.24901	N	0.992108	B;B;B	0.19200	0.0;0.027;0.034	B;B;B	0.20577	0.004;0.018;0.03	T	0.42155	-0.9468	10	0.15952	T	0.53	.	14.16	0.65441	0.0:0.0:0.0:1.0	.	632;528;703	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	G	703;632;528	ENSP00000309493:R703G;ENSP00000357537:R632G;ENSP00000433465:R528G	ENSP00000309493:R703G	R	-	1	2	GPRC6A	117220672	1.000000	0.71417	0.937000	0.37676	0.040000	0.13550	2.355000	0.44107	1.933000	0.56026	0.482000	0.46254	AGA	.	.		0.423	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2		
MAD1L1	8379	hgsc.bcm.edu	37	7	1997344	1997344	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr7:1997344C>T	ENST00000406869.1	-	16	2073	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	MAD1L1_ENST00000265854.7_Missense_Mutation_p.E506K|MAD1L1_ENST00000399654.2_Missense_Mutation_p.E506K|MAD1L1_ENST00000402746.1_Missense_Mutation_p.E414K			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	506	Necessary for interaction with NEK2.				mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCCAGCTCCTCGACCTTCAAC	0.627																																					p.E506K		Atlas-SNP	.											.	MAD1L1	81	.	0			c.G1516A						.						50.0	57.0	55.0					7																	1997344		2132	4233	6365	SO:0001583	missense	8379	exon16			GCTCCTCGACCTT	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1516G>A	chr7.hg19:g.1997344C>T	ENSP00000385334:p.Glu506Lys	132.0	0.0		95.0	40.0	NM_003550	B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	hg19	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629487	0.67015	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000438959	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	M	0.64260	1.97	0.52099	D	0.999945	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.988;0.988	T	0.15549	-1.0433	10	0.21014	T	0.42	-34.5149	16.9161	0.86152	0.0:1.0:0.0:0.0	.	505;414;506	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	K	414;506;506;57;506;57;173	ENSP00000384155:E414K;ENSP00000382562:E506K;ENSP00000385334:E506K;ENSP00000265854:E506K;ENSP00000394886:E57K;ENSP00000414877:E173K	ENSP00000265854:E506K	E	-	1	0	MAD1L1	1963870	1.000000	0.71417	0.921000	0.36526	0.031000	0.12232	5.065000	0.64344	2.209000	0.71365	0.462000	0.41574	GAG	.	.		0.627	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550	
NFE2L3	9603	hgsc.bcm.edu	37	7	26224374	26224374	+	Silent	SNP	T	T	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr7:26224374T>G	ENST00000056233.3	+	4	1315	c.1056T>G	c.(1054-1056)ccT>ccG	p.P352P		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	352					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CCACCAATCCTGAGCAAACCC	0.408																																					p.P352P		Atlas-SNP	.											.	NFE2L3	77	.	0			c.T1056G						.						93.0	87.0	89.0					7																	26224374		2203	4300	6503	SO:0001819	synonymous_variant	9603	exon4			CAATCCTGAGCAA	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1056T>G	chr7.hg19:g.26224374T>G		164.0	0.0		230.0	104.0	NM_004289	Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	ENST00000056233.3	hg19	CCDS5396.1																																																																																			.	.		0.408	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1		
PCLO	27445	hgsc.bcm.edu	37	7	82764194	82764194	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr7:82764194G>T	ENST00000333891.9	-	3	3009	c.2672C>A	c.(2671-2673)aCa>aAa	p.T891K	PCLO_ENST00000423517.2_Missense_Mutation_p.T891K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGTTGAGGTGTGGGGACAGT	0.532																																					p.T891K		Atlas-SNP	.											.	PCLO	1506	.	0			c.C2672A						.						197.0	196.0	196.0					7																	82764194		1988	4162	6150	SO:0001583	missense	27445	exon3			TGAGGTGTGGGGA	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2672C>A	chr7.hg19:g.82764194G>T	ENSP00000334319:p.Thr891Lys	126.0	0.0		134.0	54.0	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	8.810	0.934925	0.18206	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15017	2.46;2.46	6.07	-2.2	0.06994	.	.	.	.	.	T	0.08935	0.0221	N	0.22421	0.69	0.09310	N	1	B;B	0.20988	0.05;0.05	B;B	0.18871	0.023;0.023	T	0.36237	-0.9756	9	0.87932	D	0	.	1.5701	0.02613	0.3412:0.0892:0.3372:0.2324	.	891;891	Q9Y6V0-5;Q9Y6V0-6	.;.	K	837;891;891	ENSP00000334319:T891K;ENSP00000388393:T891K	ENSP00000334319:T891K	T	-	2	0	PCLO	82602130	0.000000	0.05858	0.001000	0.08648	0.845000	0.48019	-0.282000	0.08445	-0.082000	0.12640	0.655000	0.94253	ACA	.	.		0.532	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
STEAP2	261729	hgsc.bcm.edu	37	7	89856657	89856657	+	Missense_Mutation	SNP	A	A	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr7:89856657A>T	ENST00000287908.3	+	3	1258	c.865A>T	c.(865-867)Agg>Tgg	p.R289W	STEAP2_ENST00000394621.2_Missense_Mutation_p.R289W|STEAP2_ENST00000394626.1_Missense_Mutation_p.R289W|STEAP2_ENST00000394622.2_Missense_Mutation_p.R289W|STEAP2_ENST00000402625.2_Missense_Mutation_p.R289W|STEAP2_ENST00000394629.2_Missense_Mutation_p.R289W|STEAP2_ENST00000394632.1_Missense_Mutation_p.R289W	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	289	Ferric oxidoreductase.				copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CACCAAGTATAGGAGATTTCC	0.428																																					p.R289W		Atlas-SNP	.											.	STEAP2	78	.	0			c.A865T						.						87.0	86.0	87.0					7																	89856657		2203	4300	6503	SO:0001583	missense	261729	exon4			AAGTATAGGAGAT	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.865A>T	chr7.hg19:g.89856657A>T	ENSP00000287908:p.Arg289Trp	107.0	0.0		154.0	56.0	NM_001244946	A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	ENST00000287908.3	hg19	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.864351	0.71949	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	D;D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	6.04	3.47	0.39725	Flavoprotein transmembrane component (1);	0.043679	0.85682	D	0.000000	D	0.93861	0.8036	M	0.72118	2.19	0.44547	D	0.997508	D;D;D;D	0.67145	0.996;0.994;0.986;0.986	D;D;D;P	0.68039	0.925;0.955;0.928;0.895	D	0.93354	0.6721	9	.	.	.	-12.1991	13.9666	0.64213	0.5677:0.4323:0.0:0.0	.	289;289;289;289	G5E9C6;Q6YPB2;Q8NFT2;B5MC02	.;.;STEA2_HUMAN;.	W	289	ENSP00000287908:R289W;ENSP00000378123:R289W;ENSP00000378120:R289W;ENSP00000378128:R289W;ENSP00000378119:R289W;ENSP00000384191:R289W;ENSP00000378125:R289W	.	R	+	1	2	STEAP2	89694593	0.999000	0.42202	1.000000	0.80357	0.945000	0.59286	2.588000	0.46137	1.021000	0.39600	0.460000	0.39030	AGG	.	.		0.428	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999	
PEX1	5189	hgsc.bcm.edu	37	7	92134134	92134134	+	Silent	SNP	C	C	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr7:92134134C>G	ENST00000248633.4	-	12	2078	c.1983G>C	c.(1981-1983)ctG>ctC	p.L661L	PEX1_ENST00000541751.1_Silent_p.L78L|PEX1_ENST00000428214.1_Intron|PEX1_ENST00000438045.1_Silent_p.L339L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	661			Missing (in PBD1A and PBD1B). {ECO:0000269|PubMed:9539740}.		ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CAAGGTCATCCAGCAGGACAA	0.502																																					p.L661L		Atlas-SNP	.											.	PEX1	102	.	0			c.G1983C						.						180.0	166.0	171.0					7																	92134134		2203	4300	6503	SO:0001819	synonymous_variant	5189	exon12			GTCATCCAGCAGG	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1983G>C	chr7.hg19:g.92134134C>G		66.0	0.0		65.0	27.0	NM_000466	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	hg19	CCDS5627.1																																																																																			.	.		0.502	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466	
ZNF394	84124	hgsc.bcm.edu	37	7	99096409	99096409	+	Silent	SNP	G	G	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr7:99096409G>A	ENST00000337673.6	-	2	716	c.513C>T	c.(511-513)cgC>cgT	p.R171R	ZNF394_ENST00000426306.2_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	171	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTGGGTCCAGGCGCTCCCACT	0.582																																					p.R171R	Ovarian(24;589 697 9939 12704 40742)	Atlas-SNP	.											.	ZNF394	48	.	0			c.C513T						.						116.0	90.0	98.0					7																	99096409		2203	4300	6503	SO:0001819	synonymous_variant	84124	exon2			GTCCAGGCGCTCC	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.513C>T	chr7.hg19:g.99096409G>A		76.0	0.0		86.0	38.0	NM_032164	A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Silent	SNP	ENST00000337673.6	hg19	CCDS5666.1																																																																																			.	.		0.582	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164	
RELN	5649	hgsc.bcm.edu	37	7	103363632	103363632	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr7:103363632T>C	ENST00000428762.1	-	8	919	c.760A>G	c.(760-762)Aca>Gca	p.T254A	RELN_ENST00000424685.2_Missense_Mutation_p.T254A|RELN_ENST00000343529.5_Missense_Mutation_p.T254A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	254					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTAAGGCCTGTGGTAATCTAA	0.363																																					p.T254A	NSCLC(146;835 1944 15585 22231 52158)	Atlas-SNP	.											.	RELN	593	.	0			c.A760G						.						74.0	74.0	74.0					7																	103363632		2203	4300	6503	SO:0001583	missense	5649	exon8			GGCCTGTGGTAAT		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.760A>G	chr7.hg19:g.103363632T>C	ENSP00000392423:p.Thr254Ala	208.0	0.0		218.0	68.0	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	hg19	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	9.169	1.020621	0.19433	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.21734	1.99;1.99;1.99	5.38	4.21	0.49690	.	0.246949	0.41938	D	0.000795	T	0.14141	0.0342	L	0.29908	0.895	0.23282	N	0.997989	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11842	-1.0571	10	0.30854	T	0.27	.	8.9933	0.36037	0.0:0.149:0.0:0.851	.	254;254	P78509-2;P78509	.;RELN_HUMAN	A	254	ENSP00000392423:T254A;ENSP00000345694:T254A;ENSP00000388446:T254A	ENSP00000345694:T254A	T	-	1	0	RELN	103150868	0.995000	0.38212	0.997000	0.53966	0.981000	0.71138	1.097000	0.30988	2.155000	0.67459	0.482000	0.46254	ACA	.	.		0.363	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
HBP1	26959	hgsc.bcm.edu	37	7	106822886	106822886	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr7:106822886G>A	ENST00000222574.4	+	3	424	c.238G>A	c.(238-240)Gat>Aat	p.D80N	HBP1_ENST00000485846.1_Missense_Mutation_p.D80N|HBP1_ENST00000468410.1_Missense_Mutation_p.D80N	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	80					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						GCTGAGTTCAGATGTTTCACA	0.413																																					p.D90N		Atlas-SNP	.											.	HBP1	31	.	0			c.G268A						.						106.0	93.0	98.0					7																	106822886		2203	4300	6503	SO:0001583	missense	26959	exon3			AGTTCAGATGTTT	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.238G>A	chr7.hg19:g.106822886G>A	ENSP00000222574:p.Asp80Asn	113.0	0.0		118.0	12.0	NM_001244262	B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	hg19	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845485	0.71603	.	.	ENSG00000105856	ENST00000468410;ENST00000464009;ENST00000222574;ENST00000497535;ENST00000485846;ENST00000479011;ENST00000498408	D;D;D	0.99167	-5.51;-5.51;-5.51	5.85	5.85	0.93711	.	0.093671	0.85682	D	0.000000	D	0.96580	0.8884	N	0.24115	0.695	0.43408	D	0.995548	B;P;P	0.38504	0.281;0.634;0.501	B;B;B	0.34242	0.027;0.178;0.086	D	0.96833	0.9612	10	0.66056	D	0.02	-5.9031	16.4237	0.83790	0.0:0.1313:0.8687:0.0	.	90;80;80	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	N	80;80;80;80;80;80;72	ENSP00000420500:D80N;ENSP00000222574:D80N;ENSP00000418738:D80N	ENSP00000222574:D80N	D	+	1	0	HBP1	106610122	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.000000	0.76290	2.774000	0.95407	0.563000	0.77884	GAT	.	.		0.413	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257	
LMOD2	442721	hgsc.bcm.edu	37	7	123302963	123302963	+	Silent	SNP	T	T	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr7:123302963T>A	ENST00000458573.2	+	2	1480	c.1323T>A	c.(1321-1323)ccT>ccA	p.P441P	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	441	Pro-rich.					cytoskeleton (GO:0005856)		p.P441P(1)									tgccaccacctcctcctcctc	0.572																																					p.P441P		Atlas-SNP	.											LMOD2_ENST00000458573,NS,carcinoma,0,1	LMOD2	62	.	1	Substitution - coding silent(1)	endometrium(1)	c.T1323A						.						19.0	18.0	19.0					7																	123302963		1881	4064	5945	SO:0001819	synonymous_variant	442721	exon2			ACCACCTCCTCCT	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.1323T>A	chr7.hg19:g.123302963T>A		73.0	0.0		77.0	4.0	NM_207163	A4D0W9|A4D0Y2|Q8WVJ8	Silent	SNP	ENST00000458573.2	hg19	CCDS47693.1																																																																																			.	.		0.572	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1		
TMEM229A	730130	hgsc.bcm.edu	37	7	123672479	123672479	+	Silent	SNP	C	C	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr7:123672479C>T	ENST00000455783.1	-	1	1044	c.579G>A	c.(577-579)caG>caA	p.Q193Q	RP5-921G16.1_ENST00000484322.1_RNA	NM_001136002.1	NP_001129474.1	B2RXF0	T229A_HUMAN	transmembrane protein 229A	193						host cell nucleus (GO:0042025)|integral component of membrane (GO:0016021)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)	6						gctgctgctgctgctgttgct	0.731																																					p.Q193Q		Atlas-SNP	.											.	TMEM229A	31	.	0			c.G579A						.						2.0	3.0	3.0					7																	123672479		422	1152	1574	SO:0001819	synonymous_variant	730130	exon1			CTGCTGCTGCTGT	BC157828	CCDS47694.1	7q31.32	2009-09-22			ENSG00000234224	ENSG00000234224			37279	protein-coding gene	gene with protein product							Standard	NM_001136002		Approved		uc011kob.2	B2RXF0	OTTHUMG00000154762	ENST00000455783.1:c.579G>A	chr7.hg19:g.123672479C>T		50.0	0.0		52.0	5.0	NM_001136002	A4D0X6	Silent	SNP	ENST00000455783.1	hg19	CCDS47694.1																																																																																			.	.		0.731	TMEM229A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336960.3	NM_001136002	
TMEM229A	730130	hgsc.bcm.edu	37	7	123672485	123672485	+	Silent	SNP	T	T	C	rs527643423	byFrequency	TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr7:123672485T>C	ENST00000455783.1	-	1	1038	c.573A>G	c.(571-573)caA>caG	p.Q191Q	RP5-921G16.1_ENST00000484322.1_RNA	NM_001136002.1	NP_001129474.1	B2RXF0	T229A_HUMAN	transmembrane protein 229A	191						host cell nucleus (GO:0042025)|integral component of membrane (GO:0016021)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)	6						gctgctgctgttgctgctgcc	0.726													t|||	115	0.0229633	0.0552	0.0086	5008	,	,		10756	0.0079		0.0129	False		,,,				2504	0.0153				p.Q191Q		Atlas-SNP	.											.	TMEM229A	31	.	0			c.A573G						.						2.0	4.0	3.0					7																	123672485		466	1222	1688	SO:0001819	synonymous_variant	730130	exon1			CTGCTGTTGCTGC	BC157828	CCDS47694.1	7q31.32	2009-09-22			ENSG00000234224	ENSG00000234224			37279	protein-coding gene	gene with protein product							Standard	NM_001136002		Approved		uc011kob.2	B2RXF0	OTTHUMG00000154762	ENST00000455783.1:c.573A>G	chr7.hg19:g.123672485T>C		52.0	0.0		54.0	5.0	NM_001136002	A4D0X6	Silent	SNP	ENST00000455783.1	hg19	CCDS47694.1																																																																																			.	.		0.726	TMEM229A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336960.3	NM_001136002	
ZYX	7791	hgsc.bcm.edu	37	7	143080168	143080168	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr7:143080168C>A	ENST00000322764.5	+	5	1121	c.776C>A	c.(775-777)tCt>tAt	p.S259Y	ZYX_ENST00000392910.2_Missense_Mutation_p.S102Y|ZYX_ENST00000477373.1_3'UTR|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000449423.2_Missense_Mutation_p.S172Y	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	259					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CCAGCCTCATCTCCGGCTCCA	0.607																																					p.S259Y		Atlas-SNP	.											.	ZYX	46	.	0			c.C776A						.						116.0	145.0	135.0					7																	143080168		2203	4300	6503	SO:0001583	missense	7791	exon5			CCTCATCTCCGGC	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.776C>A	chr7.hg19:g.143080168C>A	ENSP00000324422:p.Ser259Tyr	164.0	0.0		125.0	70.0	NM_003461	A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	hg19	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	C	0.097	-1.157397	0.01686	.	.	ENSG00000159840	ENST00000322764;ENST00000354434;ENST00000449423;ENST00000392910	T;T;T;T	0.54071	0.67;0.64;0.63;0.59	4.02	3.12	0.35913	.	1.134650	0.06812	U	0.790514	T	0.44477	0.1295	L	0.36672	1.1	0.09310	N	1	P;P	0.39576	0.679;0.454	B;B	0.37833	0.259;0.259	T	0.36553	-0.9743	10	0.49607	T	0.09	.	9.2961	0.37815	0.0:0.8983:0.0:0.1017	.	172;259	B4DQR8;Q15942	.;ZYX_HUMAN	Y	259;227;172;102	ENSP00000324422:S259Y;ENSP00000346417:S227Y;ENSP00000394158:S172Y;ENSP00000376642:S102Y	ENSP00000324422:S259Y	S	+	2	0	ZYX	142790290	0.163000	0.22920	0.004000	0.12327	0.283000	0.27025	4.938000	0.63519	1.795000	0.52594	0.655000	0.94253	TCT	.	.		0.607	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461	
ADAM28	10863	hgsc.bcm.edu	37	8	24181394	24181394	+	Silent	SNP	C	C	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr8:24181394C>A	ENST00000265769.4	+	9	878	c.768C>A	c.(766-768)atC>atA	p.I256I	ADAM28_ENST00000540823.1_Silent_p.I23I|ADAM28_ENST00000437154.2_Silent_p.I256I|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Silent_p.I3I|ADAM28_ENST00000518516.1_3'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	256	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTATGGAAATCTGGACTGACA	0.363																																					p.I256I	NSCLC(193;488 2149 22258 34798 40734)	Atlas-SNP	.											.	ADAM28	100	.	0			c.C768A						.						93.0	93.0	93.0					8																	24181394		2203	4299	6502	SO:0001819	synonymous_variant	10863	exon9			GGAAATCTGGACT	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.768C>A	chr8.hg19:g.24181394C>A		86.0	0.0		88.0	8.0	NM_014265	B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	hg19	CCDS34865.1																																																																																			.	.		0.363	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
IMPA1	3612	hgsc.bcm.edu	37	8	82583199	82583199	+	Missense_Mutation	SNP	T	T	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr8:82583199T>G	ENST00000256108.5	-	7	1006	c.541A>C	c.(541-543)Aag>Cag	p.K181Q	IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000449740.2_Missense_Mutation_p.K240Q|IMPA1_ENST00000311489.4_Intron	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	181					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	CAAAAAAGCTTTTCCATATTA	0.373																																					p.K240Q		Atlas-SNP	.											.	IMPA1	46	.	0			c.A718C						.						74.0	68.0	70.0					8																	82583199		2203	4300	6503	SO:0001583	missense	3612	exon8			AAAGCTTTTCCAT		CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.541A>C	chr8.hg19:g.82583199T>G	ENSP00000256108:p.Lys181Gln	263.0	0.0		513.0	95.0	NM_001144878	B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Missense_Mutation	SNP	ENST00000256108.5	hg19	CCDS6231.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.26|11.26	1.586328|1.586328	0.28268|0.28268	.|.	.|.	ENSG00000133731|ENSG00000133731	ENST00000256108;ENST00000449740;ENST00000519964;ENST00000521360|ENST00000523942	T;T;T;T|.	0.53206|.	0.63;0.63;0.63;0.63|.	4.16|4.16	4.16|4.16	0.48862|0.48862	.|.	0.584488|0.584488	0.19380|0.19380	N|N	0.115699|0.115699	T|T	0.60261|0.60261	0.2255|0.2255	L|L	0.47716|0.47716	1.5|1.5	0.41322|0.41322	D|D	0.987185|0.987185	P;B|.	0.34977|.	0.478;0.098|.	B;B|.	0.36534|.	0.227;0.079|.	T|T	0.58255|0.58255	-0.7668|-0.7668	10|6	0.46703|.	T|.	0.11|.	-14.8569|-14.8569	13.155|13.155	0.59511|0.59511	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	240;181|.	B7Z6Q4;P29218|.	.;IMPA1_HUMAN|.	Q|T	181;240;173;146|205	ENSP00000256108:K181Q;ENSP00000408526:K240Q;ENSP00000429322:K173Q;ENSP00000430283:K146Q|.	ENSP00000256108:K181Q|.	K|K	-|-	1|2	0|0	IMPA1|IMPA1	82745754|82745754	1.000000|1.000000	0.71417|0.71417	0.803000|0.803000	0.32268|0.32268	0.268000|0.268000	0.26511|0.26511	5.486000|5.486000	0.66856|0.66856	1.632000|1.632000	0.50472|0.50472	0.443000|0.443000	0.29094|0.29094	AAG|AAA	.	.		0.373	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379723.1		
SPAG1	6674	hgsc.bcm.edu	37	8	101206459	101206459	+	Missense_Mutation	SNP	A	A	C	rs56246127	byFrequency	TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr8:101206459A>C	ENST00000388798.2	+	10	1250	c.1059A>C	c.(1057-1059)aaA>aaC	p.K353N	SPAG1_ENST00000520643.1_Missense_Mutation_p.K353N|SPAG1_ENST00000520508.1_Missense_Mutation_p.K353N|SPAG1_ENST00000251809.3_Missense_Mutation_p.K353N	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	353					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AAGAAGGAAAAAGCGGAAGAA	0.358																																					p.K353N		Atlas-SNP	.											.	SPAG1	80	.	0			c.A1059C						.						64.0	64.0	64.0					8																	101206459		2203	4300	6503	SO:0001583	missense	6674	exon10			AGGAAAAAGCGGA	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.1059A>C	chr8.hg19:g.101206459A>C	ENSP00000373450:p.Lys353Asn	592.0	0.0		1241.0	56.0	NM_003114	A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	hg19	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	A	0.762	-0.768896	0.02974	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.63417	2.83;-0.04;2.83;-0.04	5.39	0.943	0.19531	.	0.615169	0.15977	N	0.235509	T	0.48370	0.1496	L	0.41824	1.3	0.09310	N	1	P;P	0.44195	0.828;0.804	B;B	0.41764	0.366;0.16	T	0.32188	-0.9916	10	0.32370	T	0.25	-15.8264	6.443	0.21861	0.5813:0.0:0.4187:0.0	.	353;353	Q07617;G3XAM3	SPAG1_HUMAN;.	N	353	ENSP00000427716:K353N;ENSP00000251809:K353N;ENSP00000428070:K353N;ENSP00000373450:K353N	ENSP00000251809:K353N	K	+	3	2	SPAG1	101275635	0.154000	0.22792	0.011000	0.14972	0.025000	0.11179	1.135000	0.31454	0.261000	0.21753	-0.425000	0.05940	AAA	.	.		0.358	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218	
CSMD3	114788	hgsc.bcm.edu	37	8	113694807	113694807	+	Silent	SNP	C	C	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr8:113694807C>A	ENST00000297405.5	-	16	2785	c.2541G>T	c.(2539-2541)ggG>ggT	p.G847G	CSMD3_ENST00000352409.3_Silent_p.G847G|CSMD3_ENST00000455883.2_Silent_p.G743G|CSMD3_ENST00000343508.3_Silent_p.G807G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	847	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAAAGTTGTCCCCAAACCGCC	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.G847G		Atlas-SNP	.											.	CSMD3	2325	.	0			c.G2541T						.						107.0	107.0	107.0					8																	113694807		2203	4300	6503	SO:0001819	synonymous_variant	114788	exon16			GTTGTCCCCAAAC	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2541G>T	chr8.hg19:g.113694807C>A		109.0	0.0		195.0	122.0	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	hg19	CCDS6315.1																																																																																			.	.		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
COLEC10	10584	hgsc.bcm.edu	37	8	120103443	120103443	+	Silent	SNP	G	G	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr8:120103443G>T	ENST00000332843.2	+	3	317	c.276G>T	c.(274-276)ggG>ggT	p.G92G	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	92	Collagen-like.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GCAAGACTGGGCCCATTGGGA	0.423																																					p.G92G		Atlas-SNP	.											.	COLEC10	46	.	0			c.G276T						.						143.0	135.0	138.0					8																	120103443		2203	4300	6503	SO:0001819	synonymous_variant	10584	exon3			GACTGGGCCCATT	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.276G>T	chr8.hg19:g.120103443G>T		180.0	0.0		393.0	82.0	NM_006438	Q3SYH6|Q6UW19	Silent	SNP	ENST00000332843.2	hg19	CCDS6327.1																																																																																			.	.		0.423	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1		
FER1L6	654463	hgsc.bcm.edu	37	8	125083748	125083748	+	Splice_Site	SNP	G	G	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr8:125083748G>T	ENST00000522917.1	+	31	4174	c.3968G>T	c.(3967-3969)gGc>gTc	p.G1323V	FER1L6_ENST00000399018.1_Splice_Site_p.G1323V|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1323						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGGTTCCAGGGCTCCTTCTGC	0.532																																					p.G1323V		Atlas-SNP	.											.	FER1L6	268	.	0			c.G3968T						.						78.0	80.0	79.0					8																	125083748		1911	4121	6032	SO:0001630	splice_region_variant	654463	exon31			TCCAGGGCTCCTT	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3967-1G>T	chr8.hg19:g.125083748G>T		46.0	0.0		126.0	9.0	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	hg19	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476025	0.84640	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.89343	-2.5;-2.5	5.96	5.96	0.96718	.	0.059893	0.64402	U	0.000003	D	0.94974	0.8374	M	0.90977	3.165	0.80722	D	1	D	0.69078	0.997	P	0.55965	0.788	D	0.95140	0.8263	10	0.66056	D	0.02	-20.9261	20.422	0.99049	0.0:0.0:1.0:0.0	.	1323	Q2WGJ9	FR1L6_HUMAN	V	1323	ENSP00000428280:G1323V;ENSP00000381982:G1323V	ENSP00000381982:G1323V	G	+	2	0	FER1L6	125152929	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.233000	0.78125	2.832000	0.97577	0.655000	0.94253	GGC	.	.		0.532	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	Missense_Mutation
SCRIB	23513	hgsc.bcm.edu	37	8	144895116	144895116	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr8:144895116G>A	ENST00000320476.3	-	8	664	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	SCRIB_ENST00000356994.2_Missense_Mutation_p.R220W|SCRIB_ENST00000377533.3_Missense_Mutation_p.R139W|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	220	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACCAGGCGCCGCAGGTTCCCG	0.682																																					p.R220W	Pancreas(51;966 1133 10533 14576 29674)	Atlas-SNP	.											.	SCRIB	192	.	0			c.C658T						.						28.0	30.0	29.0					8																	144895116		2195	4298	6493	SO:0001583	missense	23513	exon8			GGCGCCGCAGGTT	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.658C>T	chr8.hg19:g.144895116G>A	ENSP00000322938:p.Arg220Trp	128.0	0.0		197.0	8.0	NM_015356	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	hg19	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411500	0.83340	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.10477	2.87;2.87;2.87	4.52	3.63	0.41609	.	.	.	.	.	T	0.27205	0.0667	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.01143	-1.1438	9	0.72032	D	0.01	.	13.1256	0.59354	0.0:0.0:0.8383:0.1617	.	220;220	Q14160;Q14160-3	SCRIB_HUMAN;.	W	220;220;139	ENSP00000349486:R220W;ENSP00000322938:R220W;ENSP00000366756:R139W	ENSP00000322938:R220W	R	-	1	2	SCRIB	144967104	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	5.438000	0.66550	0.966000	0.38159	0.563000	0.77884	CGG	.	.		0.682	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356	
SPINK4	27290	hgsc.bcm.edu	37	9	33246666	33246666	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr9:33246666T>C	ENST00000379721.3	+	3	200	c.155T>C	c.(154-156)cTg>cCg	p.L52P	SPINK4_ENST00000379725.1_Missense_Mutation_p.L75P|SPINK4_ENST00000379723.1_Missense_Mutation_p.L75P	NM_014471.1	NP_055286.1	O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	52	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				response to drug (GO:0042493)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			ATGTCCAACCTGGTCTGCGGC	0.572																																					p.L52P		Atlas-SNP	.											.	SPINK4	7	.	0			c.T155C						.						177.0	151.0	160.0					9																	33246666		2203	4300	6503	SO:0001583	missense	27290	exon3			CCAACCTGGTCTG	AF048700	CCDS6536.1	9p13.3	2011-08-31	2005-08-17		ENSG00000122711	ENSG00000122711		"""Serine peptidase inhibitors, Kazal type"""	16646	protein-coding gene	gene with protein product		613929	"""serine protease inhibitor, Kazal type 4"""			1400298, 17333166	Standard	NM_014471		Approved	PEC-60, MGC133107	uc003zsh.3	O60575	OTTHUMG00000019762	ENST00000379721.3:c.155T>C	chr9.hg19:g.33246666T>C	ENSP00000369045:p.Leu52Pro	53.0	0.0		45.0	12.0	NM_014471	Q2YDT7	Missense_Mutation	SNP	ENST00000379721.3	hg19	CCDS6536.1	.	.	.	.	.	.	.	.	.	.	T	4.026	0.002320	0.07819	.	.	ENSG00000122711	ENST00000379725;ENST00000379723;ENST00000379721	T;T;T	0.59638	0.25;0.25;0.25	4.7	-6.05	0.02172	Proteinase inhibitor I1, Kazal (3);	0.343628	0.25532	N	0.030021	T	0.23289	0.0563	.	.	.	0.09310	N	0.999993	B	0.06786	0.001	B	0.06405	0.002	T	0.37934	-0.9684	9	0.02654	T	1	-0.6536	8.9833	0.35979	0.1295:0.6869:0.0:0.1836	.	52	O60575	ISK4_HUMAN	P	75;75;52	ENSP00000369048:L75P;ENSP00000369046:L75P;ENSP00000369045:L52P	ENSP00000369045:L52P	L	+	2	0	SPINK4	33236666	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-1.118000	0.03280	-1.232000	0.02554	0.379000	0.24179	CTG	.	.		0.572	SPINK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052035.1	NM_014471	
NPR2	4882	hgsc.bcm.edu	37	9	35792605	35792605	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr9:35792605T>C	ENST00000342694.2	+	1	455	c.200T>C	c.(199-201)gTc>gCc	p.V67A		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	67					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGCGGTTTGTCAGCTCCGAA	0.657																																					p.V67A		Atlas-SNP	.											.	NPR2	162	.	0			c.T200C						.						71.0	66.0	68.0					9																	35792605		2203	4300	6503	SO:0001583	missense	4882	exon1			GGTTTGTCAGCTC	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.200T>C	chr9.hg19:g.35792605T>C	ENSP00000341083:p.Val67Ala	75.0	0.0		55.0	6.0	NM_003995	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	hg19	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	T	9.938	1.216743	0.22373	.	.	ENSG00000159899	ENST00000342694	D	0.82526	-1.62	4.09	4.09	0.47781	Extracellular ligand-binding receptor (1);	0.000000	0.39834	N	0.001252	T	0.63896	0.2550	N	0.08118	0	0.39311	D	0.965079	B;B	0.16802	0.001;0.019	B;B	0.18871	0.006;0.023	T	0.59225	-0.7494	10	0.11182	T	0.66	.	10.8585	0.46812	0.0:0.0:0.0:1.0	.	67;67	P20594-2;P20594	.;ANPRB_HUMAN	A	67	ENSP00000341083:V67A	ENSP00000341083:V67A	V	+	2	0	NPR2	35782605	0.022000	0.18835	1.000000	0.80357	0.995000	0.86356	0.428000	0.21395	1.835000	0.53391	0.460000	0.39030	GTC	.	.		0.657	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		
TRPM3	80036	hgsc.bcm.edu	37	9	73461375	73461375	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr9:73461375G>T	ENST00000377111.2	-	4	838	c.595C>A	c.(595-597)Ctc>Atc	p.L199I	TRPM3_ENST00000358082.3_Missense_Mutation_p.L46I|TRPM3_ENST00000377110.3_Missense_Mutation_p.L199I|TRPM3_ENST00000396292.4_Missense_Mutation_p.L46I|TRPM3_ENST00000361823.5_Missense_Mutation_p.L46I|TRPM3_ENST00000377097.3_Missense_Mutation_p.L46I|TRPM3_ENST00000423814.3_Missense_Mutation_p.L201I|TRPM3_ENST00000377106.1_Missense_Mutation_p.L46I|TRPM3_ENST00000396280.5_Missense_Mutation_p.L46I|TRPM3_ENST00000360823.2_Missense_Mutation_p.L46I|TRPM3_ENST00000396285.1_Missense_Mutation_p.L46I|TRPM3_ENST00000377101.1_Missense_Mutation_p.L46I|TRPM3_ENST00000357533.2_Missense_Mutation_p.L201I|TRPM3_ENST00000408909.2_Missense_Mutation_p.L46I|TRPM3_ENST00000396283.1_Missense_Mutation_p.L46I|TRPM3_ENST00000377105.1_Missense_Mutation_p.L46I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	199					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACTTGCTTGAGTTTTGGCTGG	0.493																																					p.L199I		Atlas-SNP	.											.	TRPM3	700	.	0			c.C595A						.						178.0	178.0	178.0					9																	73461375		2203	4300	6503	SO:0001583	missense	80036	exon4			GCTTGAGTTTTGG	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.595C>A	chr9.hg19:g.73461375G>T	ENSP00000366315:p.Leu199Ile	118.0	0.0		90.0	4.0	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	hg19		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.94|16.94|16.94	3.261854|3.261854|3.261854	0.59431|0.59431|0.59431	.|.|.	.|.|.	ENSG00000083067|ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451|ENST00000377097|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.|.	0.10382|.|.	2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88|.|.	5.86|5.86|5.86	5.86|5.86|5.86	0.93980|0.93980|0.93980	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.72803|0.72803|0.72803	0.3506|0.3506|0.3506	M|M|M	0.71920|0.71920|0.71920	2.185|2.185|2.185	0.52501|0.52501|0.52501	D|D|D	0.999951|0.999951|0.999951	P;D;P;B;P;D;B;P;D;P;D|.|.	0.76494|.|.	0.568;0.999;0.63;0.099;0.534;0.996;0.102;0.584;0.996;0.634;0.986|.|.	B;D;B;B;B;D;B;B;D;B;D|.|.	0.72625|.|.	0.234;0.963;0.347;0.119;0.382;0.978;0.025;0.263;0.978;0.202;0.966|.|.	T|T|T	0.71807|0.71807|0.71807	-0.4481|-0.4481|-0.4481	10|5|5	0.34782|.|.	T|.|.	0.22|.|.	-8.7036|-8.7036|-8.7036	13.4018|13.4018|13.4018	0.60887|0.60887|0.60887	0.0715:0.0:0.9285:0.0|0.0715:0.0:0.9285:0.0|0.0715:0.0:0.9285:0.0	.|.|.	199;201;46;199;199;199;201;46;46;199;46|.|.	Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.|.	TRPM3_HUMAN;.;.;.;.;.;.;.;.;.;.|.|.	I|K|N	199;199;46;46;46;201;46;46;46;46;201;46;46;46;46|88|45	ENSP00000366315:L199I;ENSP00000366314:L199I;ENSP00000366310:L46I;ENSP00000354066:L46I;ENSP00000366309:L46I;ENSP00000350140:L201I;ENSP00000386127:L46I;ENSP00000379581:L46I;ENSP00000379587:L46I;ENSP00000350791:L46I;ENSP00000389542:L201I;ENSP00000366305:L46I;ENSP00000379579:L46I;ENSP00000355395:L46I|.|.	ENSP00000350140:L201I|.|.	L|N|T	-|-|-	1|3|2	0|2|0	TRPM3|TRPM3|TRPM3	72651195|72651195|72651195	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.989000|0.989000|0.989000	0.77384|0.77384|0.77384	7.952000|7.952000|7.952000	0.87827|0.87827|0.87827	2.781000|2.781000|2.781000	0.95711|0.95711|0.95711	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	CTC|AAC|ACT	.	.		0.493	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
RBM18	92400	hgsc.bcm.edu	37	9	125023740	125023740	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr9:125023740T>C	ENST00000417201.3	-	2	172	c.32A>G	c.(31-33)gAg>gGg	p.E11G	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	11							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						GGATGCATTCTCCAGGGGAAG	0.443																																					p.E11G		Atlas-SNP	.											.	RBM18	15	.	0			c.A32G						.						153.0	143.0	147.0					9																	125023740		2203	4300	6503	SO:0001583	missense	92400	exon2			GCATTCTCCAGGG	AK057676	CCDS6839.1	9q34.11	2013-02-12			ENSG00000119446	ENSG00000119446		"""RNA binding motif (RRM) containing"""	28413	protein-coding gene	gene with protein product						12477932	Standard	NM_033117		Approved	MGC2734	uc004bma.2	Q96H35	OTTHUMG00000020602	ENST00000417201.3:c.32A>G	chr9.hg19:g.125023740T>C	ENSP00000409315:p.Glu11Gly	118.0	0.0		78.0	53.0	NM_033117	B3KQ89	Missense_Mutation	SNP	ENST00000417201.3	hg19	CCDS6839.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.358302	0.61403	.	.	ENSG00000119446	ENST00000417201	T	0.13307	2.6	5.69	4.55	0.56014	.	0.145674	0.64402	D	0.000013	T	0.13157	0.0319	L	0.36672	1.1	0.51767	D	0.999938	P	0.46987	0.888	B	0.43889	0.435	T	0.03545	-1.1026	10	0.39692	T	0.17	-21.5232	10.7134	0.45997	0.0:0.0753:0.0:0.9247	.	11	Q96H35	RBM18_HUMAN	G	11	ENSP00000409315:E11G	ENSP00000409315:E11G	E	-	2	0	RBM18	124063561	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.523000	0.73787	1.111000	0.41721	0.533000	0.62120	GAG	.	.		0.443	RBM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053928.2	NM_033117	
FBXO18	84893	hgsc.bcm.edu	37	10	5948067	5948067	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr10:5948067G>T	ENST00000362091.4	+	3	340	c.225G>T	c.(223-225)atG>atT	p.M75I	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000379999.5_Missense_Mutation_p.M126I	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	75					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCAATGACATGGCCAAAAGCA	0.527																																					p.M126I		Atlas-SNP	.											.	FBXO18	108	.	0			c.G378T						.						79.0	71.0	74.0					10																	5948067		2203	4300	6503	SO:0001583	missense	84893	exon4			TGACATGGCCAAA	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.225G>T	chr10.hg19:g.5948067G>T	ENSP00000355415:p.Met75Ile	173.0	0.0		205.0	107.0	NM_032807	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	hg19	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016233	0.54468	.	.	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.76	5.76	0.90799	.	0.196924	0.50627	D	0.000106	T	0.72763	0.3501	L	0.56769	1.78	0.80722	D	1	P;P;P	0.50528	0.631;0.498;0.936	B;B;P	0.61201	0.229;0.115;0.885	T	0.67522	-0.5649	9	0.25751	T	0.34	-39.3798	15.4761	0.75481	0.0:0.0:1.0:0.0	.	126;75;1	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	I	75;126	.	ENSP00000355415:M75I	M	+	3	0	FBXO18	5988073	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.501000	0.53325	2.713000	0.92767	0.655000	0.94253	ATG	.	.		0.527	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807	
MARCH8	220972	hgsc.bcm.edu	37	10	45954609	45954609	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr10:45954609A>G	ENST00000319836.3	-	6	1279	c.530T>C	c.(529-531)aTt>aCt	p.I177T	MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Missense_Mutation_p.I177T|MARCH8_ENST00000453424.2_Missense_Mutation_p.I459T|MARCH8_ENST00000395771.3_Missense_Mutation_p.I177T	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	177					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						AGTACGGTCAATGAGCACATA	0.552																																					p.I177T	NSCLC(102;658 1594 2173 16344 34808)	Atlas-SNP	.											.	MARCH8	29	.	0			c.T530C						.						182.0	140.0	154.0					10																	45954609		2203	4300	6503	SO:0001583	missense	220972	exon6			CGGTCAATGAGCA	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.530T>C	chr10.hg19:g.45954609A>G	ENSP00000317087:p.Ile177Thr	70.0	0.0		101.0	28.0	NM_001002266	B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	hg19	CCDS7213.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327070	0.81690	.	.	ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769	T;T;T	0.13657	2.57;2.57;2.57	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	M	0.71206	2.165	0.80722	D	1	D;D	0.67145	0.996;0.981	D;D	0.65684	0.937;0.914	T	0.06303	-1.0834	10	0.62326	D	0.03	-22.4289	13.9558	0.64147	1.0:0.0:0.0:0.0	.	177;341	Q5T0T0;Q5JQ16	MARH8_HUMAN;.	T	177	ENSP00000379118:I177T;ENSP00000317087:I177T;ENSP00000379116:I177T	ENSP00000317087:I177T	I	-	2	0	MARCH8	45274615	1.000000	0.71417	0.941000	0.38009	0.802000	0.45316	9.339000	0.96797	2.184000	0.69523	0.533000	0.62120	ATT	.	.		0.552	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021	
ZSWIM8	23053	hgsc.bcm.edu	37	10	75552318	75552318	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr10:75552318A>G	ENST00000605216.1	+	10	2238	c.2021A>G	c.(2020-2022)tAc>tGc	p.Y674C	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.Y674C|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.Y674C|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.Y674C|ZSWIM8_ENST00000603114.1_Intron	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	674							zinc ion binding (GO:0008270)										GGTGGTGTGTACTTCTCGGAA	0.607																																					p.Y674C		Atlas-SNP	.											.	.	.	.	0			c.A2021G						.						50.0	54.0	53.0					10																	75552318		1942	4127	6069	SO:0001583	missense	23053	exon10			GTGTGTACTTCTC	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2021A>G	chr10.hg19:g.75552318A>G	ENSP00000474748:p.Tyr674Cys	109.0	0.0		110.0	21.0	NM_001242488	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.50|12.50	1.957183|1.957183	0.34565|0.34565	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000431225|ENST00000398706	.|T	.|0.43688	.|0.94	5.4|5.4	4.25|4.25	0.50352|0.50352	.|.	.|0.715004	.|0.11731	.|U	.|0.534986	T|T	0.33177|0.33177	0.0854|0.0854	L|L	0.29908|0.29908	0.895|0.895	0.34874|0.34874	D|D	0.7439|0.7439	.|B;B;B;B	.|0.09022	.|0.002;0.0;0.002;0.002	.|B;B;B;B	.|0.06405	.|0.002;0.0;0.002;0.002	T|T	0.30119|0.30119	-0.9989|-0.9989	5|10	.|0.42905	.|T	.|0.14	-5.9973|-5.9973	11.7821|11.7821	0.52021|0.52021	0.8683:0.0:0.0:0.1317|0.8683:0.0:0.0:0.1317	.|.	.|674;674;674;674	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.;.	A|C	171|674	.|ENSP00000381693:Y674C	.|ENSP00000381693:Y674C	T|Y	+|+	1|2	0|0	KIAA0913|KIAA0913	75222324|75222324	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.764000|4.764000	0.62264|0.62264	1.043000|1.043000	0.40175|0.40175	0.533000|0.533000	0.62120|0.62120	ACT|TAC	.	.		0.607	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487	
CYP2C18	1562	hgsc.bcm.edu	37	10	96480254	96480254	+	Silent	SNP	A	A	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr10:96480254A>G	ENST00000285979.6	+	6	1120	c.921A>G	c.(919-921)agA>agG	p.R307R	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Silent_p.R248R	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	307					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	CCACTCTGAGATATGGACTCC	0.453																																					p.R307R		Atlas-SNP	.											.	CYP2C18	79	.	0			c.A921G						.						145.0	135.0	138.0					10																	96480254		2203	4300	6503	SO:0001819	synonymous_variant	1562	exon6			TCTGAGATATGGA	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.921A>G	chr10.hg19:g.96480254A>G		49.0	0.0		84.0	47.0	NM_000772	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Silent	SNP	ENST00000285979.6	hg19	CCDS7435.1																																																																																			.	.		0.453	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772	
FAM204A	63877	hgsc.bcm.edu	37	10	120070724	120070724	+	Silent	SNP	T	T	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr10:120070724T>C	ENST00000369183.4	-	8	904	c.645A>G	c.(643-645)gcA>gcG	p.A215A	FAM204A_ENST00000469758.1_5'UTR|FAM204A_ENST00000369172.4_Silent_p.A215A	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	215										kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						CTCACCCCCATGCAAGTTTCT	0.363																																					p.A215A		Atlas-SNP	.											.	FAM204A	20	.	0			c.A645G						.						77.0	79.0	78.0					10																	120070724		2203	4300	6503	SO:0001819	synonymous_variant	63877	exon7			CCCCCATGCAAGT	AK023250	CCDS7605.1	10q26.12	2011-06-01	2011-06-01	2011-06-01	ENSG00000165669	ENSG00000165669			25794	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 84"""	C10orf84		12477932	Standard	NM_022063		Approved	FLJ13188, bA319I23.1	uc010qss.1	Q9H8W3	OTTHUMG00000019131	ENST00000369183.4:c.645A>G	chr10.hg19:g.120070724T>C		92.0	0.0		152.0	71.0	NM_001134672	D3DRC6|Q5T373|Q9H5V5	Silent	SNP	ENST00000369183.4	hg19	CCDS7605.1																																																																																			.	.		0.363	FAM204A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050596.2	NM_022063	
ADAM12	8038	hgsc.bcm.edu	37	10	127824210	127824210	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr10:127824210C>T	ENST00000368679.4	-	5	677	c.368G>A	c.(367-369)gGa>gAa	p.G123E	ADAM12_ENST00000368676.4_Missense_Mutation_p.G123E	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	123					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCGTACATGTCCATGGTAGTA	0.453																																					p.G123E		Atlas-SNP	.											.	ADAM12	388	.	0			c.G368A						.						148.0	113.0	125.0					10																	127824210		2203	4300	6503	SO:0001583	missense	8038	exon5			ACATGTCCATGGT	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.368G>A	chr10.hg19:g.127824210C>T	ENSP00000357668:p.Gly123Glu	103.0	0.0		122.0	74.0	NM_021641	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	hg19	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.931097	0.73327	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.51817	0.69;0.69;0.69	4.17	4.17	0.49024	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.76212	0.3956	H	0.95402	3.665	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.72075	0.976;0.959;0.959;0.959;0.976	D	0.84007	0.0346	10	0.87932	D	0	.	13.7996	0.63192	0.0:1.0:0.0:0.0	.	120;120;123;120;123	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	E	123;123;120	ENSP00000357668:G123E;ENSP00000357665:G123E;ENSP00000391268:G120E	ENSP00000357665:G123E	G	-	2	0	ADAM12	127814200	0.964000	0.33143	0.525000	0.27900	0.274000	0.26718	4.666000	0.61554	2.158000	0.67659	0.491000	0.48974	GGA	.	.		0.453	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1		
ST5	6764	hgsc.bcm.edu	37	11	8752073	8752073	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr11:8752073C>T	ENST00000534127.1	-	6	1149	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R255Q|ST5_ENST00000357665.1_Missense_Mutation_p.R255Q	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	255					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTTCTCCAGCCGGTAGAAAGA	0.622																																					p.R255Q		Atlas-SNP	.											.	ST5	85	.	0			c.G764A						.						37.0	45.0	43.0					11																	8752073		2196	4292	6488	SO:0001583	missense	6764	exon6			TCCAGCCGGTAGA	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.764G>A	chr11.hg19:g.8752073C>T	ENSP00000433528:p.Arg255Gln	73.0	0.0		76.0	28.0	NM_005418	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	hg19	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186385	0.94885	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	T;T;T	0.21932	1.98;1.98;1.98	6.17	6.17	0.99709	.	0.405962	0.25555	N	0.029868	T	0.46698	0.1406	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.06807	-1.0806	10	0.48119	T	0.1	-14.0429	20.8794	0.99867	0.0:1.0:0.0:0.0	.	255	P78524	ST5_HUMAN	Q	255	ENSP00000433528:R255Q;ENSP00000319678:R255Q;ENSP00000350294:R255Q	ENSP00000319678:R255Q	R	-	2	0	ST5	8708649	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.627000	0.67784	2.941000	0.99782	0.655000	0.94253	CGG	.	.		0.622	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418	
INSC	387755	hgsc.bcm.edu	37	11	15134030	15134030	+	Silent	SNP	T	T	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr11:15134030T>C	ENST00000379554.3	+	1	61	c.15T>C	c.(13-15)ccT>ccC	p.P5P	INSC_ENST00000379556.3_5'Flank|INSC_ENST00000424273.1_5'Flank	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	5					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GACGGCCCCCTGGCAATGGAG	0.622																																					p.P5P		Atlas-SNP	.											INSC,colon,carcinoma,0,1	INSC	104	.	0			c.T15C						.						49.0	60.0	57.0					11																	15134030		1951	4125	6076	SO:0001819	synonymous_variant	387755	exon1			GCCCCCTGGCAAT	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.15T>C	chr11.hg19:g.15134030T>C		89.0	0.0		96.0	7.0	NM_001031853	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Silent	SNP	ENST00000379554.3	hg19	CCDS41621.1																																																																																			.	.		0.622	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853	
SPTY2D1	144108	hgsc.bcm.edu	37	11	18636742	18636742	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr11:18636742T>C	ENST00000336349.5	-	3	1314	c.1079A>G	c.(1078-1080)cAc>cGc	p.H360R	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	360	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						AGCCTTATTGTGTGGGGTGAC	0.562																																					p.H360R		Atlas-SNP	.											.	SPTY2D1	72	.	0			c.A1079G						.						109.0	118.0	115.0					11																	18636742		2199	4293	6492	SO:0001583	missense	144108	exon3			TTATTGTGTGGGG	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1079A>G	chr11.hg19:g.18636742T>C	ENSP00000337991:p.His360Arg	123.0	0.0		114.0	31.0	NM_194285	Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	hg19	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	T	4.825	0.153335	0.09185	.	.	ENSG00000179119	ENST00000336349	T	0.20738	2.05	5.84	1.96	0.26148	.	0.852389	0.10952	N	0.615985	T	0.16769	0.0403	L	0.36672	1.1	0.09310	N	1	B	0.24823	0.112	B	0.16722	0.016	T	0.28396	-1.0045	10	0.15066	T	0.55	1.2857	13.6712	0.62427	0.0:0.0:0.4321:0.5679	.	360	Q68D10	SPT2_HUMAN	R	360	ENSP00000337991:H360R	ENSP00000337991:H360R	H	-	2	0	SPTY2D1	18593318	0.210000	0.23517	0.007000	0.13788	0.155000	0.21991	0.619000	0.24388	0.050000	0.15949	0.460000	0.39030	CAC	.	.		0.562	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285	
ANO3	63982	hgsc.bcm.edu	37	11	26563568	26563568	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr11:26563568G>T	ENST00000256737.3	+	11	1959	c.1107G>T	c.(1105-1107)tgG>tgT	p.W369C	ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000537978.1_Missense_Mutation_p.W353C|ANO3_ENST00000531568.1_Missense_Mutation_p.W223C|ANO3_ENST00000525139.1_Missense_Mutation_p.W353C	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	369					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATGAGCGCTGGGCACGCTGGG	0.408																																					p.W369C		Atlas-SNP	.											.	ANO3	145	.	0			c.G1107T						.						73.0	68.0	70.0					11																	26563568		2203	4299	6502	SO:0001583	missense	63982	exon11			GCGCTGGGCACGC	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1107G>T	chr11.hg19:g.26563568G>T	ENSP00000256737:p.Trp369Cys	76.0	0.0		102.0	28.0	NM_031418	B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	hg19	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476853	0.84640	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.87458	0.6182	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	D	0.90660	0.4589	10	0.87932	D	0	.	19.3706	0.94481	0.0:0.0:1.0:0.0	.	271;369	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	C	353;353;369;271;223	ENSP00000440737:W353C;ENSP00000432576:W353C;ENSP00000256737:W369C;ENSP00000432394:W223C	ENSP00000256737:W369C	W	+	3	0	ANO3	26520144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.785000	0.99042	2.584000	0.87258	0.655000	0.94253	TGG	.	.		0.408	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418	
OR8U1	219417	hgsc.bcm.edu	37	11	56143353	56143353	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr11:56143353T>C	ENST00000302270.1	+	1	254	c.254T>C	c.(253-255)tTc>tCc	p.F85S		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CTTGGGAATTTCTTGTACAAA	0.393																																					p.F85S		Atlas-SNP	.											.	OR8U1	59	.	0			c.T254C						.						249.0	226.0	233.0					11																	56143353		1967	4163	6130	SO:0001583	missense	219417	exon1			GGAATTTCTTGTA	AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.254T>C	chr11.hg19:g.56143353T>C	ENSP00000304188:p.Phe85Ser	44.0	0.0		60.0	19.0	NM_001005204		Missense_Mutation	SNP	ENST00000302270.1	hg19	CCDS41647.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.868019	0.51588	.	.	ENSG00000172199	ENST00000302270	T	0.00949	5.51	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000122	T	0.03263	0.0095	L	0.54323	1.7	0.20926	N	0.999828	D	0.59357	0.985	P	0.57009	0.811	T	0.26052	-1.0114	10	0.72032	D	0.01	.	15.3036	0.73976	0.0:0.0:0.0:1.0	.	85	Q8NH10	OR8U1_HUMAN	S	85	ENSP00000304188:F85S	ENSP00000304188:F85S	F	+	2	0	OR8U1	55899929	0.750000	0.28316	0.997000	0.53966	0.009000	0.06853	4.877000	0.63086	2.214000	0.71695	0.523000	0.50628	TTC	.	.		0.393	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204	
TNKS1BP1	85456	hgsc.bcm.edu	37	11	57070061	57070061	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr11:57070061C>T	ENST00000532437.1	-	6	4866	c.4555G>A	c.(4555-4557)Gaa>Aaa	p.E1519K	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E1519K			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1519	Acidic.|Tankyrase-binding.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCCACGTCTTCTGTCTGGCTG	0.672																																					p.E1519K		Atlas-SNP	.											.	TNKS1BP1	148	.	0			c.G4555A						.						29.0	29.0	29.0					11																	57070061		2201	4296	6497	SO:0001583	missense	85456	exon7			CGTCTTCTGTCTG	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4555G>A	chr11.hg19:g.57070061C>T	ENSP00000437271:p.Glu1519Lys	84.0	0.0		81.0	27.0	NM_033396	A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	hg19	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135251	0.56828	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.37058	1.22;1.22	4.68	4.68	0.58851	.	0.576304	0.15639	N	0.252007	T	0.41096	0.1144	L	0.51422	1.61	0.23510	N	0.997522	P;P	0.49961	0.93;0.799	P;B	0.47299	0.543;0.289	T	0.33929	-0.9849	10	0.72032	D	0.01	-5.9322	13.4519	0.61176	0.0:1.0:0.0:0.0	.	1519;100	Q9C0C2;Q86TK2	TB182_HUMAN;.	K	1519	ENSP00000350990:E1519K;ENSP00000437271:E1519K	ENSP00000350990:E1519K	E	-	1	0	TNKS1BP1	56826637	0.006000	0.16342	0.129000	0.21949	0.061000	0.15899	0.868000	0.27982	2.315000	0.78130	0.561000	0.74099	GAA	.	.		0.672	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396	
MYRF	745	hgsc.bcm.edu	37	11	61537823	61537823	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr11:61537823C>T	ENST00000278836.5	+	5	662	c.566C>T	c.(565-567)cCg>cTg	p.P189L	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.P180L	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	189	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CCAGGCCCCCCGCCACCCCCA	0.697																																					p.P189L		Atlas-SNP	.											.	.	.	.	0			c.C566T						.						3.0	3.0	3.0					11																	61537823		1914	3793	5707	SO:0001583	missense	745	exon5			GCCCCCCGCCACC		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.566C>T	chr11.hg19:g.61537823C>T	ENSP00000278836:p.Pro189Leu	160.0	0.0		146.0	51.0	NM_001127392	O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	hg19	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768455	0.69878	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.32272	1.46;1.48	4.04	4.04	0.47022	.	0.106814	0.41938	D	0.000800	T	0.15132	0.0365	N	0.12182	0.205	0.80722	D	1	B;B	0.31519	0.327;0.22	B;B	0.24541	0.054;0.042	T	0.09314	-1.0680	10	0.29301	T	0.29	-20.9772	10.7765	0.46353	0.0:0.9095:0.0:0.0905	.	180;189	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	L	189;180	ENSP00000278836:P189L;ENSP00000265460:P180L	ENSP00000265460:P180L	P	+	2	0	C11orf9	61294399	0.987000	0.35691	0.478000	0.27316	0.632000	0.37999	5.292000	0.65673	2.184000	0.69523	0.491000	0.48974	CCG	.	.		0.697	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279	
DLG2	1740	hgsc.bcm.edu	37	11	84996278	84996278	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr11:84996278G>A	ENST00000376104.2	-	4	483	c.172C>T	c.(172-174)Caa>Taa	p.Q58*	DLG2_ENST00000543673.1_Nonsense_Mutation_p.Q58*	NM_001142699.1	NP_001136171.1	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GAAGATTTTTGAAGTCTGTCA	0.368																																					p.Q58X		Atlas-SNP	.											.	DLG2	448	.	0			c.C172T						.						200.0	180.0	186.0					11																	84996278		1568	3581	5149	SO:0001587	stop_gained	1740	exon4			ATTTTTGAAGTCT	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000376104.2:c.172C>T	chr11.hg19:g.84996278G>A	ENSP00000365272:p.Gln58*	69.0	0.0		69.0	24.0	NM_001142699	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Nonsense_Mutation	SNP	ENST00000376104.2	hg19	CCDS44690.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019643	0.54576	.	.	ENSG00000150672	ENST00000376104;ENST00000543673;ENST00000546021	.	.	.	5.89	4.98	0.66077	.	0.229512	0.26428	N	0.024422	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4393	0.67303	0.071:0.0:0.929:0.0	.	.	.	.	X	58	.	.	Q	-	1	0	DLG2	84673926	1.000000	0.71417	0.134000	0.22075	0.187000	0.23431	6.323000	0.72891	1.484000	0.48361	0.655000	0.94253	CAA	.	.		0.368	DLG2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259245.3	NM_001364	
FAT3	120114	hgsc.bcm.edu	37	11	92495069	92495069	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr11:92495069G>T	ENST00000298047.6	+	4	3734	c.3717G>T	c.(3715-3717)tgG>tgT	p.W1239C	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Missense_Mutation_p.W1239C|FAT3_ENST00000525166.1_Missense_Mutation_p.W1089C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1239	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAACCATTTGGGTGGTGGTTC	0.448										TCGA Ovarian(4;0.039)																											p.W1239C		Atlas-SNP	.											.	FAT3	1822	.	0			c.G3717T						.						194.0	185.0	188.0					11																	92495069		1904	4121	6025	SO:0001583	missense	120114	exon4			CATTTGGGTGGTG	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3717G>T	chr11.hg19:g.92495069G>T	ENSP00000298047:p.Trp1239Cys	98.0	0.0		126.0	45.0	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	hg19		.	.	.	.	.	.	.	.	.	.	G	18.45	3.626742	0.66901	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.51071	0.72;0.72;0.72	5.44	5.44	0.79542	.	.	.	.	.	T	0.52041	0.1710	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63060	-0.6721	9	0.59425	D	0.04	.	19.2605	0.93966	0.0:0.0:1.0:0.0	.	1239	Q8TDW7-3	.	C	1239;1239;1089	ENSP00000298047:W1239C;ENSP00000387040:W1239C;ENSP00000432586:W1089C	ENSP00000298047:W1239C	W	+	3	0	FAT3	92134717	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.797000	0.85911	2.531000	0.85337	0.563000	0.77884	TGG	.	.		0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
PHLDB1	23187	hgsc.bcm.edu	37	11	118498741	118498741	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr11:118498741G>A	ENST00000361417.2	+	7	1613	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	PHLDB1_ENST00000356063.5_Missense_Mutation_p.R401H	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	401										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTCCAGGACCGCCCTCCCAGC	0.607																																					p.R401H		Atlas-SNP	.											.	PHLDB1	103	.	0			c.G1202A						.						88.0	87.0	87.0					11																	118498741		2200	4295	6495	SO:0001583	missense	23187	exon6			AGGACCGCCCTCC		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1202G>A	chr11.hg19:g.118498741G>A	ENSP00000354498:p.Arg401His	68.0	0.0		75.0	21.0	NM_001144758	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	hg19	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070860	0.76301	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000356063	T;T	0.39056	1.11;1.1	5.32	5.32	0.75619	.	0.232964	0.41396	D	0.000882	T	0.52008	0.1708	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.989	P;P;P	0.62014	0.897;0.881;0.474	T	0.44159	-0.9346	10	0.41790	T	0.15	-22.2486	11.7262	0.51710	0.0805:0.0:0.9195:0.0	.	401;401;401	Q86UU1-3;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	H	401;160;401	ENSP00000354498:R401H;ENSP00000348359:R401H	ENSP00000348359:R401H	R	+	2	0	PHLDB1	118003951	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.227000	0.89787	2.769000	0.95229	0.563000	0.77884	CGC	.	.		0.607	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157	
KIAA1551	55196	hgsc.bcm.edu	37	12	32137127	32137127	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr12:32137127A>G	ENST00000312561.4	+	4	3652	c.3238A>G	c.(3238-3240)Act>Gct	p.T1080A	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1080																	GGGCCAGCAAACTACATACCA	0.418																																					p.T1080A		Atlas-SNP	.											.	.	.	.	0			c.A3238G						.						101.0	97.0	98.0					12																	32137127		2203	4299	6502	SO:0001583	missense	55196	exon4			CAGCAAACTACAT	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3238A>G	chr12.hg19:g.32137127A>G	ENSP00000310338:p.Thr1080Ala	119.0	0.0		145.0	44.0	NM_018169	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	hg19	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	A	2.802	-0.248988	0.05867	.	.	ENSG00000174718	ENST00000312561	T	0.11495	2.77	5.37	-4.63	0.03359	.	2.607030	0.01366	N	0.012407	T	0.07863	0.0197	L	0.29908	0.895	0.09310	N	1	B	0.21225	0.053	B	0.15484	0.013	T	0.27806	-1.0063	9	.	.	.	.	6.8637	0.24082	0.4508:0.0:0.4275:0.1217	.	1080	Q9HCM1	CL035_HUMAN	A	1080	ENSP00000310338:T1080A	.	T	+	1	0	C12orf35	32028394	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.171000	0.16685	-1.259000	0.02468	0.460000	0.39030	ACT	.	.		0.418	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
TFCP2	7024	hgsc.bcm.edu	37	12	51489814	51489814	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr12:51489814T>C	ENST00000257915.5	-	14	1887	c.1429A>G	c.(1429-1431)Aac>Gac	p.N477D	TFCP2_ENST00000307660.4_Missense_Mutation_p.N426D|TFCP2_ENST00000548115.1_Missense_Mutation_p.N426D|TFCP2_ENST00000549867.1_Missense_Mutation_p.N399D	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	477					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TCCTGAAAGTTCTGTATCATC	0.358																																					p.N477D		Atlas-SNP	.											.	TFCP2	49	.	0			c.A1429G						.						124.0	118.0	120.0					12																	51489814		2203	4297	6500	SO:0001583	missense	7024	exon14			GAAAGTTCTGTAT	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.1429A>G	chr12.hg19:g.51489814T>C	ENSP00000257915:p.Asn477Asp	74.0	0.0		74.0	28.0	NM_001173452	A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	hg19	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.953162	0.92660	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115;ENST00000548108	T;T;T;T;T	0.51325	2.11;0.72;2.16;0.71;1.94	5.75	5.75	0.90469	.	0.154798	0.56097	D	0.000033	T	0.68174	0.2972	M	0.73598	2.24	0.54753	D	0.99998	D;P;D;D	0.71674	0.994;0.701;0.972;0.998	D;B;P;D	0.71184	0.955;0.201;0.901;0.972	T	0.71251	-0.4648	10	0.62326	D	0.03	-21.1478	15.3417	0.74303	0.0:0.0:0.0:1.0	.	426;399;477;477	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	D	477;426;399;426;379	ENSP00000257915:N477D;ENSP00000304411:N426D;ENSP00000449742:N399D;ENSP00000447991:N426D;ENSP00000449280:N379D	ENSP00000257915:N477D	N	-	1	0	TFCP2	49776081	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.281000	0.78621	2.330000	0.79161	0.477000	0.44152	AAC	.	.		0.358	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653	
TAOK3	51347	hgsc.bcm.edu	37	12	118599689	118599689	+	Silent	SNP	C	C	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr12:118599689C>A	ENST00000392533.3	-	18	2533	c.2043G>T	c.(2041-2043)acG>acT	p.T681T	TAOK3_ENST00000543709.1_5'Flank|TAOK3_ENST00000419821.2_Silent_p.T681T|TAOK3_ENST00000537952.1_Silent_p.T221T	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	681					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTCCAGTTCCGTCTGGTGCT	0.493																																					p.T681T		Atlas-SNP	.											.	TAOK3	151	.	0			c.G2043T						.						228.0	195.0	206.0					12																	118599689		2203	4300	6503	SO:0001819	synonymous_variant	51347	exon18			CAGTTCCGTCTGG	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2043G>T	chr12.hg19:g.118599689C>A		61.0	0.0		78.0	25.0	NM_016281	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	ENST00000392533.3	hg19	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.248839	0.22880	.	.	ENSG00000135090	ENST00000359811	.	.	.	5.55	-1.67	0.08238	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.358	0.11188	0.4223:0.3753:0.1101:0.0923	.	.	.	.	X	299	.	ENSP00000352863:G299X	G	-	1	0	TAOK3	117084072	0.015000	0.18098	0.995000	0.50966	0.994000	0.84299	-0.635000	0.05471	-0.149000	0.11215	-0.256000	0.11100	GGA	.	.		0.493	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281	
TDRD3	81550	hgsc.bcm.edu	37	13	61103006	61103006	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr13:61103006G>C	ENST00000196169.3	+	11	2156	c.1368G>C	c.(1366-1368)agG>agC	p.R456S	TDRD3_ENST00000377881.2_Missense_Mutation_p.R456S|TDRD3_ENST00000535286.1_Missense_Mutation_p.R549S|TDRD3_ENST00000377894.2_Missense_Mutation_p.R456S	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	456					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TTTATGACAGGAAATCACAAA	0.279																																					p.R549S	Colon(36;164 906 35820 50723)	Atlas-SNP	.											.	TDRD3	123	.	0			c.G1647C						.						36.0	41.0	40.0					13																	61103006		2194	4296	6490	SO:0001583	missense	81550	exon11			TGACAGGAAATCA	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1368G>C	chr13.hg19:g.61103006G>C	ENSP00000196169:p.Arg456Ser	362.0	0.0		306.0	42.0	NM_001146070	B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	hg19	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721810	0.48728	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	5.74	2.99	0.34606	.	0.214739	0.53938	D	0.000045	D	0.95771	0.8624	M	0.64997	1.995	0.53688	D	0.999978	D;D;D	0.89917	0.962;1.0;0.999	P;D;D	0.83275	0.604;0.996;0.991	D	0.93871	0.7162	9	.	.	.	-16.074	9.7929	0.40717	0.2314:0.0:0.7686:0.0	.	549;455;456	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	S	456;456;456;549	ENSP00000196169:R456S;ENSP00000367113:R456S;ENSP00000367126:R456S;ENSP00000440190:R549S	.	R	+	3	2	TDRD3	60001007	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.170000	0.42443	0.406000	0.25560	-0.142000	0.14014	AGG	.	.		0.279	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794	
OR11H6	122748	hgsc.bcm.edu	37	14	20692717	20692717	+	Silent	SNP	G	G	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr14:20692717G>A	ENST00000315519.2	+	1	927	c.849G>A	c.(847-849)ggG>ggA	p.G283G		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CAACATCAGGGAACCCAGCAG	0.443																																					p.G283G		Atlas-SNP	.											.	OR11H6	60	.	0			c.G849A						.						117.0	108.0	111.0					14																	20692717		2203	4300	6503	SO:0001819	synonymous_variant	122748	exon1			ATCAGGGAACCCA		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.849G>A	chr14.hg19:g.20692717G>A		79.0	0.0		72.0	27.0	NM_001004480	Q6IF08	Silent	SNP	ENST00000315519.2	hg19	CCDS32033.1																																																																																			.	.		0.443	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1		
SALL2	6297	hgsc.bcm.edu	37	14	21992917	21992917	+	Silent	SNP	G	G	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr14:21992917G>T	ENST00000327430.3	-	2	1239	c.945C>A	c.(943-945)gcC>gcA	p.A315A	SALL2_ENST00000450879.2_Silent_p.A178A|SALL2_ENST00000538754.1_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	315					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GATGAGGCGAGGCAATCAGCT	0.637																																					p.A315A		Atlas-SNP	.											.	SALL2	95	.	0			c.C945A						.						36.0	39.0	38.0					14																	21992917		2201	4300	6501	SO:0001819	synonymous_variant	6297	exon2			AGGCGAGGCAATC	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.945C>A	chr14.hg19:g.21992917G>T		37.0	0.0		51.0	18.0	NM_005407	B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	hg19	CCDS32045.1	.	.	.	.	.	.	.	.	.	.	G	3.434	-0.115530	0.06881	.	.	ENSG00000165821	ENST00000546363	.	.	.	4.3	-1.03	0.10102	.	.	.	.	.	T	0.22513	0.0543	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.25813	-1.0121	4	.	.	.	-29.0434	3.7987	0.08750	0.3807:0.0:0.4563:0.163	.	.	.	.	H	174	.	.	P	-	2	0	SALL2	21062757	1.000000	0.71417	0.154000	0.22540	0.930000	0.56654	2.455000	0.44988	-0.452000	0.07087	0.655000	0.94253	CCT	.	.		0.637	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407	
UNC79	57578	hgsc.bcm.edu	37	14	94173087	94173087	+	Missense_Mutation	SNP	T	T	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr14:94173087T>A	ENST00000393151.2	+	50	7745	c.7745T>A	c.(7744-7746)aTt>aAt	p.I2582N	UNC79_ENST00000553484.1_Missense_Mutation_p.I2604N|UNC79_ENST00000555664.1_Missense_Mutation_p.I2543N|UNC79_ENST00000256339.4_Missense_Mutation_p.I2405N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2582					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTCCAGGCTATTCAGAACCAC	0.572																																					p.I2405N		Atlas-SNP	.											.	UNC79	366	.	0			c.T7214A						.						71.0	76.0	74.0					14																	94173087		2203	4300	6503	SO:0001583	missense	57578	exon50			AGGCTATTCAGAA	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7745T>A	chr14.hg19:g.94173087T>A	ENSP00000376858:p.Ile2582Asn	130.0	0.0		115.0	50.0	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	hg19		.	.	.	.	.	.	.	.	.	.	T	21.1	4.102135	0.76983	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.21191	2.02;2.05;2.02;2.02	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.39517	0.1081	L	0.44542	1.39	0.80722	D	1	D	0.67145	0.996	D	0.71414	0.973	T	0.14392	-1.0474	10	0.72032	D	0.01	-19.0661	16.1338	0.81465	0.0:0.0:0.0:1.0	.	2604	C9JQL1	.	N	2405;2543;2604;2582;2604	ENSP00000256339:I2405N;ENSP00000450868:I2543N;ENSP00000451360:I2604N;ENSP00000376858:I2582N	ENSP00000256339:I2405N	I	+	2	0	KIAA1409	93242840	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.216000	0.71823	0.459000	0.35465	ATT	.	.		0.572	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
AK7	122481	hgsc.bcm.edu	37	14	96953300	96953300	+	Silent	SNP	G	G	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr14:96953300G>A	ENST00000267584.4	+	17	2084	c.2040G>A	c.(2038-2040)ctG>ctA	p.L680L		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	680	DPY-30.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CAATTCCCCTGAGAAACTATT	0.393																																					p.L680L		Atlas-SNP	.											.	AK7	69	.	0			c.G2040A						.						88.0	87.0	87.0					14																	96953300		2203	4300	6503	SO:0001819	synonymous_variant	122481	exon17			TCCCCTGAGAAAC	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.2040G>A	chr14.hg19:g.96953300G>A		68.0	0.0		67.0	22.0	NM_152327	Q8IYP6	Silent	SNP	ENST00000267584.4	hg19	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	6.905	0.536470	0.13188	.	.	ENSG00000140057	ENST00000554706	.	.	.	5.45	2.41	0.29592	.	.	.	.	.	T	0.46014	0.1371	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32322	-0.9911	4	.	.	.	-21.3558	3.2749	0.06894	0.1854:0.1356:0.5405:0.1385	.	.	.	.	K	102	.	.	E	+	1	0	AK7	96023053	1.000000	0.71417	0.998000	0.56505	0.765000	0.43378	3.352000	0.52239	0.766000	0.33244	0.591000	0.81541	GAG	.	.		0.393	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1		
RYR3	6263	hgsc.bcm.edu	37	15	33961610	33961610	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr15:33961610T>C	ENST00000389232.4	+	37	5745	c.5675T>C	c.(5674-5676)aTt>aCt	p.I1892T	RYR3_ENST00000415757.3_Missense_Mutation_p.I1892T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1892	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCAGAGGAGATTCGGGAGGAG	0.458																																					p.I1892T		Atlas-SNP	.											.	RYR3	760	.	0			c.T5675C						.						101.0	100.0	100.0					15																	33961610		1879	4106	5985	SO:0001583	missense	6263	exon37			AGGAGATTCGGGA		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5675T>C	chr15.hg19:g.33961610T>C	ENSP00000373884:p.Ile1892Thr	106.0	0.0		99.0	34.0	NM_001243996	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.383338	0.61845	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.73469	-0.75;-0.34	5.29	5.29	0.74685	.	0.064498	0.64402	D	0.000007	T	0.82153	0.4975	L	0.60455	1.87	0.38780	D	0.954731	D;P	0.59357	0.985;0.94	P;P	0.60789	0.879;0.497	D	0.85571	0.1234	10	0.87932	D	0	.	15.4016	0.74845	0.0:0.0:0.0:1.0	.	1892;1892	Q15413-2;Q15413	.;RYR3_HUMAN	T	1892	ENSP00000373884:I1892T;ENSP00000399610:I1892T	ENSP00000354735:I1892T	I	+	2	0	RYR3	31748902	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.081000	0.71309	2.222000	0.72286	0.533000	0.62120	ATT	.	.		0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
NUTM1	256646	hgsc.bcm.edu	37	15	34640395	34640395	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr15:34640395G>A	ENST00000333756.4	+	2	397	c.242G>A	c.(241-243)aGt>aAt	p.S81N	NUTM1_ENST00000537011.1_Missense_Mutation_p.S109N|NUTM1_ENST00000438749.3_Missense_Mutation_p.S99N	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	81	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCTTGCCTCAGTGGGGCTGGG	0.557																																					p.S81N		Atlas-SNP	.											.	C15orf55	110	.	0			c.G242A						.						78.0	77.0	78.0					15																	34640395		2201	4298	6499	SO:0001583	missense	256646	exon2			GCCTCAGTGGGGC	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.242G>A	chr15.hg19:g.34640395G>A	ENSP00000329448:p.Ser81Asn	86.0	0.0		110.0	40.0	NM_175741	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	hg19	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645101	0.29246	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.35789	1.29;1.29;1.29	5.49	1.38	0.22167	Nuclear Testis  protein, N-terminal (1);	0.413136	0.23777	N	0.044677	T	0.36663	0.0975	L	0.52364	1.645	0.09310	N	0.999998	P;P;B	0.43938	0.822;0.787;0.011	P;B;B	0.48598	0.583;0.372;0.018	T	0.16335	-1.0406	10	0.33141	T	0.24	.	8.9065	0.35526	0.0831:0.4666:0.4503:0.0	.	99;109;81	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	N	109;99;81;81	ENSP00000444896:S109N;ENSP00000407031:S99N;ENSP00000329448:S81N	ENSP00000329448:S81N	S	+	2	0	C15orf55	32427687	0.993000	0.37304	0.704000	0.30370	0.234000	0.25298	0.417000	0.21214	0.006000	0.14734	-0.175000	0.13238	AGT	.	.		0.557	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741	
GABPB1	2553	hgsc.bcm.edu	37	15	50595257	50595257	+	Missense_Mutation	SNP	G	G	T	rs376724985		TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr15:50595257G>T	ENST00000220429.8	-	4	508	c.340C>A	c.(340-342)Cac>Aac	p.H114N	GABPB1_ENST00000560825.1_Missense_Mutation_p.H114N|GABPB1_ENST00000543881.1_Missense_Mutation_p.H38N|GABPB1_ENST00000396464.3_Missense_Mutation_p.H114N|GABPB1_ENST00000380877.3_Missense_Mutation_p.H114N|GABPB1_ENST00000429662.2_Missense_Mutation_p.H114N|GABPB1_ENST00000359031.4_Missense_Mutation_p.H114N			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	114					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TGATGATTGTGTTCTGTGGCC	0.343																																					p.H114N		Atlas-SNP	.											.	GABPB1	33	.	0			c.C340A						.						140.0	126.0	131.0					15																	50595257		2196	4295	6491	SO:0001583	missense	2553	exon4			GATTGTGTTCTGT	D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.340C>A	chr15.hg19:g.50595257G>T	ENSP00000220429:p.His114Asn	30.0	0.0		44.0	18.0	NM_016654	A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	ENST00000220429.8	hg19	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655514	0.67586	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07	6.17	6.17	0.99709	Ankyrin repeat-containing domain (3);	0.053984	0.64402	D	0.000001	T	0.48484	0.1502	N	0.17838	0.53	0.80722	D	1	B;B;P;B;B	0.35433	0.273;0.028;0.501;0.33;0.283	B;B;B;B;B	0.39706	0.211;0.026;0.297;0.307;0.204	T	0.33240	-0.9876	10	0.10636	T	0.68	-4.1401	20.8794	0.99867	0.0:0.0:1.0:0.0	.	114;114;114;114;114	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	N	114;114;38;114;114;114	ENSP00000220429:H114N;ENSP00000370259:H114N;ENSP00000442500:H38N;ENSP00000379728:H114N;ENSP00000395771:H114N;ENSP00000351923:H114N	ENSP00000220429:H114N	H	-	1	0	GABPB1	48382549	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.769000	0.85360	2.941000	0.99782	0.655000	0.94253	CAC	.	.		0.343	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1		
SLCO3A1	28232	hgsc.bcm.edu	37	15	92459362	92459362	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr15:92459362G>T	ENST00000318445.6	+	2	534	c.320G>T	c.(319-321)cGc>cTc	p.R107L	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R107L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	107					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CACCGGCCGCGCCTGATCGGC	0.677																																					p.R107L		Atlas-SNP	.											.	SLCO3A1	84	.	0			c.G320T						.						21.0	18.0	19.0					15																	92459362		2084	4064	6148	SO:0001583	missense	28232	exon2			GGCCGCGCCTGAT	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.320G>T	chr15.hg19:g.92459362G>T	ENSP00000320634:p.Arg107Leu	57.0	0.0		49.0	18.0	NM_013272	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	hg19	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010901	0.75046	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000553304	T;T;T	0.49720	0.77;0.77;0.77	5.22	3.32	0.38043	Major facilitator superfamily domain, general substrate transporter (1);	0.051348	0.85682	D	0.000000	T	0.61009	0.2313	M	0.64080	1.96	0.80722	D	1	P;D;D	0.89917	0.648;0.998;1.0	B;D;D	0.91635	0.107;0.994;0.999	T	0.56829	-0.7914	10	0.35671	T	0.21	.	9.4833	0.38913	0.0747:0.0:0.7824:0.1428	.	49;107;107	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	L	107;107;49	ENSP00000320634:R107L;ENSP00000387846:R107L;ENSP00000450559:R49L	ENSP00000320634:R107L	R	+	2	0	SLCO3A1	90260366	1.000000	0.71417	0.994000	0.49952	0.906000	0.53458	9.199000	0.95003	0.691000	0.31592	0.655000	0.94253	CGC	.	.		0.677	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272	
HAGHL	84264	hgsc.bcm.edu	37	16	778845	778845	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr16:778845A>G	ENST00000341413.4	+	7	831	c.550A>G	c.(550-552)Aaa>Gaa	p.K184E	HAGHL_ENST00000549114.1_3'UTR|HAGHL_ENST00000564545.1_3'UTR|NARFL_ENST00000562862.1_5'Flank|HAGHL_ENST00000389703.3_Missense_Mutation_p.K184E|CCDC78_ENST00000293889.6_5'Flank|HAGHL_ENST00000561546.1_Missense_Mutation_p.K184E|HAGHL_ENST00000564537.1_3'UTR			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	184							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			lung(3)	3		Hepatocellular(780;0.00335)				GTTTGCCCAGAAAGTGGAGCC	0.662																																					p.K184E	Pancreas(46;538 1326 12403 32360)	Atlas-SNP	.											.	HAGHL	18	.	0			c.A550G						.						27.0	27.0	27.0					16																	778845		2186	4293	6479	SO:0001583	missense	84264	exon6			GCCCAGAAAGTGG	AK054841	CCDS32354.1	16p13.3	2008-02-05	2003-11-04						14177	protein-coding gene	gene with protein product			"""hydroxyacyl glutathione hydrolase-like"""			12477932	Standard	XM_005255629		Approved	MGC2605	uc002cjo.1	Q6PII5		ENST00000341413.4:c.550A>G	chr16.hg19:g.778845A>G	ENSP00000341952:p.Lys184Glu	171.0	0.0		129.0	51.0	NM_032304	A6NCC4|D3DU64|Q59FX8|Q96BZ3|Q96NR5|Q96S11|Q9BT45	Missense_Mutation	SNP	ENST00000341413.4	hg19		.	.	.	.	.	.	.	.	.	.	A	13.01	2.107910	0.37242	.	.	ENSG00000103253	ENST00000341413;ENST00000389703	D;D	0.95554	-3.74;-3.74	4.68	-0.551	0.11822	.	0.318671	0.29410	N	0.012225	D	0.92103	0.7497	N	0.22421	0.69	0.09310	N	1	D;D;D	0.65815	0.978;0.995;0.967	P;P;B	0.59115	0.588;0.852;0.437	D	0.85408	0.1135	10	0.27785	T	0.31	-6.8329	5.2321	0.15428	0.5008:0.3257:0.1734:0.0	.	184;184;184	B4DED4;Q6PII5-2;Q6PII5	.;.;HAGHL_HUMAN	E	184	ENSP00000341952:K184E;ENSP00000374353:K184E	ENSP00000341952:K184E	K	+	1	0	HAGHL	718846	0.000000	0.05858	0.005000	0.12908	0.278000	0.26855	0.804000	0.27098	-0.120000	0.11809	0.459000	0.35465	AAA	.	.		0.662	HAGHL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409607.1	NM_032304	
IGFALS	3483	hgsc.bcm.edu	37	16	1841152	1841152	+	Missense_Mutation	SNP	C	C	G	rs200564045		TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr16:1841152C>G	ENST00000215539.3	-	2	1377	c.1267G>C	c.(1267-1269)Gtg>Ctg	p.V423L	IGFALS_ENST00000415638.3_Missense_Mutation_p.V461L			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	423					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						TCAATGCCCACGAGGCCGTTG	0.692																																					p.V461L		Atlas-SNP	.											.	IGFALS	29	.	0			c.G1381C						.						18.0	22.0	21.0					16																	1841152		2186	4285	6471	SO:0001583	missense	3483	exon2			TGCCCACGAGGCC	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.1267G>C	chr16.hg19:g.1841152C>G	ENSP00000215539:p.Val423Leu	74.0	0.0		51.0	22.0	NM_001146006	B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	hg19	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	C	3.077	-0.189835	0.06299	.	.	ENSG00000099769	ENST00000215539;ENST00000415638	T;T	0.24151	1.87;1.87	4.68	-9.35	0.00633	.	0.965904	0.08571	N	0.926114	T	0.13286	0.0322	L	0.31926	0.97	0.09310	N	1	B;B	0.26081	0.141;0.024	B;B	0.22880	0.04;0.042	T	0.15037	-1.0451	10	0.34782	T	0.22	.	6.5128	0.22232	0.3895:0.3294:0.0:0.2811	.	461;423	E9PGU3;P35858	.;ALS_HUMAN	L	423;461	ENSP00000215539:V423L;ENSP00000416683:V461L	ENSP00000215539:V423L	V	-	1	0	IGFALS	1781153	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.109000	0.03309	-2.028000	0.00931	-0.397000	0.06425	GTG	.	.		0.692	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2		
ANKS3	124401	hgsc.bcm.edu	37	16	4780104	4780104	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr16:4780104C>T	ENST00000304283.4	-	3	341	c.47G>A	c.(46-48)cGc>cAc	p.R16H	RP11-127I20.7_ENST00000588099.1_RNA|ANKS3_ENST00000592711.1_Missense_Mutation_p.R16H|ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000446014.2_5'UTR|ANKS3_ENST00000585773.1_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	16										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GGACAAGCTGCGGTTCAGGAG	0.597																																					p.R16H		Atlas-SNP	.											.	ANKS3	44	.	0			c.G47A						.						75.0	62.0	67.0					16																	4780104		2197	4300	6497	SO:0001583	missense	124401	exon3			AAGCTGCGGTTCA	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.47G>A	chr16.hg19:g.4780104C>T	ENSP00000304586:p.Arg16His	61.0	0.0		69.0	28.0	NM_133450	B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	hg19	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418416	0.62622	.	.	ENSG00000168096	ENST00000304283	T	0.36699	1.24	5.82	4.87	0.63330	.	0.427454	0.27896	N	0.017413	T	0.16981	0.0408	N	0.03608	-0.345	0.80722	D	1	B	0.23735	0.09	B	0.16289	0.015	T	0.07597	-1.0764	10	0.17369	T	0.5	-4.3007	14.0612	0.64802	0.0:0.9281:0.0:0.0719	.	16	Q6ZW76	ANKS3_HUMAN	H	16	ENSP00000304586:R16H	ENSP00000304586:R16H	R	-	2	0	ANKS3	4720105	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.320000	0.51991	1.477000	0.48234	0.561000	0.74099	CGC	.	.		0.597	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450	
NFAT5	10725	hgsc.bcm.edu	37	16	69724937	69724937	+	Missense_Mutation	SNP	A	A	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr16:69724937A>C	ENST00000354436.2	+	11	2133	c.1815A>C	c.(1813-1815)gaA>gaC	p.E605D	NFAT5_ENST00000567239.1_Missense_Mutation_p.E622D|NFAT5_ENST00000432919.1_Missense_Mutation_p.E623D|NFAT5_ENST00000393742.2_Missense_Mutation_p.E529D|NFAT5_ENST00000349945.1_Missense_Mutation_p.E529D|NFAT5_ENST00000566899.1_Missense_Mutation_p.E529D	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	605					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTAAGAGTGAAGATGTTACTC	0.348																																					p.E623D		Atlas-SNP	.											.	NFAT5	184	.	0			c.A1869C						.						103.0	101.0	101.0					16																	69724937		2198	4297	6495	SO:0001583	missense	10725	exon12			GAGTGAAGATGTT	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1815A>C	chr16.hg19:g.69724937A>C	ENSP00000346420:p.Glu605Asp	196.0	0.0		131.0	78.0	NM_138713	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	hg19	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	A	32	5.134342	0.94517	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.52295	0.69;0.67;0.68;0.67	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	L	0.56769	1.78	0.58432	D	0.999998	D;D;D	0.63880	0.993;0.993;0.984	P;P;D	0.68192	0.864;0.864;0.956	T	0.59252	-0.7489	10	0.26408	T	0.33	-3.2161	15.3914	0.74747	1.0:0.0:0.0:0.0	.	622;605;623	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	D	623;622;529;605;529	ENSP00000396538:E623D;ENSP00000338806:E529D;ENSP00000346420:E605D;ENSP00000377343:E529D	ENSP00000338806:E529D	E	+	3	2	NFAT5	68282438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.394000	0.66285	2.042000	0.60477	0.533000	0.62120	GAA	.	.		0.348	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714	
EZH1	2145	hgsc.bcm.edu	37	17	40854591	40854591	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr17:40854591G>A	ENST00000428826.2	-	21	2324	c.2203C>T	c.(2203-2205)Ctc>Ttc	p.L735F	EZH1_ENST00000592743.1_Missense_Mutation_p.L735F|EZH1_ENST00000435174.1_Missense_Mutation_p.L596F|EZH1_ENST00000415827.2_Missense_Mutation_p.L726F|EZH1_ENST00000590078.1_Missense_Mutation_p.L665F|EZH1_ENST00000585893.1_Missense_Mutation_p.L695F|EZH1_ENST00000590783.1_5'Flank			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	735				VVMVNGDHRIGIFAKRAIQAGEELFFDYRYSQADALKYVGI ERETDVL -> GESQ (in Ref. 2; BAA25019). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		ACGTACTTGAGAGCATCAGCT	0.562																																					p.L735F		Atlas-SNP	.											.	EZH1	62	.	0			c.C2203T						.						123.0	85.0	98.0					17																	40854591		2199	4296	6495	SO:0001583	missense	2145	exon21			ACTTGAGAGCATC		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.2203C>T	chr17.hg19:g.40854591G>A	ENSP00000404658:p.Leu735Phe	94.0	0.0		113.0	12.0	NM_001991	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	hg19	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997112	0.93167	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.82526	-1.62;-1.62	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.90693	0.7080	M	0.70903	2.155	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.997	D;D;D;D	0.72625	0.978;0.978;0.978;0.973	D	0.91106	0.4918	10	0.72032	D	0.01	.	19.1135	0.93328	0.0:0.0:1.0:0.0	.	596;695;741;735	Q92800-5;Q92800-3;Q92800-2;Q92800	.;.;.;EZH1_HUMAN	F	738;735;695;596	ENSP00000404658:L735F;ENSP00000404071:L596F	ENSP00000264646:L738F	L	-	1	0	EZH1	38108117	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.619000	0.61218	2.757000	0.94681	0.462000	0.41574	CTC	.	.		0.562	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991	
SRSF1	6426	hgsc.bcm.edu	37	17	56082880	56082880	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr17:56082880G>T	ENST00000258962.4	-	4	842	c.634C>A	c.(634-636)Cgt>Agt	p.R212S	RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000582730.2_3'UTR|SRSF1_ENST00000584773.1_Missense_Mutation_p.R212S	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	212	Arg/Ser-rich (RS domain).|Interacts with SAFB1.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|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)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTCTGCTACGACTACGGCTT	0.512																																					p.R212S		Atlas-SNP	.											.	SRSF1	41	.	0			c.C634A						.						158.0	146.0	150.0					17																	56082880		2203	4300	6503	SO:0001583	missense	6426	exon4			TGCTACGACTACG		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.634C>A	chr17.hg19:g.56082880G>T	ENSP00000258962:p.Arg212Ser	119.0	0.0		106.0	47.0	NM_006924	B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	hg19	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328364	0.24080	.	.	ENSG00000136450	ENST00000258962	T	0.19394	2.15	5.65	4.67	0.58626	.	0.825711	0.11230	N	0.585740	T	0.23133	0.0559	L	0.46157	1.445	0.80722	D	1	B	0.12013	0.005	B	0.06405	0.002	T	0.04281	-1.0963	10	0.24483	T	0.36	.	16.8491	0.85989	0.0:0.1285:0.8715:0.0	.	212	Q07955	SRSF1_HUMAN	S	212	ENSP00000258962:R212S	ENSP00000258962:R212S	R	-	1	0	SRSF1	53437879	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.581000	0.74045	1.488000	0.48433	0.650000	0.86243	CGT	.	.		0.512	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924	
CEP95	90799	hgsc.bcm.edu	37	17	62506387	62506387	+	Missense_Mutation	SNP	C	C	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr17:62506387C>G	ENST00000556440.2	+	3	755	c.245C>G	c.(244-246)tCt>tGt	p.S82C	CEP95_ENST00000581056.1_Missense_Mutation_p.S82C|CEP95_ENST00000553412.1_5'UTR	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	82						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GTCAGCTTGTCTCACATAACA	0.353																																					p.S82C		Atlas-SNP	.											.	CEP95	103	.	0			c.C245G						.						111.0	101.0	104.0					17																	62506387		1920	4143	6063	SO:0001583	missense	90799	exon3			GCTTGTCTCACAT	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.245C>G	chr17.hg19:g.62506387C>G	ENSP00000450461:p.Ser82Cys	103.0	0.0		120.0	43.0	NM_138363	B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	hg19	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402941	0.42613	.	.	ENSG00000258890	ENST00000553956;ENST00000556440	T;T	0.35236	1.32;1.32	5.76	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.65697	-0.6105	10	0.52906	T	0.07	-11.9883	16.1905	0.81986	0.1343:0.8657:0.0:0.0	.	82	Q96GE4	CEP95_HUMAN	C	82	ENSP00000452317:S82C;ENSP00000450461:S82C	ENSP00000438458:S82C	S	+	2	0	CEP95	59936849	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	6.761000	0.74945	1.433000	0.47394	-0.324000	0.08512	TCT	.	.		0.353	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363	
UTS2R	2837	hgsc.bcm.edu	37	17	80332945	80332945	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr17:80332945G>C	ENST00000313135.2	+	1	793	c.745G>C	c.(745-747)Gcc>Ccc	p.A249P		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	249					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CTTCAAgcgggcccggcggcc	0.756																																					p.A249P		Atlas-SNP	.											.	UTS2R	25	.	0			c.G745C						.						2.0	3.0	2.0					17																	80332945		1489	3167	4656	SO:0001583	missense	2837	exon1			AAGCGGGCCCGGC	AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"""G protein-coupled receptor 14"""	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.745G>C	chr17.hg19:g.80332945G>C	ENSP00000323516:p.Ala249Pro	31.0	0.0		21.0	11.0	NM_018949	B2RMV8	Missense_Mutation	SNP	ENST00000313135.2	hg19	CCDS11810.1	.	.	.	.	.	.	.	.	.	.	G	6.912	0.537893	0.13188	.	.	ENSG00000181408	ENST00000313135	T	0.37584	1.19	4.86	-6.49	0.01890	GPCR, rhodopsin-like superfamily (1);	0.067292	0.64402	U	0.000015	T	0.16599	0.0399	L	0.31420	0.93	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.05305	-1.0893	10	0.66056	D	0.02	.	2.0181	0.03502	0.3206:0.3512:0.2141:0.1141	.	249	Q9UKP6	UR2R_HUMAN	P	249	ENSP00000323516:A249P	ENSP00000323516:A249P	A	+	1	0	UTS2R	77926234	0.121000	0.22262	0.000000	0.03702	0.002000	0.02628	0.778000	0.26732	-1.088000	0.03077	-1.130000	0.01982	GCC	.	.		0.756	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1	NM_018949	
FOXK2	3607	hgsc.bcm.edu	37	17	80477826	80477826	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr17:80477826G>C	ENST00000335255.5	+	1	236	c.62G>C	c.(61-63)gGg>gCg	p.G21A		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	21	Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). {ECO:0000305}.	positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ggcggggccgggggcggcggg	0.846																																					p.G21A		Atlas-SNP	.											FOXK2,NS,carcinoma,0,1	FOXK2	46	.	0			c.G62C						.						1.0	1.0	1.0					17																	80477826		122	223	345	SO:0001583	missense	3607	exon1			GGGCCGGGGGCGG	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.62G>C	chr17.hg19:g.80477826G>C	ENSP00000335677:p.Gly21Ala	2.0	0.0		3.0	2.0	NM_004514	A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	hg19	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	.	2.177	-0.388435	0.04932	.	.	ENSG00000141568	ENST00000335255;ENST00000335241	D	0.93076	-3.16	1.8	1.8	0.24995	.	.	.	.	.	D	0.89375	0.6697	N	0.08118	0	0.25222	N	0.98989	D;D;D	0.71674	0.998;0.996;0.998	D;D;D	0.68621	0.959;0.91;0.959	T	0.80350	-0.1419	9	0.14252	T	0.57	.	6.724	0.23346	0.0:0.0:1.0:0.0	.	21;21;21	Q01167-3;Q01167;Q01167-2	.;FOXK2_HUMAN;.	A	21	ENSP00000335677:G21A	ENSP00000334321:G21A	G	+	2	0	FOXK2	78071115	0.917000	0.31117	0.403000	0.26384	0.773000	0.43773	0.923000	0.28757	0.820000	0.34516	0.486000	0.48141	GGG	.	.		0.846	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430	
LPIN2	9663	hgsc.bcm.edu	37	18	2920307	2920307	+	Missense_Mutation	SNP	A	A	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr18:2920307A>T	ENST00000261596.4	-	20	2913	c.2675T>A	c.(2674-2676)cTg>cAg	p.L892Q	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	892					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CAGGTCATCCAGGTCCACTTC	0.597																																					p.L892Q		Atlas-SNP	.											.	LPIN2	75	.	0			c.T2675A						.						54.0	51.0	52.0					18																	2920307		2203	4300	6503	SO:0001583	missense	9663	exon20			TCATCCAGGTCCA	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2675T>A	chr18.hg19:g.2920307A>T	ENSP00000261596:p.Leu892Gln	116.0	0.0		134.0	43.0	NM_014646	A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	hg19	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	A	18.90	3.721232	0.68959	.	.	ENSG00000101577	ENST00000261596	D	0.81908	-1.55	5.92	5.92	0.95590	.	0.289862	0.37623	N	0.002010	D	0.84379	0.5459	M	0.71036	2.16	0.39025	D	0.959823	P	0.45634	0.863	P	0.44561	0.453	D	0.85259	0.1049	10	0.36615	T	0.2	.	16.3648	0.83312	1.0:0.0:0.0:0.0	.	892	Q92539	LPIN2_HUMAN	Q	892	ENSP00000261596:L892Q	ENSP00000261596:L892Q	L	-	2	0	LPIN2	2910307	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	4.521000	0.60532	2.263000	0.75096	0.533000	0.62120	CTG	.	.		0.597	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646	
LAMA1	284217	hgsc.bcm.edu	37	18	7026082	7026082	+	Silent	SNP	G	G	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr18:7026082G>T	ENST00000389658.3	-	17	2391	c.2298C>A	c.(2296-2298)ggC>ggA	p.G766G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	766	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CACAGTGGACGCCGGTGGTGT	0.562																																					p.G766G		Atlas-SNP	.											.	LAMA1	458	.	0			c.C2298A						.						42.0	32.0	35.0					18																	7026082		2203	4299	6502	SO:0001819	synonymous_variant	284217	exon17			GTGGACGCCGGTG	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2298C>A	chr18.hg19:g.7026082G>T		161.0	0.0		155.0	51.0	NM_005559		Silent	SNP	ENST00000389658.3	hg19	CCDS32787.1																																																																																			.	.		0.562	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
DCC	1630	hgsc.bcm.edu	37	18	50734122	50734122	+	Nonsense_Mutation	SNP	T	T	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr18:50734122T>A	ENST00000442544.2	+	11	2412	c.1796T>A	c.(1795-1797)tTa>tAa	p.L599*	DCC_ENST00000412726.1_Nonsense_Mutation_p.L447*|DCC_ENST00000581580.1_Nonsense_Mutation_p.L254*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	599	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTTCGATTCTTAGCTTATAAT	0.363																																					p.L599X		Atlas-SNP	.											.	DCC	360	.	0			c.T1796A						.						148.0	153.0	151.0					18																	50734122		2203	4300	6503	SO:0001587	stop_gained	1630	exon11			GATTCTTAGCTTA	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1796T>A	chr18.hg19:g.50734122T>A	ENSP00000389140:p.Leu599*	75.0	0.0		96.0	15.0	NM_005215		Nonsense_Mutation	SNP	ENST00000442544.2	hg19	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	40	8.202669	0.98704	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	.	.	.	5.83	5.83	0.93111	.	0.097761	0.40818	N	0.001005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	15.1823	0.72968	0.0:0.0:0.0:1.0	.	.	.	.	X	599;532;447	.	ENSP00000304146:L532X	L	+	2	0	DCC	48988120	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.587000	0.74071	2.240000	0.73641	0.528000	0.53228	TTA	.	.		0.363	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
CCDC68	80323	hgsc.bcm.edu	37	18	52604189	52604189	+	Splice_Site	SNP	G	G	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr18:52604189G>T	ENST00000591504.1	-	6	620	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	CCDC68_ENST00000432185.1_Splice_Site_p.L116M|CCDC68_ENST00000337363.4_Splice_Site_p.L116M	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	116										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GAGGCTTGCAGCTAGAAAAAA	0.408																																					p.L116M		Atlas-SNP	.											.	CCDC68	38	.	0			c.C346A						.						96.0	86.0	89.0					18																	52604189		2203	4300	6503	SO:0001630	splice_region_variant	80323	exon6			CTTGCAGCTAGAA		CCDS11959.1	18q21	2006-02-07			ENSG00000166510	ENSG00000166510			24350	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma associated antigen"""					11149944, 15142679	Standard	NM_025214		Approved	SE57-1	uc002lft.3	Q9H2F9	OTTHUMG00000132708	ENST00000591504.1:c.346-1C>A	chr18.hg19:g.52604189G>T		48.0	0.0		72.0	30.0	NM_025214	B2R9I3	Missense_Mutation	SNP	ENST00000591504.1	hg19	CCDS11959.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357158	0.61293	.	.	ENSG00000166510	ENST00000337363;ENST00000432185	T;T	0.48201	0.82;0.82	5.53	2.25	0.28309	.	0.000000	0.48767	D	0.000169	T	0.63212	0.2492	M	0.73598	2.24	0.32562	N	0.53092	D	0.89917	1.0	D	0.91635	0.999	T	0.69397	-0.5156	10	0.56958	D	0.05	-7.9276	8.3355	0.32213	0.3055:0.0:0.6945:0.0	.	116	Q9H2F9	CCD68_HUMAN	M	116	ENSP00000337209:L116M;ENSP00000413406:L116M	ENSP00000337209:L116M	L	-	1	2	CCDC68	50755187	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.004000	0.29822	0.813000	0.34350	0.650000	0.86243	CTG	.	.		0.408	CCDC68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256006.1	NM_025214	Missense_Mutation
ZNF236	7776	hgsc.bcm.edu	37	18	74672680	74672680	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr18:74672680A>G	ENST00000253159.8	+	30	5480	c.5282A>G	c.(5281-5283)cAg>cGg	p.Q1761R	ZNF236_ENST00000320610.9_Missense_Mutation_p.Q1763R	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1761					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCCTTCAACCAGAAGAGTGCG	0.522																																					p.Q1761R		Atlas-SNP	.											.	ZNF236	325	.	0			c.A5282G						.						112.0	118.0	116.0					18																	74672680		2011	4191	6202	SO:0001583	missense	7776	exon30			TCAACCAGAAGAG	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.5282A>G	chr18.hg19:g.74672680A>G	ENSP00000253159:p.Gln1761Arg	71.0	0.0		111.0	39.0	NM_007345	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	hg19	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523993	0.44866	.	.	ENSG00000130856	ENST00000253159	T	0.07444	3.19	5.29	4.13	0.48395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.05547	0.0146	N	0.10837	0.055	0.51012	D	0.999907	P	0.40578	0.722	B	0.40825	0.341	T	0.50466	-0.8825	10	0.36615	T	0.2	.	11.0637	0.47964	0.9273:0.0:0.0727:0.0	.	1761	Q9UL36	ZN236_HUMAN	R	1761	ENSP00000253159:Q1761R	ENSP00000253159:Q1761R	Q	+	2	0	ZNF236	72801668	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.924000	0.92827	0.857000	0.35407	0.533000	0.62120	CAG	.	.		0.522	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		
ZNF99	7652	hgsc.bcm.edu	37	19	22940974	22940974	+	Missense_Mutation	SNP	A	A	T	rs531461646		TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr19:22940974A>T	ENST00000596209.1	-	4	1827	c.1737T>A	c.(1735-1737)caT>caA	p.H579Q	ZNF99_ENST00000397104.3_Missense_Mutation_p.H488Q	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	579					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTCTAGTAAGATGTGAAGATT	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		20367	0.0		0.001	False		,,,				2504	0.0				p.H579Q		Atlas-SNP	.											.	ZNF99	273	.	0			c.T1737A						.						52.0	55.0	54.0					19																	22940974		2088	4234	6322	SO:0001583	missense	7652	exon4			AGTAAGATGTGAA	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1737T>A	chr19.hg19:g.22940974A>T	ENSP00000472969:p.His579Gln	205.0	0.0		248.0	86.0	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	hg19	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	0.004	-2.261918	0.00262	.	.	ENSG00000213973	ENST00000397104	T	0.13196	2.61	1.44	-2.88	0.05682	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06005	0.0156	N	0.20530	0.585	0.09310	N	1	B	0.26445	0.149	B	0.28232	0.087	T	0.36212	-0.9757	9	0.12766	T	0.61	.	1.0921	0.01665	0.3595:0.3386:0.1339:0.168	.	488	A8MXY4	ZNF99_HUMAN	Q	488	ENSP00000380293:H488Q	ENSP00000380293:H488Q	H	-	3	2	ZNF99	22732814	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.546000	0.00932	-2.705000	0.00396	-1.395000	0.01148	CAT	.	.		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
PLA2G4C	8605	hgsc.bcm.edu	37	19	48598746	48598746	+	Silent	SNP	A	A	C			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr19:48598746A>C	ENST00000599921.1	-	7	1041	c.684T>G	c.(682-684)ccT>ccG	p.P228P	PLA2G4C_ENST00000413144.2_Silent_p.P228P|PLA2G4C_ENST00000354276.3_Silent_p.P228P|PLA2G4C_ENST00000599111.1_Silent_p.P238P			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	228	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GGTCTCTCTCAGGGTGAGTTC	0.542																																					p.P238P		Atlas-SNP	.											.	PLA2G4C	76	.	0			c.T714G						.						117.0	132.0	127.0					19																	48598746		2203	4300	6503	SO:0001819	synonymous_variant	8605	exon7			TCTCTCAGGGTGA	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.684T>G	chr19.hg19:g.48598746A>C		74.0	0.0		94.0	21.0	NM_001159322	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	hg19	CCDS12710.1																																																																																			.	.		0.542	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1		
PLA2G4C	8605	hgsc.bcm.edu	37	19	48598748	48598748	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr19:48598748G>A	ENST00000599921.1	-	7	1039	c.682C>T	c.(682-684)Cct>Tct	p.P228S	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.P228S|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.P228S|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.P238S			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	228	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCTCTCTCAGGGTGAGTTCTG	0.542																																					p.P238S		Atlas-SNP	.											.	PLA2G4C	76	.	0			c.C712T						.						118.0	133.0	128.0					19																	48598748		2203	4300	6503	SO:0001583	missense	8605	exon7			TCTCAGGGTGAGT	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.682C>T	chr19.hg19:g.48598748G>A	ENSP00000469473:p.Pro228Ser	73.0	0.0		94.0	21.0	NM_001159322	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	hg19	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434007	0.62955	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.06068	3.35;3.35	3.31	0.941	0.19519	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.163986	0.40144	U	0.001176	T	0.22166	0.0534	M	0.88512	2.96	0.24709	N	0.993217	D;D	0.89917	1.0;0.997	D;D	0.73708	0.981;0.955	T	0.05225	-1.0898	10	0.72032	D	0.01	-4.3176	4.6451	0.12568	0.1367:0.2252:0.6381:0.0	.	238;228	B4DI40;Q9UP65	.;PA24C_HUMAN	S	228	ENSP00000346228:P228S;ENSP00000400036:P228S	ENSP00000346228:P228S	P	-	1	0	PLA2G4C	53290560	0.959000	0.32827	0.111000	0.21465	0.831000	0.47069	1.301000	0.33447	0.031000	0.15407	0.205000	0.17691	CCT	.	.		0.542	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1		
HSPA12B	116835	hgsc.bcm.edu	37	20	3730781	3730781	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr20:3730781C>T	ENST00000254963.2	+	11	1353	c.1208C>T	c.(1207-1209)gCa>gTa	p.A403V	HSPA12B_ENST00000542646.1_Missense_Mutation_p.A237V	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	403							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CCACACCGTGCAGGGGCGCTC	0.632																																					p.A403V		Atlas-SNP	.											.	HSPA12B	43	.	0			c.C1208T						.						21.0	21.0	21.0					20																	3730781		2201	4299	6500	SO:0001583	missense	116835	exon11			ACCGTGCAGGGGC	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.1208C>T	chr20.hg19:g.3730781C>T	ENSP00000254963:p.Ala403Val	98.0	0.0		126.0	43.0	NM_052970	D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	hg19	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372665	0.61624	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.09817	2.94;2.94;2.94	5.31	5.31	0.75309	.	0.515319	0.21821	N	0.068615	T	0.07234	0.0183	N	0.08118	0	0.46396	D	0.999023	B;B	0.12630	0.006;0.006	B;B	0.13407	0.009;0.009	T	0.39354	-0.9618	10	0.31617	T	0.26	.	16.8598	0.86014	0.0:1.0:0.0:0.0	.	402;403	B7ZLP2;Q96MM6	.;HS12B_HUMAN	V	403;237;317	ENSP00000254963:A403V;ENSP00000441506:A237V;ENSP00000382608:A317V	ENSP00000254963:A403V	A	+	2	0	HSPA12B	3678781	0.357000	0.24938	0.011000	0.14972	0.613000	0.37349	4.680000	0.61656	2.650000	0.89964	0.551000	0.68910	GCA	.	.		0.632	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970	
PTPRT	11122	hgsc.bcm.edu	37	20	41306596	41306596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr20:41306596C>A	ENST00000373187.1	-	7	1062	c.1063G>T	c.(1063-1065)Gag>Tag	p.E355*	PTPRT_ENST00000373198.4_Nonsense_Mutation_p.E355*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.E355*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.E355*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.E355*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.E355*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.E355*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	355	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATCTCATACTCAACATCGGGG	0.577																																					p.E355X		Atlas-SNP	.											.	PTPRT	372	.	0			c.G1063T						.						125.0	127.0	127.0					20																	41306596		1981	4171	6152	SO:0001587	stop_gained	11122	exon7			CATACTCAACATC	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1063G>T	chr20.hg19:g.41306596C>A	ENSP00000362283:p.Glu355*	96.0	0.0		121.0	46.0	NM_007050	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	ENST00000373187.1	hg19	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	39	7.798242	0.98495	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.1814	0.93625	0.0:1.0:0.0:0.0	.	.	.	.	X	355	.	ENSP00000348408:E355X	E	-	1	0	PTPRT	40740010	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	5.959000	0.70339	2.705000	0.92388	0.655000	0.94253	GAG	.	.		0.577	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
PPP1R3D	5509	hgsc.bcm.edu	37	20	58514513	58514513	+	Silent	SNP	A	A	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr20:58514513A>G	ENST00000370996.3	-	1	839	c.474T>C	c.(472-474)gaT>gaC	p.D158D	FAM217B_ENST00000358293.3_Intron|FAM217B_ENST00000360816.3_5'Flank	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	158					dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			GCGGCGGGAAATCGGGCACCA	0.672																																					p.D158D		Atlas-SNP	.											.	PPP1R3D	23	.	0			c.T474C						.						17.0	20.0	19.0					20																	58514513		2175	4248	6423	SO:0001819	synonymous_variant	5509	exon1			CGGGAAATCGGGC	Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.474T>C	chr20.hg19:g.58514513A>G		165.0	0.0		147.0	27.0	NM_006242	Q6DK02	Silent	SNP	ENST00000370996.3	hg19	CCDS13483.1																																																																																			.	.		0.672	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	NM_006242	
LAMA5	3911	hgsc.bcm.edu	37	20	60890252	60890252	+	Missense_Mutation	SNP	T	T	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr20:60890252T>G	ENST00000252999.3	-	59	7945	c.7879A>C	c.(7879-7881)Aag>Cag	p.K2627Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2627	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCGATCTTCTTGCTTGTCTCG	0.627																																					p.K2627Q		Atlas-SNP	.											.	LAMA5	268	.	0			c.A7879C						.						35.0	36.0	36.0					20																	60890252		2197	4288	6485	SO:0001583	missense	3911	exon59			TCTTCTTGCTTGT	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7879A>C	chr20.hg19:g.60890252T>G	ENSP00000252999:p.Lys2627Gln	25.0	0.0		20.0	7.0	NM_005560	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	hg19	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	t	7.421	0.636824	0.14386	.	.	ENSG00000130702	ENST00000252999	T	0.18960	2.18	4.02	-1.56	0.08532	.	0.559587	0.19189	N	0.120468	T	0.12433	0.0302	L	0.40543	1.245	0.22591	N	0.998957	B	0.12013	0.005	B	0.06405	0.002	T	0.36237	-0.9756	10	0.13853	T	0.58	.	7.2242	0.26005	0.0:0.6545:0.1746:0.1709	.	2627	O15230	LAMA5_HUMAN	Q	2627	ENSP00000252999:K2627Q	ENSP00000252999:K2627Q	K	-	1	0	LAMA5	60323647	0.039000	0.19947	0.601000	0.28877	0.593000	0.36681	-0.003000	0.12901	-0.463000	0.06973	0.375000	0.23000	AAG	.	.		0.627	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	
DSCAM	1826	hgsc.bcm.edu	37	21	41385098	41385098	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr21:41385098C>T	ENST00000400454.1	-	33	6379	c.5902G>A	c.(5902-5904)Gtg>Atg	p.V1968M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1968				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AATGTGGCCACGGCCCCCGGC	0.652																																					p.V1968M	Melanoma(134;970 1778 1785 21664 32388)	Atlas-SNP	.											DSCAM,colon,carcinoma,0,1	DSCAM	347	.	0			c.G5902A						.						27.0	30.0	29.0					21																	41385098		1934	4142	6076	SO:0001583	missense	1826	exon33			TGGCCACGGCCCC	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5902G>A	chr21.hg19:g.41385098C>T	ENSP00000383303:p.Val1968Met	90.0	0.0		107.0	48.0	NM_001389	O60468	Missense_Mutation	SNP	ENST00000400454.1	hg19	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	.	16.97	3.267763	0.59540	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.60171	0.21;0.32	5.39	5.39	0.77823	.	0.121903	0.56097	D	0.000031	T	0.39600	0.1084	N	0.08118	0	0.44194	D	0.997015	P	0.36660	0.564	B	0.31337	0.128	T	0.47394	-0.9121	10	0.56958	D	0.05	.	19.17	0.93574	0.0:1.0:0.0:0.0	.	1968	O60469	DSCAM_HUMAN	M	1968;1702	ENSP00000383303:V1968M;ENSP00000385342:V1702M	ENSP00000383303:V1968M	V	-	1	0	DSCAM	40306968	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	5.562000	0.67346	2.521000	0.84997	0.557000	0.71058	GTG	.	.		0.652	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
PWP2	5822	hgsc.bcm.edu	37	21	45545890	45545890	+	Splice_Site	SNP	A	A	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr21:45545890A>T	ENST00000291576.7	+	16	2092		c.e16-1			NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)						signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TTGCTGTTCTAGGAATTTTTG	0.542																																					.		Atlas-SNP	.											.	PWP2	64	.	0			c.1966-2A>T						.						83.0	83.0	83.0					21																	45545890		2203	4300	6503	SO:0001630	splice_region_variant	5822	exon16			TGTTCTAGGAATT		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1966-1A>T	chr21.hg19:g.45545890A>T		63.0	0.0		56.0	21.0	NM_005049	B2RAG8|Q96A77	Splice_Site	SNP	ENST00000291576.7	hg19	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236941	0.58886	.	.	ENSG00000241945	ENST00000291576	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4484	0.55664	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PWP2	44370318	1.000000	0.71417	0.986000	0.45419	0.860000	0.49131	7.576000	0.82467	1.813000	0.52934	0.482000	0.46254	.	.	.		0.542	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049	Intron
IL17RA	23765	hgsc.bcm.edu	37	22	17589625	17589625	+	Missense_Mutation	SNP	G	G	C	rs561912993		TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr22:17589625G>C	ENST00000319363.6	+	13	1649	c.1516G>C	c.(1516-1518)Gag>Cag	p.E506Q		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	506	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)	p.E506*(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTACTTCAGCGAGGTCAGCTG	0.627																																					p.E506Q		Atlas-SNP	.											IL17RA,NS,carcinoma,0,1	IL17RA	62	.	1	Substitution - Nonsense(1)	lung(1)	c.G1516C						.						30.0	30.0	30.0					22																	17589625		2203	4300	6503	SO:0001583	missense	23765	exon13			TTCAGCGAGGTCA	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1516G>C	chr22.hg19:g.17589625G>C	ENSP00000320936:p.Glu506Gln	71.0	0.0		71.0	3.0	NM_014339	O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	hg19	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.826944	0.50739	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.30182	1.54	5.2	5.2	0.72013	SEFIR (1);	0.314770	0.33650	N	0.004693	T	0.28896	0.0717	N	0.19112	0.55	0.36559	D	0.872317	P;P	0.49307	0.922;0.902	P;P	0.47346	0.506;0.544	T	0.14896	-1.0456	10	0.30854	T	0.27	-12.7135	18.732	0.91738	0.0:0.0:1.0:0.0	.	454;506	D3YTB4;Q96F46	.;I17RA_HUMAN	Q	454;506	ENSP00000320936:E506Q	ENSP00000320936:E506Q	E	+	1	0	IL17RA	15969625	1.000000	0.71417	0.167000	0.22817	0.009000	0.06853	7.897000	0.87356	2.425000	0.82216	0.462000	0.41574	GAG	.	.		0.627	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339	
TUBGCP6	85378	hgsc.bcm.edu	37	22	50656996	50656996	+	Silent	SNP	G	G	A	rs373718907	byFrequency	TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr22:50656996G>A	ENST00000248846.5	-	22	4979	c.4875C>T	c.(4873-4875)agC>agT	p.S1625S	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1625					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.S1625S(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGAAGACGCCGCTGTACTTGC	0.642													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17239	0.0		0.0	False		,,,				2504	0.0				p.S1625S		Atlas-SNP	.											TUBGCP6,NS,carcinoma,0,1	TUBGCP6	132	.	1	Substitution - coding silent(1)	kidney(1)	c.C4875T						.	G		0,4406		0,0,2203	52.0	48.0	49.0		4875	1.2	1.0	22		49	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TUBGCP6	NM_020461.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1625/1820	50656996	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	85378	exon22			GACGCCGCTGTAC	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4875C>T	chr22.hg19:g.50656996G>A		196.0	0.0		141.0	55.0	NM_020461	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	hg19	CCDS14087.1																																																																																			.	.		0.642	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461	
ARX	170302	hgsc.bcm.edu	37	X	25022795	25022795	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chrX:25022795C>A	ENST00000379044.4	-	5	1891	c.1681G>T	c.(1681-1683)Gtg>Ttg	p.V561L		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	561					axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			kidney(1)|large_intestine(2)|lung(1)	4						CTTTAGCACACCTCCTTGCCC	0.657																																					p.V561L		Atlas-SNP	.											.	ARX	19	.	0			c.G1681T						.						7.0	8.0	8.0					X																	25022795		1842	3405	5247	SO:0001583	missense	170302	exon5			AGCACACCTCCTT	AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"""Homeoboxes / PRD class"""	18060	protein-coding gene	gene with protein product	"""cancer/testis antigen 121"""	300382	"""mental retardation, X-linked 54"", ""mental retardation, X-linked 43"", ""mental retardation, X-linked 36"", ""mental retardation, X-linked 29"", ""mental retardation, X-linked 32"", ""mental retardation, X-linked 33"", ""mental retardation, X-linked 38"", ""mental retardation, X-linked 87"", ""mental retardation, X-linked 76"""	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.1681G>T	chrX.hg19:g.25022795C>A	ENSP00000368332:p.Val561Leu	85.0	0.0		68.0	56.0	NM_139058		Missense_Mutation	SNP	ENST00000379044.4	hg19	CCDS14215.1	.	.	.	.	.	.	.	.	.	.	c	25.0	4.597087	0.87055	.	.	ENSG00000004848	ENST00000379044	D	0.92965	-3.14	3.93	3.93	0.45458	.	0.000000	0.64402	D	0.000002	D	0.89801	0.6820	L	0.38531	1.155	0.53688	D	0.999979	D	0.54207	0.965	P	0.47044	0.535	D	0.90977	0.4824	10	0.62326	D	0.03	.	15.0075	0.71524	0.0:1.0:0.0:0.0	.	561	Q96QS3	ARX_HUMAN	L	561	ENSP00000368332:V561L	ENSP00000368332:V561L	V	-	1	0	ARX	24932716	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.218000	0.65257	1.793000	0.52555	0.431000	0.28591	GTG	.	.		0.657	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056109.1		
NR0B1	190	hgsc.bcm.edu	37	X	30327147	30327147	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chrX:30327147C>T	ENST00000378970.4	-	1	568	c.334G>A	c.(334-336)Gat>Aat	p.D112N	NR0B1_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Missense_Mutation_p.D112N	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	112	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	ACCCCGGGATCAGAGCCGCAC	0.682											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D112N		Atlas-SNP	.											.	NR0B1	61	.	0			c.G334A						.						21.0	24.0	23.0					X																	30327147		2196	4285	6481	SO:0001583	missense	190	exon1			CGGGATCAGAGCC	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.334G>A	chrX.hg19:g.30327147C>T	ENSP00000368253:p.Asp112Asn	131.0	0.0	816	117.0	11.0	NM_000475	Q96F69	Missense_Mutation	SNP	ENST00000378970.4	hg19	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444103	0.25987	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.97772	-3.69;-4.53	4.42	3.48	0.39840	.	0.347180	0.21084	N	0.080433	D	0.91821	0.7412	N	0.08118	0	0.09310	N	1	B	0.33777	0.425	B	0.31495	0.131	D	0.87560	0.2471	10	0.87932	D	0	-4.4626	9.2072	0.37296	0.0:0.6808:0.3192:0.0	.	112	P51843	NR0B1_HUMAN	N	112	ENSP00000368253:D112N;ENSP00000396403:D112N	ENSP00000368253:D112N	D	-	1	0	NR0B1	30237068	0.002000	0.14202	0.241000	0.24154	0.215000	0.24574	0.960000	0.29253	2.167000	0.68274	0.513000	0.50165	GAT	.	.		0.682	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475	
WDR45	11152	hgsc.bcm.edu	37	X	48932926	48932926	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chrX:48932926C>A	ENST00000376372.3	-	10	1023	c.842G>T	c.(841-843)gGc>gTc	p.G281V	WDR45_ENST00000553851.1_Intron|WDR45_ENST00000322995.8_Missense_Mutation_p.G292V|WDR45_ENST00000473974.1_Intron|WDR45_ENST00000396681.4_Missense_Mutation_p.G267V|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000376368.2_Missense_Mutation_p.G282V|WDR45_ENST00000465431.1_5'Flank|PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000485908.1_Missense_Mutation_p.G246V|AF196779.12_ENST00000376358.3_Intron|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000356463.3_Missense_Mutation_p.G282V	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	281					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CCCCACCTTGCCCACGCGAGC	0.642																																					p.G282V		Atlas-SNP	.											.	WDR45	40	.	0			c.G845T						.						25.0	23.0	24.0					X																	48932926		2203	4300	6503	SO:0001583	missense	11152	exon11			ACCTTGCCCACGC	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.842G>T	chrX.hg19:g.48932926C>A	ENSP00000365551:p.Gly281Val	146.0	0.0		103.0	69.0	NM_007075	A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	hg19	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252555	0.59212	.	.	ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000376368;ENST00000396681	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	4.09	2.05	0.26809	.	0.000000	0.85682	D	0.000000	D	0.84252	0.5431	M	0.64170	1.965	0.80722	D	1	P;D;D;D	0.89917	0.937;1.0;0.999;0.996	P;D;D;D	0.76575	0.672;0.979;0.988;0.924	D	0.84560	0.0649	10	0.62326	D	0.03	-21.2042	12.0233	0.53356	0.0:0.6757:0.3243:0.0	.	292;246;282;281	Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;WIPI4_HUMAN	V	281;292;282;246;282;267	ENSP00000365551:G281V;ENSP00000365543:G292V;ENSP00000348848:G282V;ENSP00000419897:G246V;ENSP00000365546:G282V;ENSP00000379913:G267V	ENSP00000365543:G292V	G	-	2	0	WDR45	48819870	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.080000	0.76837	0.797000	0.33971	0.409000	0.27619	GGC	.	.		0.642	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075	
MT-ND1	4535	hgsc.bcm.edu	37	M	4257	4257	+	Silent	SNP	A	A	G			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chrM:4257A>G	ENST00000361390.2	+	1	951	c.951A>G	c.(949-951)caA>caG	p.Q317Q	MT-TN_ENST00000387400.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-CO1_ENST00000361624.2_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TV_ENST00000387342.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	317					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATTCCCCCTCAAACCTAAGAA	0.383																																					p.Q317Q		Atlas-SNP	.											.	.	.	.	0			c.A951G						.																																			SO:0001819	synonymous_variant	10625	exon1			CCCTCAAACCTAA			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.951A>G	chrM.hg19:g.4257A>G		8.0	0.0		52.0	7.0	ENST00000361390	C0JKH6|Q37523	Silent	SNP	ENST00000361390.2	hg19																																																																																				.	.		0.383	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024026	
ROBO4	54538	hgsc.bcm.edu	37	11	124767647	124767656	+	Frame_Shift_Del	DEL	CAGGGAACCC	CAGGGAACCC	-			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	CAGGGAACCC	CAGGGAACCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr11:124767647_124767656delCAGGGAACCC	ENST00000306534.3	-	1	521_530	c.36_45delGGGTTCCCTG	c.(34-45)aggggttccctgfs	p.RGSL12fs	ROBO4_ENST00000533054.1_5'UTR|ROBO4_ENST00000526899.1_Intron	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	12					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCAGCAGAGGCAGGGAACCCCTGCCCCCCA	0.619																																					p.13_16del		Atlas-INDEL	.											.	ROBO4	130	.	0			c.37_46del						.																																			SO:0001589	frameshift_variant	54538	exon1			.	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.36_45delGGGTTCCCTG	chr11.hg19:g.124767647_124767656delCAGGGAACCC	ENSP00000304945:p.Arg12fs	304.0	0.0		235.0	42.0	NM_019055	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Frame_Shift_Del	DEL	ENST00000306534.3	hg19	CCDS8455.1																																																																																			.	.		0.619	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055	
TP53	7157	hgsc.bcm.edu	37	17	7577572	7577572	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr17:7577572delT	ENST00000269305.4	-	7	898	c.709delA	c.(709-711)atgfs	p.M237fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.M237fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.M237fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.M237fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.M237fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Frame_Shift_Del_p.M237fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.M237V(6)|p.?(5)|p.M237L(5)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.H233fs*6(1)|p.M144L(1)|p.M237_N239delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGTTACACATGTAGTTGTAG	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.M237fs	Pancreas(47;798 1329 9957 10801)	Atlas-Indel,Pindel	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53_ENST00000545858,NS,adenocarcinoma,+1,30	TP53	33396	.	36	Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Deletion - In frame(4)|Insertion - In frame(1)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(6)|breast(6)|biliary_tract(5)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|urinary_tract(2)|ovary(2)|cervix(1)|stomach(1)|large_intestine(1)|lung(1)|pancreas(1)	c.710delT						.						128.0	101.0	110.0					17																	7577572		2203	4300	6503	SO:0001589	frameshift_variant	7157	exon7	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	.	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.709delA	chr17.hg19:g.7577572delT	ENSP00000269305:p.Met237fs	81.0	0.0		44.0	28.0	NM_001126112	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	hg19	CCDS11118.1																																																																																			.	.		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
UGT1A6	54578	hgsc.bcm.edu	37	2	234681067	234681087	+	In_Frame_Del	DEL	CTTGGACGTGATTGGTTTCCT	CTTGGACGTGATTGGTTTCCT	-	rs114123636	byFrequency	TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	CTTGGACGTGATTGGTTTCCT	CTTGGACGTGATTGGTTTCCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr2:234681067_234681087delCTTGGACGTGATTGGTTTCCT	ENST00000305139.6	+	5	1600_1620	c.1461_1481delCTTGGACGTGATTGGTTTCCT	c.(1459-1482)tccttggacgtgattggtttcctc>tcc	p.LDVIGFL488del	UGT1A9_ENST00000354728.4_In_Frame_Del_p.LDVIGFL486del|UGT1A1_ENST00000608381.1_In_Frame_Del_p.LDVIGFL490del|UGT1A5_ENST00000373414.3_In_Frame_Del_p.LDVIGFL490del|UGT1A1_ENST00000609637.1_In_Frame_Del_p.LDVIGFL486del|UGT1A1_ENST00000609767.1_In_Frame_Del_p.LDVIGFL490del|UGT1A8_ENST00000305208.5_In_Frame_Del_p.LDVIGFL489del|UGT1A1_ENST00000608383.1_In_Frame_Del_p.LDVIGFL489del|UGT1A10_ENST00000344644.5_In_Frame_Del_p.LDVIGFL486del|UGT1A4_ENST00000373409.3_In_Frame_Del_p.LDVIGFL490del|UGT1A3_ENST00000482026.1_In_Frame_Del_p.LDVIGFL490del|UGT1A1_ENST00000373450.4_In_Frame_Del_p.LDVIGFL486del|UGT1A7_ENST00000373426.3_In_Frame_Del_p.LDVIGFL486del|UGT1A6_ENST00000373424.1_In_Frame_Del_p.LDVIGFL221del	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	488					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	AGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTC	0.561																																					p.489_496del		Atlas-Indel,Pindel	.											.	UGT1A5	66	.	0			c.1466_1486del	GRCh37	CM066253	UGT1A1	M		.																																			SO:0001651	inframe_deletion	54579	exon5			.	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.1461_1481delCTTGGACGTGATTGGTTTCCT	chr2.hg19:g.234681067_234681087delCTTGGACGTGATTGGTTTCCT	ENSP00000303174:p.Leu488_Leu494del	143.0	0.0		126.0	10.0	NM_019078	A6NKK6|B8K289|Q96TE7	In_Frame_Del	DEL	ENST00000305139.6	hg19	CCDS2507.1																																																																																			.	.		0.561	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862	
METTL11B	149281	hgsc.bcm.edu	37	1	170135847	170135847	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr1:170135847delC	ENST00000439373.2	+	3	642	c.535delC	c.(535-537)cccfs	p.P180fs	METTL11B_ENST00000367764.3_3'UTR	NM_001136107.1	NP_001129579.1	Q5VVY1	NTM1B_HUMAN	methyltransferase like 11B	180						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			NS(1)|breast(2)|endometrium(3)|prostate(2)	8						GGAATTCACACCCCCCTTCAG	0.493																																					p.T178fs		Atlas-Indel,Pindel	.											.	METTL11B	18	.	0			c.534delA						.						90.0	79.0	82.0					1																	170135847		692	1591	2283	SO:0001589	frameshift_variant	149281	exon3			.	AL445203, CAH72139	CCDS44275.1	1q24.2	2012-11-05	2008-06-11	2008-06-11	ENSG00000203740	ENSG00000203740			31932	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 184"""	C1orf184			Standard	NM_001136107		Approved	HOMT1B	uc009wvv.1	Q5VVY1	OTTHUMG00000035959	ENST00000439373.2:c.535delC	chr1.hg19:g.170135847delC	ENSP00000408058:p.Pro180fs	133.0	0.0		87.0	56.0	NM_001136107	B2RXI0	Frame_Shift_Del	DEL	ENST00000439373.2	hg19	CCDS44275.1																																																																																			.	.		0.493	METTL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087586.2	NM_001136107	
ROBO4	54538	hgsc.bcm.edu	37	11	124767659	124767660	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr11:124767659_124767660delGC	ENST00000306534.3	-	1	517_518	c.32_33delGC	c.(31-33)ggcfs	p.G11fs	ROBO4_ENST00000533054.1_5'UTR|ROBO4_ENST00000526899.1_Intron	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	11					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGAACCCCTGCCCCCCAGGAG	0.619																																					p.11_12del		Atlas-INDEL	.											.	ROBO4	130	.	0			c.33_34del						.																																			SO:0001589	frameshift_variant	54538	exon1			.	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.32_33delGC	chr11.hg19:g.124767659_124767660delGC	ENSP00000304945:p.Gly11fs	272.0	0.0		217.0	42.0	NM_019055	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Frame_Shift_Del	DEL	ENST00000306534.3	hg19	CCDS8455.1																																																																																			.	.		0.619	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055	
CPSF2	53981	hgsc.bcm.edu	37	14	92625383	92625414	+	Frame_Shift_Del	DEL	TGAATTAGCTTGGATAGATGGTGTCTTAGATA	TGAATTAGCTTGGATAGATGGTGTCTTAGATA	-	rs369230200		TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	TGAATTAGCTTGGATAGATGGTGTCTTAGATA	TGAATTAGCTTGGATAGATGGTGTCTTAGATA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr14:92625383_92625414delTGAATTAGCTTGGATAGATGGTGTCTTAGATA	ENST00000298875.4	+	14	2163_2194	c.1878_1909delTGAATTAGCTTGGATAGATGGTGTCTTAGATA	c.(1876-1911)gctgaattagcttggatagatggtgtcttagatatgfs	p.ELAWIDGVLDM627fs		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	627					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		CAAAAGATGCTGAATTAGCTTGGATAGATGGTGTCTTAGATATGAGAGTTTC	0.418																																					p.626_636del	Ovarian(78;28 1788 18702 44111)	Atlas-Indel,Pindel	.											CPSF2,NS,carcinoma,0,1	CPSF2	63	.	0			c.1877_1908del						.																																			SO:0001589	frameshift_variant	53981	exon14			.	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.1878_1909delTGAATTAGCTTGGATAGATGGTGTCTTAGATA	chr14.hg19:g.92625383_92625414delTGAATTAGCTTGGATAGATGGTGTCTTAGATA	ENSP00000298875:p.Glu627fs	222.0	0.0		190.0	32.0	NM_017437	B3KME1|Q6NSJ1|Q9H3W7	Frame_Shift_Del	DEL	ENST00000298875.4	hg19	CCDS9902.1																																																																																			.	.		0.418	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1		
ENKUR	219670	hgsc.bcm.edu	37	10	25284594	25284594	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr10:25284594delG	ENST00000331161.4	-	3	647	c.428delC	c.(427-429)ccafs	p.P143fs	ENKUR_ENST00000376363.1_Frame_Shift_Del_p.P143fs	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	143						motile cilium (GO:0031514)		p.P143Q(1)		endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						GATGTACTTTGGAACTAGTCC	0.348																																					p.P143fs		Atlas-Indel,Pindel	.											.	ENKUR	30	.	1	Substitution - Missense(1)	lung(1)	c.429delA						.						149.0	145.0	146.0					10																	25284594		2203	4300	6503	SO:0001589	frameshift_variant	219670	exon3			.	AK095021	CCDS7146.1, CCDS73075.1	10p12.31	2014-08-13	2009-04-28	2009-04-28	ENSG00000151023	ENSG00000151023			28388	protein-coding gene	gene with protein product		611025	"""chromosome 10 open reading frame 63"""	C10orf63		17217053, 15385169	Standard	NM_145010		Approved	MGC26778, enkurin, CFAP106	uc001isg.2	Q8TC29	OTTHUMG00000017827	ENST00000331161.4:c.428delC	chr10.hg19:g.25284594delG	ENSP00000331044:p.Pro143fs	68.0	0.0		111.0	44.0	NM_145010	A8K8Y0|D3DRV2	Frame_Shift_Del	DEL	ENST00000331161.4	hg19	CCDS7146.1																																																																																			.	.		0.348	ENKUR-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047239.2	NM_145010	
TF	7018	hgsc.bcm.edu	37	3	133483097	133483120	+	Splice_Site	DEL	TGTCTTGGCAGAAAACTACAATAG	TGTCTTGGCAGAAAACTACAATAG	-	rs113133048		TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	TGTCTTGGCAGAAAACTACAATAG	TGTCTTGGCAGAAAACTACAATAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr3:133483097_133483120delTGTCTTGGCAGAAAACTACAATAG	ENST00000402696.3	+	10	1760_1782	c.1275_1297delTGTCTTGGCAGAAAACTACAATAG	c.(1273-1299)cctgtcttggcagaaaactacaataga>ccga	p.VLAENYNR426del	TF_ENST00000264998.3_Splice_Site_p.VLAENYNR299del	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	426	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GTCTGGTGCCTGTCTTGGCAGAAAACTACAATAGTAAGTGGTGG	0.487																																					p.425_433del		Pindel	.											.	TF	116	.	0			c.1274_1297del						.																																			SO:0001630	splice_region_variant	7018	exon10			.		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1297+1TGTCTTGGCAGAAAACTACAATAG>-	chr3.hg19:g.133483097_133483120delTGTCTTGGCAGAAAACTACAATAG		85.0	0.0		79.0	18.0	NM_001063	O43890|Q1HBA5|Q9NQB8|Q9UHV0	In_Frame_Del	DEL	ENST00000402696.3	hg19	CCDS3080.1																																																																																			.	.		0.487	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063	In_Frame_Del
ROBO4	54538	hgsc.bcm.edu	37	11	124767648	124767660	+	Frame_Shift_Del	DEL	AGGGAACCCCTGC	AGGGAACCCCTGC	-	rs79793746	byFrequency	TCGA-2Y-A9HA-01A-11D-A38X-10	TCGA-2Y-A9HA-10A-01D-A38X-10	AGGGAACCCCTGC	AGGGAACCCCTGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	606c736e-1be8-44fc-b474-9dea8b63538f	c6d9a5a6-64e5-45ab-8251-ed6d2f3514aa	g.chr11:124767648_124767660delAGGGAACCCCTGC	ENST00000306534.3	-	1	517_529	c.32_44delGCAGGGGTTCCCT	c.(31-45)ggcaggggttccctgfs	p.GRGSL11fs	ROBO4_ENST00000533054.1_5'UTR|ROBO4_ENST00000526899.1_Intron	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	11					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CAGCAGAGGCAGGGAACCCCTGCCCCCCAGGAG	0.62																																					p.11_15del		Pindel	.											.	ROBO4	130	.	0			c.33_45del						.																																			SO:0001589	frameshift_variant	54538	exon1			.	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.32_44delGCAGGGGTTCCCT	chr11.hg19:g.124767648_124767660delAGGGAACCCCTGC	ENSP00000304945:p.Gly11fs	290.0	0.0		229.0	44.0	NM_019055	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Frame_Shift_Del	DEL	ENST00000306534.3	hg19	CCDS8455.1																																																																																			.	.		0.620	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055	
