#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
NPHP4	261734	hgsc.bcm.edu	37	1	5964775	5964775	+	Missense_Mutation	SNP	C	C	T	rs543023683		TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr1:5964775C>T	ENST00000378156.4	-	16	2310	c.2045G>A	c.(2044-2046)cGa>cAa	p.R682Q	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	682					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTGCAGTCGTGGCGTCGT	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19337	0.001		0.0	False		,,,				2504	0.0				p.R682Q		Atlas-SNP	.											NPHP4,colon,carcinoma,0,1	NPHP4	119	.	0			c.G2045A						.						84.0	88.0	87.0					1																	5964775		2079	4216	6295	SO:0001583	missense	261734	exon16			TGCAGTCGTGGCG	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2045G>A	chr1.hg19:g.5964775C>T	ENSP00000367398:p.Arg682Gln	210.0	2.0		297.0	33.0	NM_015102	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	hg19	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875568	0.72180	.	.	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.88509	-2.39	5.1	5.1	0.69264	.	0.091255	0.46442	D	0.000281	D	0.93485	0.7921	M	0.64404	1.975	0.47009	D	0.999283	D	0.89917	1.0	D	0.83275	0.996	D	0.93666	0.6986	10	0.54805	T	0.06	.	17.5221	0.87790	0.0:1.0:0.0:0.0	.	682	O75161	NPHP4_HUMAN	Q	682;85	ENSP00000367398:R682Q	ENSP00000367398:R682Q	R	-	2	0	NPHP4	5887362	1.000000	0.71417	0.724000	0.30704	0.558000	0.35554	4.701000	0.61810	2.364000	0.80123	0.655000	0.94253	CGA	.	.		0.602	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2		
CELA3A	10136	hgsc.bcm.edu	37	1	22336295	22336295	+	Missense_Mutation	SNP	T	T	C	rs572609699		TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr1:22336295T>C	ENST00000290122.3	+	7	759	c.740T>C	c.(739-741)aTc>aCc	p.I247T	RNU6-776P_ENST00000364403.1_RNA|RN7SL186P_ENST00000466485.2_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	247	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGCAACTTCATCTGGAAGCCC	0.612																																					p.I247T		Atlas-SNP	.											.	CELA3A	35	.	0			c.T740C						.						79.0	70.0	73.0					1																	22336295		2197	4300	6497	SO:0001583	missense	10136	exon7			ACTTCATCTGGAA	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.740T>C	chr1.hg19:g.22336295T>C	ENSP00000290122:p.Ile247Thr	326.0	0.0		375.0	61.0	NM_005747	B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	hg19	CCDS220.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.215979	0.00289	.	.	ENSG00000142789	ENST00000290122;ENST00000400271	D;D	0.87966	-2.32;-2.32	3.65	-7.3	0.01446	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.62319	0.2418	N	0.03194	-0.395	0.09310	N	0.999999	B	0.02656	0.0	B	0.12156	0.007	T	0.53194	-0.8473	9	0.23891	T	0.37	4.6722	1.582	0.02636	0.3376:0.0804:0.2881:0.2938	.	247	P09093	CEL3A_HUMAN	T	247;55	ENSP00000290122:I247T;ENSP00000383130:I55T	ENSP00000290122:I247T	I	+	2	0	CELA3A	22208882	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.530000	0.00220	-2.937000	0.00298	-3.637000	0.00026	ATC	.	.		0.612	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747	
C1QA	712	hgsc.bcm.edu	37	1	22965803	22965803	+	Missense_Mutation	SNP	A	A	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr1:22965803A>T	ENST00000374642.3	+	3	845	c.641A>T	c.(640-642)cAg>cTg	p.Q214L	C1QA_ENST00000402322.1_Missense_Mutation_p.Q214L	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	214	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGGTGACCAGGTCTGGGTT	0.602																																					p.Q214L		Atlas-SNP	.											.	C1QA	31	.	0			c.A641T						.						57.0	62.0	60.0					1																	22965803		2203	4300	6503	SO:0001583	missense	712	exon3			GTGACCAGGTCTG	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"""Complement system"""	1241	protein-coding gene	gene with protein product		120550	"""complement component 1, q subcomponent, alpha polypeptide"""			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.641A>T	chr1.hg19:g.22965803A>T	ENSP00000363773:p.Gln214Leu	95.0	0.0		123.0	23.0	NM_015991	B2R4X2|Q5T963	Missense_Mutation	SNP	ENST00000374642.3	hg19	CCDS226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.26|13.26	2.183717|2.183717	0.38609|0.38609	.|.	.|.	ENSG00000173372|ENSG00000173372	ENST00000374642;ENST00000438241;ENST00000402322|ENST00000339353	T;T;T|.	0.76448|.	-1.02;-1.02;-1.02|.	5.55|5.55	3.23|3.23	0.37069|0.37069	Tumour necrosis factor-like (2);Complement C1q protein (4);|.	.|0.356712	.|0.20636	.|N	.|0.088498	T|T	0.59059|0.59059	0.2166|0.2166	M|M	0.82517|0.82517	2.595|2.595	0.27136|0.27136	N|N	0.961765|0.961765	B|.	0.33238|.	0.403|.	B|.	0.35039|.	0.194|.	T|T	0.56275|0.56275	-0.8006|-0.8006	9|7	0.51188|0.87932	T|D	0.08|0	-0.9218|-0.9218	8.3424|8.3424	0.32252|0.32252	0.7679:0.0:0.2321:0.0|0.7679:0.0:0.2321:0.0	.|.	214|.	P02745|.	C1QA_HUMAN|.	L|W	214|209	ENSP00000363773:Q214L;ENSP00000416841:Q214L;ENSP00000385564:Q214L|.	ENSP00000363773:Q214L|ENSP00000341271:R209W	Q|R	+|+	2|1	0|2	C1QA|C1QA	22838390|22838390	0.384000|0.384000	0.25164|0.25164	0.998000|0.998000	0.56505|0.56505	0.265000|0.265000	0.26407|0.26407	0.792000|0.792000	0.26929|0.26929	0.395000|0.395000	0.25257|0.25257	0.459000|0.459000	0.35465|0.35465	CAG|AGG	.	.		0.602	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991	
JUN	3725	hgsc.bcm.edu	37	1	59248012	59248012	+	Missense_Mutation	SNP	G	G	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr1:59248012G>A	ENST00000371222.2	-	1	1773	c.731C>T	c.(730-732)cCc>cTc	p.P244L	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	244					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	CATGTCGATGGGGGACAGGGG	0.652			A		sarcoma																																p.P244L		Atlas-SNP	.		Dom	yes		1	1p32-p31	3725	jun oncogene		M	.	JUN	26	.	0			c.C731T						.						40.0	44.0	43.0					1																	59248012		2203	4300	6503	SO:0001583	missense	3725	exon1			TCGATGGGGGACA	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"""basic leucine zipper proteins"""	6204	protein-coding gene	gene with protein product		165160	"""v-jun avian sarcoma virus 17 oncogene homolog"", ""v-jun sarcoma virus 17 oncogene homolog (avian)"", ""jun oncogene"""			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.731C>T	chr1.hg19:g.59248012G>A	ENSP00000360266:p.Pro244Leu	69.0	0.0		81.0	19.0	NM_002228	Q6FHM7|Q96G93	Missense_Mutation	SNP	ENST00000371222.2	hg19	CCDS610.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594171	0.86953	.	.	ENSG00000177606	ENST00000371222	T	0.28454	1.61	4.15	4.15	0.48705	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.63295	0.2499	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74210	-0.3739	10	0.87932	D	0	-0.2551	16.6369	0.85061	0.0:0.0:1.0:0.0	.	244	P05412	JUN_HUMAN	L	244	ENSP00000360266:P244L	ENSP00000360266:P244L	P	-	2	0	JUN	59020600	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.544000	0.98092	2.127000	0.65507	0.561000	0.74099	CCC	.	.		0.652	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228	
ABCA4	24	hgsc.bcm.edu	37	1	94578571	94578571	+	Missense_Mutation	SNP	T	T	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr1:94578571T>C	ENST00000370225.3	-	2	204	c.118A>G	c.(118-120)Atc>Gtc	p.I40V	ABCA4_ENST00000535735.1_Missense_Mutation_p.I40V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	40					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTTAACCAGATCAAGACCAGA	0.443																																					p.I40V		Atlas-SNP	.											.	ABCA4	275	.	0			c.A118G						.						118.0	110.0	113.0					1																	94578571		2203	4300	6503	SO:0001583	missense	24	exon2			ACCAGATCAAGAC	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.118A>G	chr1.hg19:g.94578571T>C	ENSP00000359245:p.Ile40Val	202.0	0.0		216.0	29.0	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	hg19	CCDS747.1	.	.	.	.	.	.	.	.	.	.	T	8.344	0.829365	0.16749	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.87256	-2.23;-2.23	5.92	4.8	0.61643	.	0.426017	0.26023	N	0.026808	T	0.54046	0.1834	N	0.05199	-0.095	0.37225	D	0.905411	B;B	0.18310	0.027;0.001	B;B	0.18871	0.023;0.001	T	0.54536	-0.8279	10	0.19590	T	0.45	.	5.8343	0.18599	0.0:0.2233:0.0:0.7767	.	40;40	F5H6E5;P78363	.;ABCA4_HUMAN	V	40	ENSP00000359245:I40V;ENSP00000437682:I40V	ENSP00000359245:I40V	I	-	1	0	ABCA4	94351159	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.749000	0.55150	2.265000	0.75225	0.448000	0.29417	ATC	.	.		0.443	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
EFNA3	1944	hgsc.bcm.edu	37	1	155057577	155057577	+	Missense_Mutation	SNP	G	G	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr1:155057577G>A	ENST00000368408.3	+	2	209	c.139G>A	c.(139-141)Gag>Aag	p.E47K	EFNA3_ENST00000505139.1_Missense_Mutation_p.E42K|EFNA3_ENST00000556931.1_Missense_Mutation_p.E42K|EFNA3_ENST00000418360.2_Missense_Mutation_p.E47K	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	47	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTGCGGCGAGAGGGCTACAC	0.657											OREG0013849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E47K		Atlas-SNP	.											.	EFNA3	15	.	0			c.G139A						.						44.0	50.0	48.0					1																	155057577		2203	4295	6498	SO:0001583	missense	1944	exon2			CGGCGAGAGGGCT	BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"""Ephrins"""	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.139G>A	chr1.hg19:g.155057577G>A	ENSP00000357393:p.Glu47Lys	127.0	0.0	1767	137.0	27.0	NM_004952	B7ZAD3|D3DV85|Q0VGC9|Q5SR70	Missense_Mutation	SNP	ENST00000368408.3	hg19	CCDS1090.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050978	0.93740	.	.	ENSG00000143590;ENSG00000143590;ENSG00000143590;ENSG00000251246	ENST00000556931;ENST00000368408;ENST00000418360;ENST00000505139	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.02	5.02	0.67125	Cupredoxin (2);	0.106082	0.64402	D	0.000006	T	0.30479	0.0766	L	0.33485	1.01	0.53688	D	0.999978	P;B;P	0.47350	0.894;0.04;0.894	P;B;P	0.48063	0.565;0.1;0.565	T	0.07501	-1.0769	10	0.49607	T	0.09	-11.9798	15.8307	0.78749	0.0:0.0:1.0:0.0	.	47;42;47	B7ZAD3;B4DXG7;P52797	.;.;EFNA3_HUMAN	K	42;47;47;42	ENSP00000450814:E42K;ENSP00000357393:E47K;ENSP00000391370:E47K;ENSP00000426741:E42K	ENSP00000357393:E47K	E	+	1	0	RP11-540D14.8;EFNA3	153324201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.658000	0.83755	2.353000	0.79882	0.561000	0.74099	GAG	.	.		0.657	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085429.1	NM_004952	
CCT3	7203	hgsc.bcm.edu	37	1	156303388	156303388	+	Missense_Mutation	SNP	C	C	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr1:156303388C>G	ENST00000295688.3	-	5	534	c.254G>C	c.(253-255)cGg>cCg	p.R85P	CCT3_ENST00000472765.2_Missense_Mutation_p.R40P|CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000368259.2_Missense_Mutation_p.R47P|CCT3_ENST00000368261.3_Missense_Mutation_p.R40P	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	85					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ATCCTGGGTCCGGCTAATTTC	0.413																																					p.R85P		Atlas-SNP	.											.	CCT3	61	.	0			c.G254C						.						136.0	136.0	136.0					1																	156303388		2203	4300	6503	SO:0001583	missense	7203	exon5			TGGGTCCGGCTAA	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.254G>C	chr1.hg19:g.156303388C>G	ENSP00000295688:p.Arg85Pro	52.0	0.0		55.0	5.0	NM_005998	A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	hg19	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784350	0.90282	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765;ENST00000413555;ENST00000496684;ENST00000533194;ENST00000446905;ENST00000478640;ENST00000415548	T;T;T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.84	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.90314	0.6970	H	0.98005	4.125	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	D	0.92745	0.6211	10	0.87932	D	0	-15.7251	10.8293	0.46650	0.0:0.9134:0.0:0.0866	.	47;85;85	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	P	85;47;40;40;109;85;6;71;64;85	ENSP00000295688:R85P;ENSP00000357242:R47P;ENSP00000357244:R40P;ENSP00000431543:R40P;ENSP00000413308:R109P;ENSP00000434232:R85P;ENSP00000434481:R6P;ENSP00000388799:R71P;ENSP00000435026:R64P;ENSP00000413431:R85P	ENSP00000295688:R85P	R	-	2	0	CCT3	154570012	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.192000	0.77771	1.472000	0.48140	0.650000	0.86243	CGG	.	.		0.413	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998	
ASTN1	460	hgsc.bcm.edu	37	1	176853524	176853524	+	Silent	SNP	G	G	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr1:176853524G>T	ENST00000367654.3	-	19	3412	c.3201C>A	c.(3199-3201)ctC>ctA	p.L1067L	ASTN1_ENST00000424564.2_Silent_p.L1059L|ASTN1_ENST00000361833.2_Silent_p.L1059L|ASTN1_ENST00000367657.3_Silent_p.L1059L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1067	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTCTTGACGGAGGAGGTAAT	0.517																																					p.L1059L		Atlas-SNP	.											.	ASTN1	314	.	0			c.C3177A						.						160.0	133.0	142.0					1																	176853524		2203	4300	6503	SO:0001819	synonymous_variant	460	exon19			TTGACGGAGGAGG	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3201C>A	chr1.hg19:g.176853524G>T		175.0	0.0		196.0	28.0	NM_004319	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	hg19																																																																																				.	.		0.517	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
PLA2G4A	5321	hgsc.bcm.edu	37	1	186909157	186909157	+	Missense_Mutation	SNP	G	G	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr1:186909157G>T	ENST00000367466.3	+	10	1116	c.964G>T	c.(964-966)Gca>Tca	p.A322S	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.A262S	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	322	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	AGTTAATACTGCACAATGCCC	0.378																																					p.A322S		Atlas-SNP	.											.	PLA2G4A	125	.	0			c.G964T						.						160.0	150.0	153.0					1																	186909157		2203	4300	6503	SO:0001583	missense	5321	exon10			AATACTGCACAAT	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.964G>T	chr1.hg19:g.186909157G>T	ENSP00000356436:p.Ala322Ser	73.0	0.0		70.0	14.0	NM_024420	B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	hg19	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004029	0.54254	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.13538	2.58;2.58	5.67	5.67	0.87782	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.257363	0.44285	D	0.000464	T	0.17831	0.0428	L	0.40543	1.245	0.39919	D	0.974134	B;B	0.27559	0.181;0.152	B;B	0.33121	0.12;0.158	T	0.03524	-1.1028	10	0.72032	D	0.01	-8.2661	18.7591	0.91843	0.0:0.0:1.0:0.0	.	262;322	E7EU42;P47712	.;PA24A_HUMAN	S	322;262	ENSP00000356436:A322S;ENSP00000406892:A262S	ENSP00000356436:A322S	A	+	1	0	PLA2G4A	185175780	0.999000	0.42202	0.007000	0.13788	0.193000	0.23685	7.795000	0.85887	2.661000	0.90470	0.650000	0.86243	GCA	.	.		0.378	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	
IGFN1	91156	hgsc.bcm.edu	37	1	201184848	201184848	+	Silent	SNP	G	G	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr1:201184848G>T	ENST00000335211.4	+	15	9307	c.9177G>T	c.(9175-9177)ggG>ggT	p.G3059G	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_Silent_p.G219G	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	602						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGACCTGGGGGATGGCTACA	0.667																																					p.G3059G		Atlas-SNP	.											.	IGFN1	220	.	0			c.G9177T						.						45.0	39.0	41.0					1																	201184848		2203	4300	6503	SO:0001819	synonymous_variant	91156	exon15			CCTGGGGGATGGC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9177G>T	chr1.hg19:g.201184848G>T		193.0	0.0		213.0	37.0	NM_001164586	F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	hg19	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	G	5.843	0.339727	0.11069	.	.	ENSG00000163395	ENST00000412892	.	.	.	4.83	-4.97	0.03029	.	0.399254	0.23409	N	0.048491	.	.	.	.	.	.	0.20403	N	0.99991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5982	0.08014	0.5788:0.1154:0.1903:0.1155	.	.	.	.	X	477	.	.	G	+	1	0	IGFN1	199451471	0.228000	0.23718	0.191000	0.23289	0.012000	0.07955	-0.560000	0.05964	-0.773000	0.04596	-0.258000	0.10820	GGA	.	.		0.667	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275	
RBBP5	5929	hgsc.bcm.edu	37	1	205065957	205065957	+	Missense_Mutation	SNP	C	C	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr1:205065957C>T	ENST00000264515.6	-	12	1390	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S	RBBP5_ENST00000367164.1_Missense_Mutation_p.G417S	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	417					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			GGTGGGGGGCCGTAAGGATTT	0.502																																					p.G417S		Atlas-SNP	.											.	RBBP5	45	.	0			c.G1249A						.						115.0	123.0	120.0					1																	205065957		2203	4300	6503	SO:0001583	missense	5929	exon12			GGGGGCCGTAAGG	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.1249G>A	chr1.hg19:g.205065957C>T	ENSP00000264515:p.Gly417Ser	111.0	0.0		124.0	22.0	NM_005057	A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	hg19	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649927	0.67472	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.59364	0.27;0.29	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	L	0.54323	1.7	0.80722	D	1	P;P;B;P	0.41313	0.714;0.745;0.281;0.591	B;B;B;B	0.30646	0.118;0.098;0.071;0.055	T	0.50206	-0.8855	10	0.20046	T	0.44	.	19.5705	0.95413	0.0:1.0:0.0:0.0	.	290;452;417;417	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	S	417	ENSP00000264515:G417S;ENSP00000356132:G417S	ENSP00000264515:G417S	G	-	1	0	RBBP5	203332580	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.487000	0.81328	2.722000	0.93159	0.650000	0.86243	GGC	.	.		0.502	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057	
HHAT	55733	hgsc.bcm.edu	37	1	210847644	210847644	+	Missense_Mutation	SNP	A	A	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr1:210847644A>T	ENST00000367010.1	+	12	1632	c.1405A>T	c.(1405-1407)Acc>Tcc	p.T469S	HHAT_ENST00000261458.3_Missense_Mutation_p.T469S|HHAT_ENST00000545781.1_Missense_Mutation_p.T406S|HHAT_ENST00000413764.2_Missense_Mutation_p.T469S|HHAT_ENST00000537898.1_Missense_Mutation_p.T404S|HHAT_ENST00000367009.1_Missense_Mutation_p.T159S|HHAT_ENST00000541565.1_Missense_Mutation_p.T332S|HHAT_ENST00000545154.1_Missense_Mutation_p.T470S|HHAT_ENST00000308852.6_Missense_Mutation_p.T424S	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	469					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GCCTTGGGTGACCCTCTCTGT	0.592																																					p.T470S		Atlas-SNP	.											.	HHAT	66	.	0			c.A1408T						.						144.0	117.0	126.0					1																	210847644		2203	4300	6503	SO:0001583	missense	55733	exon11			TGGGTGACCCTCT	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1405A>T	chr1.hg19:g.210847644A>T	ENSP00000355977:p.Thr469Ser	92.0	0.0		107.0	20.0	NM_001170587	B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	hg19	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.427176	0.43122	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T	0.44881	2.19;0.91;2.16;2.22;2.18;2.19;2.19;2.19;0.92	5.51	5.51	0.81932	.	.	.	.	.	T	0.32793	0.0841	L	0.39898	1.24	0.30129	N	0.804963	P;P;P;B;P	0.42296	0.666;0.775;0.688;0.172;0.518	B;B;B;B;B	0.36464	0.112;0.225;0.095;0.039;0.079	T	0.21793	-1.0235	9	0.21540	T	0.41	.	13.2915	0.60274	1.0:0.0:0.0:0.0	.	424;470;332;404;469	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	S	469;332;470;404;406;469;424;469;159	ENSP00000416845:T469S;ENSP00000444995:T332S;ENSP00000438468:T470S;ENSP00000442625:T404S;ENSP00000439229:T406S;ENSP00000261458:T469S;ENSP00000308628:T424S;ENSP00000355977:T469S;ENSP00000355976:T159S	ENSP00000261458:T469S	T	+	1	0	HHAT	208914267	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.634000	0.61325	2.210000	0.71456	0.533000	0.62120	ACC	.	.		0.592	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194	
CHRM3	1131	hgsc.bcm.edu	37	1	240071769	240071769	+	Missense_Mutation	SNP	A	A	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr1:240071769A>G	ENST00000255380.4	+	5	1797	c.1018A>G	c.(1018-1020)Aat>Gat	p.N340D		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	340					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TTGGAACAACAATGATGCTGC	0.577																																					p.N340D		Atlas-SNP	.											.	CHRM3	118	.	0			c.A1018G						.						48.0	41.0	44.0					1																	240071769		2203	4299	6502	SO:0001583	missense	1131	exon5			AACAACAATGATG	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1018A>G	chr1.hg19:g.240071769A>G	ENSP00000255380:p.Asn340Asp	167.0	0.0		185.0	26.0	NM_000740	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	hg19	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660706	0.29515	.	.	ENSG00000133019	ENST00000255380	T	0.60424	0.19	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.106979	0.64402	D	0.000013	T	0.52837	0.1759	L	0.49126	1.545	0.58432	D	0.999999	B	0.26602	0.154	B	0.29176	0.099	T	0.49051	-0.8979	10	0.13108	T	0.6	-26.3872	16.4473	0.83942	1.0:0.0:0.0:0.0	.	340	P20309	ACM3_HUMAN	D	340	ENSP00000255380:N340D	ENSP00000255380:N340D	N	+	1	0	CHRM3	238138392	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	7.576000	0.82467	2.281000	0.76405	0.533000	0.62120	AAT	.	.		0.577	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740	
ZBTB18	10472	hgsc.bcm.edu	37	1	244217640	244217640	+	Missense_Mutation	SNP	G	G	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr1:244217640G>T	ENST00000358704.4	+	2	713	c.564G>T	c.(562-564)gaG>gaT	p.E188D		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	179				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368). {ECO:0000305}.	cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGGCGGCCGAGCCTGGGAACA	0.562																																					p.E188D		Atlas-SNP	.											.	.	.	.	0			c.G564T						.						50.0	56.0	54.0					1																	244217640		2203	4300	6503	SO:0001583	missense	10472	exon2			GGCCGAGCCTGGG	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.564G>T	chr1.hg19:g.244217640G>T	ENSP00000351539:p.Glu188Asp	182.0	0.0		224.0	42.0	NM_205768	A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	hg19	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560715	0.27827	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.12039	2.72	5.28	5.28	0.74379	.	0.050245	0.85682	D	0.000000	T	0.20981	0.0505	L	0.27053	0.805	0.58432	D	0.999994	P;P;D	0.55605	0.953;0.953;0.972	D;D;D	0.70935	0.935;0.935;0.971	T	0.04294	-1.0962	10	0.16420	T	0.52	.	12.2886	0.54805	0.0778:0.0:0.9222:0.0	.	188;179;188	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	D	188	ENSP00000351539:E188D	ENSP00000351539:E188D	E	+	3	2	ZNF238	242284263	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.786000	0.55431	2.475000	0.83589	0.650000	0.86243	GAG	.	.		0.562	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768	
NDUFAF7	55471	hgsc.bcm.edu	37	2	37474750	37474750	+	Missense_Mutation	SNP	T	T	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr2:37474750T>C	ENST00000002125.4	+	9	1128	c.1088T>C	c.(1087-1089)aTg>aCg	p.M363T	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.M265T	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	363					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										TTAAAAAATATGGGTATTGAT	0.343																																					p.M363T		Atlas-SNP	.											.	.	.	.	0			c.T1088C						.						64.0	66.0	65.0					2																	37474750		2203	4298	6501	SO:0001583	missense	55471	exon9			AAAATATGGGTAT		CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.1088T>C	chr2.hg19:g.37474750T>C	ENSP00000002125:p.Met363Thr	98.0	0.0		110.0	17.0	NM_144736	Q7Z399|Q9P1G3	Missense_Mutation	SNP	ENST00000002125.4	hg19	CCDS1788.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274872	0.80580	.	.	ENSG00000003509	ENST00000002125;ENST00000336237	T;T	0.77489	-1.1;-1.1	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.89382	0.6699	M	0.91818	3.245	0.80722	D	1	D;P;D;D	0.61080	0.97;0.884;0.959;0.989	P;P;P;P	0.61003	0.665;0.636;0.882;0.762	D	0.91558	0.5262	9	.	.	.	-32.4236	16.0663	0.80878	0.0:0.0:0.0:1.0	.	336;292;265;363	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	T	363;265	ENSP00000002125:M363T;ENSP00000337431:M265T	.	M	+	2	0	C2orf56	37328254	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.374000	0.79633	2.196000	0.70406	0.533000	0.62120	ATG	.	.		0.343	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736	
SOCS5	9655	hgsc.bcm.edu	37	2	46986955	46986955	+	Missense_Mutation	SNP	G	G	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr2:46986955G>A	ENST00000306503.5	+	2	1458	c.1286G>A	c.(1285-1287)cGa>cAa	p.R429Q	SOCS5_ENST00000394861.2_Missense_Mutation_p.R429Q	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	429	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)	p.R429L(1)|p.R429Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CTGCATGCCCGAATTGAGCAG	0.498																																					p.R429Q		Atlas-SNP	.											SOCS5,NS,carcinoma,0,3	SOCS5	62	.	2	Substitution - Missense(2)	ovary(1)|lung(1)	c.G1286A						.						103.0	101.0	102.0					2																	46986955		2203	4300	6503	SO:0001583	missense	9655	exon2			ATGCCCGAATTGA	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1286G>A	chr2.hg19:g.46986955G>A	ENSP00000305133:p.Arg429Gln	245.0	0.0		216.0	25.0	NM_144949	Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	hg19	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.060002	0.55325	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	D;D	0.89270	-2.49;-2.49	5.43	3.64	0.41730	SH2 motif (4);	0.056973	0.64402	D	0.000001	D	0.93916	0.8053	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.93888	0.7177	10	0.87932	D	0	-11.2549	11.8239	0.52256	0.1425:0.0:0.8575:0.0	.	429	O75159	SOCS5_HUMAN	Q	429	ENSP00000305133:R429Q;ENSP00000378330:R429Q	ENSP00000305133:R429Q	R	+	2	0	SOCS5	46840459	1.000000	0.71417	0.715000	0.30552	0.898000	0.52572	9.657000	0.98554	0.867000	0.35654	-0.136000	0.14681	CGA	.	.		0.498	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2		
WDR92	116143	hgsc.bcm.edu	37	2	68365900	68365900	+	Missense_Mutation	SNP	G	G	A	rs35021866		TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr2:68365900G>A	ENST00000295121.6	-	5	723	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	WDR92_ENST00000406245.2_Missense_Mutation_p.R102W|WDR92_ENST00000409164.1_Missense_Mutation_p.R203W|WDR92_ENST00000492039.2_5'UTR|RP11-474G23.1_ENST00000406334.3_3'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	203					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						GTCTCCCACCGTAATGCCATA	0.378																																					p.R203W		Atlas-SNP	.											.	WDR92	21	.	0			c.C607T						.						232.0	233.0	233.0					2																	68365900		2203	4300	6503	SO:0001583	missense	116143	exon5			CCCACCGTAATGC	AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"""WD repeat domain containing"""	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.607C>T	chr2.hg19:g.68365900G>A	ENSP00000295121:p.Arg203Trp	119.0	0.0		117.0	9.0	NM_001256476	Q96CR6	Missense_Mutation	SNP	ENST00000295121.6	hg19	CCDS1884.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438457	0.83885	.	.	ENSG00000243667	ENST00000295121;ENST00000406245;ENST00000409164	T;T;T	0.66280	1.57;1.57;-0.2	6.03	4.02	0.46733	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.53938	D	0.000054	T	0.78767	0.4335	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	P	0.55965	0.788	D	0.84540	0.0638	10	0.59425	D	0.04	.	15.69	0.77442	0.0:0.0:0.6563:0.3437	rs35021866	203	Q96MX6	WDR92_HUMAN	W	203;102;203	ENSP00000295121:R203W;ENSP00000384518:R102W;ENSP00000386746:R203W	ENSP00000295121:R203W	R	-	1	2	WDR92	68219404	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.722000	0.54948	1.514000	0.48869	0.655000	0.94253	CGG	.	G|0.983;A|0.017		0.378	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458	
ITPRIPL1	150771	hgsc.bcm.edu	37	2	96992598	96992598	+	Missense_Mutation	SNP	A	A	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr2:96992598A>G	ENST00000439118.2	+	3	480	c.229A>G	c.(229-231)Aca>Gca	p.T77A	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.T69A|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.T69A|ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.T85A	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	77						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T85P(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAACTTCTGGACAGGAGACAC	0.582																																					p.T85A		Atlas-SNP	.											ITPRIPL1,NS,lymphoid_neoplasm,0,2	ITPRIPL1	58	.	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.A253G						.						96.0	101.0	99.0					2																	96992598		2203	4300	6503	SO:0001583	missense	150771	exon1			TTCTGGACAGGAG		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.229A>G	chr2.hg19:g.96992598A>G	ENSP00000389308:p.Thr77Ala	130.0	0.0		138.0	18.0	NM_178495	F5H1L8|Q8NE61	Missense_Mutation	SNP	ENST00000439118.2	hg19	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	A	0.421	-0.908184	0.02434	.	.	ENSG00000198885	ENST00000420176;ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887	T;T;T;T	0.17054	2.32;2.31;2.3;2.32	4.42	3.23	0.37069	.	0.466412	0.16056	N	0.231718	T	0.07098	0.0180	N	0.08118	0	0.20403	N	0.999901	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.40098	-0.9581	10	0.07813	T	0.8	-8.7959	7.9578	0.30053	0.7913:0.2087:0.0:0.0	.	85;77	Q6GPH6-2;Q6GPH6	.;IPIL1_HUMAN	A	69;69;77;85;69	ENSP00000439566:T69A;ENSP00000389308:T77A;ENSP00000355121:T85A;ENSP00000438212:T69A	ENSP00000355121:T85A	T	+	1	0	ITPRIPL1	96356325	0.987000	0.35691	1.000000	0.80357	0.713000	0.41058	0.548000	0.23314	0.817000	0.34445	0.533000	0.62120	ACA	.	.		0.582	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495	
DDX18	8886	hgsc.bcm.edu	37	2	118575029	118575029	+	Missense_Mutation	SNP	A	A	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr2:118575029A>G	ENST00000263239.2	+	2	223	c.95A>G	c.(94-96)aAt>aGt	p.N32S	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	32					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGGGCCTCAAATCTGACCCTA	0.373																																					p.N32S		Atlas-SNP	.											.	DDX18	79	.	0			c.A95G						.						34.0	38.0	36.0					2																	118575029		2199	4296	6495	SO:0001583	missense	8886	exon2			CCTCAAATCTGAC	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.95A>G	chr2.hg19:g.118575029A>G	ENSP00000263239:p.Asn32Ser	26.0	0.0		23.0	4.0	NM_006773	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	hg19	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	A	0.084	-1.178179	0.01633	.	.	ENSG00000088205	ENST00000263239	T	0.01887	4.58	3.34	0.953	0.19590	.	2.062890	0.01808	N	0.033274	T	0.02230	0.0069	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47898	-0.9081	10	0.09338	T	0.73	-0.8748	3.5617	0.07885	0.6196:0.2523:0.1281:0.0	.	32	Q9NVP1	DDX18_HUMAN	S	32	ENSP00000263239:N32S	ENSP00000263239:N32S	N	+	2	0	DDX18	118291499	0.000000	0.05858	0.285000	0.24819	0.075000	0.17131	-0.083000	0.11286	0.203000	0.20529	0.533000	0.62120	AAT	.	.		0.373	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773	
TTN	7273	hgsc.bcm.edu	37	2	179438598	179438598	+	Silent	SNP	C	C	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr2:179438598C>T	ENST00000591111.1	-	276	67562	c.67338G>A	c.(67336-67338)ctG>ctA	p.L22446L	TTN_ENST00000342175.6_Silent_p.L15214L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.L24087L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.L15022L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.L21519L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L15147L			Q8WZ42	TITIN_HUMAN	titin	22446	Ig-like 116.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGTTTACCAGATTAGTAG	0.418																																					p.L24087L		Atlas-SNP	.											.	TTN	18412	.	0			c.G72261A						.						89.0	83.0	85.0					2																	179438598		1855	4093	5948	SO:0001819	synonymous_variant	7273	exon326			GTTTACCAGATTA	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67338G>A	chr2.hg19:g.179438598C>T		123.0	0.0		127.0	14.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	hg19																																																																																				.	.		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
PSMD1	5707	hgsc.bcm.edu	37	2	231927267	231927267	+	Missense_Mutation	SNP	C	C	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr2:231927267C>T	ENST00000308696.6	+	4	344	c.182C>T	c.(181-183)gCc>gTc	p.A61V	PSMD1_ENST00000373635.4_Missense_Mutation_p.A61V|PSMD1_ENST00000409643.1_Missense_Mutation_p.A61V	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	61					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CAGTTTGCAGCCTTAGTGGCA	0.423																																					p.A61V		Atlas-SNP	.											.	PSMD1	77	.	0			c.C182T						.						93.0	98.0	96.0					2																	231927267		2203	4300	6503	SO:0001583	missense	5707	exon4			TTGCAGCCTTAGT	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.182C>T	chr2.hg19:g.231927267C>T	ENSP00000309474:p.Ala61Val	48.0	0.0		53.0	6.0	NM_002807	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	hg19	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	C	36	5.710218	0.96821	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643	T;T;T	0.32023	1.47;1.47;1.47	6.08	6.08	0.98989	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69296	0.3095	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.983	T	0.76501	-0.2936	10	0.72032	D	0.01	-3.0784	20.6634	0.99662	0.0:1.0:0.0:0.0	.	61;61	Q99460;Q99460-2	PSMD1_HUMAN;.	V	61	ENSP00000309474:A61V;ENSP00000362738:A61V;ENSP00000386932:A61V	ENSP00000309474:A61V	A	+	2	0	PSMD1	231635511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	GCC	.	.		0.423	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2		
HACL1	26061	hgsc.bcm.edu	37	3	15613198	15613198	+	Nonsense_Mutation	SNP	T	T	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr3:15613198T>A	ENST00000321169.5	-	12	1439	c.1072A>T	c.(1072-1074)Aag>Tag	p.K358*	HACL1_ENST00000457447.2_Intron|HACL1_ENST00000435217.2_Nonsense_Mutation_p.K117*|HACL1_ENST00000451445.2_Nonsense_Mutation_p.K276*|HACL1_ENST00000456194.2_Nonsense_Mutation_p.K331*	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	358					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TCATTGCTCTTCATTTTTTCT	0.408																																					p.K358X		Atlas-SNP	.											.	HACL1	33	.	0			c.A1072T						.						238.0	206.0	217.0					3																	15613198		2203	4300	6503	SO:0001587	stop_gained	26061	exon12			TGCTCTTCATTTT	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.1072A>T	chr3.hg19:g.15613198T>A	ENSP00000323811:p.Lys358*	62.0	0.0		47.0	7.0	NM_012260	B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Nonsense_Mutation	SNP	ENST00000321169.5	hg19	CCDS2627.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.355688	0.41700	.	.	ENSG00000131373	ENST00000321169;ENST00000435217;ENST00000451445;ENST00000456194	.	.	.	5.08	-3.68	0.04463	.	1.952780	0.02237	N	0.065427	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	8.2332	0.31610	0.0:0.3787:0.155:0.4663	.	.	.	.	X	358;117;276;331	.	ENSP00000323811:K358X	K	-	1	0	HACL1	15588202	0.368000	0.25031	0.251000	0.24312	0.096000	0.18686	0.694000	0.25512	-0.858000	0.04110	-0.924000	0.02725	AAG	.	.		0.408	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260	
TBC1D5	9779	hgsc.bcm.edu	37	3	17349528	17349528	+	Missense_Mutation	SNP	A	A	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr3:17349528A>G	ENST00000253692.7	-	14	2758	c.1094T>C	c.(1093-1095)gTa>gCa	p.V365A	TBC1D5_ENST00000429924.2_Missense_Mutation_p.V317A|TBC1D5_ENST00000446818.2_Missense_Mutation_p.V365A|TBC1D5_ENST00000429383.4_Missense_Mutation_p.V365A|TBC1D5_ENST00000414318.2_5'UTR	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	365						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GATATAATCTACTAAACCCAG	0.463																																					p.V365A		Atlas-SNP	.											.	TBC1D5	69	.	0			c.T1094C						.						81.0	78.0	79.0					3																	17349528		2203	4300	6503	SO:0001583	missense	9779	exon14			TAATCTACTAAAC	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1094T>C	chr3.hg19:g.17349528A>G	ENSP00000253692:p.Val365Ala	224.0	0.0		190.0	38.0	NM_014744	A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	hg19	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417639	0.62622	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.55	5.55	0.83447	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	L	0.41710	1.295	0.80722	D	1	B;P;P	0.51240	0.372;0.943;0.94	P;P;P	0.62014	0.74;0.854;0.897	T	0.00415	-1.1753	10	0.66056	D	0.02	-17.9645	15.6976	0.77512	1.0:0.0:0.0:0.0	.	317;365;365	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	A	365;365;365;317	ENSP00000253692:V365A;ENSP00000398127:V365A;ENSP00000402935:V365A;ENSP00000411925:V317A	ENSP00000253692:V365A	V	-	2	0	TBC1D5	17324532	1.000000	0.71417	0.113000	0.21522	0.443000	0.32047	9.173000	0.94815	2.115000	0.64714	0.477000	0.44152	GTA	.	.		0.463	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744	
ZNF445	353274	hgsc.bcm.edu	37	3	44492403	44492403	+	Missense_Mutation	SNP	C	C	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr3:44492403C>T	ENST00000396077.2	-	5	997	c.650G>A	c.(649-651)gGa>gAa	p.G217E	ZNF445_ENST00000425708.2_Missense_Mutation_p.G217E	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	217					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TACCTGGTCTCCCGGGCACCC	0.592																																					p.G217E		Atlas-SNP	.											.	ZNF445	91	.	0			c.G650A						.						87.0	77.0	81.0					3																	44492403		2203	4300	6503	SO:0001583	missense	353274	exon5			TGGTCTCCCGGGC	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.650G>A	chr3.hg19:g.44492403C>T	ENSP00000379387:p.Gly217Glu	110.0	0.0		125.0	9.0	NM_181489	Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	hg19	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847418	0.32606	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674;ENST00000430301	T;T	0.05319	3.46;3.46	4.34	0.507	0.16967	.	0.333064	0.21908	N	0.067355	T	0.03220	0.0094	N	0.24115	0.695	0.09310	N	1	B;B	0.21225	0.053;0.053	B;B	0.18263	0.021;0.021	T	0.47169	-0.9138	10	0.02654	T	1	.	7.7594	0.28944	0.0:0.6148:0.0:0.3852	.	217;217	B7ZKX2;P59923	.;ZN445_HUMAN	E	217;217;210;215	ENSP00000413073:G217E;ENSP00000379387:G217E	ENSP00000342436:G210E	G	-	2	0	ZNF445	44467407	0.000000	0.05858	0.002000	0.10522	0.270000	0.26580	-0.357000	0.07651	0.075000	0.16796	0.491000	0.48974	GGA	.	.		0.592	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489	
DPPA2	151871	hgsc.bcm.edu	37	3	109028174	109028174	+	Missense_Mutation	SNP	T	T	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr3:109028174T>C	ENST00000478945.1	-	4	431	c.185A>G	c.(184-186)cAt>cGt	p.H62R		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	62					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGAAGTAGATGACCTAAGAC	0.398																																					p.H62R		Atlas-SNP	.											.	DPPA2	52	.	0			c.A185G						.						94.0	92.0	93.0					3																	109028174		2203	4300	6503	SO:0001583	missense	151871	exon4			AGTAGATGACCTA	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.185A>G	chr3.hg19:g.109028174T>C	ENSP00000417710:p.His62Arg	73.0	0.0		111.0	18.0	NM_138815	Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	hg19	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	T	5.899	0.349915	0.11182	.	.	ENSG00000163530	ENST00000478945	T	0.47528	0.84	4.76	-6.46	0.01908	.	2.299430	0.01348	N	0.011813	T	0.24661	0.0598	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09271	-1.0682	10	0.15499	T	0.54	1.0161	0.4091	0.00438	0.2548:0.2646:0.2591:0.2215	.	62	Q7Z7J5	DPPA2_HUMAN	R	62	ENSP00000417710:H62R	ENSP00000417710:H62R	H	-	2	0	DPPA2	110510864	0.000000	0.05858	0.000000	0.03702	0.349000	0.29174	-0.479000	0.06567	-0.844000	0.04184	0.459000	0.35465	CAT	.	.		0.398	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815	
ILDR1	286676	hgsc.bcm.edu	37	3	121712594	121712594	+	Silent	SNP	T	T	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr3:121712594T>A	ENST00000344209.5	-	7	1128	c.1002A>T	c.(1000-1002)ccA>ccT	p.P334P	ILDR1_ENST00000393631.1_Silent_p.P245P|ILDR1_ENST00000273691.3_Silent_p.P290P|ILDR1_ENST00000462014.1_Silent_p.P302P|ILDR1_ENST00000460554.1_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	334					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CTCTGATCAGTGGGGGCAGGT	0.612																																					p.P334P		Atlas-SNP	.											.	ILDR1	120	.	0			c.A1002T						.						72.0	72.0	72.0					3																	121712594		2203	4300	6503	SO:0001819	synonymous_variant	286676	exon7			GATCAGTGGGGGC	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.1002A>T	chr3.hg19:g.121712594T>A		185.0	0.0		201.0	21.0	NM_001199799	Q6ZP61|Q7Z578	Silent	SNP	ENST00000344209.5	hg19	CCDS56271.1																																																																																			.	.		0.612	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924	
ACAD11	84129	hgsc.bcm.edu	37	3	132297694	132297694	+	Missense_Mutation	SNP	T	T	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr3:132297694T>C	ENST00000264990.6	-	15	2691	c.1720A>G	c.(1720-1722)Atg>Gtg	p.M574V	ACAD11_ENST00000545291.1_Missense_Mutation_p.M99V|ACAD11_ENST00000355458.3_Intron	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	574					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GGTGTGTTCATGGGAACAAGA	0.348																																					p.M574V		Atlas-SNP	.											.	ACAD11	78	.	0			c.A1720G						.						156.0	157.0	157.0					3																	132297694		2203	4300	6503	SO:0001583	missense	84129	exon15			TGTTCATGGGAAC	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1720A>G	chr3.hg19:g.132297694T>C	ENSP00000264990:p.Met574Val	80.0	0.0		67.0	10.0	NM_032169	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	hg19	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.141987	0.37825	.	.	ENSG00000240303	ENST00000264990;ENST00000545291	D;D	0.98901	-5.22;-5.22	5.56	-0.072	0.13741	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	.	.	.	.	D	0.95875	0.8657	L	0.58428	1.81	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	D	0.89750	0.3939	9	0.35671	T	0.21	.	2.2763	0.04103	0.1256:0.1452:0.1303:0.5989	.	574	Q709F0	ACD11_HUMAN	V	574;99	ENSP00000264990:M574V;ENSP00000446263:M99V	ENSP00000264990:M574V	M	-	1	0	ACAD11	133780384	0.012000	0.17670	0.045000	0.18777	0.969000	0.65631	0.027000	0.13621	0.113000	0.18004	0.482000	0.46254	ATG	.	.		0.348	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169	
A4GNT	51146	hgsc.bcm.edu	37	3	137843669	137843669	+	Missense_Mutation	SNP	G	G	A	rs376190351		TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr3:137843669G>A	ENST00000236709.3	-	3	661	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	154					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)	p.R154S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						ATGGCCAGGCGGGATGCATCC	0.572																																					p.R154C		Atlas-SNP	.											A4GNT,colon,carcinoma,0,1	A4GNT	42	.	1	Substitution - Missense(1)	large_intestine(1)	c.C460T						.						78.0	74.0	75.0					3																	137843669		2203	4300	6503	SO:0001583	missense	51146	exon3			CCAGGCGGGATGC	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.460C>T	chr3.hg19:g.137843669G>A	ENSP00000236709:p.Arg154Cys	138.0	0.0		137.0	21.0	NM_016161	Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	hg19	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470071	0.63625	.	.	ENSG00000118017	ENST00000236709	D	0.97888	-4.59	5.27	4.31	0.51392	Glycosyltransferase, DXD sugar-binding motif (1);	0.000000	0.64402	D	0.000002	D	0.98937	0.9639	H	0.95437	3.67	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.98869	1.0765	10	0.87932	D	0	-6.1903	10.6822	0.45821	0.0:0.0:0.5672:0.4328	.	154	Q9UNA3	A4GCT_HUMAN	C	154	ENSP00000236709:R154C	ENSP00000236709:R154C	R	-	1	0	A4GNT	139326359	1.000000	0.71417	0.975000	0.42487	0.556000	0.35491	2.715000	0.47210	2.458000	0.83093	0.563000	0.77884	CGC	.	.		0.572	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161	
ATP1B3	483	hgsc.bcm.edu	37	3	141632520	141632520	+	Missense_Mutation	SNP	C	C	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr3:141632520C>A	ENST00000286371.3	+	4	561	c.373C>A	c.(373-375)Ctc>Atc	p.L125I	ATP1B3_ENST00000462082.1_Intron|ATP1B3_ENST00000539728.1_Missense_Mutation_p.L111I	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	125					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	caveola (GO:0005901)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)			cervix(1)|endometrium(1)|lung(2)	4						ACAGAAGAACCTCACAGTCTG	0.363																																					p.L125I		Atlas-SNP	.											.	ATP1B3	17	.	0			c.C373A						.						146.0	140.0	142.0					3																	141632520		2203	4300	6503	SO:0001583	missense	483	exon4			AAGAACCTCACAG	BC011835	CCDS3121.1	3q23	2012-10-22			ENSG00000069849	ENSG00000069849		"""CD molecules"", ""ATPases / P-type"""	806	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-3"", ""sodium pump subunit beta-3"", ""sodium-potassium ATPase subunit beta 3 (non-catalytic)"""	601867				8798450, 9457675	Standard	NM_001679		Approved	FLJ29027, CD298	uc003eug.1	P54709	OTTHUMG00000159081	ENST00000286371.3:c.373C>A	chr3.hg19:g.141632520C>A	ENSP00000286371:p.Leu125Ile	102.0	0.0		116.0	18.0	NM_001679	B7Z1N7	Missense_Mutation	SNP	ENST00000286371.3	hg19	CCDS3121.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928682	0.34002	.	.	ENSG00000069849	ENST00000475483;ENST00000286371;ENST00000539728;ENST00000495216	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.45	2.33	0.28932	.	0.162128	0.52532	D	0.000076	T	0.31638	0.0803	L	0.37561	1.115	0.80722	D	1	D;P	0.55605	0.972;0.86	P;B	0.56563	0.801;0.406	T	0.03761	-1.1006	10	0.18276	T	0.48	-7.5263	8.4834	0.33057	0.2775:0.598:0.1245:0.0	.	111;125	D3DNF9;P54709	.;AT1B3_HUMAN	I	68;125;111;111	ENSP00000417522:L68I;ENSP00000286371:L125I;ENSP00000440307:L111I;ENSP00000419962:L111I	ENSP00000286371:L125I	L	+	1	0	ATP1B3	143115210	0.105000	0.21958	0.998000	0.56505	0.546000	0.35178	0.828000	0.27435	1.279000	0.44446	0.491000	0.48974	CTC	.	.		0.363	ATP1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353218.1	NM_001679	
PLSCR5	389158	hgsc.bcm.edu	37	3	146318107	146318107	+	Missense_Mutation	SNP	T	T	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr3:146318107T>A	ENST00000443512.1	-	2	1160	c.157A>T	c.(157-159)Agt>Tgt	p.S53C	PLSCR5_ENST00000492200.1_Missense_Mutation_p.S53C|PLSCR5_ENST00000482567.1_Intron	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	53										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						GGAGGGAGACTGACTGTTGGC	0.453																																					p.S53C		Atlas-SNP	.											.	PLSCR5	35	.	0			c.A157T						.						43.0	44.0	44.0					3																	146318107		1847	4087	5934	SO:0001583	missense	389158	exon2			GGAGACTGACTGT	AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.157A>T	chr3.hg19:g.146318107T>A	ENSP00000390111:p.Ser53Cys	44.0	0.0		46.0	9.0	NM_001085420	B2RXK5	Missense_Mutation	SNP	ENST00000443512.1	hg19	CCDS46931.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420521	0.62622	.	.	ENSG00000231213	ENST00000492200;ENST00000443512	T;T	0.24350	1.86;1.86	3.15	0.54	0.17163	.	.	.	.	.	T	0.25827	0.0629	L	0.39898	1.24	0.09310	N	1	B	0.32425	0.371	P	0.44597	0.454	T	0.41016	-0.9532	9	0.72032	D	0.01	-10.8872	3.7158	0.08437	0.2215:0.0:0.2294:0.549	.	53	A0PG75	PLS5_HUMAN	C	53	ENSP00000417184:S53C;ENSP00000390111:S53C	ENSP00000390111:S53C	S	-	1	0	PLSCR5	147800797	0.038000	0.19896	0.012000	0.15200	0.985000	0.73830	0.651000	0.24873	0.098000	0.17522	0.524000	0.50904	AGT	.	.		0.453	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355365.1	XM_371670	
ARHGEF26	26084	hgsc.bcm.edu	37	3	153840488	153840488	+	Missense_Mutation	SNP	G	G	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr3:153840488G>T	ENST00000356448.4	+	2	991	c.707G>T	c.(706-708)aGt>aTt	p.S236I	ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.S236I|ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.S236I	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	236					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GTGGTTTTGAGTACAAACAGC	0.502																																					p.S236I	GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	Atlas-SNP	.											.	ARHGEF26	158	.	0			c.G707T						.						15.0	18.0	17.0					3																	153840488		1852	4096	5948	SO:0001583	missense	26084	exon2			TTTTGAGTACAAA	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.707G>T	chr3.hg19:g.153840488G>T	ENSP00000348828:p.Ser236Ile	79.0	0.0		79.0	4.0	NM_001251962	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	hg19	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751204	0.89753	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.78481	-1.18;-1.18;0.1	5.04	5.04	0.67666	.	0.085942	0.85682	D	0.000000	D	0.82761	0.5107	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.85369	0.1112	10	0.87932	D	0	-13.0269	17.981	0.89141	0.0:0.0:1.0:0.0	.	236;236	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	I	236	ENSP00000348828:S236I;ENSP00000423418:S236I;ENSP00000423295:S236I	ENSP00000348828:S236I	S	+	2	0	ARHGEF26	155323178	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	8.417000	0.90247	2.316000	0.78162	0.655000	0.94253	AGT	.	.		0.502	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595	
VEPH1	79674	hgsc.bcm.edu	37	3	157188168	157188169	+	Missense_Mutation	DNP	AG	AG	TT	rs565482063		TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr3:157188168_157188169AG>TT	ENST00000362010.2	-	3	595_596	c.288_289CT>AA	c.(286-291)ccCTtt>ccAAtt	p.F97I	VEPH1_ENST00000537559.1_Missense_Mutation_p.F97I|VEPH1_ENST00000494677.1_Missense_Mutation_p.F97I|VEPH1_ENST00000468233.1_Missense_Mutation_p.F97I|VEPH1_ENST00000392832.2_Missense_Mutation_p.F97I|VEPH1_ENST00000392833.2_Missense_Mutation_p.F97I|VEPH1_ENST00000543418.1_Missense_Mutation_p.F97I	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	97						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCTTTCCCAAAGGGTCTCAGGT	0.455																																					p.F97I|p.P96P		Atlas-SNP	.											.	VEPH1	129	.	0			c.T289A|c.C288A						.																																			SO:0001583	missense	79674	exon3			TCCCAAAGGGTCT|CCCAAAGGGTCTC	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.288_289delinsTT	chr3.hg19:g.157188168_157188169delinsTT	ENSP00000354919:p.Phe97Ile	141.0|143.0	0.0		151.0	24.0|23.0	NM_001167911	D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation|Silent	SNP	ENST00000362010.2	hg19	CCDS3179.1																																																																																			.	.		0.455	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621	
HTT	3064	hgsc.bcm.edu	37	4	3179109	3179109	+	Missense_Mutation	SNP	G	G	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr4:3179109G>T	ENST00000355072.5	+	34	4603	c.4458G>T	c.(4456-4458)caG>caT	p.Q1486H		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1486					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAGTGGGCCAGTTCAGGTAAT	0.279																																					p.Q1486H		Atlas-SNP	.											.	HTT	221	.	0			c.G4458T						.						135.0	119.0	124.0					4																	3179109		1794	4065	5859	SO:0001583	missense	3064	exon34			GGGCCAGTTCAGG	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4458G>T	chr4.hg19:g.3179109G>T	ENSP00000347184:p.Gln1486His	58.0	0.0		55.0	10.0	NM_002111	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	hg19	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348668	0.61183	.	.	ENSG00000197386	ENST00000355072	T	0.05513	3.43	6.07	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.14657	0.0354	L	0.38531	1.155	0.58432	D	0.999994	D	0.69078	0.997	D	0.78314	0.991	T	0.11324	-1.0592	10	0.25751	T	0.34	.	12.1988	0.54313	0.1358:0.0:0.8642:0.0	.	1486	P42858	HD_HUMAN	H	1486	ENSP00000347184:Q1486H	ENSP00000347184:Q1486H	Q	+	3	2	HTT	3148907	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.843000	0.62838	1.578000	0.49821	0.655000	0.94253	CAG	.	.		0.279	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
RBPJ	3516	hgsc.bcm.edu	37	4	26426076	26426076	+	Missense_Mutation	SNP	G	G	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr4:26426076G>T	ENST00000361572.6	+	6	842	c.648G>T	c.(646-648)caG>caT	p.Q216H	RBPJ_ENST00000504907.1_Missense_Mutation_p.Q202H|RBPJ_ENST00000507561.1_Missense_Mutation_p.Q181H|RBPJ_ENST00000355476.3_Missense_Mutation_p.Q202H|RBPJ_ENST00000342295.1_Missense_Mutation_p.Q216H|RBPJ_ENST00000348160.4_Missense_Mutation_p.Q203H|RBPJ_ENST00000342320.4_Missense_Mutation_p.Q202H|RBPJ_ENST00000345843.3_Missense_Mutation_p.Q201H			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	216					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GTTCACAGCAGTGGGGAGCCT	0.368																																					p.Q216H		Atlas-SNP	.											.	RBPJ	78	.	0			c.G648T						.						124.0	128.0	127.0					4																	26426076		2203	4300	6503	SO:0001583	missense	3516	exon7			ACAGCAGTGGGGA	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.648G>T	chr4.hg19:g.26426076G>T	ENSP00000354528:p.Gln216His	65.0	0.0		83.0	7.0	NM_005349	B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	hg19	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283992	0.80803	.	.	ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000515573;ENST00000504907;ENST00000342320	T;T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.58	3.87	0.44632	Beta-trefoil (2);	0.000000	0.85682	D	0.000000	T	0.48409	0.1498	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D;D	0.64830	0.993;0.993;0.994;0.992;0.992;0.994	P;P;P;P;P;P	0.62435	0.869;0.902;0.84;0.753;0.753;0.902	T	0.41610	-0.9499	9	.	.	.	-8.8232	12.2522	0.54605	0.1383:0.0:0.8617:0.0	.	216;202;203;202;201;216	B7Z8D8;D6R927;B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;.;.;SUH_HUMAN	H	201;216;216;203;202;181;181;202;202	ENSP00000305815:Q201H;ENSP00000345206:Q216H;ENSP00000354528:Q216H;ENSP00000339699:Q203H;ENSP00000347659:Q202H;ENSP00000423907:Q181H;ENSP00000423406:Q181H;ENSP00000423703:Q202H;ENSP00000340124:Q202H	.	Q	+	3	2	RBPJ	26035174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.769000	0.55303	0.725000	0.32318	0.650000	0.86243	CAG	.	.		0.368	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874	
AASDH	132949	hgsc.bcm.edu	37	4	57216008	57216008	+	Missense_Mutation	SNP	T	T	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr4:57216008T>C	ENST00000205214.6	-	11	2089	c.1909A>G	c.(1909-1911)Aca>Gca	p.T637A	AASDH_ENST00000502617.1_Missense_Mutation_p.T637A|AASDH_ENST00000434343.2_Missense_Mutation_p.T152A|AASDH_ENST00000513376.1_Missense_Mutation_p.T537A|AASDH_ENST00000602986.1_Missense_Mutation_p.T484A|AASDH_ENST00000451613.1_Missense_Mutation_p.T637A	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	637					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTCCTGAATGTCACATCTTCA	0.403																																					p.T637A		Atlas-SNP	.											.	AASDH	101	.	0			c.A1909G						.						170.0	147.0	155.0					4																	57216008		2203	4300	6503	SO:0001583	missense	132949	exon11			TGAATGTCACATC	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1909A>G	chr4.hg19:g.57216008T>C	ENSP00000205214:p.Thr637Ala	153.0	0.0		137.0	19.0	NM_181806	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	hg19	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	T	0.111	-1.138286	0.01742	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	6.06	-2.92	0.05615	.	1.387120	0.03965	N	0.290755	T	0.06554	0.0168	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.001;0.0	T	0.39396	-0.9616	10	0.09084	T	0.74	-0.281	4.6553	0.12615	0.0723:0.3437:0.2609:0.3232	.	484;637;637;637	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	A	637;537;152;637;484;637	ENSP00000205214:T637A;ENSP00000423760:T537A;ENSP00000392158:T152A;ENSP00000409656:T637A;ENSP00000421171:T637A	ENSP00000205214:T637A	T	-	1	0	AASDH	56910765	0.000000	0.05858	0.000000	0.03702	0.292000	0.27327	-0.549000	0.06041	-0.512000	0.06505	0.533000	0.62120	ACA	.	.		0.403	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806	
MUC7	4589	hgsc.bcm.edu	37	4	71346647	71346647	+	Silent	SNP	C	C	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr4:71346647C>T	ENST00000304887.5	+	3	376	c.186C>T	c.(184-186)tcC>tcT	p.S62S	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Silent_p.S62S|MUC7_ENST00000456088.1_Silent_p.S62S	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	62					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TTAGAAAGTCCTATAAATGTC	0.453																																					p.S62S		Atlas-SNP	.											MUC7,colon,carcinoma,0,1	MUC7	91	.	0			c.C186T						.						172.0	168.0	169.0					4																	71346647		2203	4300	6503	SO:0001819	synonymous_variant	4589	exon4			AAAGTCCTATAAA	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.186C>T	chr4.hg19:g.71346647C>T		161.0	0.0		161.0	30.0	NM_001145007	Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	hg19	CCDS3541.1																																																																																			.	.		0.453	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291	
GUCY1B3	2983	hgsc.bcm.edu	37	4	156696144	156696144	+	Missense_Mutation	SNP	A	A	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr4:156696144A>T	ENST00000264424.8	+	3	184	c.102A>T	c.(100-102)gaA>gaT	p.E34D	GUCY1B3_ENST00000513437.1_De_novo_Start_OutOfFrame|GUCY1B3_ENST00000507146.1_De_novo_Start_OutOfFrame|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E34D|GUCY1B3_ENST00000505154.1_De_novo_Start_OutOfFrame|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E14D|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E34D	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	34					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TAGATGAAGAAGGACAGTTTC	0.328																																					p.E34D		Atlas-SNP	.											.	GUCY1B3	65	.	0			c.A102T						.						124.0	122.0	123.0					4																	156696144		1834	4079	5913	SO:0001583	missense	2983	exon3			TGAAGAAGGACAG	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.102A>T	chr4.hg19:g.156696144A>T	ENSP00000264424:p.Glu34Asp	41.0	0.0		30.0	4.0	NM_000857	B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	hg19	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.373174	0.42105	.	.	ENSG00000061918	ENST00000502959;ENST00000505764;ENST00000264424;ENST00000503520	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.3	4.12	0.48240	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	L	0.46885	1.475	0.80722	D	1	B;B;B;B	0.23316	0.083;0.03;0.043;0.019	B;B;B;B	0.27796	0.083;0.058;0.02;0.022	T	0.07271	-1.0781	10	0.15952	T	0.53	.	8.6366	0.33953	0.7852:0.0:0.2148:0.0	.	14;34;34;34	B7Z426;E9PCN2;Q02153-2;Q02153	.;.;.;GCYB1_HUMAN	D	34;14;34;34	ENSP00000426786:E34D;ENSP00000426319:E14D;ENSP00000264424:E34D;ENSP00000420842:E34D	ENSP00000264424:E34D	E	+	3	2	GUCY1B3	156915594	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.838000	0.48199	0.960000	0.38005	-0.281000	0.10026	GAA	.	.		0.328	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		
GUCY1B3	2983	hgsc.bcm.edu	37	4	156726268	156726268	+	Missense_Mutation	SNP	C	C	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr4:156726268C>A	ENST00000264424.8	+	13	1805	c.1723C>A	c.(1723-1725)Cca>Aca	p.P575T	GUCY1B3_ENST00000513437.1_Missense_Mutation_p.P507T|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.P550T|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.P597T|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.P507T|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.P555T|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.P542T	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	575					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TCTTATGTCTCCAGAAAATTC	0.393																																					p.P575T		Atlas-SNP	.											.	GUCY1B3	65	.	0			c.C1723A						.						93.0	82.0	86.0					4																	156726268		1859	4095	5954	SO:0001583	missense	2983	exon13			ATGTCTCCAGAAA	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1723C>A	chr4.hg19:g.156726268C>A	ENSP00000264424:p.Pro575Thr	169.0	0.0		186.0	32.0	NM_000857	B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	hg19	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417114	0.42918	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.56	3.83	0.44106	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.173250	0.51477	D	0.000100	T	0.37433	0.1003	M	0.86178	2.8	0.45946	D	0.998779	B;B;B;B;B	0.34147	0.438;0.001;0.001;0.196;0.234	B;B;B;B;B	0.38020	0.263;0.011;0.007;0.089;0.19	T	0.22521	-1.0214	10	0.11794	T	0.64	.	11.5191	0.50541	0.0:0.8562:0.0:0.1438	.	555;597;550;542;575	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	T	507;597;555;550;575;542;507	ENSP00000427226:P507T;ENSP00000426786:P597T;ENSP00000426319:P555T;ENSP00000422313:P550T;ENSP00000264424:P575T;ENSP00000420842:P542T;ENSP00000425065:P507T	ENSP00000264424:P575T	P	+	1	0	GUCY1B3	156945718	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.238000	0.51352	1.355000	0.45865	-0.142000	0.14014	CCA	.	.		0.393	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		
SPOCK3	50859	hgsc.bcm.edu	37	4	168155168	168155168	+	Nonsense_Mutation	SNP	T	T	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr4:168155168T>A	ENST00000357154.3	-	2	294	c.157A>T	c.(157-159)Aag>Tag	p.K53*	SPOCK3_ENST00000421836.2_5'UTR|SPOCK3_ENST00000512681.1_Nonsense_Mutation_p.K53*|SPOCK3_ENST00000541637.1_Nonsense_Mutation_p.K53*|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000502330.1_Nonsense_Mutation_p.K53*|SPOCK3_ENST00000511269.1_Nonsense_Mutation_p.K53*|SPOCK3_ENST00000512648.1_Nonsense_Mutation_p.K53*|SPOCK3_ENST00000357545.4_Nonsense_Mutation_p.K53*|SPOCK3_ENST00000534949.1_Silent_p.T13T|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000506886.1_Nonsense_Mutation_p.K53*|SPOCK3_ENST00000510741.1_Nonsense_Mutation_p.K53*|SPOCK3_ENST00000511531.1_Nonsense_Mutation_p.K53*|SPOCK3_ENST00000504953.1_Nonsense_Mutation_p.K53*	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	53					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CCGACTTCCTTGTCATACTGA	0.647																																					p.K53X		Atlas-SNP	.											.	SPOCK3	90	.	0			c.A157T						.						67.0	70.0	69.0					4																	168155168		2203	4300	6503	SO:0001587	stop_gained	50859	exon2			CTTCCTTGTCATA	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.157A>T	chr4.hg19:g.168155168T>A	ENSP00000349677:p.Lys53*	141.0	0.0		141.0	27.0	NM_016950	B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Nonsense_Mutation	SNP	ENST00000357154.3	hg19	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.738454	0.89573	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000512681;ENST00000511269;ENST00000541637;ENST00000512648;ENST00000510403;ENST00000509854;ENST00000506697;ENST00000512042	.	.	.	3.97	1.39	0.22231	.	0.487152	0.17603	U	0.168354	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4908	6.3694	0.21473	0.0:0.0873:0.1587:0.754	.	.	.	.	X	53	.	ENSP00000349677:K53X	K	-	1	0	SPOCK3	168391743	1.000000	0.71417	0.997000	0.53966	0.001000	0.01503	2.194000	0.42668	0.075000	0.16796	-0.467000	0.05162	AAG	.	.		0.647	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1		
SLC9A3	6550	hgsc.bcm.edu	37	5	481703	481703	+	Silent	SNP	G	G	A	rs200474984		TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr5:481703G>A	ENST00000264938.3	-	9	1503	c.1494C>T	c.(1492-1494)atC>atT	p.I498I	CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.I489I	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	498					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AATTGTGCCCGATCTGTCCGG	0.582																																					p.I498I		Atlas-SNP	.											.	SLC9A3	89	.	0			c.C1494T						.	G		1,4405	2.1+/-5.4	0,1,2202	180.0	185.0	183.0		1494	-7.7	0.7	5		183	0,8600		0,0,4300	no	coding-synonymous	SLC9A3	NM_004174.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		498/835	481703	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6550	exon9			GTGCCCGATCTGT		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1494C>T	chr5.hg19:g.481703G>A		129.0	0.0		141.0	13.0	NM_004174	B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	hg19	CCDS3855.1																																																																																			.	G|0.999;A|0.001		0.582	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174	
RAI14	26064	hgsc.bcm.edu	37	5	34823722	34823722	+	Missense_Mutation	SNP	A	A	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr5:34823722A>C	ENST00000265109.3	+	15	2062	c.1775A>C	c.(1774-1776)aAg>aCg	p.K592T	RAI14_ENST00000512629.1_Missense_Mutation_p.K563T|RAI14_ENST00000515799.1_Missense_Mutation_p.K595T|RAI14_ENST00000503673.1_Missense_Mutation_p.K592T|RAI14_ENST00000428746.2_Missense_Mutation_p.K592T|RAI14_ENST00000506376.1_Missense_Mutation_p.K584T|RAI14_ENST00000397449.1_Missense_Mutation_p.K585T	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	592						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AATATGAATAAGGAGAAAGCA	0.368																																					p.K595T		Atlas-SNP	.											.	RAI14	100	.	0			c.A1784C						.						57.0	60.0	59.0					5																	34823722		2203	4300	6503	SO:0001583	missense	26064	exon17			TGAATAAGGAGAA	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1775A>C	chr5.hg19:g.34823722A>C	ENSP00000265109:p.Lys592Thr	121.0	0.0		151.0	30.0	NM_001145525	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	hg19	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.456469	0.63401	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.39229	1.11;1.09;1.11;1.11;1.1;1.15;1.14	5.42	5.42	0.78866	.	.	.	.	.	T	0.35913	0.0948	N	0.19112	0.55	0.40263	D	0.978206	P;P;P;P	0.44044	0.634;0.682;0.825;0.682	B;B;P;B	0.44477	0.234;0.205;0.451;0.205	T	0.37056	-0.9722	9	0.72032	D	0.01	-25.5718	15.4697	0.75432	1.0:0.0:0.0:0.0	.	584;563;595;592	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	T	592;563;592;592;595;584;585	ENSP00000265109:K592T;ENSP00000422377:K563T;ENSP00000388725:K592T;ENSP00000422942:K592T;ENSP00000427123:K595T;ENSP00000423854:K584T;ENSP00000380591:K585T	ENSP00000265109:K592T	K	+	2	0	RAI14	34859479	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.159000	0.64923	2.067000	0.61834	0.454000	0.30748	AAG	.	.		0.368	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
HTR1A	3350	hgsc.bcm.edu	37	5	63256701	63256701	+	Silent	SNP	C	C	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr5:63256701C>T	ENST00000323865.3	-	1	1079	c.846G>A	c.(844-846)agG>agA	p.R282R	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	282					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CGTCACCTTGCCTCACCGCGC	0.642																																					p.R282R		Atlas-SNP	.											.	HTR1A	128	.	0			c.G846A						.						47.0	43.0	44.0					5																	63256701		2203	4300	6503	SO:0001819	synonymous_variant	3350	exon1			ACCTTGCCTCACC	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.846G>A	chr5.hg19:g.63256701C>T		105.0	0.0		132.0	19.0	NM_000524	Q6LAE7	Silent	SNP	ENST00000323865.3	hg19	CCDS34168.1																																																																																			.	.		0.642	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524	
PAPD4	167153	hgsc.bcm.edu	37	5	78940987	78940987	+	Missense_Mutation	SNP	C	C	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr5:78940987C>T	ENST00000296783.3	+	9	1092	c.793C>T	c.(793-795)Cca>Tca	p.P265S	PAPD4_ENST00000453514.1_Missense_Mutation_p.P265S|PAPD4_ENST00000428308.2_Missense_Mutation_p.P265S|PAPD4_ENST00000423041.2_Missense_Mutation_p.P261S|PAPD4_ENST00000504233.1_Missense_Mutation_p.P265S			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	265					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AGCAAAAGTGCCAATTGTGAA	0.343																																					p.P265S		Atlas-SNP	.											.	PAPD4	51	.	0			c.C793T						.						98.0	100.0	99.0					5																	78940987		2203	4300	6503	SO:0001583	missense	167153	exon9			AAAGTGCCAATTG	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.793C>T	chr5.hg19:g.78940987C>T	ENSP00000296783:p.Pro265Ser	183.0	0.0		184.0	24.0	NM_173797	Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	hg19	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074093	0.94000	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.96540	0.8871	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.97219	0.9876	10	0.87932	D	0	-8.8984	19.8629	0.96790	0.0:1.0:0.0:0.0	.	265;261;265	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	S	265;261;265;265;265	ENSP00000397563:P265S;ENSP00000393412:P261S;ENSP00000421966:P265S;ENSP00000396861:P265S;ENSP00000296783:P265S	ENSP00000296783:P265S	P	+	1	0	PAPD4	78976743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.436000	0.80404	2.690000	0.91761	0.573000	0.79308	CCA	.	.		0.343	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797	
PCDHA2	56146	hgsc.bcm.edu	37	5	140175547	140175547	+	Missense_Mutation	SNP	A	A	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr5:140175547A>T	ENST00000526136.1	+	1	998	c.998A>T	c.(997-999)cAt>cTt	p.H333L	PCDHA2_ENST00000520672.2_Missense_Mutation_p.H333L|PCDHA2_ENST00000378132.1_Missense_Mutation_p.H333L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	333	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTCAGGACATTGTAAAATT	0.418																																					p.H333L		Atlas-SNP	.											.	PCDHA2	404	.	0			c.A998T						.						73.0	71.0	72.0					5																	140175547		2203	4300	6503	SO:0001583	missense	56146	exon1			CAGGACATTGTAA	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.998A>T	chr5.hg19:g.140175547A>T	ENSP00000431748:p.His333Leu	182.0	0.0		207.0	31.0	NM_031495	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	hg19	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	a	18.00	3.524978	0.64747	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.50277	0.75;0.75;0.75	3.92	3.92	0.45320	Cadherin (4);Cadherin-like (1);	0.000000	0.41294	U	0.000917	T	0.67192	0.2867	M	0.82056	2.57	0.32231	N	0.573901	D;D;D	0.65815	0.994;0.995;0.994	P;D;P	0.65987	0.9;0.94;0.9	T	0.77267	-0.2651	10	0.87932	D	0	.	13.2048	0.59788	1.0:0.0:0.0:0.0	.	333;333;333	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	L	333	ENSP00000430584:H333L;ENSP00000367372:H333L;ENSP00000431748:H333L	ENSP00000367372:H333L	H	+	2	0	PCDHA2	140155731	0.999000	0.42202	0.960000	0.40013	0.892000	0.51952	6.937000	0.75898	1.769000	0.52152	0.528000	0.53228	CAT	.	.		0.418	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
FAM196B	100131897	hgsc.bcm.edu	37	5	169309899	169309899	+	Missense_Mutation	SNP	T	T	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr5:169309899T>C	ENST00000377365.3	-	2	2385	c.1004A>G	c.(1003-1005)aAt>aGt	p.N335S	DOCK2_ENST00000256935.8_Intron|DOCK2_ENST00000520908.1_Intron|DOCK2_ENST00000523351.1_Intron|FAM196B_ENST00000523970.1_5'Flank|DOCK2_ENST00000540750.1_Intron	NM_001129891.1	NP_001123363.1	A6NMK8	F196B_HUMAN	family with sequence similarity 196, member B	335										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)	5						ATTCTGGTGATTGTTACTTGA	0.547																																					p.N335S		Atlas-SNP	.											.	FAM196B	28	.	0			c.A1004G						.						150.0	124.0	132.0					5																	169309899		692	1591	2283	SO:0001583	missense	100131897	exon2			TGGTGATTGTTAC		CCDS47336.1	5q35.1	2010-02-17	2009-09-11	2009-09-11	ENSG00000204767	ENSG00000204767			37271	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 57"""	C5orf57			Standard	NM_001129891		Approved		uc003mag.2	A6NMK8	OTTHUMG00000163083	ENST00000377365.3:c.1004A>G	chr5.hg19:g.169309899T>C	ENSP00000366582:p.Asn335Ser	146.0	0.0		165.0	23.0	NM_001129891		Missense_Mutation	SNP	ENST00000377365.3	hg19	CCDS47336.1	.	.	.	.	.	.	.	.	.	.	T	0.615	-0.823596	0.02755	.	.	ENSG00000204767	ENST00000377365	T	0.41400	1.0	5.09	-1.8	0.07907	.	0.802151	0.11480	N	0.559860	T	0.30355	0.0762	L	0.51422	1.61	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.38866	-0.9641	10	0.08381	T	0.77	3.6538	10.0525	0.42225	0.0:0.3832:0.0:0.6168	.	335	A6NMK8	F196B_HUMAN	S	335	ENSP00000366582:N335S	ENSP00000366582:N335S	N	-	2	0	FAM196B	169242477	0.006000	0.16342	0.004000	0.12327	0.181000	0.23173	-0.064000	0.11636	-0.519000	0.06444	-0.274000	0.10170	AAT	.	.		0.547	FAM196B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371629.1	NM_001129891	
TLX3	30012	hgsc.bcm.edu	37	5	170738472	170738472	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr5:170738472C>T	ENST00000296921.5	+	3	827	c.745C>T	c.(745-747)Caa>Taa	p.Q249*		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	249					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGACGCCTTCCAAAAGAGCCT	0.647			T	BCL11B	T-ALL																																p.Q249X	Esophageal Squamous(33;43 807 3116 3348 30094)	Atlas-SNP	.		Dom	yes		5	5q35.1	30012	"""T-cell leukemia, homeobox 3 (HOX11L2)"""		L	.	TLX3	23	.	0			c.C745T						.						60.0	53.0	56.0					5																	170738472		2203	4299	6502	SO:0001587	stop_gained	30012	exon3			GCCTTCCAAAAGA	AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"""Homeoboxes / ANTP class : NKL subclass"""	13532	protein-coding gene	gene with protein product		604640	"""homeo box 11-like 2"", ""T-cell leukemia, homeobox 3"""	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.745C>T	chr5.hg19:g.170738472C>T	ENSP00000296921:p.Gln249*	242.0	0.0		322.0	38.0	NM_021025	Q96AD3	Nonsense_Mutation	SNP	ENST00000296921.5	hg19	CCDS34288.1	.	.	.	.	.	.	.	.	.	.	C	36	5.651979	0.96714	.	.	ENSG00000164438	ENST00000296921	.	.	.	4.25	4.25	0.50352	.	0.057953	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	16.2636	0.82563	0.0:1.0:0.0:0.0	.	.	.	.	X	249	.	ENSP00000296921:Q249X	Q	+	1	0	TLX3	170671077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.392000	0.79840	1.901000	0.55032	0.491000	0.48974	CAA	.	.		0.647	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372076.3		
CDYL	9425	hgsc.bcm.edu	37	6	4892439	4892439	+	Missense_Mutation	SNP	C	C	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr6:4892439C>A	ENST00000328908.5	+	4	810	c.679C>A	c.(679-681)Cag>Aag	p.Q227K	CDYL_ENST00000343762.5_Missense_Mutation_p.Q41K|CDYL_ENST00000449732.2_Missense_Mutation_p.Q41K|CDYL_ENST00000397588.3_Missense_Mutation_p.Q173K|CDYL_ENST00000472453.1_Intron			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	227	Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CGAGCAGGGTCAGGAGGACAC	0.622																																					p.Q173K		Atlas-SNP	.											.	CDYL	74	.	0			c.C517A						.						46.0	53.0	51.0					6																	4892439		2203	4300	6503	SO:0001583	missense	9425	exon2			CAGGGTCAGGAGG	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.679C>A	chr6.hg19:g.4892439C>A	ENSP00000330512:p.Gln227Lys	113.0	0.0		126.0	24.0	NM_004824	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	hg19		.	.	.	.	.	.	.	.	.	.	C	15.29	2.788951	0.49997	.	.	ENSG00000153046	ENST00000328908;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T	0.55234	0.95;0.57;0.53;0.53	5.55	3.72	0.42706	.	0.670270	0.13571	U	0.378091	T	0.23926	0.0579	L	0.38175	1.15	0.27544	N	0.950718	B;B	0.13594	0.002;0.008	B;B	0.14578	0.005;0.011	T	0.19063	-1.0317	9	.	.	.	.	15.061	0.71955	0.0:0.7303:0.2697:0.0	.	173;227	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	K	227;173;41;41	ENSP00000330512:Q227K;ENSP00000380718:Q173K;ENSP00000394076:Q41K;ENSP00000340908:Q41K	.	Q	+	1	0	CDYL	4837438	1.000000	0.71417	0.273000	0.24645	0.953000	0.61014	3.017000	0.49615	0.661000	0.30985	0.650000	0.86243	CAG	.	.		0.622	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824	
TMEM14C	51522	hgsc.bcm.edu	37	6	10728899	10728899	+	Missense_Mutation	SNP	A	A	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr6:10728899A>G	ENST00000541412.1	+	5	611	c.226A>G	c.(226-228)Atg>Gtg	p.M76V	TMEM14C_ENST00000467415.1_3'UTR|TMEM14C_ENST00000229563.5_Missense_Mutation_p.M76V	NM_001165258.1	NP_001158730.1	Q9P0S9	TM14C_HUMAN	transmembrane protein 14C	76					heme biosynthetic process (GO:0006783)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(2)|lung(3)	5	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	Epithelial(50;0.246)			GGCTGGCATTATGGGAATGAG	0.413																																					p.M76V		Atlas-SNP	.											.	TMEM14C	8	.	0			c.A226G						.						161.0	144.0	150.0					6																	10728899		2203	4300	6503	SO:0001583	missense	51522	exon5			GGCATTATGGGAA	AF151028	CCDS4514.1	6p24.1	2008-02-26	2004-04-16	2004-04-21	ENSG00000111843	ENSG00000111843			20952	protein-coding gene	gene with protein product		615318	"""chromosome 6 open reading frame 53"""	C6orf53		11042152, 12958361	Standard	NM_016462		Approved	HSPC194, bA421M1.6, NET26	uc021ylj.1	Q9P0S9	OTTHUMG00000014242	ENST00000541412.1:c.226A>G	chr6.hg19:g.10728899A>G	ENSP00000444561:p.Met76Val	73.0	0.0		79.0	12.0	NM_001165258	Q5T4I6	Missense_Mutation	SNP	ENST00000541412.1	hg19	CCDS4514.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.30|17.30	3.354364|3.354364	0.61293|0.61293	.|.	.|.	ENSG00000111843|ENSG00000111843	ENST00000541412;ENST00000229563|ENST00000342277	T;T|.	0.46819|.	0.86;0.86|.	3.88|3.88	3.88|3.88	0.44766|0.44766	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79834|0.79834	0.4514|0.4514	H|H	0.95187|0.95187	3.635|3.635	0.80722|0.80722	D|D	1|1	B;B|.	0.33528|.	0.416;0.416|.	P;P|.	0.44673|.	0.457;0.457|.	T|T	0.82486|0.82486	-0.0433|-0.0433	10|6	0.59425|0.37606	D|T	0.04|0.19	.|.	11.6776|11.6776	0.51438|0.51438	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	76;76|.	Q53F27;Q9P0S9|.	.;TM14C_HUMAN|.	V|C	76|75	ENSP00000444561:M76V;ENSP00000229563:M76V|.	ENSP00000229563:M76V|ENSP00000343293:Y75C	M|Y	+|+	1|2	0|0	TMEM14C|TMEM14C	10836885|10836885	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.818000|0.818000	0.46254|0.46254	7.898000|7.898000	0.87363|0.87363	1.374000|1.374000	0.46228|0.46228	0.374000|0.374000	0.22700|0.22700	ATG|TAT	.	.		0.413	TMEM14C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039829.1	NM_016462	
MSH5	4439	hgsc.bcm.edu	37	6	31726633	31726633	+	Missense_Mutation	SNP	G	G	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr6:31726633G>A	ENST00000375755.3	+	15	1593	c.1307G>A	c.(1306-1308)aGt>aAt	p.S436N	MSH5_ENST00000395853.1_Missense_Mutation_p.S110N|MSH5_ENST00000375703.3_Missense_Mutation_p.S436N|MSH5_ENST00000375750.3_Missense_Mutation_p.S436N|MSH5_ENST00000431848.2_Missense_Mutation_p.S135N|MSH5_ENST00000534153.4_Missense_Mutation_p.S453N|MSH5_ENST00000375740.3_Missense_Mutation_p.S453N|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.S453N|MSH5_ENST00000375742.3_Missense_Mutation_p.S453N|RNU6-850P_ENST00000516934.1_RNA	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	436					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						CCTTCATGCAGTGTCATCTAC	0.493								Direct reversal of damage;Mismatch excision repair (MMR)																													p.S453N		Atlas-SNP	.											.	MSH5	108	.	0			c.G1358A						.						101.0	96.0	98.0					6																	31726633		2203	4300	6503	SO:0001583	missense	4439	exon15			CATGCAGTGTCAT	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1307G>A	chr6.hg19:g.31726633G>A	ENSP00000364908:p.Ser436Asn	161.0	0.0		217.0	29.0	NM_025259	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	hg19	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250221	0.39797	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000450148;ENST00000431848;ENST00000395853	D;D;D;D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	5.42	5.42	0.78866	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.050593	0.85682	D	0.000000	T	0.59998	0.2235	N	0.05259	-0.085	0.32564	N	0.5307040000000001	B;B;B;B;B	0.27117	0.035;0.168;0.164;0.002;0.029	B;B;B;B;B	0.30029	0.032;0.067;0.11;0.016;0.027	T	0.55483	-0.8134	9	0.07644	T	0.81	0.3324	10.1909	0.43026	0.0904:0.0:0.9096:0.0	.	121;453;436;436;453	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	N	436;453;436;453;436;453;278;135;110	ENSP00000364908:S436N;ENSP00000364894:S453N;ENSP00000364903:S436N;ENSP00000431693:S453N;ENSP00000364855:S436N;ENSP00000364892:S453N;ENSP00000394971:S278N;ENSP00000416784:S135N;ENSP00000379194:S110N	ENSP00000364855:S436N	S	+	2	0	MSH5	31834612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.685000	0.68204	2.557000	0.86248	0.591000	0.81541	AGT	.	.		0.493	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4		
HLA-DQA2	3118	hgsc.bcm.edu	37	6	32714164	32714164	+	Missense_Mutation	SNP	T	T	C	rs115121776		TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr6:32714164T>C	ENST00000374940.3	+	4	863	c.761T>C	c.(760-762)cTc>cCc	p.L254P		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	254					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	CACCAAGGGCTCTTATGAATC	0.527																																					p.L254P		Atlas-SNP	.											.	HLA-DQA2	27	.	0			c.T761C						.						124.0	126.0	125.0					6																	32714164		1511	2709	4220	SO:0001583	missense	3118	exon4			AAGGGCTCTTATG		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.761T>C	chr6.hg19:g.32714164T>C	ENSP00000364076:p.Leu254Pro	147.0	0.0		177.0	9.0	NM_020056	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	hg19	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.487525	0.00011	.	.	ENSG00000237541	ENST00000374940	T	0.01685	4.69	3.06	1.21	0.21127	.	1.322850	0.05780	N	0.608367	T	0.00144	0.0004	N	0.00175	-1.925	0.23107	N	0.998286	B	0.02656	0.0	B	0.01281	0.0	T	0.43147	-0.9409	10	0.02654	T	1	.	5.2607	0.15571	0.0:0.7098:0.0:0.2902	.	254	P01906	DQA2_HUMAN	P	254	ENSP00000364076:L254P	ENSP00000364076:L254P	L	+	2	0	HLA-DQA2	32822142	0.000000	0.05858	0.162000	0.22713	0.013000	0.08279	0.678000	0.25277	0.152000	0.19188	-1.188000	0.01700	CTC	.	.		0.527	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056	
KIF6	221458	hgsc.bcm.edu	37	6	39607439	39607439	+	Missense_Mutation	SNP	C	C	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr6:39607439C>T	ENST00000287152.7	-	4	440	c.346G>A	c.(346-348)Gac>Aac	p.D116N	KIF6_ENST00000373215.3_Missense_Mutation_p.D116N|KIF6_ENST00000373216.3_Missense_Mutation_p.D116N|KIF6_ENST00000538893.1_Missense_Mutation_p.D116N	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	116	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATGCCTCTGTCACTGTAACGC	0.418																																					p.D116N		Atlas-SNP	.											.	KIF6	233	.	0			c.G346A						.						177.0	133.0	148.0					6																	39607439		2203	4300	6503	SO:0001583	missense	221458	exon4			CTCTGTCACTGTA	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.346G>A	chr6.hg19:g.39607439C>T	ENSP00000287152:p.Asp116Asn	131.0	0.0		147.0	18.0	NM_145027	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	hg19	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	C	36	5.833923	0.97003	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373215;ENST00000538893	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.67	5.67	0.87782	Kinesin, motor domain (4);	.	.	.	.	T	0.72969	0.3527	L	0.42686	1.345	0.80722	D	1	D;P;D	0.89917	1.0;0.729;1.0	D;B;D	0.91635	0.995;0.444;0.999	T	0.65697	-0.6105	9	0.14656	T	0.56	.	19.3678	0.94471	0.0:1.0:0.0:0.0	.	116;116;116	E7EUN7;F6VGH2;Q6ZMV9	.;.;KIF6_HUMAN	N	116	ENSP00000287152:D116N;ENSP00000362312:D116N;ENSP00000362311:D116N;ENSP00000441435:D116N	ENSP00000287152:D116N	D	-	1	0	KIF6	39715417	1.000000	0.71417	0.991000	0.47740	0.973000	0.67179	7.696000	0.84270	2.687000	0.91594	0.655000	0.94253	GAC	.	.		0.418	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027	
LRFN2	57497	hgsc.bcm.edu	37	6	40360391	40360391	+	Missense_Mutation	SNP	A	A	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr6:40360391A>G	ENST00000338305.6	-	3	2203	c.1661T>C	c.(1660-1662)aTg>aCg	p.M554T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	554						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTAGCGCACCATGAGGATGAC	0.627																																					p.M554T		Atlas-SNP	.											.	LRFN2	133	.	0			c.T1661C						.						72.0	57.0	62.0					6																	40360391		2203	4300	6503	SO:0001583	missense	57497	exon3			CGCACCATGAGGA	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1661T>C	chr6.hg19:g.40360391A>G	ENSP00000345985:p.Met554Thr	85.0	0.0		95.0	11.0	NM_020737	A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	hg19	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	a	19.82	3.898442	0.72639	.	.	ENSG00000156564	ENST00000338305	T	0.61742	0.08	5.41	5.41	0.78517	.	0.113552	0.85682	D	0.000000	T	0.64405	0.2595	M	0.81802	2.56	0.80722	D	1	P	0.47253	0.892	P	0.53266	0.722	T	0.71741	-0.4501	10	0.87932	D	0	.	14.2596	0.66076	1.0:0.0:0.0:0.0	.	554	Q9ULH4	LRFN2_HUMAN	T	554	ENSP00000345985:M554T	ENSP00000345985:M554T	M	-	2	0	LRFN2	40468369	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.285000	0.95894	2.043000	0.60533	0.529000	0.55759	ATG	.	.		0.627	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372	
TNFRSF21	27242	hgsc.bcm.edu	37	6	47251729	47251729	+	Missense_Mutation	SNP	T	T	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr6:47251729T>A	ENST00000296861.2	-	3	1581	c.1188A>T	c.(1186-1188)aaA>aaT	p.K396N		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	396					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GAGTCATGGATTTCTTCAGCC	0.527																																					p.K396N		Atlas-SNP	.											.	TNFRSF21	61	.	0			c.A1188T						.						106.0	109.0	108.0					6																	47251729		2203	4300	6503	SO:0001583	missense	27242	exon3			CATGGATTTCTTC	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1188A>T	chr6.hg19:g.47251729T>A	ENSP00000296861:p.Lys396Asn	114.0	0.0		124.0	14.0	NM_014452	B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	hg19	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628927	0.67015	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.74632	-0.86	6.17	1.25	0.21368	Death (1);	0.000000	0.85682	D	0.000000	T	0.76104	0.3941	M	0.63843	1.955	0.49582	D	0.999803	D	0.89917	1.0	D	0.87578	0.998	T	0.77270	-0.2650	10	0.87932	D	0	.	10.6599	0.45696	0.0:0.3964:0.0:0.6036	.	396	O75509	TNR21_HUMAN	N	396;85	ENSP00000296861:K396N	ENSP00000296861:K396N	K	-	3	2	TNFRSF21	47359688	0.953000	0.32496	0.988000	0.46212	0.925000	0.55904	0.322000	0.19576	-0.006000	0.14370	-0.256000	0.11100	AAA	.	.		0.527	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452	
SAMD9	54809	hgsc.bcm.edu	37	7	92731170	92731170	+	Missense_Mutation	SNP	T	T	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr7:92731170T>C	ENST00000379958.2	-	3	4510	c.4241A>G	c.(4240-4242)cAg>cGg	p.Q1414R		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1414						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTCTCGAAGCTGATCTTTTAG	0.378																																					p.Q1414R		Atlas-SNP	.											SAMD9,right_upper_lobe,carcinoma,0,1	SAMD9	239	.	0			c.A4241G						.						138.0	143.0	141.0					7																	92731170		2203	4300	6503	SO:0001583	missense	54809	exon2			CGAAGCTGATCTT	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4241A>G	chr7.hg19:g.92731170T>C	ENSP00000369292:p.Gln1414Arg	146.0	0.0		120.0	17.0	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	hg19	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	3.114	-0.182080	0.06340	.	.	ENSG00000205413	ENST00000379958	T	0.22336	1.96	4.56	3.31	0.37934	.	0.420119	0.21138	N	0.079526	T	0.14399	0.0348	L	0.46157	1.445	0.21822	N	0.999522	B	0.33694	0.421	B	0.29942	0.109	T	0.15838	-1.0423	10	0.07482	T	0.82	-5.3122	9.9689	0.41741	0.1521:0.0:0.0:0.8479	.	1414	Q5K651	SAMD9_HUMAN	R	1414	ENSP00000369292:Q1414R	ENSP00000369292:Q1414R	Q	-	2	0	SAMD9	92569106	0.541000	0.26417	1.000000	0.80357	0.947000	0.59692	1.414000	0.34736	2.034000	0.60081	0.491000	0.48974	CAG	.	.		0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
FBXO24	26261	hgsc.bcm.edu	37	7	100192090	100192090	+	Missense_Mutation	SNP	A	A	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr7:100192090A>G	ENST00000241071.6	+	6	1200	c.878A>G	c.(877-879)aAg>aGg	p.K293R	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.K279R|FBXO24_ENST00000360609.2_Missense_Mutation_p.K279R|FBXO24_ENST00000468962.1_Missense_Mutation_p.K281R|FBXO24_ENST00000427939.2_Missense_Mutation_p.K331R|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	293					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCCCTGAGGAAGGTGTCCCAC	0.592																																					p.K331R		Atlas-SNP	.											.	FBXO24	125	.	0			c.A992G						.						108.0	84.0	92.0					7																	100192090		2203	4300	6503	SO:0001583	missense	26261	exon6			TGAGGAAGGTGTC	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.878A>G	chr7.hg19:g.100192090A>G	ENSP00000241071:p.Lys293Arg	110.0	0.0		127.0	15.0	NM_012172	A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	hg19	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.052596	0.75960	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	T;T;T;T;T	0.80653	-1.4;0.43;0.43;-1.4;-1.4	5.03	5.03	0.67393	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	D	0.000003	T	0.66761	0.2822	N	0.08118	0	0.40451	D	0.980148	D;D;D;P	0.53151	0.958;0.958;0.958;0.933	P;P;P;B	0.45276	0.475;0.475;0.475;0.359	T	0.72087	-0.4396	10	0.42905	T	0.14	-14.2967	12.7928	0.57543	1.0:0.0:0.0:0.0	.	281;331;293;279	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	R	293;279;279;281;331	ENSP00000241071:K293R;ENSP00000353821:K279R;ENSP00000419602:K279R;ENSP00000420239:K281R;ENSP00000416558:K331R	ENSP00000241071:K293R	K	+	2	0	FBXO24	100030026	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.978000	0.56881	2.137000	0.66172	0.392000	0.25879	AAG	.	.		0.592	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1		
PODXL	5420	hgsc.bcm.edu	37	7	131195912	131195912	+	Missense_Mutation	SNP	T	T	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr7:131195912T>G	ENST00000378555.3	-	2	628	c.381A>C	c.(379-381)aaA>aaC	p.K127N	PODXL_ENST00000465001.1_5'Flank|PODXL_ENST00000537928.1_Missense_Mutation_p.K127N|PODXL_ENST00000541194.1_Missense_Mutation_p.K129N|PODXL_ENST00000322985.9_Missense_Mutation_p.K127N			O00592	PODXL_HUMAN	podocalyxin-like	127	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TGTCTGCACTTTTTGTGCTCT	0.552																																					p.K127N		Atlas-SNP	.											.	PODXL	53	.	0			c.A381C						.						238.0	229.0	232.0					7																	131195912		2203	4300	6503	SO:0001583	missense	5420	exon2			TGCACTTTTTGTG		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.381A>C	chr7.hg19:g.131195912T>G	ENSP00000367817:p.Lys127Asn	213.0	0.0		288.0	45.0	NM_001018111	A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	hg19	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	T	2.626	-0.287547	0.05605	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.12984	2.74;2.63;2.75;2.83	0.724	-1.45	0.08828	.	.	.	.	.	T	0.04907	0.0132	N	0.14661	0.345	0.09310	N	1	P;B	0.34934	0.476;0.198	B;B	0.27608	0.052;0.081	T	0.31916	-0.9926	8	0.23891	T	0.37	2.5449	.	.	.	.	127;127	O00592-2;O00592	.;PODXL_HUMAN	N	129;127;117;127;127	ENSP00000440518:K129N;ENSP00000442655:K127N;ENSP00000367817:K127N;ENSP00000319782:K127N	ENSP00000319782:K127N	K	-	3	2	PODXL	130846452	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.832000	0.01696	-1.396000	0.02071	-0.654000	0.03906	AAA	.	.		0.552	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111	
KIAA1549	57670	hgsc.bcm.edu	37	7	138564336	138564336	+	Silent	SNP	A	A	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr7:138564336A>G	ENST00000422774.1	-	12	4341	c.4293T>C	c.(4291-4293)gaT>gaC	p.D1431D	KIAA1549_ENST00000242365.4_Silent_p.D1381D|KIAA1549_ENST00000440172.1_Silent_p.D1431D			Q9HCM3	K1549_HUMAN	KIAA1549	1431						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCGGCGTCTTATCTCCTGCGT	0.512			O	BRAF	pilocytic astrocytoma																																p.D1431D	NSCLC(119;1534 1718 44213 46230 50068)	Atlas-SNP	.		Dom	yes		7	7q34	57670	KIAA1549		O	.	KIAA1549	314	.	0			c.T4293C						.						27.0	29.0	29.0					7																	138564336		1869	4103	5972	SO:0001819	synonymous_variant	57670	exon12			CGTCTTATCTCCT		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4293T>C	chr7.hg19:g.138564336A>G		26.0	0.0		27.0	5.0	NM_020910	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	hg19	CCDS56513.1																																																																																			.	.		0.512	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		
PXDNL	137902	hgsc.bcm.edu	37	8	52339318	52339318	+	Splice_Site	SNP	G	G	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr8:52339318G>C	ENST00000356297.4	-	13	1626	c.1526C>G	c.(1525-1527)gCt>gGt	p.A509G	PXDNL_ENST00000543296.1_Splice_Site_p.A509G	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	509	Ig-like C2-type 4.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACTGCAAGAGCTGTGGAAAC	0.373																																					p.A509G		Atlas-SNP	.											.	PXDNL	414	.	0			c.C1526G						.						74.0	66.0	69.0					8																	52339318		1873	4109	5982	SO:0001630	splice_region_variant	137902	exon13			GCAAGAGCTGTGG		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1526-1C>G	chr8.hg19:g.52339318G>C		33.0	0.0		53.0	9.0	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	hg19	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	3.740	-0.053773	0.07362	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66815	-0.2;-0.23	4.18	-5.33	0.02713	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39306	0.1073	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.19778	-1.0295	9	0.18710	T	0.47	.	2.3172	0.04201	0.5321:0.1386:0.1895:0.1398	.	509	A1KZ92	PXDNL_HUMAN	G	509	ENSP00000348645:A509G;ENSP00000444865:A509G	ENSP00000348645:A509G	A	-	2	0	PXDNL	52501871	0.009000	0.17119	0.000000	0.03702	0.005000	0.04900	-0.238000	0.08977	-1.044000	0.03254	-0.157000	0.13467	GCT	.	.		0.373	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	Missense_Mutation
EYA1	2138	hgsc.bcm.edu	37	8	72234031	72234031	+	Missense_Mutation	SNP	T	T	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr8:72234031T>C	ENST00000340726.3	-	6	995	c.356A>G	c.(355-357)cAa>cGa	p.Q119R	EYA1_ENST00000388742.4_Missense_Mutation_p.Q119R|EYA1_ENST00000303824.7_Missense_Mutation_p.Q118R|EYA1_ENST00000388743.2_Missense_Mutation_p.Q118R|EYA1_ENST00000419131.1_Missense_Mutation_p.Q119R|EYA1_ENST00000388741.2_Missense_Mutation_p.Q85R|EYA1_ENST00000388740.3_Missense_Mutation_p.Q86R	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	119					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.Q119L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGTAGCTTGTTGCATTCCTGT	0.488																																					p.Q119R		Atlas-SNP	.											EYA1,NS,lymphoid_neoplasm,0,2	EYA1	108	.	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.A356G						.						200.0	154.0	169.0					8																	72234031		2203	4300	6503	SO:0001583	missense	2138	exon5			GCTTGTTGCATTC	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.356A>G	chr8.hg19:g.72234031T>C	ENSP00000342626:p.Gln119Arg	288.0	0.0		335.0	38.0	NM_172059	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	hg19	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283613	0.80803	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	M	0.75615	2.305	0.58432	D	0.999992	D;D;D;D;D	0.76494	0.994;0.999;0.999;0.994;0.997	D;D;D;D;D	0.87578	0.986;0.998;0.998;0.986;0.958	D	0.93917	0.7202	10	0.49607	T	0.09	-9.9561	15.3428	0.74311	0.0:0.0:0.0:1.0	.	118;46;86;119;119	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	R	119;119;87;86;118;85;118;119	ENSP00000373394:Q119R;ENSP00000342626:Q119R;ENSP00000373392:Q86R;ENSP00000303221:Q118R;ENSP00000373393:Q85R;ENSP00000373395:Q118R;ENSP00000410176:Q119R	ENSP00000303221:Q118R	Q	-	2	0	EYA1	72396585	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.145000	0.71769	2.083000	0.62718	0.528000	0.53228	CAA	.	.		0.488	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060	
ESRP1	54845	hgsc.bcm.edu	37	8	95676928	95676928	+	Silent	SNP	C	C	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr8:95676928C>T	ENST00000433389.2	+	7	838	c.648C>T	c.(646-648)agC>agT	p.S216S	ESRP1_ENST00000358397.5_Silent_p.S216S|ESRP1_ENST00000423620.2_Silent_p.S216S|ESRP1_ENST00000454170.2_Silent_p.S216S	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	216					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TCCACAGCAGCAAGATGGAAC	0.428																																					p.S216S		Atlas-SNP	.											.	ESRP1	148	.	0			c.C648T						.						107.0	99.0	102.0					8																	95676928		1954	4154	6108	SO:0001819	synonymous_variant	54845	exon7			CAGCAGCAAGATG	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.648C>T	chr8.hg19:g.95676928C>T		137.0	0.0		190.0	18.0	NM_001122827	A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Silent	SNP	ENST00000433389.2	hg19	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	C	9.963	1.223329	0.22457	.	.	ENSG00000104413	ENST00000519505	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.7934	19.798	0.96494	0.0:1.0:0.0:0.0	.	.	.	.	X	82	.	.	Q	+	1	0	ESRP1	95746104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.478000	0.35442	2.677000	0.91161	0.563000	0.77884	CAA	.	.		0.428	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697	
SCRIB	23513	hgsc.bcm.edu	37	8	144892681	144892681	+	Missense_Mutation	SNP	G	G	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr8:144892681G>C	ENST00000320476.3	-	13	1504	c.1498C>G	c.(1498-1500)Cca>Gca	p.P500A	MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000356994.2_Missense_Mutation_p.P500A|SCRIB_ENST00000377533.3_Missense_Mutation_p.P419A	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	500	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)			CCAGAGTCTGGCTGGCAAGGG	0.692																																					p.P500A	Pancreas(51;966 1133 10533 14576 29674)	Atlas-SNP	.											.	SCRIB	192	.	0			c.C1498G						.						55.0	60.0	58.0					8																	144892681		2203	4299	6502	SO:0001583	missense	23513	exon13			AGTCTGGCTGGCA	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.1498C>G	chr8.hg19:g.144892681G>C	ENSP00000322938:p.Pro500Ala	109.0	0.0		151.0	20.0	NM_015356	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	hg19	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751837	0.31046	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.75260	-0.92;-0.92;-0.92	4.35	4.35	0.52113	.	.	.	.	.	T	0.70369	0.3216	M	0.63843	1.955	0.09310	N	1	B;B	0.25105	0.037;0.118	B;B	0.24155	0.012;0.051	T	0.58358	-0.7650	9	0.24483	T	0.36	.	12.6158	0.56576	0.0:0.1683:0.8317:0.0	.	500;500	Q14160;Q14160-3	SCRIB_HUMAN;.	A	500;500;419	ENSP00000349486:P500A;ENSP00000322938:P500A;ENSP00000366756:P419A	ENSP00000322938:P500A	P	-	1	0	SCRIB	144964669	0.996000	0.38824	0.129000	0.21949	0.091000	0.18340	3.665000	0.54532	2.148000	0.66965	0.563000	0.77884	CCA	.	.		0.692	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356	
SH3GL2	6456	hgsc.bcm.edu	37	9	17789515	17789515	+	Silent	SNP	T	T	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr9:17789515T>A	ENST00000380607.4	+	6	711	c.591T>A	c.(589-591)gcT>gcA	p.A197A	SH3GL2_ENST00000537391.1_Silent_p.A150A	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	197	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGGAAATTGCTGAGTCAAGCA	0.393																																					p.A197A		Atlas-SNP	.											.	SH3GL2	60	.	0			c.T591A						.						103.0	103.0	103.0					9																	17789515		2203	4300	6503	SO:0001819	synonymous_variant	6456	exon6			AATTGCTGAGTCA	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.591T>A	chr9.hg19:g.17789515T>A		66.0	0.0		91.0	19.0	NM_003026	B2R618|Q9NQK5	Silent	SNP	ENST00000380607.4	hg19	CCDS6483.1																																																																																			.	.		0.393	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026	
TJP2	9414	hgsc.bcm.edu	37	9	71836182	71836182	+	Missense_Mutation	SNP	G	G	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr9:71836182G>A	ENST00000377245.4	+	5	930	c.722G>A	c.(721-723)cGc>cAc	p.R241H	TJP2_ENST00000535702.1_Missense_Mutation_p.R245H|TJP2_ENST00000453658.2_Missense_Mutation_p.R218H|TJP2_ENST00000265384.7_Missense_Mutation_p.R241H|TJP2_ENST00000348208.4_Missense_Mutation_p.R241H|TJP2_ENST00000539225.1_Missense_Mutation_p.R272H	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	241					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GACCGCAGCCGCGGCCGGAGC	0.726																																					p.R272H		Atlas-SNP	.											.	TJP2	120	.	0			c.G815A						.						15.0	20.0	18.0					9																	71836182		2189	4286	6475	SO:0001583	missense	9414	exon5			GCAGCCGCGGCCG	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.722G>A	chr9.hg19:g.71836182G>A	ENSP00000366453:p.Arg241His	58.0	0.0		72.0	6.0	NM_001170416	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	hg19	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	9.270	1.045346	0.19748	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	4.4	1.39	0.22231	.	0.379077	0.26812	N	0.022363	T	0.39682	0.1087	L	0.46157	1.445	0.24222	N	0.995431	B;B;B;B;P	0.50443	0.017;0.003;0.003;0.002;0.935	B;B;B;B;B	0.37650	0.007;0.005;0.003;0.001;0.255	T	0.34329	-0.9833	9	.	.	.	.	3.6203	0.08093	0.2475:0.0:0.4452:0.3073	.	272;245;241;241;241	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	H	218;241;241;241;245;272	ENSP00000392178:R218H;ENSP00000366453:R241H;ENSP00000345893:R241H;ENSP00000265384:R241H;ENSP00000442090:R245H;ENSP00000438262:R272H	.	R	+	2	0	TJP2	71026002	0.224000	0.23674	0.013000	0.15412	0.103000	0.19146	0.665000	0.25083	0.064000	0.16427	0.655000	0.94253	CGC	.	.		0.726	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629	
GAPVD1	26130	hgsc.bcm.edu	37	9	128118132	128118132	+	Missense_Mutation	SNP	G	G	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr9:128118132G>A	ENST00000495955.1	+	25	4311	c.4021G>A	c.(4021-4023)Gac>Aac	p.D1341N	GAPVD1_ENST00000265956.4_Missense_Mutation_p.D1315N|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D1350N|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D1341N|GAPVD1_ENST00000470056.1_Missense_Mutation_p.D1296N|GAPVD1_ENST00000312123.9_Missense_Mutation_p.D1302N|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D1323N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D1275N			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1341	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CATACTTCGCGACCAGTAAGT	0.463																																					p.D1350N		Atlas-SNP	.											.	GAPVD1	124	.	0			c.G4048A						.						93.0	79.0	84.0					9																	128118132		2203	4300	6503	SO:0001583	missense	26130	exon24			CTTCGCGACCAGT		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.4021G>A	chr9.hg19:g.128118132G>A	ENSP00000419063:p.Asp1341Asn	214.0	0.0		221.0	35.0	NM_015635	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	hg19		.	.	.	.	.	.	.	.	.	.	G	36	5.778991	0.96929	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123;ENST00000438537	T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	6.03	6.03	0.97812	Vacuolar sorting protein 9 (1);	0.000000	0.85682	D	0.000000	T	0.74253	0.3692	M	0.86097	2.795	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;0.999	D;D;D;D;D;D	0.85130	0.978;0.949;0.951;0.997;0.979;0.984	T	0.76683	-0.2869	10	0.87932	D	0	.	19.5544	0.95335	0.0:0.0:1.0:0.0	.	1341;356;1296;1302;1323;1350	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	N	1296;1350;1341;1315;1275;1341;1323;1302;34	ENSP00000419767:D1296N;ENSP00000377665:D1350N;ENSP00000377664:D1341N;ENSP00000265956:D1315N;ENSP00000377645:D1275N;ENSP00000419063:D1341N;ENSP00000297933:D1323N;ENSP00000309582:D1302N	ENSP00000265956:D1315N	D	+	1	0	GAPVD1	127157953	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.378000	0.97191	2.868000	0.98415	0.603000	0.83216	GAC	.	.		0.463	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1		
PCDH15	65217	hgsc.bcm.edu	37	10	55581783	55581783	+	Silent	SNP	A	A	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr10:55581783A>G	ENST00000320301.6	-	33	6097	c.5703T>C	c.(5701-5703)agT>agC	p.S1901S	PCDH15_ENST00000373957.3_Silent_p.S755S|PCDH15_ENST00000437009.1_Silent_p.S1832S|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Silent_p.S1861S|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000361849.3_Silent_p.S1903S|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Silent_p.S1898S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.S1878S|PCDH15_ENST00000373965.2_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1901					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTCTATTTGACTGTACATGT	0.368										HNSCC(58;0.16)																											p.S1908S		Atlas-SNP	.											PCDH15_ENST00000417177,NS,carcinoma,-2,2	PCDH15	1715	.	0			c.T5724C						.						210.0	194.0	199.0					10																	55581783		2203	4300	6503	SO:0001819	synonymous_variant	65217	exon35			TATTTGACTGTAC	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5703T>C	chr10.hg19:g.55581783A>G		98.0	0.0		71.0	8.0	NM_001142763	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	hg19	CCDS7248.1																																																																																			.	.		0.368	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
LDB3	11155	hgsc.bcm.edu	37	10	88452294	88452294	+	Missense_Mutation	SNP	C	C	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr10:88452294C>A	ENST00000361373.4	+	6	883	c.862C>A	c.(862-864)Caa>Aaa	p.Q288K	LDB3_ENST00000352360.5_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000429277.2_Missense_Mutation_p.Q356K|LDB3_ENST00000458213.2_Missense_Mutation_p.Q241K|LDB3_ENST00000310944.6_Missense_Mutation_p.Q288K|LDB3_ENST00000263066.6_Missense_Mutation_p.Q241K|LDB3_ENST00000372066.3_Missense_Mutation_p.Q241K|LDB3_ENST00000372056.4_Missense_Mutation_p.Q356K	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						ACCAACAGTGCAAGACCCTGA	0.617																																					p.Q356K		Atlas-SNP	.											.	LDB3	164	.	0			c.C1066A						.						134.0	119.0	124.0					10																	88452294		2203	4300	6503	SO:0001583	missense	11155	exon8			ACAGTGCAAGACC	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.862C>A	chr10.hg19:g.88452294C>A	ENSP00000355296:p.Gln288Lys	122.0	0.0		133.0	6.0	NM_001171610		Missense_Mutation	SNP	ENST00000361373.4	hg19	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094118	0.94149	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000372066;ENST00000263066;ENST00000372056;ENST00000310944;ENST00000361373	T;T;T;T;T;T;T	0.55413	0.69;0.52;0.85;0.52;0.79;0.98;0.57	5.92	5.92	0.95590	.	.	.	.	.	T	0.53126	0.1777	L	0.37630	1.12	0.80722	D	1	B;B;B;B;B;D;P	0.54047	0.199;0.011;0.433;0.307;0.167;0.964;0.894	B;B;B;B;B;P;P	0.52554	0.06;0.025;0.127;0.06;0.066;0.702;0.676	T	0.42155	-0.9468	9	0.05436	T	0.98	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	356;288;356;288;241;288;241	B4E3K3;F5H0C2;O75112-4;O75112;O75112-2;O75112-5;O75112-6	.;.;.;LDB3_HUMAN;.;.;.	K	288;356;241;241;241;356;288;288	ENSP00000401437:Q356K;ENSP00000409148:Q241K;ENSP00000361136:Q241K;ENSP00000263066:Q241K;ENSP00000361126:Q356K;ENSP00000311913:Q288K;ENSP00000355296:Q288K	ENSP00000263066:Q241K	Q	+	1	0	LDB3	88442274	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.280000	0.78610	2.804000	0.96469	0.655000	0.94253	CAA	.	.		0.617	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2		
DCHS1	8642	hgsc.bcm.edu	37	11	6643111	6643111	+	Missense_Mutation	SNP	G	G	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr11:6643111G>A	ENST00000299441.3	-	21	10207	c.9796C>T	c.(9796-9798)Ccc>Tcc	p.P3266S	TPP1_ENST00000533371.1_5'Flank|TPP1_ENST00000534644.1_5'Flank|TPP1_ENST00000299427.6_5'Flank|RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000528657.1_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3266					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGACAACGGGTGAGCGAGCA	0.622																																					p.P3266S		Atlas-SNP	.											.	DCHS1	277	.	0			c.C9796T						.						53.0	47.0	49.0					11																	6643111		2201	4296	6497	SO:0001583	missense	8642	exon21			CAACGGGTGAGCG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9796C>T	chr11.hg19:g.6643111G>A	ENSP00000299441:p.Pro3266Ser	102.0	0.0		126.0	14.0	NM_003737	O15098	Missense_Mutation	SNP	ENST00000299441.3	hg19	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758475	0.69763	.	.	ENSG00000166341	ENST00000299441	T	0.74106	-0.81	5.01	5.01	0.66863	.	0.000000	0.42053	D	0.000778	D	0.86814	0.6023	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88512	0.3090	10	0.87932	D	0	.	17.0523	0.86523	0.0:0.0:1.0:0.0	.	3266	Q96JQ0	PCD16_HUMAN	S	3266	ENSP00000299441:P3266S	ENSP00000299441:P3266S	P	-	1	0	DCHS1	6599687	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.774000	0.85478	2.595000	0.87683	0.462000	0.41574	CCC	.	.		0.622	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
ASCL3	56676	hgsc.bcm.edu	37	11	8959174	8959174	+	Nonsense_Mutation	SNP	T	T	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr11:8959174T>A	ENST00000531618.1	-	1	584	c.535A>T	c.(535-537)Aga>Tga	p.R179*	ASCL3_ENST00000325884.1_Nonsense_Mutation_p.R179*			Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	178					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		CAAACAATTCTGAACATAGGG	0.393																																					p.R179X		Atlas-SNP	.											.	ASCL3	19	.	0			c.A535T						.						141.0	144.0	143.0					11																	8959174		2201	4295	6496	SO:0001587	stop_gained	56676	exon2			CAATTCTGAACAT	AJ400877	CCDS7795.1	11p15.3	2013-10-17	2013-10-17			ENSG00000176009		"""Basic helix-loop-helix proteins"""	740	protein-coding gene	gene with protein product		609154	"""achaete-scute complex (Drosophila) homolog-like 3"", ""achaete-scute complex homolog 3 (Drosophila)"""			11528127	Standard	NM_020646		Approved	bHLHa42, HASH3, Sgn1	uc001mhd.1	Q9NQ33	OTTHUMG00000165679	ENST00000531618.1:c.535A>T	chr11.hg19:g.8959174T>A	ENSP00000435770:p.Arg179*	78.0	0.0		85.0	4.0	NM_020646	Q8WYQ6	Nonsense_Mutation	SNP	ENST00000531618.1	hg19	CCDS7795.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.028248	0.35797	.	.	ENSG00000176009	ENST00000325884;ENST00000531618	.	.	.	5.67	4.47	0.54385	.	0.325654	0.26514	N	0.023960	.	.	.	.	.	.	0.26563	N	0.973703	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0869	9.3574	0.38175	0.0:0.0:0.18:0.82	.	.	.	.	X	179	.	ENSP00000318846:R179X	R	-	1	2	ASCL3	8915750	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	2.800000	0.47900	2.285000	0.76669	0.528000	0.53228	AGA	.	.		0.393	ASCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385773.1		
EXT2	2132	hgsc.bcm.edu	37	11	44255728	44255728	+	Missense_Mutation	SNP	A	A	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr11:44255728A>G	ENST00000343631.3	+	12	1999	c.1870A>G	c.(1870-1872)Atg>Gtg	p.M624V	EXT2_ENST00000358681.4_Missense_Mutation_p.M634V|EXT2_ENST00000395673.3_Missense_Mutation_p.M657V|EXT2_ENST00000533608.1_Missense_Mutation_p.M624V			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	624	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						AGATGCTCATATGAACTGTGA	0.408			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																												p.M657V		Atlas-SNP	.	yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	.	EXT2	129	.	0			c.A1969G						.						115.0	108.0	111.0					11																	44255728		2203	4299	6502	SO:0001583	missense	2132	exon12	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	GCTCATATGAACT		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1870A>G	chr11.hg19:g.44255728A>G	ENSP00000342656:p.Met624Val	160.0	0.0		195.0	31.0	NM_000401	B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	hg19	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.315620	0.60524	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.64	5.64	0.86602	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.88411	0.6429	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D	0.76494	0.985;0.994;0.992;0.996;0.999	D;D;D;D;D	0.72625	0.977;0.946;0.911;0.946;0.978	D	0.87648	0.2526	10	0.30078	T	0.28	-6.5982	15.8713	0.79122	1.0:0.0:0.0:0.0	.	624;634;634;624;637	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	V	624;634;657;624	ENSP00000431173:M624V;ENSP00000351509:M634V;ENSP00000379032:M657V;ENSP00000342656:M624V	ENSP00000342656:M624V	M	+	1	0	EXT2	44212304	1.000000	0.71417	0.966000	0.40874	0.391000	0.30476	9.339000	0.96797	2.144000	0.66660	0.533000	0.62120	ATG	.	.		0.408	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401	
ALX4	60529	hgsc.bcm.edu	37	11	44289129	44289129	+	Missense_Mutation	SNP	C	C	T	rs368050443		TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr11:44289129C>T	ENST00000329255.3	-	3	924	c.821G>A	c.(820-822)cGt>cAt	p.R274H		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	274					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R274H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGCCCAAAACGCTCCCGCTT	0.597																																					p.R274H		Atlas-SNP	.											ALX4,right_upper_lobe,carcinoma,-1,1	ALX4	58	.	1	Substitution - Missense(1)	lung(1)	c.G821A						.	C	HIS/ARG	0,4406		0,0,2203	179.0	146.0	157.0		821	4.9	1.0	11		157	1,8597	1.2+/-3.3	0,1,4298	no	missense	ALX4	NM_021926.3	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	274/412	44289129	1,13003	2203	4299	6502	SO:0001583	missense	60529	exon3			CCAAAACGCTCCC	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.821G>A	chr11.hg19:g.44289129C>T	ENSP00000332744:p.Arg274His	107.0	0.0		206.0	33.0	NM_021926	Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	hg19	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	C	36	5.646267	0.96704	0.0	1.16E-4	ENSG00000052850	ENST00000329255	D	0.92965	-3.14	4.88	4.88	0.63580	Homeobox (1);Homeodomain-like (1);	0.116529	0.64402	D	0.000018	D	0.95853	0.8650	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.96120	0.9084	10	0.87932	D	0	.	18.578	0.91162	0.0:1.0:0.0:0.0	.	274	Q9H161	ALX4_HUMAN	H	274	ENSP00000332744:R274H	ENSP00000332744:R274H	R	-	2	0	ALX4	44245705	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.817000	0.69229	2.700000	0.92200	0.462000	0.41574	CGT	.	.		0.597	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1		
NR1H3	10062	hgsc.bcm.edu	37	11	47282864	47282864	+	Missense_Mutation	SNP	C	C	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr11:47282864C>T	ENST00000467728.1	+	4	1810	c.572C>T	c.(571-573)tCc>tTc	p.S191F	NR1H3_ENST00000405576.1_Missense_Mutation_p.S146F|NR1H3_ENST00000405853.3_Missense_Mutation_p.S191F|NR1H3_ENST00000527949.1_Missense_Mutation_p.S100F|NR1H3_ENST00000481889.2_Missense_Mutation_p.S146F|NR1H3_ENST00000407404.1_Missense_Mutation_p.S191F|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000395397.3_Missense_Mutation_p.S146F|NR1H3_ENST00000441012.2_Missense_Mutation_p.S191F			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	191					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CATGCCACATCCTTGCCCCCC	0.582																																					p.S197F		Atlas-SNP	.											.	NR1H3	52	.	0			c.C590T						.						63.0	61.0	62.0					11																	47282864		2201	4298	6499	SO:0001583	missense	10062	exon5			CCACATCCTTGCC	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.572C>T	chr11.hg19:g.47282864C>T	ENSP00000420656:p.Ser191Phe	165.0	0.0		210.0	32.0	NM_001251934	A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	hg19	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.227501	0.39399	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000436778;ENST00000531660;ENST00000407404;ENST00000444396;ENST00000449369;ENST00000441012;ENST00000436029;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;D;T;D;D;D;D;D;D;D;D	0.94613	-3.01;-3.28;-3.15;-2.49;0.85;-3.29;-2.67;-2.5;-3.02;-2.52;-3.02;-3.29;-3.47	5.33	5.33	0.75918	.	1.295660	0.05288	N	0.520526	D	0.93236	0.7845	L	0.32530	0.975	0.09310	N	1	P;B;B;P;B	0.47350	0.545;0.13;0.075;0.894;0.338	B;B;B;P;B	0.47044	0.261;0.094;0.057;0.535;0.168	D	0.84986	0.0891	10	0.62326	D	0.03	.	11.0246	0.47739	0.0:0.8852:0.0:0.1148	.	197;146;191;146;191	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	F	146;146;146;191;57;191;191;191;191;191;191;191;100	ENSP00000378793:S146F;ENSP00000385073:S146F;ENSP00000433271:S146F;ENSP00000403798:S191F;ENSP00000434650:S57F;ENSP00000385801:S191F;ENSP00000391005:S191F;ENSP00000415591:S191F;ENSP00000387946:S191F;ENSP00000403696:S191F;ENSP00000420656:S191F;ENSP00000384745:S191F;ENSP00000432073:S100F	ENSP00000378793:S146F	S	+	2	0	NR1H3	47239440	0.090000	0.21635	0.010000	0.14722	0.723000	0.41478	3.648000	0.54410	2.871000	0.98454	0.655000	0.94253	TCC	.	.		0.582	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3		
GLYATL2	219970	hgsc.bcm.edu	37	11	58602018	58602018	+	Missense_Mutation	SNP	A	A	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr11:58602018A>C	ENST00000287275.1	-	6	1159	c.769T>G	c.(769-771)Tat>Gat	p.Y257D	GLYATL2_ENST00000532258.1_Missense_Mutation_p.Y257D|GLYATL2_ENST00000533636.1_5'Flank	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	257						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	ACATGGAAATAAAATGGGATT	0.403																																					p.Y257D		Atlas-SNP	.											.	GLYATL2	40	.	0			c.T769G						.						96.0	91.0	93.0					11																	58602018		1862	4102	5964	SO:0001583	missense	219970	exon6			GGAAATAAAATGG	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.769T>G	chr11.hg19:g.58602018A>C	ENSP00000287275:p.Tyr257Asp	74.0	0.0		75.0	15.0	NM_145016	A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	ENST00000287275.1	hg19	CCDS41649.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.788922	0.49997	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.18016	2.24;2.24	3.65	3.65	0.41850	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	0.215315	0.30714	U	0.009036	T	0.38321	0.1036	M	0.78916	2.43	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.11518	-1.0584	10	0.72032	D	0.01	.	8.7865	0.34823	1.0:0.0:0.0:0.0	.	257	Q8WU03	GLYL2_HUMAN	D	257	ENSP00000287275:Y257D;ENSP00000434277:Y257D	ENSP00000287275:Y257D	Y	-	1	0	GLYATL2	58358594	0.149000	0.22717	0.050000	0.19076	0.332000	0.28634	2.008000	0.40893	1.321000	0.45227	0.467000	0.42956	TAT	.	.		0.403	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016	
PLA2G16	11145	hgsc.bcm.edu	37	11	63365558	63365558	+	Silent	SNP	T	T	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr11:63365558T>C	ENST00000323646.5	-	2	447	c.93A>G	c.(91-93)ggA>ggG	p.G31G	PLA2G16_ENST00000415826.1_Silent_p.G31G|PLA2G16_ENST00000394613.3_5'UTR	NM_007069.3	NP_009000.2	P53816	HRSL3_HUMAN	phospholipase A2, group XVI	31					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|negative regulation of cell cycle (GO:0045786)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	1-acyl-2-lysophosphatidylserine acylhydrolase activity (GO:0052740)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phosphatidylserine 1-acylhydrolase activity (GO:0052739)|phospholipase A2 activity (GO:0004623)			kidney(2)|lung(1)|ovary(1)|skin(1)	5						GAACCACATATCCATCGCCAA	0.547																																					p.G31G		Atlas-SNP	.											.	PLA2G16	12	.	0			c.A93G						.						122.0	99.0	107.0					11																	63365558		2201	4298	6499	SO:0001819	synonymous_variant	11145	exon3			CACATATCCATCG	X92814	CCDS8047.1	11q12.3	2014-03-14	2008-09-19	2008-09-19	ENSG00000176485	ENSG00000176485	3.1.1.4		17825	protein-coding gene	gene with protein product	"""adipose-specific PLA2"""	613867	"""HRAS-like suppressor 3"""	HRASLS3		9771974, 18614531	Standard	NM_007069		Approved	HREV107, H-REV107-1, HREV107-3, MGC118754., AdPLA	uc009you.1	P53816	OTTHUMG00000167852	ENST00000323646.5:c.93A>G	chr11.hg19:g.63365558T>C		268.0	0.0		271.0	42.0	NM_001128203	B2R7Q4|B7XAK5|Q3SYI3|Q9HDD1	Silent	SNP	ENST00000323646.5	hg19	CCDS8047.1																																																																																			.	.		0.547	PLA2G16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396632.1	NM_001128203	
WNT1	7471	hgsc.bcm.edu	37	12	49374980	49374980	+	Missense_Mutation	SNP	T	T	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr12:49374980T>C	ENST00000293549.3	+	4	706	c.670T>C	c.(670-672)Tcc>Ccc	p.S224P		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	224					bone development (GO:0060348)|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)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CCACGGGATGTCCGGCTCATG	0.687																																					p.S224P		Atlas-SNP	.											.	WNT1	13	.	0			c.T670C						.						28.0	26.0	26.0					12																	49374980		2177	4263	6440	SO:0001583	missense	7471	exon4			GGGATGTCCGGCT	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.670T>C	chr12.hg19:g.49374980T>C	ENSP00000293549:p.Ser224Pro	189.0	0.0		242.0	28.0	NM_005430	Q5U0N2	Missense_Mutation	SNP	ENST00000293549.3	hg19	CCDS8776.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.496640	0.85069	.	.	ENSG00000125084	ENST00000293549;ENST00000380414	D	0.83992	-1.79	4.44	4.44	0.53790	Secreted growth factor Wnt protein, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.93449	0.7910	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95074	0.8207	10	0.87932	D	0	.	13.1023	0.59226	0.0:0.0:0.0:1.0	.	224	P04628	WNT1_HUMAN	P	224;60	ENSP00000293549:S224P	ENSP00000293549:S224P	S	+	1	0	WNT1	47661247	1.000000	0.71417	0.996000	0.52242	0.872000	0.50106	7.814000	0.86154	1.997000	0.58415	0.533000	0.62120	TCC	.	.		0.687	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1		
OR6C68	403284	hgsc.bcm.edu	37	12	55886941	55886941	+	Silent	SNP	A	A	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr12:55886941A>G	ENST00000548615.1	+	1	780	c.780A>G	c.(778-780)ccA>ccG	p.P260P	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000379662.1_Silent_p.P265P	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						ATATCAAGCCATCTGCAAAAG	0.353																																					p.P260P		Atlas-SNP	.											.	OR6C68	36	.	0			c.A780G						.						72.0	74.0	73.0					12																	55886941		2203	4300	6503	SO:0001819	synonymous_variant	403284	exon1			CAAGCCATCTGCA		CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"""GPCR / Class A : Olfactory receptors"""	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.780A>G	chr12.hg19:g.55886941A>G		109.0	0.0		76.0	15.0	NM_001005519		Silent	SNP	ENST00000548615.1	hg19	CCDS31826.2																																																																																			.	.		0.353	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406677.1		
OR6C4	341418	hgsc.bcm.edu	37	12	55945800	55945800	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr12:55945800G>T	ENST00000394256.2	+	1	818	c.790G>T	c.(790-792)Gaa>Taa	p.E264*	RP11-110A12.2_ENST00000555138.1_RNA|AC009779.1_ENST00000584743.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TTCTGCAAAAGAAGGAGGTGC	0.403																																					p.E264X		Atlas-SNP	.											.	OR6C4	34	.	0			c.G790T						.						101.0	90.0	94.0					12																	55945800		2203	4300	6503	SO:0001587	stop_gained	341418	exon1			GCAAAAGAAGGAG	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.790G>T	chr12.hg19:g.55945800G>T	ENSP00000377799:p.Glu264*	104.0	0.0		85.0	6.0	NM_001005494	A8MZG7|B2RNN2|Q6IFK1	Nonsense_Mutation	SNP	ENST00000394256.2	hg19	CCDS31827.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370866	0.82573	.	.	ENSG00000179626	ENST00000394256	.	.	.	4.8	2.96	0.34315	.	0.310695	0.23076	N	0.052206	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	7.5657	0.27876	0.197:0.0:0.803:0.0	.	.	.	.	X	264	.	ENSP00000377799:E264X	E	+	1	0	OR6C4	54232067	0.000000	0.05858	0.836000	0.33094	0.994000	0.84299	-0.457000	0.06745	0.740000	0.32651	0.556000	0.70494	GAA	.	.		0.403	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1		
DCTN2	10540	hgsc.bcm.edu	37	12	57929270	57929270	+	Missense_Mutation	SNP	C	C	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr12:57929270C>A	ENST00000548249.1	-	4	528	c.261G>T	c.(259-261)gaG>gaT	p.E87D	DCTN2_ENST00000543672.1_Missense_Mutation_p.E92D|DCTN2_ENST00000537439.1_Missense_Mutation_p.E64D|DCTN2_ENST00000434715.3_Missense_Mutation_p.E92D|DCTN2_ENST00000551400.1_5'UTR	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	87					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						AACAAACCATCTCATATTCTC	0.453																																					p.E89D		Atlas-SNP	.											.	DCTN2	51	.	0			c.G267T						.						135.0	129.0	131.0					12																	57929270		1931	4135	6066	SO:0001583	missense	10540	exon4			AACCATCTCATAT	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.261G>T	chr12.hg19:g.57929270C>A	ENSP00000447824:p.Glu87Asp	82.0	0.0		87.0	11.0	NM_001261412	B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	ENST00000548249.1	hg19	CCDS58245.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826141	0.71143	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000550086;ENST00000550954;ENST00000546670;ENST00000550750	.	.	.	5.22	3.38	0.38709	.	0.000000	0.85682	D	0.000000	T	0.64886	0.2639	L	0.59912	1.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	T	0.62177	-0.6909	9	0.24483	T	0.36	-16.0905	5.3373	0.15965	0.0:0.6489:0.0:0.3511	.	87;92;87	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	D	87;92;92;64;87;52;101;87;64	.	ENSP00000346785:E87D	E	-	3	2	DCTN2	56215537	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	0.264000	0.18497	1.557000	0.49525	0.655000	0.94253	GAG	.	.		0.453	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400	
TSPAN31	6302	hgsc.bcm.edu	37	12	58141073	58141073	+	Nonstop_Mutation	SNP	A	A	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr12:58141073A>G	ENST00000257910.3	+	6	907	c.633A>G	c.(631-633)tgA>tgG	p.*211W	TSPAN31_ENST00000547472.1_Nonstop_Mutation_p.*128W|CDK4_ENST00000551888.1_5'Flank|TSPAN31_ENST00000547992.1_Nonstop_Mutation_p.*127W	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	0					positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CCTTTCTATGAGACTTTGGAT	0.438																																					p.X211W		Atlas-SNP	.											.	TSPAN31	20	.	0			c.A633G						.						110.0	105.0	107.0					12																	58141073		2203	4300	6503	SO:0001578	stop_lost	6302	exon6			TCTATGAGACTTT		CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"""Tetraspanins"""	10539	protein-coding gene	gene with protein product		181035	"""sarcoma amplified sequence"""	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999		ENST00000257910.3:c.633A>G	chr12.hg19:g.58141073A>G	ENSP00000257910:p.*211Trpext*6	59.0	0.0		68.0	7.0	NM_005981	O00577|Q53X76	Missense_Mutation	SNP	ENST00000257910.3	hg19	CCDS8952.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080989	0.76528	.	.	ENSG00000135452	ENST00000257910;ENST00000547992;ENST00000547472	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6273	0.51153	1.0:0.0:0.0:0.0	.	.	.	.	W	211;127;128	.	.	X	+	3	0	TSPAN31	56427340	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.291000	0.65667	2.317000	0.78254	0.459000	0.35465	TGA	.	.		0.438	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1		
C12orf74	338809	hgsc.bcm.edu	37	12	93100546	93100546	+	Missense_Mutation	SNP	A	A	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr12:93100546A>T	ENST00000397833.3	+	2	590	c.139A>T	c.(139-141)Acc>Tcc	p.T47S	C12orf74_ENST00000544406.2_Missense_Mutation_p.T47S	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	47										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCGCATCTCCACCTCGCCCAC	0.637																																					p.T47S		Atlas-SNP	.											.	C12orf74	17	.	0			c.A139T						.						42.0	45.0	44.0					12																	93100546		1908	4119	6027	SO:0001583	missense	338809	exon2			ATCTCCACCTCGC	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.139A>T	chr12.hg19:g.93100546A>T	ENSP00000380933:p.Thr47Ser	109.0	0.0		113.0	15.0	NM_001037671	F5H4P0	Missense_Mutation	SNP	ENST00000397833.3	hg19	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151659	0.57151	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	T	0.48642	0.1511	L	0.27053	0.805	0.22266	N	0.999249	D;D	0.61080	0.989;0.989	D;D	0.64776	0.929;0.929	T	0.38286	-0.9668	8	0.87932	D	0	.	10.9752	0.47461	1.0:0.0:0.0:0.0	.	47;47	F5H4P0;Q32Q52	.;CL074_HUMAN	S	47	.	ENSP00000380933:T47S	T	+	1	0	C12orf74	91624677	0.039000	0.19947	0.777000	0.31699	0.124000	0.20399	2.927000	0.48900	2.090000	0.63153	0.379000	0.24179	ACC	.	.		0.637	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671	
DAO	1610	hgsc.bcm.edu	37	12	109283310	109283310	+	Missense_Mutation	SNP	C	C	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr12:109283310C>A	ENST00000228476.3	+	4	579	c.375C>A	c.(373-375)ttC>ttA	p.F125L	DAO_ENST00000551281.1_Intron	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	125					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	TGGATATGTTCCCAGATTACG	0.557																																					p.F125L		Atlas-SNP	.											DAO,right_lower_lobe,carcinoma,0,1	DAO	58	.	0			c.C375A						.						85.0	78.0	80.0					12																	109283310		2203	4300	6503	SO:0001583	missense	1610	exon4			TATGTTCCCAGAT	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.375C>A	chr12.hg19:g.109283310C>A	ENSP00000228476:p.Phe125Leu	97.0	0.0		125.0	11.0	NM_001917	B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	hg19	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141493	0.37825	.	.	ENSG00000110887	ENST00000228476;ENST00000547768;ENST00000547166	T;T;T	0.79141	-1.24;1.04;-1.24	6.17	1.59	0.23543	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	T	0.75613	0.3873	L	0.58583	1.82	0.58432	D	0.999991	D	0.53619	0.961	P	0.52598	0.703	T	0.70930	-0.4738	10	0.10636	T	0.68	-7.7819	9.5736	0.39442	0.0:0.5466:0.0:0.4534	.	125	P14920	OXDA_HUMAN	L	125;2;125	ENSP00000228476:F125L;ENSP00000449967:F2L;ENSP00000447104:F125L	ENSP00000228476:F125L	F	+	3	2	DAO	107807439	0.928000	0.31464	0.999000	0.59377	0.122000	0.20287	-0.097000	0.11042	0.406000	0.25560	-0.137000	0.14449	TTC	.	.		0.557	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1		
WDR66	144406	hgsc.bcm.edu	37	12	122396358	122396358	+	Missense_Mutation	SNP	C	C	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr12:122396358C>A	ENST00000288912.4	+	12	2765	c.1911C>A	c.(1909-1911)aaC>aaA	p.N637K	WDR66_ENST00000397454.2_Missense_Mutation_p.N637K	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	637							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ATTATGAAAACAAACAATATC	0.473																																					p.N637K	Esophageal Squamous(85;849 1794 49757 52143)	Atlas-SNP	.											.	WDR66	143	.	0			c.C1911A						.						222.0	217.0	219.0					12																	122396358		1886	4109	5995	SO:0001583	missense	144406	exon12			TGAAAACAAACAA	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1911C>A	chr12.hg19:g.122396358C>A	ENSP00000288912:p.Asn637Lys	111.0	0.0		139.0	17.0	NM_001178003	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	hg19	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.159081	0.00321	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.63580	1.01;-0.05	5.26	1.12	0.20585	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.899953	0.09985	N	0.730460	T	0.25531	0.0621	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25882	-1.0119	10	0.02654	T	1	.	7.7989	0.29164	0.0712:0.5268:0.2895:0.1125	.	637	Q8TBY9	WDR66_HUMAN	K	637	ENSP00000288912:N637K;ENSP00000380595:N637K	ENSP00000288912:N637K	N	+	3	2	WDR66	120880741	0.001000	0.12720	0.030000	0.17652	0.470000	0.32858	-0.169000	0.09911	0.147000	0.19030	-0.280000	0.10049	AAC	.	.		0.473	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668	
DNAH10	196385	hgsc.bcm.edu	37	12	124402197	124402197	+	Missense_Mutation	SNP	A	A	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr12:124402197A>G	ENST00000409039.3	+	63	10740	c.10715A>G	c.(10714-10716)gAg>gGg	p.E3572G		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3572	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CGGGAGCTGGAGGAGCAGCGG	0.647																																					p.E3572G		Atlas-SNP	.											.	DNAH10	888	.	0			c.A10715G						.						26.0	36.0	33.0					12																	124402197		1997	4003	6000	SO:0001583	missense	196385	exon63			AGCTGGAGGAGCA	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10715A>G	chr12.hg19:g.124402197A>G	ENSP00000386770:p.Glu3572Gly	110.0	0.0		166.0	28.0	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	hg19	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483714	0.84854	.	.	ENSG00000197653	ENST00000409039	T	0.32272	1.46	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.68997	0.3062	H	0.96777	3.88	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.80946	-0.1155	10	0.87932	D	0	.	14.8445	0.70251	1.0:0.0:0.0:0.0	.	3572	Q8IVF4	DYH10_HUMAN	G	3572	ENSP00000386770:E3572G	ENSP00000386770:E3572G	E	+	2	0	DNAH10	122968150	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	9.233000	0.95337	1.934000	0.56057	0.260000	0.18958	GAG	.	.		0.647	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
FBRSL1	57666	hgsc.bcm.edu	37	12	133102386	133102386	+	Missense_Mutation	SNP	A	A	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr12:133102386A>T	ENST00000434748.2	+	3	1576	c.556A>T	c.(556-558)Agc>Tgc	p.S186C	FBRSL1_ENST00000261673.6_Missense_Mutation_p.S113C	NM_001142641.1	NP_001136113.1	Q9HCM7	FBSL_HUMAN	fibrosin-like 1	186							poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(1)|stomach(1)	4						CGAAGCCACCAGCTCCCGGGA	0.682																																					p.S186C		Atlas-SNP	.											.	FBRSL1	47	.	0			c.A556T						.						55.0	61.0	59.0					12																	133102386		692	1591	2283	SO:0001583	missense	57666	exon3			GCCACCAGCTCCC		CCDS45010.1	12q24.33	2008-12-09			ENSG00000112787	ENSG00000112787			29308	protein-coding gene	gene with protein product						10997877	Standard	NM_001142641		Approved	KIAA1545	uc001ukf.3	Q9HCM7	OTTHUMG00000167991	ENST00000434748.2:c.556A>T	chr12.hg19:g.133102386A>T	ENSP00000396160:p.Ser186Cys	147.0	0.0		185.0	27.0	NM_001142641	Q86XQ1	Missense_Mutation	SNP	ENST00000434748.2	hg19	CCDS45010.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.233510	0.79688	.	.	ENSG00000112787	ENST00000434748;ENST00000261673	T;T	0.37411	1.2;1.21	4.51	4.51	0.55191	.	.	.	.	.	T	0.52980	0.1768	L	0.55481	1.735	0.30759	N	0.744296	D	0.89917	1.0	D	0.85130	0.997	T	0.55927	-0.8063	9	0.66056	D	0.02	.	10.2404	0.43308	1.0:0.0:0.0:0.0	.	186	Q9HCM7	FBSL_HUMAN	C	186;113	ENSP00000396160:S186C;ENSP00000261673:S113C	ENSP00000261673:S113C	S	+	1	0	FBRSL1	131612459	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	3.024000	0.49674	1.677000	0.50941	0.379000	0.24179	AGC	.	.		0.682	FBRSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397404.2		
SLITRK5	26050	hgsc.bcm.edu	37	13	88328465	88328465	+	Missense_Mutation	SNP	C	C	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr13:88328465C>A	ENST00000325089.6	+	2	1041	c.822C>A	c.(820-822)gaC>gaA	p.D274E	SLITRK5_ENST00000400028.3_Missense_Mutation_p.D33E	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	274	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACGGAAGGGACTTGGACGAGG	0.522																																					p.D274E		Atlas-SNP	.											.	SLITRK5	192	.	0			c.C822A						.						83.0	84.0	84.0					13																	88328465		2203	4300	6503	SO:0001583	missense	26050	exon2			AAGGGACTTGGAC	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.822C>A	chr13.hg19:g.88328465C>A	ENSP00000366283:p.Asp274Glu	93.0	0.0		121.0	17.0	NM_015567	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	hg19	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341555	0.41498	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.57436	0.4;0.4	5.76	3.0	0.34707	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	M	0.67700	2.07	0.37937	D	0.932184	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.991	T	0.64521	-0.6388	9	.	.	.	-22.7635	7.2612	0.26203	0.0:0.6333:0.0:0.3667	.	33;274	B4DSH5;O94991	.;SLIK5_HUMAN	E	274;33	ENSP00000366283:D274E;ENSP00000442244:D33E	.	D	+	3	2	SLITRK5	87126466	0.306000	0.24490	0.998000	0.56505	0.967000	0.64934	0.274000	0.18680	0.312000	0.23038	0.491000	0.48974	GAC	.	.		0.522	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3		
LRFN5	145581	hgsc.bcm.edu	37	14	42356745	42356745	+	Missense_Mutation	SNP	T	T	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr14:42356745T>C	ENST00000298119.4	+	3	2106	c.917T>C	c.(916-918)cTg>cCg	p.L306P	LRFN5_ENST00000554171.1_Missense_Mutation_p.L306P|LRFN5_ENST00000554120.1_Missense_Mutation_p.L306P	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	306	Ig-like.					integral component of membrane (GO:0016021)		p.L306P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGGGCAACACTGAGGTGCAAA	0.458										HNSCC(30;0.082)																											p.L306P		Atlas-SNP	.											LRFN5,NS,carcinoma,0,1	LRFN5	269	.	1	Substitution - Missense(1)	endometrium(1)	c.T917C						.						115.0	109.0	111.0					14																	42356745		2203	4300	6503	SO:0001583	missense	145581	exon3			CAACACTGAGGTG	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.917T>C	chr14.hg19:g.42356745T>C	ENSP00000298119:p.Leu306Pro	130.0	0.0		122.0	15.0	NM_152447	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	hg19	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.198632	0.58126	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.75477	-0.94;-0.94;-0.94	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43919	D	0.000502	D	0.91888	0.7432	H	0.99182	4.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94763	0.7938	10	0.87932	D	0	.	13.6708	0.62424	0.0:0.0:0.0:1.0	.	306;306	G3V364;Q96NI6	.;LRFN5_HUMAN	P	306	ENSP00000298119:L306P;ENSP00000451897:L306P;ENSP00000451067:L306P	ENSP00000298119:L306P	L	+	2	0	LRFN5	41426495	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.997000	0.88414	2.165000	0.68154	0.460000	0.39030	CTG	.	.		0.458	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
DNAAF2	55172	hgsc.bcm.edu	37	14	50100800	50100800	+	Missense_Mutation	SNP	C	C	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr14:50100800C>A	ENST00000298292.8	-	1	1148	c.1068G>T	c.(1066-1068)gaG>gaT	p.E356D	DNAAF2_ENST00000406043.3_Missense_Mutation_p.E356D	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	356					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						cgacagcgggctcccggcgcg	0.746																																					p.E356D		Atlas-SNP	.											.	DNAAF2	47	.	0			c.G1068T						.						1.0	1.0	1.0					14																	50100800		947	2322	3269	SO:0001583	missense	55172	exon1			AGCGGGCTCCCGG	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1068G>T	chr14.hg19:g.50100800C>A	ENSP00000298292:p.Glu356Asp	5.0	0.0		10.0	6.0	NM_018139	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	hg19	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815110	0.32053	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.19250	2.16;2.43	4.1	-6.19	0.02078	.	.	.	.	.	T	0.08358	0.0208	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36089	-0.9762	9	0.18276	T	0.48	.	1.5215	0.02517	0.1963:0.1356:0.3649:0.3033	.	356;356	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	D	356	ENSP00000298292:E356D;ENSP00000384862:E356D	ENSP00000298292:E356D	E	-	3	2	DNAAF2	49170550	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	-0.250000	0.08830	-1.195000	0.02680	-0.459000	0.05422	GAG	.	.		0.746	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1		
YLPM1	56252	hgsc.bcm.edu	37	14	75245225	75245225	+	Missense_Mutation	SNP	A	A	G	rs376895690		TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr14:75245225A>G	ENST00000552421.1	+	2	1073	c.949A>G	c.(949-951)Aaa>Gaa	p.K317E	YLPM1_ENST00000325680.7_Missense_Mutation_p.K317E|YLPM1_ENST00000238571.3_Missense_Mutation_p.K317E			P49750	YLPM1_HUMAN	YLP motif containing 1	317					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCCAGGACACAAAAAGGGTCC	0.438																																					p.K317E		Atlas-SNP	.											.	YLPM1	298	.	0			c.A949G						.	A	GLU/LYS	1,3767		0,1,1883	65.0	66.0	66.0		949	5.4	1.0	14		66	0,8212		0,0,4106	no	missense	YLPM1	NM_019589.2	56	0,1,5989	GG,GA,AA		0.0,0.0265,0.0083	possibly-damaging	317/2147	75245225	1,11979	1884	4106	5990	SO:0001583	missense	56252	exon2			GGACACAAAAAGG	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.949A>G	chr14.hg19:g.75245225A>G	ENSP00000447921:p.Lys317Glu	242.0	0.0		235.0	43.0	NM_019589	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	hg19		.	.	.	.	.	.	.	.	.	.	A	15.04	2.714104	0.48622	2.65E-4	0.0	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	T;T;T	0.22539	1.95;1.95;1.95	5.42	5.42	0.78866	.	0.175257	0.40469	N	0.001087	T	0.10637	0.0260	N	0.14661	0.345	0.23802	N	0.996808	P	0.39480	0.675	B	0.33454	0.164	T	0.20940	-1.0260	10	0.08837	T	0.75	-10.6533	14.0466	0.64708	1.0:0.0:0.0:0.0	.	317	P49750-4	.	E	317;317;317;30	ENSP00000447921:K317E;ENSP00000324463:K317E;ENSP00000238571:K317E	ENSP00000238571:K317E	K	+	1	0	YLPM1	74314978	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.364000	0.44187	2.050000	0.60909	0.482000	0.46254	AAA	.	.		0.438	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589	
NEK9	91754	hgsc.bcm.edu	37	14	75567697	75567697	+	Missense_Mutation	SNP	T	T	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr14:75567697T>G	ENST00000238616.5	-	16	2158	c.2000A>C	c.(1999-2001)gAt>gCt	p.D667A		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	667					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AGACTCACCATCAGTGGCAGC	0.468																																					p.D667A		Atlas-SNP	.											.	NEK9	64	.	0			c.A2000C						.						95.0	90.0	92.0					14																	75567697		2203	4300	6503	SO:0001583	missense	91754	exon16			TCACCATCAGTGG	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2000A>C	chr14.hg19:g.75567697T>G	ENSP00000238616:p.Asp667Ala	80.0	0.0		60.0	5.0	NM_033116	Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	hg19	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	T	9.963	1.223341	0.22457	.	.	ENSG00000119638	ENST00000238616	T	0.80738	-1.41	5.42	5.42	0.78866	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.206143	0.49305	D	0.000142	T	0.62356	0.2421	N	0.12182	0.205	0.41644	D	0.989092	B;B	0.28082	0.0;0.2	B;B	0.28465	0.0;0.09	T	0.60073	-0.7334	10	0.08837	T	0.75	.	11.4589	0.50197	0.0:0.0:0.1504:0.8496	.	667;10	Q8TD19;Q6PKF2	NEK9_HUMAN;.	A	667	ENSP00000238616:D667A	ENSP00000238616:D667A	D	-	2	0	NEK9	74637450	1.000000	0.71417	0.990000	0.47175	0.975000	0.68041	5.024000	0.64090	2.056000	0.61249	0.460000	0.39030	GAT	.	.		0.468	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116	
PSMC1	5700	hgsc.bcm.edu	37	14	90730490	90730490	+	Missense_Mutation	SNP	G	G	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr14:90730490G>A	ENST00000261303.8	+	6	674	c.571G>A	c.(571-573)Gac>Aac	p.D191N	PSMC1_ENST00000543772.2_Missense_Mutation_p.D118N	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	191					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		TGGGGGGTTGGACAACCAAAT	0.468																																					p.D191N		Atlas-SNP	.											.	PSMC1	27	.	0			c.G571A						.						50.0	51.0	51.0					14																	90730490		2203	4300	6503	SO:0001583	missense	5700	exon6			GGGTTGGACAACC	L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.571G>A	chr14.hg19:g.90730490G>A	ENSP00000261303:p.Asp191Asn	91.0	0.0		86.0	12.0	NM_002802	B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Missense_Mutation	SNP	ENST00000261303.8	hg19	CCDS32139.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633849	0.87660	.	.	ENSG00000100764	ENST00000261303;ENST00000553835;ENST00000543772	D;D;D	0.95518	-3.71;-3.73;-3.71	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.96642	0.8904	M	0.87617	2.895	0.80722	D	1	P	0.48911	0.917	P	0.46275	0.51	D	0.97403	0.9997	10	0.87932	D	0	-18.9112	19.3931	0.94592	0.0:0.0:1.0:0.0	.	191	P62191	PRS4_HUMAN	N	191;28;118	ENSP00000261303:D191N;ENSP00000452049:D28N;ENSP00000445147:D118N	ENSP00000261303:D191N	D	+	1	0	PSMC1	89800243	1.000000	0.71417	0.988000	0.46212	0.486000	0.33341	9.712000	0.98738	2.669000	0.90835	0.655000	0.94253	GAC	.	.		0.468	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1	NM_002802	
FSIP1	161835	hgsc.bcm.edu	37	15	40031879	40031879	+	Missense_Mutation	SNP	T	T	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr15:40031879T>C	ENST00000350221.3	-	7	976	c.767A>G	c.(766-768)aAg>aGg	p.K256R	FSIP1_ENST00000559692.1_5'UTR	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	256										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AATGTTTCTCTTAATAAAATC	0.338																																					p.K256R		Atlas-SNP	.											.	FSIP1	53	.	0			c.A767G						.						98.0	95.0	96.0					15																	40031879		2202	4295	6497	SO:0001583	missense	161835	exon7			TTTCTCTTAATAA	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.767A>G	chr15.hg19:g.40031879T>C	ENSP00000280236:p.Lys256Arg	30.0	0.0		25.0	6.0	NM_152597	Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	hg19	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.321961	0.81580	.	.	ENSG00000150667	ENST00000350221	T	0.32988	1.43	5.77	5.77	0.91146	.	0.226724	0.35495	N	0.003170	T	0.47820	0.1466	M	0.62723	1.935	0.32348	N	0.558787	D	0.69078	0.997	P	0.60949	0.881	T	0.60276	-0.7295	9	.	.	.	-13.615	12.4875	0.55881	0.0:0.0:0.0:1.0	.	256	Q8NA03	FSIP1_HUMAN	R	256	ENSP00000280236:K256R	.	K	-	2	0	FSIP1	37819171	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.948000	0.56660	2.199000	0.70637	0.533000	0.62120	AAG	.	.		0.338	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597	
TCF12	6938	hgsc.bcm.edu	37	15	57212181	57212181	+	Missense_Mutation	SNP	A	A	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr15:57212181A>G	ENST00000267811.5	+	2	374	c.70A>G	c.(70-72)Agt>Ggt	p.S24G	TCF12_ENST00000438423.2_Missense_Mutation_p.S24G|TCF12_ENST00000333725.5_Missense_Mutation_p.S24G|TCF12_ENST00000452095.2_Missense_Mutation_p.S24G|ZNF280D_ENST00000559000.1_5'Flank|ZNF280D_ENST00000561122.1_5'Flank|TCF12_ENST00000557843.1_Missense_Mutation_p.S24G	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	24					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ACTGGACTTCAGTGCGGTATG	0.502			T	TEC	extraskeletal myxoid chondrosarcoma																																p.S24G		Atlas-SNP	.		Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	.	TCF12	242	.	0			c.A70G						.						182.0	169.0	174.0					15																	57212181		2192	4292	6484	SO:0001583	missense	6938	exon2			GACTTCAGTGCGG	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.70A>G	chr15.hg19:g.57212181A>G	ENSP00000267811:p.Ser24Gly	149.0	0.0		143.0	20.0	NM_207036	Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	hg19	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238639	0.58995	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725	T;T;T;T	0.24350	1.88;1.86;1.91;1.86	4.1	2.95	0.34219	.	0.046714	0.85682	D	0.000000	T	0.34250	0.0891	M	0.67397	2.05	0.50467	D	0.99987	B;P;B;B	0.41450	0.323;0.75;0.171;0.263	P;B;B;B	0.48571	0.582;0.304;0.067;0.142	T	0.07829	-1.0752	10	0.72032	D	0.01	-4.9583	8.0529	0.30587	0.8187:0.0:0.0:0.1813	.	24;76;24;24	E9PGY0;F5H6Z6;Q99081;Q99081-3	.;.;HTF4_HUMAN;.	G	76;24;24;24;24	ENSP00000267811:S24G;ENSP00000388940:S24G;ENSP00000396881:S24G;ENSP00000331057:S24G	ENSP00000267811:S24G	S	+	1	0	TCF12	54999473	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.658000	0.83755	0.601000	0.29879	0.459000	0.35465	AGT	.	.		0.502	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	
ZNF592	9640	hgsc.bcm.edu	37	15	85327447	85327447	+	Missense_Mutation	SNP	G	G	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr15:85327447G>C	ENST00000560079.2	+	4	1829	c.1541G>C	c.(1540-1542)aGt>aCt	p.S514T	ZNF592_ENST00000299927.3_Missense_Mutation_p.S514T	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	514					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCCCCCACAGTGTTGCTGCA	0.582																																					p.S514T		Atlas-SNP	.											.	ZNF592	95	.	0			c.G1541C						.						63.0	50.0	54.0					15																	85327447		2203	4299	6502	SO:0001583	missense	9640	exon4			CCCACAGTGTTGC	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1541G>C	chr15.hg19:g.85327447G>C	ENSP00000452877:p.Ser514Thr	154.0	0.0		196.0	34.0	NM_014630	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	hg19	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657638	0.47467	.	.	ENSG00000166716	ENST00000299927	T	0.00625	6.14	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.01800	0.0057	L	0.29908	0.895	0.53688	D	0.99997	D	0.76494	0.999	D	0.73380	0.98	T	0.80446	-0.1379	10	0.31617	T	0.26	-15.2806	16.5914	0.84766	0.0:0.0:1.0:0.0	.	514	Q92610	ZN592_HUMAN	T	514	ENSP00000299927:S514T	ENSP00000299927:S514T	S	+	2	0	ZNF592	83128451	1.000000	0.71417	0.972000	0.41901	0.859000	0.49053	9.438000	0.97539	2.495000	0.84180	0.655000	0.94253	AGT	.	.		0.582	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630	
CACNA1H	8912	hgsc.bcm.edu	37	16	1254427	1254427	+	Missense_Mutation	SNP	C	C	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr16:1254427C>T	ENST00000348261.5	+	10	2668	c.2420C>T	c.(2419-2421)aCg>aTg	p.T807M	CACNA1H_ENST00000565831.1_Missense_Mutation_p.T807M|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Missense_Mutation_p.T807M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	807					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CTTGTCAACACGCTGAGCATG	0.647																																					p.T807M		Atlas-SNP	.											.	CACNA1H	317	.	0			c.C2420T						.						41.0	44.0	43.0					16																	1254427		2165	4260	6425	SO:0001583	missense	8912	exon10			TCAACACGCTGAG	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2420C>T	chr16.hg19:g.1254427C>T	ENSP00000334198:p.Thr807Met	192.0	0.0		307.0	59.0	NM_021098	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	hg19	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591890	0.66219	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97430	-4.38;-4.38	3.85	3.85	0.44370	.	0.000000	0.85682	D	0.000000	D	0.97829	0.9287	L	0.61036	1.89	0.49299	D	0.999776	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98648	1.0678	10	0.87932	D	0	.	14.9329	0.70929	0.0:1.0:0.0:0.0	.	807;807	O95180-2;O95180	.;CAC1H_HUMAN	M	807	ENSP00000334198:T807M;ENSP00000351401:T807M	ENSP00000334198:T807M	T	+	2	0	CACNA1H	1194428	1.000000	0.71417	0.945000	0.38365	0.340000	0.28889	5.691000	0.68249	1.992000	0.58205	0.491000	0.48974	ACG	.	.		0.647	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407	
MEFV	4210	hgsc.bcm.edu	37	16	3298983	3298983	+	Missense_Mutation	SNP	C	C	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr16:3298983C>T	ENST00000219596.1	-	4	1321	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	MEFV_ENST00000536379.1_Missense_Mutation_p.E217K|MEFV_ENST00000541159.1_Missense_Mutation_p.E217K|MEFV_ENST00000339854.4_Missense_Mutation_p.E248K	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	428	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TTCAGATGCTCCAGCTGCTTC	0.502																																					p.E428K		Atlas-SNP	.											.	MEFV	170	.	0			c.G1282A						.						146.0	134.0	138.0					16																	3298983		2197	4300	6497	SO:0001583	missense	4210	exon4			GATGCTCCAGCTG	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1282G>A	chr16.hg19:g.3298983C>T	ENSP00000219596:p.Glu428Lys	55.0	0.0		72.0	17.0	NM_000243	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	hg19	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681645	0.29872	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.5	3.56	0.40772	.	0.234539	0.30142	N	0.010311	T	0.39172	0.1068	L	0.38838	1.175	0.29396	N	0.862296	B	0.22541	0.071	B	0.20184	0.028	T	0.28744	-1.0034	10	0.30854	T	0.27	-18.0346	8.8	0.34903	0.0:0.8256:0.0:0.1744	.	428	O15553	MEFV_HUMAN	K	428;428;248;217;217;217	ENSP00000219596:E428K;ENSP00000339639:E248K;ENSP00000438711:E217K;ENSP00000445079:E217K	ENSP00000219596:E428K	E	-	1	0	MEFV	3238984	0.999000	0.42202	0.917000	0.36280	0.439000	0.31926	0.735000	0.26115	0.810000	0.34279	-0.244000	0.11960	GAG	.	.		0.502	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243	
DNAH3	55567	hgsc.bcm.edu	37	16	20981196	20981196	+	Silent	SNP	T	T	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr16:20981196T>C	ENST00000261383.3	-	52	8375	c.8376A>G	c.(8374-8376)ccA>ccG	p.P2792P	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2792	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGACAGGGCCTGGTGGGTTCT	0.597																																					p.P2792P		Atlas-SNP	.											.	DNAH3	1142	.	0			c.A8376G						.						147.0	127.0	134.0					16																	20981196		2201	4300	6501	SO:0001819	synonymous_variant	55567	exon52			AGGGCCTGGTGGG	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8376A>G	chr16.hg19:g.20981196T>C		109.0	0.0		143.0	26.0	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	hg19	CCDS10594.1																																																																																			.	.		0.597	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
PHKG2	5261	hgsc.bcm.edu	37	16	30760208	30760208	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr16:30760208A>T	ENST00000563588.1	+	2	306	c.67A>T	c.(67-69)Aag>Tag	p.K23*	PHKG2_ENST00000328273.7_Nonsense_Mutation_p.K23*|PHKG2_ENST00000424889.3_Nonsense_Mutation_p.K23*|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	23					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			GTTTTACCAGAAGTACGACCC	0.647																																					p.K23X		Atlas-SNP	.											.	PHKG2	29	.	0			c.A67T						.						21.0	16.0	18.0					16																	30760208		2146	4206	6352	SO:0001587	stop_gained	5261	exon2			TACCAGAAGTACG	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.67A>T	chr16.hg19:g.30760208A>T	ENSP00000455607:p.Lys23*	186.0	0.0		214.0	33.0	NM_001172432	A8K0C7|B4DEB7|E9PEU3|P11800	Nonsense_Mutation	SNP	ENST00000563588.1	hg19	CCDS10690.1	.	.	.	.	.	.	.	.	.	.	A	39	7.741128	0.98465	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	.	.	.	5.38	5.38	0.77491	.	0.000000	0.40064	U	0.001181	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.7362	14.4183	0.67165	1.0:0.0:0.0:0.0	.	.	.	.	X	23	.	ENSP00000329968:K23X	K	+	1	0	PHKG2	30667709	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.754000	0.91642	2.040000	0.60383	0.529000	0.55759	AAG	.	.		0.647	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294	
CTCF	10664	hgsc.bcm.edu	37	16	67655390	67655390	+	Missense_Mutation	SNP	A	A	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr16:67655390A>G	ENST00000264010.4	+	7	1697	c.1253A>G	c.(1252-1254)cAa>cGa	p.Q418R	CTCF_ENST00000401394.1_Missense_Mutation_p.Q90R	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	418					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q418R(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CGGTTTACCCAAAGTGGTACC	0.358																																					p.Q418R	Colon(175;1200 1966 6945 23069 27405)	Atlas-SNP	.											CTCF,brainstem,primitive_neuroectodermal_tumour-medulloblastoma,0,1	CTCF	193	.	1	Substitution - Missense(1)	central_nervous_system(1)	c.A1253G						.						112.0	103.0	106.0					16																	67655390		2198	4300	6498	SO:0001583	missense	10664	exon7			TTACCCAAAGTGG	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1253A>G	chr16.hg19:g.67655390A>G	ENSP00000264010:p.Gln418Arg	118.0	0.0		122.0	18.0	NM_006565	B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	hg19	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.875391	0.91664	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.07216	3.21;3.21	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000006	T	0.13841	0.0335	N	0.10685	0.025	0.80722	D	1	D	0.59357	0.985	D	0.74023	0.982	T	0.36672	-0.9738	10	0.51188	T	0.08	-3.3406	16.1946	0.82018	1.0:0.0:0.0:0.0	.	418	P49711	CTCF_HUMAN	R	418;90	ENSP00000264010:Q418R;ENSP00000384707:Q90R	ENSP00000264010:Q418R	Q	+	2	0	CTCF	66212891	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.339000	0.96797	2.228000	0.72767	0.528000	0.53228	CAA	.	.		0.358	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565	
TP53	7157	hgsc.bcm.edu	37	17	7576928	7576928	+	Splice_Site	SNP	T	T	C	rs397516439		TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr17:7576928T>C	ENST00000269305.4	-	9	1109		c.e9-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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)	TGGGCAGTGCTAGGAAAGAGG	0.493		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											.	Pancreas(47;798 1329 9957 10801)	Atlas-SNP	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53_ENST00000455263,NS,carcinoma,0,37	TP53	33396	.	38	Unknown(28)|Whole gene deletion(8)|Deletion - Frameshift(2)	lung(11)|upper_aerodigestive_tract(6)|breast(5)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|liver(2)|large_intestine(1)|stomach(1)|gastrointestinal_tract_(site_indeterminate)(1)|ovary(1)	c.920-2A>G						.						137.0	124.0	129.0					17																	7576928		2203	4300	6503	SO:0001630	splice_region_variant	7157	exon10	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;	CAGTGCTAGGAAA	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.920-2A>G	chr17.hg19:g.7576928T>C		173.0	1.0		193.0	38.0	NM_000546	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	8.085	0.773141	0.16051	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.71	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.665	0.28426	0.187:0.0:0.0:0.813	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517653	0.089000	0.21612	0.933000	0.37362	0.236000	0.25371	0.838000	0.27572	1.993000	0.58246	0.459000	0.35465	.	.	.		0.493	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron
MYH3	4621	hgsc.bcm.edu	37	17	10543955	10543955	+	Missense_Mutation	SNP	G	G	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr17:10543955G>T	ENST00000583535.1	-	20	2301	c.2214C>A	c.(2212-2214)gaC>gaA	p.D738E	MYH3_ENST00000226209.7_Missense_Mutation_p.D738E	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	738	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTTTCTTGCTGTCAATGAATT	0.438																																					p.D738E		Atlas-SNP	.											.	MYH3	227	.	0			c.C2214A						.						129.0	113.0	119.0					17																	10543955		2203	4300	6503	SO:0001583	missense	4621	exon20			CTTGCTGTCAATG		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2214C>A	chr17.hg19:g.10543955G>T	ENSP00000464317:p.Asp738Glu	119.0	0.0		124.0	5.0	NM_002470	Q15492	Missense_Mutation	SNP	ENST00000583535.1	hg19	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855849	0.71834	.	.	ENSG00000109063	ENST00000226209	T	0.73047	-0.71	5.74	4.77	0.60923	Myosin head, motor domain (2);	.	.	.	.	T	0.78861	0.4350	L	0.53671	1.685	0.41740	D	0.989603	P	0.43392	0.805	P	0.57371	0.819	T	0.79983	-0.1573	9	0.51188	T	0.08	.	15.3689	0.74548	0.0673:0.0:0.9327:0.0	.	738	P11055	MYH3_HUMAN	E	738	ENSP00000226209:D738E	ENSP00000226209:D738E	D	-	3	2	MYH3	10484680	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.705000	0.54823	1.568000	0.49683	0.561000	0.74099	GAC	.	.		0.438	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
PIP4K2B	8396	hgsc.bcm.edu	37	17	36955561	36955561	+	Silent	SNP	G	G	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr17:36955561G>A	ENST00000269554.3	-	1	597	c.117C>T	c.(115-117)agC>agT	p.S39S	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	39	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						GGATCGGCTCGCTGGCCCGGA	0.677																																					p.S39S		Atlas-SNP	.											.	PIP4K2B	35	.	0			c.C117T						.																																			SO:0001819	synonymous_variant	8396	exon1			CGGCTCGCTGGCC	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.117C>T	chr17.hg19:g.36955561G>A		58.0	0.0		74.0	17.0	NM_003559	Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	hg19	CCDS11329.1																																																																																			.	.		0.677	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559	
HOXB7	3217	hgsc.bcm.edu	37	17	46685442	46685442	+	Missense_Mutation	SNP	C	C	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr17:46685442C>T	ENST00000239165.7	-	2	514	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000494420.1_RNA|HOXB-AS3_ENST00000491264.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB7_ENST00000567101.2_5'UTR|HOXB-AS3_ENST00000467155.2_RNA	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	139					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						CTGGCGGCCTCGTTTGCGGTC	0.577																																					p.R139Q		Atlas-SNP	.											.	HOXB7	15	.	0			c.G416A						.						57.0	57.0	57.0					17																	46685442		2203	4300	6503	SO:0001583	missense	3217	exon2			CGGCCTCGTTTGC		CCDS11532.1	17q21.32	2013-05-22	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	5118	protein-coding gene	gene with protein product		142962	"""homeo box B7"""	HOX2, HOX2C		1973146, 1358459	Standard	NM_004502		Approved		uc002inv.3	P09629	OTTHUMG00000170231	ENST00000239165.7:c.416G>A	chr17.hg19:g.46685442C>T	ENSP00000239165:p.Arg139Gln	74.0	0.0		85.0	10.0	NM_004502	A8K3N8|Q15957|Q53FN3|Q96BQ6	Missense_Mutation	SNP	ENST00000239165.7	hg19	CCDS11532.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364794	0.61513	.	.	ENSG00000120087	ENST00000239165	D	0.97066	-4.23	4.58	4.58	0.56647	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000003	D	0.97945	0.9324	M	0.91717	3.235	0.51012	D	0.999903	P	0.46912	0.886	P	0.48425	0.577	D	0.99655	1.0992	10	0.87932	D	0	.	17.1969	0.86895	0.0:1.0:0.0:0.0	.	139	P09629	HXB7_HUMAN	Q	139	ENSP00000239165:R139Q	ENSP00000239165:R139Q	R	-	2	0	HOXB7	44040441	0.903000	0.30736	1.000000	0.80357	0.953000	0.61014	5.743000	0.68655	2.357000	0.79964	0.563000	0.77884	CGA	.	.		0.577	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358097.3		
STARD6	147323	hgsc.bcm.edu	37	18	51851176	51851176	+	Silent	SNP	T	T	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr18:51851176T>G	ENST00000581310.1	-	9	922	c.549A>C	c.(547-549)atA>atC	p.I183I	STARD6_ENST00000580990.2_Silent_p.I59I|STARD6_ENST00000307844.3_Silent_p.I183I			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	183	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TTTTTTCAATTATTGATGGGG	0.358																																					p.I183I		Atlas-SNP	.											.	STARD6	19	.	0			c.A549C						.						151.0	147.0	148.0					18																	51851176		2203	4300	6503	SO:0001819	synonymous_variant	147323	exon6			TTCAATTATTGAT	AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.549A>C	chr18.hg19:g.51851176T>G		111.0	0.0		118.0	10.0	NM_139171		Silent	SNP	ENST00000581310.1	hg19	CCDS11955.1																																																																																			.	.		0.358	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	NM_139171	
CD209	30835	hgsc.bcm.edu	37	19	7807945	7807945	+	Missense_Mutation	SNP	G	G	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr19:7807945G>T	ENST00000315599.7	-	7	1217	c.1195C>A	c.(1195-1197)Cca>Aca	p.P399T	CD209_ENST00000204801.8_Missense_Mutation_p.P355T|CD209_ENST00000301357.8_Missense_Mutation_p.P263T|CD209_ENST00000593821.1_Missense_Mutation_p.P263T|CD209_ENST00000394173.4_Missense_Mutation_p.P238T|CD209_ENST00000602261.1_Missense_Mutation_p.P307T|CD209_ENST00000394161.5_Missense_Mutation_p.P163T|CD209_ENST00000354397.6_Missense_Mutation_p.P393T|CD209_ENST00000593660.1_Missense_Mutation_p.P329T|CD209_ENST00000601951.1_Missense_Mutation_p.P375T|CD209_ENST00000315591.8_Missense_Mutation_p.P375T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	399					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GGGGGGTTTGGGGTGGCAGGG	0.502																																					p.P399T		Atlas-SNP	.											.	CD209	166	.	0			c.C1195A						.						83.0	88.0	87.0					19																	7807945		2203	4300	6503	SO:0001583	missense	30835	exon7			GGTTTGGGGTGGC	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.1195C>A	chr19.hg19:g.7807945G>T	ENSP00000315477:p.Pro399Thr	66.0	0.0		61.0	11.0	NM_021155	A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	hg19	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	G	6.878	0.531508	0.13127	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000394161	T;T;T;T;T;T	0.08984	4.07;4.46;4.05;4.01;4.12;3.03	3.27	1.11	0.20524	.	.	.	.	.	T	0.06781	0.0173	L	0.40543	1.245	0.09310	N	1	P;P;P;P;P;P;P;B;P;P;P	0.49635	0.829;0.926;0.573;0.573;0.893;0.573;0.893;0.295;0.573;0.573;0.573	B;P;B;B;P;B;P;B;B;B;B	0.45506	0.272;0.483;0.19;0.19;0.461;0.19;0.461;0.093;0.258;0.258;0.19	T	0.11842	-1.0571	9	0.06891	T	0.86	.	5.5963	0.17329	0.2604:0.0:0.7396:0.0	.	399;163;393;355;263;375;307;399;329;375;399	B2R907;Q9NNX6-4;Q9NNX6-2;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;.;CD209_HUMAN;.;.;.	T	399;393;375;355;307;263;163	ENSP00000315477:P399T;ENSP00000346373:P393T;ENSP00000315407:P375T;ENSP00000204801:P355T;ENSP00000301357:P263T;ENSP00000377716:P163T	ENSP00000204801:P355T	P	-	1	0	CD209	7713945	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.342000	0.07801	0.385000	0.24970	-0.448000	0.05591	CCA	.	.		0.502	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155	
MUC16	94025	hgsc.bcm.edu	37	19	9073366	9073366	+	Missense_Mutation	SNP	G	G	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr19:9073366G>A	ENST00000397910.4	-	3	14283	c.14080C>T	c.(14080-14082)Ctt>Ttt	p.L4694F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4696	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTAAGGCAAGTGGAATCTTT	0.478																																					p.L4694F		Atlas-SNP	.											.	MUC16	4315	.	0			c.C14080T						.						187.0	174.0	178.0					19																	9073366		1943	4157	6100	SO:0001583	missense	94025	exon3			AGGCAAGTGGAAT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14080C>T	chr19.hg19:g.9073366G>A	ENSP00000381008:p.Leu4694Phe	187.0	0.0		188.0	37.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	9.006	0.981229	0.18812	.	.	ENSG00000181143	ENST00000397910	T	0.36340	1.26	1.8	-3.39	0.04868	.	.	.	.	.	T	0.22085	0.0532	L	0.29908	0.895	.	.	.	D	0.58268	0.982	B	0.41332	0.354	T	0.29610	-1.0006	8	0.87932	D	0	.	7.0444	0.25038	0.0:0.0:0.3082:0.6918	.	4694	B5ME49	.	F	4694	ENSP00000381008:L4694F	ENSP00000381008:L4694F	L	-	1	0	MUC16	8934366	0.000000	0.05858	0.000000	0.03702	0.679000	0.39708	-2.894000	0.00707	-0.653000	0.05401	0.313000	0.20887	CTT	.	.		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
KEAP1	9817	hgsc.bcm.edu	37	19	10602442	10602442	+	Missense_Mutation	SNP	C	C	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr19:10602442C>A	ENST00000171111.5	-	3	1683	c.1136G>T	c.(1135-1137)gGc>gTc	p.G379V	KEAP1_ENST00000393623.2_Missense_Mutation_p.G379V|KEAP1_ENST00000588024.1_5'Flank|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	379					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GTTGTTCCTGCCGCCCACGGC	0.701																																					p.G379V		Atlas-SNP	.											.	KEAP1	182	.	0			c.G1136T						.						30.0	26.0	27.0					19																	10602442		2166	4243	6409	SO:0001583	missense	9817	exon3			TTCCTGCCGCCCA	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1136G>T	chr19.hg19:g.10602442C>A	ENSP00000171111:p.Gly379Val	75.0	0.0		112.0	14.0	NM_012289	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	hg19	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669347	0.67814	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.99494	-6.01;-6.01	5.77	5.77	0.91146	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96806	0.9593	10	0.87932	D	0	.	17.4866	0.87691	0.0:1.0:0.0:0.0	.	379	Q14145	KEAP1_HUMAN	V	379	ENSP00000171111:G379V;ENSP00000377245:G379V	ENSP00000171111:G379V	G	-	2	0	KEAP1	10463442	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	7.601000	0.82783	2.745000	0.94114	0.655000	0.94253	GGC	.	.		0.701	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289	
PIK3R2	5296	hgsc.bcm.edu	37	19	18279669	18279669	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr19:18279669G>T	ENST00000593731.1	+	15	2502	c.1942G>T	c.(1942-1944)Gag>Tag	p.E648*	PIK3R2_ENST00000222254.8_Nonsense_Mutation_p.E648*			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	648	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CCTCATCCGCGAGAGCAGCCA	0.652																																					p.E648X		Atlas-SNP	.											.	PIK3R2	48	.	0			c.G1942T						.						51.0	34.0	40.0					19																	18279669		2203	4299	6502	SO:0001587	stop_gained	5296	exon15			ATCCGCGAGAGCA		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1942G>T	chr19.hg19:g.18279669G>T	ENSP00000471914:p.Glu648*	165.0	0.0		217.0	30.0	NM_005027	Q5EAT5|Q9UPH9	Nonsense_Mutation	SNP	ENST00000593731.1	hg19	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	G	44	10.678555	0.99448	.	.	ENSG00000105647	ENST00000222254	.	.	.	3.83	3.83	0.44106	.	0.061318	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-29.5935	15.572	0.76345	0.0:0.0:1.0:0.0	.	.	.	.	X	648	.	ENSP00000222254:E648X	E	+	1	0	PIK3R2	18140669	1.000000	0.71417	0.995000	0.50966	0.817000	0.46193	7.875000	0.87205	2.091000	0.63221	0.313000	0.20887	GAG	.	.		0.652	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027	
ZNF536	9745	hgsc.bcm.edu	37	19	31040266	31040266	+	Missense_Mutation	SNP	G	G	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr19:31040266G>T	ENST00000355537.3	+	4	3887	c.3740G>T	c.(3739-3741)gGc>gTc	p.G1247V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1247					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCTTGGCGGGCCTGCCAAAG	0.627																																					p.G1247V		Atlas-SNP	.											.	ZNF536	424	.	0			c.G3740T						.						18.0	19.0	19.0					19																	31040266		2200	4290	6490	SO:0001583	missense	9745	exon4			TGGCGGGCCTGCC		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3740G>T	chr19.hg19:g.31040266G>T	ENSP00000347730:p.Gly1247Val	81.0	0.0		85.0	17.0	NM_014717	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	hg19	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092769	0.36952	.	.	ENSG00000198597	ENST00000355537	T	0.11821	2.74	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	L	0.32530	0.975	0.80722	D	1	P;P	0.50066	0.883;0.931	P;P	0.47402	0.546;0.546	T	0.00641	-1.1631	10	0.87932	D	0	-28.0219	10.3603	0.43989	0.1523:0.0:0.8477:0.0	.	1247;1247	A7E228;O15090	.;ZN536_HUMAN	V	1247	ENSP00000347730:G1247V	ENSP00000347730:G1247V	G	+	2	0	ZNF536	35732106	1.000000	0.71417	0.895000	0.35142	0.258000	0.26162	4.504000	0.60414	2.401000	0.81631	0.650000	0.86243	GGC	.	.		0.627	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
ATP4A	495	hgsc.bcm.edu	37	19	36048727	36048727	+	Missense_Mutation	SNP	T	T	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr19:36048727T>A	ENST00000262623.3	-	11	1551	c.1523A>T	c.(1522-1524)gAc>gTc	p.D508V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	508					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GTCCCGCGGGTCCTCCAGCGT	0.716																																					p.D508V		Atlas-SNP	.											.	ATP4A	123	.	0			c.A1523T						.						8.0	10.0	9.0					19																	36048727		2065	4074	6139	SO:0001583	missense	495	exon11			CGCGGGTCCTCCA		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1523A>T	chr19.hg19:g.36048727T>A	ENSP00000262623:p.Asp508Val	87.0	0.0		120.0	15.0	NM_000704	O00738	Missense_Mutation	SNP	ENST00000262623.3	hg19	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.826776	0.71143	.	.	ENSG00000105675	ENST00000262623	T	0.81078	-1.45	3.39	3.39	0.38822	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.318910	0.22173	N	0.063615	D	0.83691	0.5309	M	0.64630	1.985	0.58432	D	0.999999	B	0.32800	0.385	P	0.48654	0.585	D	0.84275	0.0491	10	0.72032	D	0.01	.	9.8205	0.40880	0.0:0.0:0.0:1.0	.	508	P20648	ATP4A_HUMAN	V	508	ENSP00000262623:D508V	ENSP00000262623:D508V	D	-	2	0	ATP4A	40740567	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.912000	0.56386	1.421000	0.47157	0.397000	0.26171	GAC	.	.		0.716	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704	
NFKBID	84807	hgsc.bcm.edu	37	19	36387302	36387302	+	Missense_Mutation	SNP	C	C	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr19:36387302C>T	ENST00000396901.1	-	7	970	c.397G>A	c.(397-399)Gtt>Att	p.V133I	NFKBID_ENST00000606253.1_Missense_Mutation_p.V133I|NFKBID_ENST00000352614.2_Missense_Mutation_p.V285I|NFKBID_ENST00000585544.1_5'Flank	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	133					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						ACCAAGAGAACTCCTGGGAGC	0.607																																					p.V133I		Atlas-SNP	.											.	NFKBID	30	.	0			c.G397A						.						71.0	81.0	78.0					19																	36387302		1922	4131	6053	SO:0001583	missense	84807	exon7			AGAGAACTCCTGG	AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"""Ankyrin repeat domain containing"""	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.397G>A	chr19.hg19:g.36387302C>T	ENSP00000380109:p.Val133Ile	82.0	0.0		106.0	9.0	NM_139239	Q8NI39|Q9BRG9	Missense_Mutation	SNP	ENST00000396901.1	hg19	CCDS42552.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193820	0.58017	.	.	ENSG00000167604	ENST00000352614;ENST00000396901	T;T	0.63913	-0.07;-0.07	4.81	4.81	0.61882	Ankyrin repeat-containing domain (4);	0.072360	0.56097	D	0.000030	T	0.60586	0.2280	N	0.05199	-0.095	0.80722	D	1	D;P	0.61697	0.99;0.729	D;P	0.75484	0.986;0.535	T	0.66337	-0.5949	10	0.37606	T	0.19	.	15.3604	0.74469	0.0:1.0:0.0:0.0	.	285;133	Q8NI38-2;Q8NI38	.;IKBD_HUMAN	I	285;133	ENSP00000252985:V285I;ENSP00000380109:V133I	ENSP00000252985:V285I	V	-	1	0	NFKBID	41079142	0.998000	0.40836	0.939000	0.37840	0.279000	0.26890	3.897000	0.56273	2.199000	0.70637	0.561000	0.74099	GTT	.	.		0.607	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721	
ZNF790	388536	hgsc.bcm.edu	37	19	37310227	37310227	+	Missense_Mutation	SNP	C	C	G	rs375770964		TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr19:37310227C>G	ENST00000356725.4	-	5	1139	c.1019G>C	c.(1018-1020)tGt>tCt	p.C340S	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	340					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACACTCCTTACATTCATAAGG	0.378																																					p.C340S		Atlas-SNP	.											.	ZNF790	89	.	0			c.G1019C						.	C	SER/CYS,SER/CYS,SER/CYS,SER/CYS	1,4405	2.1+/-5.4	0,1,2202	60.0	61.0	61.0		1019,1019,1019,1019	3.1	0.9	19		61	0,8600		0,0,4300	no	missense,missense,missense,missense	ZNF790	NM_001242800.1,NM_001242801.1,NM_001242802.1,NM_206894.3	112,112,112,112	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	340/637,340/637,340/637,340/637	37310227	1,13005	2203	4300	6503	SO:0001583	missense	388536	exon5			TCCTTACATTCAT	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1019G>C	chr19.hg19:g.37310227C>G	ENSP00000349161:p.Cys340Ser	79.0	0.0		77.0	14.0	NM_206894		Missense_Mutation	SNP	ENST00000356725.4	hg19	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475659	0.63737	2.27E-4	0.0	ENSG00000197863	ENST00000356725	D	0.85171	-1.95	3.14	3.14	0.36123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93648	0.7971	M	0.93638	3.44	0.44337	D	0.997221	D	0.89917	1.0	D	0.97110	1.0	D	0.95038	0.8175	9	0.87932	D	0	.	13.5234	0.61580	0.0:1.0:0.0:0.0	.	340	Q6PG37	ZN790_HUMAN	S	340	ENSP00000349161:C340S	ENSP00000349161:C340S	C	-	2	0	ZNF790	42002067	0.999000	0.42202	0.895000	0.35142	0.815000	0.46073	4.770000	0.62309	1.753000	0.51906	0.491000	0.48974	TGT	.	.		0.378	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894	
ZNF546	339327	hgsc.bcm.edu	37	19	40520371	40520371	+	Silent	SNP	A	A	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr19:40520371A>T	ENST00000347077.4	+	7	1410	c.1194A>T	c.(1192-1194)tcA>tcT	p.S398S	ZNF546_ENST00000600094.1_Silent_p.S372S|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCATGGCTCATACCTTGTTC	0.378																																					p.S398S		Atlas-SNP	.											.	ZNF546	93	.	0			c.A1194T						.						47.0	45.0	46.0					19																	40520371		2203	4300	6503	SO:0001819	synonymous_variant	339327	exon7			TGGCTCATACCTT	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1194A>T	chr19.hg19:g.40520371A>T		101.0	0.0		80.0	13.0	NM_178544	A8K913	Silent	SNP	ENST00000347077.4	hg19	CCDS12548.1																																																																																			.	.		0.378	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
KPTN	11133	hgsc.bcm.edu	37	19	47983128	47983128	+	Missense_Mutation	SNP	G	G	T	rs547863250		TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr19:47983128G>T	ENST00000338134.3	-	8	886	c.779C>A	c.(778-780)gCc>gAc	p.A260D	KPTN_ENST00000536339.1_Missense_Mutation_p.A20D|KPTN_ENST00000595484.1_5'Flank	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	260					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		ACCCTTGGCGGCCGAGAGGCT	0.602													g|||	1	0.000199681	0.0	0.0	5008	,	,		10019	0.001		0.0	False		,,,				2504	0.0				p.A260D		Atlas-SNP	.											.	KPTN	34	.	0			c.C779A						.						38.0	43.0	41.0					19																	47983128		1992	4150	6142	SO:0001583	missense	11133	exon8			TTGGCGGCCGAGA	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.779C>A	chr19.hg19:g.47983128G>T	ENSP00000337850:p.Ala260Asp	50.0	0.0		88.0	4.0	NM_007059	B3KN86|B4DQ76|Q96GT1	Missense_Mutation	SNP	ENST00000338134.3	hg19	CCDS42583.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207593	0.39003	.	.	ENSG00000118162	ENST00000338134;ENST00000536339	.	.	.	4.16	3.09	0.35607	.	0.608900	0.16534	N	0.210260	T	0.42426	0.1202	L	0.54323	1.7	0.09310	N	1	B	0.30281	0.275	B	0.32624	0.149	T	0.28713	-1.0035	9	0.36615	T	0.2	-12.7416	9.6832	0.40082	0.0:0.2134:0.7866:0.0	.	260	Q9Y664	KPTN_HUMAN	D	260;20	.	ENSP00000337850:A260D	A	-	2	0	KPTN	52674940	1.000000	0.71417	0.002000	0.10522	0.724000	0.41520	0.768000	0.26590	0.698000	0.31739	0.306000	0.20318	GCC	.	.		0.602	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2		
OSCAR	126014	hgsc.bcm.edu	37	19	54600387	54600387	+	Silent	SNP	A	A	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr19:54600387A>T	ENST00000284648.6	-	4	332	c.135T>A	c.(133-135)ccT>ccA	p.P45P	OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000359649.4_Silent_p.P49P|OSCAR_ENST00000356532.3_Silent_p.P49P|OSCAR_ENST00000391761.1_Silent_p.P34P|OSCAR_ENST00000358375.4_Silent_p.P45P|OSCAR_ENST00000351806.4_Silent_p.P34P			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	45	Ig-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					CGTTGACCCCAGGGGTCACAA	0.607																																					p.P49P		Atlas-SNP	.											.	OSCAR	22	.	0			c.T147A						.						63.0	68.0	66.0					19																	54600387		2203	4300	6503	SO:0001819	synonymous_variant	126014	exon4			GACCCCAGGGGTC	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.135T>A	chr19.hg19:g.54600387A>T		95.0	0.0		93.0	16.0	NM_130771	B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Silent	SNP	ENST00000284648.6	hg19																																																																																				.	.		0.607	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	NM_133169	
JAG1	182	hgsc.bcm.edu	37	20	10644621	10644621	+	Silent	SNP	A	A	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr20:10644621A>G	ENST00000254958.5	-	3	944	c.429T>C	c.(427-429)aaT>aaC	p.N143N	JAG1_ENST00000423891.2_5'Flank	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	143					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GAACGGTGTCATTACTGGAAT	0.468									Alagille Syndrome																												p.N143N		Atlas-SNP	.											.	JAG1	213	.	0			c.T429C						.						180.0	140.0	154.0					20																	10644621		2203	4300	6503	SO:0001819	synonymous_variant	182	exon3	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GGTGTCATTACTG	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.429T>C	chr20.hg19:g.10644621A>G		164.0	0.0		193.0	17.0	NM_000214	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	hg19	CCDS13112.1																																																																																			.	.		0.468	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214	
PTPRT	11122	hgsc.bcm.edu	37	20	40980734	40980734	+	Silent	SNP	G	G	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr20:40980734G>T	ENST00000373187.1	-	10	1751	c.1752C>A	c.(1750-1752)acC>acA	p.T584T	PTPRT_ENST00000373201.1_Silent_p.T584T|PTPRT_ENST00000373190.1_Silent_p.T584T|PTPRT_ENST00000373198.4_Silent_p.T584T|PTPRT_ENST00000373184.1_Silent_p.T584T|PTPRT_ENST00000356100.2_Silent_p.T584T|PTPRT_ENST00000373193.3_Silent_p.T584T			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	584	Fibronectin type-III 3. {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)	p.T584T(1)		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)				CTGAAATTTTGGTGGCAATCC	0.468																																					p.T584T		Atlas-SNP	.											PTPRT,NS,carcinoma,0,1	PTPRT	372	.	1	Substitution - coding silent(1)	lung(1)	c.C1752A						.						77.0	79.0	79.0					20																	40980734		1891	4122	6013	SO:0001819	synonymous_variant	11122	exon10			AATTTTGGTGGCA	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.1752C>A	chr20.hg19:g.40980734G>T		102.0	0.0		139.0	10.0	NM_007050	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	hg19	CCDS42874.1																																																																																			.	.		0.468	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
PCK1	5105	hgsc.bcm.edu	37	20	56139664	56139664	+	Missense_Mutation	SNP	C	C	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr20:56139664C>T	ENST00000319441.4	+	8	1477	c.1313C>T	c.(1312-1314)cCt>cTt	p.P438L	PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Missense_Mutation_p.P121L	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	438					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GGCCGTAGACCTGCTGGTGAG	0.552																																					p.P438L		Atlas-SNP	.											.	PCK1	95	.	0			c.C1313T						.						105.0	101.0	103.0					20																	56139664		2203	4300	6503	SO:0001583	missense	5105	exon8			GTAGACCTGCTGG		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1313C>T	chr20.hg19:g.56139664C>T	ENSP00000319814:p.Pro438Leu	30.0	0.0		40.0	7.0	NM_002591	A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	hg19	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448695	0.84101	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666	T;T	0.04360	3.64;3.64	5.8	5.8	0.92144	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.59215	-0.7496	10	0.87932	D	0	-9.5935	20.063	0.97692	0.0:1.0:0.0:0.0	.	121;438	B4DT64;P35558	.;PCKGC_HUMAN	L	120;438;121	ENSP00000319814:P438L;ENSP00000445767:P121L	ENSP00000319814:P438L	P	+	2	0	PCK1	55573070	1.000000	0.71417	0.982000	0.44146	0.529000	0.34654	7.285000	0.78660	2.735000	0.93741	0.655000	0.94253	CCT	.	.		0.552	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2		
RANGAP1	5905	hgsc.bcm.edu	37	22	41652812	41652812	+	Missense_Mutation	SNP	C	C	T	rs567605253		TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr22:41652812C>T	ENST00000455915.2	-	7	2260	c.791G>A	c.(790-792)cGg>cAg	p.R264Q	RANGAP1_ENST00000407260.4_Missense_Mutation_p.R209Q|RANGAP1_ENST00000405486.1_Missense_Mutation_p.R264Q|RANGAP1_ENST00000356244.3_Missense_Mutation_p.R264Q			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	264					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCCACCTGCCGCAAGGTCTT	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13657	0.0		0.0	False		,,,				2504	0.0				p.R264Q		Atlas-SNP	.											.	RANGAP1	47	.	0			c.G791A						.						47.0	45.0	45.0					22																	41652812		2203	4300	6503	SO:0001583	missense	5905	exon8			ACCTGCCGCAAGG	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.791G>A	chr22.hg19:g.41652812C>T	ENSP00000401470:p.Arg264Gln	64.0	0.0		74.0	10.0	NM_002883	Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	hg19	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405842	0.42715	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	T;T;T;T	0.52295	0.67;0.67;0.67;0.68	5.55	5.55	0.83447	.	0.105475	0.64402	D	0.000007	T	0.32466	0.0830	N	0.14661	0.345	0.51482	D	0.999925	B;B	0.26363	0.147;0.091	B;B	0.18263	0.021;0.004	T	0.10706	-1.0618	10	0.16896	T	0.51	-21.1076	19.4978	0.95081	0.0:1.0:0.0:0.0	.	209;264	F8W7I9;P46060	.;RAGP1_HUMAN	Q	264;264;264;264;209	ENSP00000385866:R264Q;ENSP00000348577:R264Q;ENSP00000401470:R264Q;ENSP00000385354:R209Q	ENSP00000348577:R264Q	R	-	2	0	RANGAP1	39982758	0.972000	0.33761	1.000000	0.80357	0.623000	0.37688	3.959000	0.56744	2.608000	0.88229	0.462000	0.41574	CGG	.	.		0.632	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883	
IL1RAPL1	11141	hgsc.bcm.edu	37	X	29973747	29973747	+	Missense_Mutation	SNP	C	C	T			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chrX:29973747C>T	ENST00000378993.1	+	11	2574	c.1901C>T	c.(1900-1902)cCt>cTt	p.P634L	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.P634L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	634	Interaction with NCS1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GACGTACCTCCTACCGGCACC	0.512																																					p.P634L		Atlas-SNP	.											.	IL1RAPL1	311	.	0			c.C1901T						.						84.0	43.0	57.0					X																	29973747		2202	4300	6502	SO:0001583	missense	11141	exon11			TACCTCCTACCGG	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1901C>T	chrX.hg19:g.29973747C>T	ENSP00000368278:p.Pro634Leu	77.0	0.0		118.0	32.0	NM_014271	A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	hg19	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259525	0.39995	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.04119	3.7;3.7	5.25	5.25	0.73442	.	0.100017	0.64402	D	0.000001	T	0.05181	0.0138	L	0.36672	1.1	0.80722	D	1	P	0.38020	0.615	B	0.33454	0.164	T	0.52245	-0.8601	9	.	.	.	.	16.1248	0.81383	0.0:1.0:0.0:0.0	.	634	Q9NZN1	IRPL1_HUMAN	L	634	ENSP00000368278:P634L;ENSP00000305200:P634L	.	P	+	2	0	IL1RAPL1	29883668	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.655000	0.61476	2.174000	0.68829	0.600000	0.82982	CCT	.	.		0.512	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	
AMER1	139285	hgsc.bcm.edu	37	X	63412208	63412208	+	Missense_Mutation	SNP	T	T	A			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chrX:63412208T>A	ENST00000330258.3	-	2	1231	c.959A>T	c.(958-960)aAa>aTa	p.K320I	AMER1_ENST00000374869.3_Missense_Mutation_p.K320I|AMER1_ENST00000403336.1_Missense_Mutation_p.K320I	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	320					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									ATCAAAGCTTTTCAGGGATGT	0.527																																					p.K320I		Atlas-SNP	.											.	.	.	.	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	c.A959T						.						135.0	117.0	123.0					X																	63412208		2203	4300	6503	SO:0001583	missense	139285	exon2			AAGCTTTTCAGGG	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.959A>T	chrX.hg19:g.63412208T>A	ENSP00000329117:p.Lys320Ile	45.0	0.0		58.0	6.0	NM_152424	A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	hg19	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	T	18.01	3.527713	0.64860	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.32023	1.47;1.47;1.47	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.54886	0.1886	M	0.74647	2.275	0.46823	D	0.999212	D	0.89917	1.0	D	0.91635	0.999	T	0.59867	-0.7373	10	0.87932	D	0	-18.0894	12.9334	0.58301	0.0:0.0:0.0:1.0	.	320	Q5JTC6	F123B_HUMAN	I	320	ENSP00000364003:K320I;ENSP00000329117:K320I;ENSP00000384722:K320I	ENSP00000329117:K320I	K	-	2	0	FAM123B	63328933	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.525000	0.81892	2.003000	0.58678	0.430000	0.28490	AAA	.	.		0.527	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
IL1RAPL2	26280	hgsc.bcm.edu	37	X	104999216	104999216	+	Missense_Mutation	SNP	A	A	G			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chrX:104999216A>G	ENST00000372582.1	+	10	1994	c.1238A>G	c.(1237-1239)cAa>cGa	p.Q413R	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.Q413R	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	413	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAAGTGGACCAAGATACTTTA	0.373																																					p.Q413R		Atlas-SNP	.											.	IL1RAPL2	105	.	0			c.A1238G						.						127.0	115.0	119.0					X																	104999216		2203	4300	6503	SO:0001583	missense	26280	exon10			TGGACCAAGATAC	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1238A>G	chrX.hg19:g.104999216A>G	ENSP00000361663:p.Gln413Arg	144.0	0.0		169.0	40.0	NM_017416	Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	hg19	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.481888	0.44147	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04194	3.99;3.99;3.68	5.62	4.51	0.55191	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.101165	0.43747	D	0.000539	T	0.02767	0.0083	N	0.08118	0	0.35755	D	0.819711	B	0.28400	0.21	B	0.32677	0.15	T	0.48790	-0.9004	10	0.11182	T	0.66	.	9.5508	0.39308	0.5691:0.4309:0.0:0.0	.	413	Q9NP60	IRPL2_HUMAN	R	413;413;18	ENSP00000361663:Q413R;ENSP00000344976:Q413R;ENSP00000445576:Q18R	ENSP00000344976:Q413R	Q	+	2	0	IL1RAPL2	104885872	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	5.108000	0.64609	1.881000	0.54492	0.486000	0.48141	CAA	.	.		0.373	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416	
ADH5	128	hgsc.bcm.edu	37	4	100003145	100003146	+	Frame_Shift_Ins	INS	-	-	C			TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr4:100003145_100003146insC	ENST00000296412.8	-	3	286_287	c.236_237insG	c.(235-237)ggafs	p.G79fs	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		GCTTAGTAACTCCCTCACCAAC	0.436																																					p.G79fs		Atlas-Indel,Pindel	.											.	ADH5	23	.	0			c.237_238insG						.																																			SO:0001589	frameshift_variant	128	exon3			.	M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.237dupG	chr4.hg19:g.100003148_100003148dupC	ENSP00000296412:p.Gly79fs	192.0	0.0		191.0	29.0	NM_000671		Frame_Shift_Ins	INS	ENST00000296412.8	hg19	CCDS47111.1																																																																																			.	.		0.436	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	NM_000671	
MUC20	200958	hgsc.bcm.edu	37	3	195452975	195452978	+	Frame_Shift_Del	DEL	CCCA	CCCA	-	rs562232731		TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	CCCA	CCCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr3:195452975_195452978delCCCA	ENST00000447234.2	+	2	1627_1630	c.1501_1504delCCCA	c.(1501-1506)cccactfs	p.PT501fs	MUC20_ENST00000445522.2_Frame_Shift_Del_p.PT466fs|MUC20_ENST00000436408.1_Frame_Shift_Del_p.PT501fs|MUC20_ENST00000320736.6_Frame_Shift_Del_p.PT330fs	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	501	Involved in oligomerization.		Missing. {ECO:0000269|PubMed:14702039}.		activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GACCCCACTCCCCACTAACAGCGC	0.593																																					p.329_330del		Atlas-Indel,Pindel	.											.	MUC20	84	.	0			c.987_990del						.																																			SO:0001589	frameshift_variant	200958	exon3			.	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1501_1504delCCCA	chr3.hg19:g.195452975_195452978delCCCA	ENSP00000414350:p.Pro501fs	411.0	0.0		453.0	44.0	NM_152673	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Frame_Shift_Del	DEL	ENST00000447234.2	hg19																																																																																				.	.		0.593	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673	
PRB3	5544	hgsc.bcm.edu	37	12	11420457	11420583	+	Frame_Shift_Del	DEL	GAGGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGAC	GAGGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGAC	-	rs367917023|rs552923329|rs12811806|rs200902635|rs570697251|rs113884749|rs11054203|rs370173277|rs28435564|rs112526960|rs375731986|rs12368171|rs200117404|rs12811811|rs539718896|rs550913655	byFrequency	TCGA-K7-A5RG-01A-11D-A28X-10	TCGA-K7-A5RG-10A-01D-A28X-10	GAGGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGAC	GAGGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95bf87d5-3675-43fb-9dad-5e8968afcf13	c34592de-1c9f-4df8-8565-e1ed94a51992	g.chr12:11420457_11420583delGAGGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGAC	ENST00000279573.7	-	3	735_861	c.600_726delGTCCAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCAGGAAAGCCAGAAGGACCACCTTCACAAGGAGGCAACAAACCTCAAGGTCCCCCACCCTC	c.(598-726)cggtccaggaaagccagaaggaccacccccacaaggaggaaaccagtcccaaggtcccccacctcgtccaggaaagccagaaggaccaccttcacaaggaggcaacaaacctcaaggtcccccaccctcfs	p.RSRKARRTTPTRRKPVPRSPTSSRKARRTTFTRRQQTSRSPTL200fs	PRB3_ENST00000538488.1_Splice_Site_p.RSRKARRTTPTRRKPVPRSPTSSR179fs|PRB3_ENST00000381842.3_Splice_Site_p.RSR200fs|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	200	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)		p.Q193K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GCTTTCCTGGACGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCCGGACGAGGTGGGG	0.618																																					p.242_242del		Pindel	.											PRB3_ENST00000538488,caecum,carcinoma,0,2	PRB3	84	.	1	Substitution - Missense(1)	endometrium(1)	c.725_725del						.																																			SO:0001589	frameshift_variant	5544	exon4			.			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.600_726delGTCCAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCAGGAAAGCCAGAAGGACCACCTTCACAAGGAGGCAACAAACCTCAAGGTCCCCCACCCTC	chr12.hg19:g.11420457_11420583delGAGGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGAC	ENSP00000279573:p.Arg200fs	85.0	0.0		100.0	13.0	NM_006249	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Frame_Shift_Del	DEL	ENST00000279573.7	hg19																																																																																				.	.		0.618	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249	
