#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
ZMYND12	84217	hgsc.bcm.edu	37	1	42914268	42914268	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr1:42914268G>T	ENST00000372565.3	-	3	563	c.294C>A	c.(292-294)taC>taA	p.Y98*	ZMYND12_ENST00000433602.2_Intron	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	98						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTTCAAAGAGGTATTTCTGGG	0.468																																					p.Y98X		Atlas-SNP	.											.	ZMYND12	35	.	0			c.C294A						.						112.0	100.0	104.0					1																	42914268		2203	4300	6503	SO:0001587	stop_gained	84217	exon3			AAAGAGGTATTTC	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.294C>A	chr1.hg19:g.42914268G>T	ENSP00000361646:p.Tyr98*	119.0	0.0		88.0	38.0	NM_032257	Q5VUS6|Q8TC87|Q96M51	Nonsense_Mutation	SNP	ENST00000372565.3	hg19	CCDS467.1	.	.	.	.	.	.	.	.	.	.	G	36	5.809436	0.96975	.	.	ENSG00000066185	ENST00000372565	.	.	.	5.58	-0.793	0.10922	.	0.470389	0.24671	N	0.036550	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.825	10.7948	0.46453	0.4596:0.0:0.5404:0.0	.	.	.	.	X	98	.	ENSP00000361646:Y98X	Y	-	3	2	ZMYND12	42686855	0.869000	0.29996	0.966000	0.40874	0.946000	0.59487	-0.109000	0.10840	-0.404000	0.07610	-0.367000	0.07326	TAC	.	.		0.468	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257	
DENND2D	79961	hgsc.bcm.edu	37	1	111738547	111738547	+	Silent	SNP	T	T	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr1:111738547T>A	ENST00000357640.4	-	6	865	c.636A>T	c.(634-636)tcA>tcT	p.S212S	DENND2D_ENST00000369752.5_Silent_p.S209S|DENND2D_ENST00000473682.1_5'UTR	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	212	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CCTCAGTGCCTGAGTCGGGGA	0.557																																					p.S212S		Atlas-SNP	.											.	DENND2D	50	.	0			c.A636T						.						142.0	137.0	139.0					1																	111738547		2203	4300	6503	SO:0001819	synonymous_variant	79961	exon6			AGTGCCTGAGTCG		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.636A>T	chr1.hg19:g.111738547T>A		27.0	0.0		29.0	7.0	NM_024901	Q5T5V6|Q9BSU0	Silent	SNP	ENST00000357640.4	hg19	CCDS831.1																																																																																			.	.		0.557	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901	
ANKRD34A	284615	hgsc.bcm.edu	37	1	145474461	145474461	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr1:145474461C>T	ENST00000323397.4	+	4	2426	c.1133C>T	c.(1132-1134)cCc>cTc	p.P378L	LIX1L_ENST00000369308.3_5'Flank|RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	378	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCTCGGCTCCCTCTCCGCGC	0.711																																					p.P378L		Atlas-SNP	.											.	ANKRD34A	52	.	0			c.C1133T						.						17.0	19.0	18.0					1																	145474461		2202	4296	6498	SO:0001583	missense	284615	exon4			CGGCTCCCTCTCC	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.1133C>T	chr1.hg19:g.145474461C>T	ENSP00000314103:p.Pro378Leu	68.0	0.0		67.0	11.0	NM_001039888	B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	hg19	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035425	0.35893	.	.	ENSG00000181039	ENST00000323397	T	0.17213	2.29	5.11	4.17	0.49024	.	1.222920	0.05731	N	0.599596	T	0.04137	0.0115	N	0.08118	0	0.30567	N	0.763884	B	0.10296	0.003	B	0.12156	0.007	T	0.29274	-1.0017	10	0.87932	D	0	-4.7809	10.6339	0.45554	0.191:0.809:0.0:0.0	.	378	Q69YU3	AN34A_HUMAN	L	378	ENSP00000314103:P378L	ENSP00000314103:P378L	P	+	2	0	ANKRD34A	144185818	0.185000	0.23213	0.915000	0.36163	0.915000	0.54546	1.603000	0.36794	1.322000	0.45245	0.650000	0.86243	CCC	.	.		0.711	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1		
BCAN	63827	hgsc.bcm.edu	37	1	156628362	156628362	+	Missense_Mutation	SNP	C	C	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr1:156628362C>A	ENST00000329117.5	+	13	2801	c.2465C>A	c.(2464-2466)cCc>cAc	p.P822H	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	822	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCGGAGCTGCCCCTGGCTCAA	0.632																																					p.P822H		Atlas-SNP	.											.	BCAN	174	.	0			c.C2465A						.						36.0	41.0	39.0					1																	156628362		2203	4300	6503	SO:0001583	missense	63827	exon13			AGCTGCCCCTGGC	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2465C>A	chr1.hg19:g.156628362C>A	ENSP00000331210:p.Pro822His	58.0	0.0		63.0	6.0	NM_021948	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	hg19	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458108	0.63401	.	.	ENSG00000132692	ENST00000329117	T	0.68624	-0.34	5.4	4.46	0.54185	Complement control module (2);Sushi/SCR/CCP (3);	0.112919	0.37012	N	0.002285	T	0.52837	0.1759	L	0.58669	1.825	0.80722	D	1	B	0.33637	0.42	B	0.36186	0.219	T	0.62315	-0.6880	10	0.66056	D	0.02	-18.4459	13.7094	0.62659	0.0:0.8444:0.1556:0.0	.	822	Q96GW7	PGCB_HUMAN	H	822	ENSP00000331210:P822H	ENSP00000331210:P822H	P	+	2	0	BCAN	154894986	0.000000	0.05858	0.999000	0.59377	0.982000	0.71751	0.373000	0.20484	1.474000	0.48178	0.555000	0.69702	CCC	.	.		0.632	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948	
OR6P1	128366	hgsc.bcm.edu	37	1	158533217	158533217	+	Missense_Mutation	SNP	A	A	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr1:158533217A>T	ENST00000334632.1	-	1	177	c.178T>A	c.(178-180)Tac>Aac	p.Y60N		NM_001160325.1	NP_001153797.1	Q8NGX9	OR6P1_HUMAN	olfactory receptor, family 6, subfamily P, member 1	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|lung(1)	6						AGGAAAAAGTACATGGGACGA	0.448																																					p.Y60N		Atlas-SNP	.											.	OR6P1	47	.	0			c.T178A						.						41.0	46.0	45.0					1																	158533217		692	1591	2283	SO:0001583	missense	128366	exon1			AAAAGTACATGGG	BK004193	CCDS53391.1	1q23.1	2012-08-09			ENSG00000186440	ENSG00000186440		"""GPCR / Class A : Olfactory receptors"""	15036	protein-coding gene	gene with protein product							Standard	NM_001160325		Approved		uc010pim.2	Q8NGX9	OTTHUMG00000019633	ENST00000334632.1:c.178T>A	chr1.hg19:g.158533217A>T	ENSP00000334721:p.Tyr60Asn	64.0	0.0		100.0	42.0	NM_001160325	Q6IFR9	Missense_Mutation	SNP	ENST00000334632.1	hg19	CCDS53391.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.563376	0.45694	.	.	ENSG00000186440	ENST00000334632	T	0.15603	2.41	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	D	0.000728	T	0.40322	0.1112	H	0.96805	3.885	0.46185	D	0.998913	D	0.64830	0.994	P	0.54629	0.757	T	0.61831	-0.6982	10	0.87932	D	0	.	13.8199	0.63313	1.0:0.0:0.0:0.0	.	60	Q8NGX9	OR6P1_HUMAN	N	60	ENSP00000334721:Y60N	ENSP00000334721:Y60N	Y	-	1	0	OR6P1	156799841	1.000000	0.71417	0.998000	0.56505	0.055000	0.15305	8.965000	0.93393	2.100000	0.63781	0.482000	0.46254	TAC	.	.		0.448	OR6P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051848.1		
SPTA1	6708	hgsc.bcm.edu	37	1	158655029	158655029	+	Missense_Mutation	SNP	T	T	C			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr1:158655029T>C	ENST00000368147.4	-	2	313	c.133A>G	c.(133-135)Agg>Ggg	p.R45G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	45			R -> S (in EL2; Clichy). {ECO:0000269|PubMed:2568862}.|R -> T (in EL2; Anastasia). {ECO:0000269|PubMed:7772539}.		actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ttctgaccccTCTCAGCGACC	0.483																																					p.R45G		Atlas-SNP	.											.	SPTA1	720	.	0			c.A133G						.						116.0	118.0	117.0					1																	158655029		1935	4138	6073	SO:0001583	missense	6708	exon2			GACCCCTCTCAGC	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.133A>G	chr1.hg19:g.158655029T>C	ENSP00000357129:p.Arg45Gly	102.0	0.0		154.0	74.0	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404231	0.62288	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50277	0.75;0.75	5.18	2.75	0.32379	.	0.000000	0.35805	N	0.002974	T	0.53610	0.1807	M	0.68593	2.085	0.43598	D	0.995951	D	0.60575	0.988	D	0.68765	0.96	T	0.60454	-0.7260	10	0.87932	D	0	.	11.8885	0.52616	0.0:0.0:0.2859:0.714	.	45	P02549	SPTA1_HUMAN	G	45	ENSP00000357130:R45G;ENSP00000357129:R45G	ENSP00000357129:R45G	R	-	1	2	SPTA1	156921653	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.626000	0.54245	0.961000	0.38030	0.383000	0.25322	AGG	.	.		0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SELE	6401	hgsc.bcm.edu	37	1	169702100	169702100	+	Missense_Mutation	SNP	G	G	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr1:169702100G>T	ENST00000333360.7	-	3	216	c.77C>A	c.(76-78)aCc>aAc	p.T26N	SELE_ENST00000367777.1_Missense_Mutation_p.T26N|SELE_ENST00000367779.4_Missense_Mutation_p.T26N|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Missense_Mutation_p.T26N|SELE_ENST00000367781.4_Missense_Mutation_p.T26N|SELE_ENST00000367776.1_Missense_Mutation_p.T26N|SELE_ENST00000367775.1_Missense_Mutation_p.T26N|SELE_ENST00000367780.4_Missense_Mutation_p.T26N|SELE_ENST00000367782.4_Missense_Mutation_p.T26N	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	26	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	TTCCGTGGAGGTGTTGTAAGA	0.418																																					p.T26N		Atlas-SNP	.											.	SELE	84	.	0			c.C77A						.						111.0	104.0	106.0					1																	169702100		2203	4300	6503	SO:0001583	missense	6401	exon3			GTGGAGGTGTTGT	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.77C>A	chr1.hg19:g.169702100G>T	ENSP00000331736:p.Thr26Asn	82.0	0.0		130.0	17.0	NM_000450	A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	hg19	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783198	0.49891	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	5.58	0.174	0.15040	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	1.218260	0.06047	N	0.655883	T	0.04048	0.0113	L	0.37561	1.115	0.09310	N	1	B	0.30584	0.286	B	0.25506	0.061	T	0.40515	-0.9559	10	0.31617	T	0.26	-0.9604	0.8401	0.01148	0.2939:0.1191:0.3771:0.2099	.	26	P16581	LYAM2_HUMAN	N	26	ENSP00000356755:T26N;ENSP00000356756:T26N;ENSP00000356754:T26N;ENSP00000356753:T26N;ENSP00000331736:T26N;ENSP00000356751:T26N;ENSP00000356749:T26N;ENSP00000356750:T26N;ENSP00000356748:T26N	ENSP00000331736:T26N	T	-	2	0	SELE	167968724	0.051000	0.20477	0.001000	0.08648	0.765000	0.43378	1.664000	0.37439	0.031000	0.15407	0.655000	0.94253	ACC	.	.		0.418	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450	
HHAT	55733	hgsc.bcm.edu	37	1	210637950	210637950	+	Missense_Mutation	SNP	G	G	A	rs143700139		TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr1:210637950G>A	ENST00000367010.1	+	8	1185	c.958G>A	c.(958-960)Gcc>Acc	p.A320T	HHAT_ENST00000545781.1_Missense_Mutation_p.A257T|HHAT_ENST00000308852.6_Missense_Mutation_p.A275T|HHAT_ENST00000413764.2_Missense_Mutation_p.A320T|HHAT_ENST00000367009.1_Missense_Mutation_p.A10T|HHAT_ENST00000545154.1_Missense_Mutation_p.A321T|HHAT_ENST00000537898.1_Missense_Mutation_p.A255T|HHAT_ENST00000391905.3_Missense_Mutation_p.A320T|HHAT_ENST00000261458.3_Missense_Mutation_p.A320T|HHAT_ENST00000541565.1_Missense_Mutation_p.A183T	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	320					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)		CACTCCACCCGCCCTCCCCCG	0.592																																					p.A321T		Atlas-SNP	.											HHAT,colon,carcinoma,0,1	HHAT	66	.	0			c.G961A						.	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	120.0	110.0	114.0		958,547,958,961,763,958	3.5	0.1	1	dbSNP_134	114	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	HHAT	NM_001122834.2,NM_001170564.1,NM_001170580.1,NM_001170587.1,NM_001170588.1,NM_018194.4	58,58,58,58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign	320/494,183/357,320/494,321/495,255/429,320/494	210637950	1,13005	2203	4300	6503	SO:0001583	missense	55733	exon7			CCACCCGCCCTCC	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.958G>A	chr1.hg19:g.210637950G>A	ENSP00000355977:p.Ala320Thr	133.0	1.0		172.0	68.0	NM_001170587	B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	hg19	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846171	0.32606	2.27E-4	0.0	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000426968;ENST00000367009	T;T;T;T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.42	3.49	0.39957	.	0.301734	0.36893	N	0.002341	T	0.55847	0.1946	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B	0.29671	0.226;0.177;0.254;0.115;0.226	B;B;B;B;B	0.25405	0.051;0.021;0.06;0.019;0.051	T	0.37502	-0.9703	10	0.15066	T	0.55	-21.4242	13.6214	0.62138	0.0:0.4157:0.5843:0.0	.	275;321;183;255;320	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	T	320;183;321;255;320;257;320;275;320;192;10	ENSP00000416845:A320T;ENSP00000444995:A183T;ENSP00000438468:A321T;ENSP00000442625:A255T;ENSP00000375773:A320T;ENSP00000439229:A257T;ENSP00000261458:A320T;ENSP00000308628:A275T;ENSP00000355977:A320T;ENSP00000413399:A192T;ENSP00000355976:A10T	ENSP00000261458:A320T	A	+	1	0	HHAT	208704573	0.152000	0.22762	0.065000	0.19835	0.166000	0.22503	1.291000	0.33330	1.276000	0.44395	-0.321000	0.08615	GCC	.	G|1.000;A|0.000		0.592	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194	
PSD4	23550	hgsc.bcm.edu	37	2	113940279	113940279	+	Silent	SNP	C	C	T	rs147089589		TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr2:113940279C>T	ENST00000245796.6	+	2	441	c.246C>T	c.(244-246)gaC>gaT	p.D82D	PSD4_ENST00000441564.3_Silent_p.D82D|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	82					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCATCAGGACGGGCTGGAGC	0.622																																					p.D82D		Atlas-SNP	.											PSD4,NS,carcinoma,0,1	PSD4	74	.	0			c.C246T						.	T		1,4405	2.1+/-5.4	0,1,2202	51.0	52.0	52.0		246	-1.1	0.0	2	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PSD4	NM_012455.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		82/1057	113940279	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23550	exon2			TCAGGACGGGCTG	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.246C>T	chr2.hg19:g.113940279C>T		71.0	1.0		87.0	29.0	NM_012455	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	hg19	CCDS33276.1																																																																																			.	C|1.000;T|0.000		0.622	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455	
LRP1B	53353	hgsc.bcm.edu	37	2	141806729	141806729	+	Missense_Mutation	SNP	C	C	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr2:141806729C>A	ENST00000389484.3	-	11	2586	c.1615G>T	c.(1615-1617)Gac>Tac	p.D539Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	539					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTATTCAAGTCCATTCCTCTA	0.403										TSP Lung(27;0.18)																											p.D539Y	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											LRP1B,NS,carcinoma,0,2	LRP1B	1315	.	0			c.G1615T						.						141.0	141.0	141.0					2																	141806729		2203	4300	6503	SO:0001583	missense	53353	exon11			TCAAGTCCATTCC	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1615G>T	chr2.hg19:g.141806729C>A	ENSP00000374135:p.Asp539Tyr	182.0	0.0		220.0	67.0	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880652	0.51801	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93712	-3.27	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	U	0.000000	D	0.93112	0.7807	L	0.48642	1.525	0.80722	D	1	D	0.57899	0.981	P	0.48425	0.577	D	0.93477	0.6824	10	0.59425	D	0.04	.	19.3798	0.94527	0.0:1.0:0.0:0.0	.	539	Q9NZR2	LRP1B_HUMAN	Y	539;477	ENSP00000374135:D539Y	ENSP00000374135:D539Y	D	-	1	0	LRP1B	141523199	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	7.710000	0.84655	2.565000	0.86533	0.563000	0.77884	GAC	.	.		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
FMNL2	114793	hgsc.bcm.edu	37	2	153471433	153471433	+	Silent	SNP	T	T	C			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr2:153471433T>C	ENST00000288670.9	+	12	1498	c.1131T>C	c.(1129-1131)gaT>gaC	p.D377D		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	377	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						ATGTTTTTGATGTAGGAGCTC	0.418																																					p.D377D		Atlas-SNP	.											.	FMNL2	75	.	0			c.T1131C						.						96.0	98.0	97.0					2																	153471433		1992	4199	6191	SO:0001819	synonymous_variant	114793	exon12			TTTTGATGTAGGA	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1131T>C	chr2.hg19:g.153471433T>C		149.0	0.0		127.0	47.0	NM_052905	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP	ENST00000288670.9	hg19	CCDS46429.1																																																																																			.	.		0.418	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905	
RPRM	56475	hgsc.bcm.edu	37	2	154334986	154334986	+	Missense_Mutation	SNP	G	G	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr2:154334986G>T	ENST00000325926.3	-	1	336	c.94C>A	c.(94-96)Cag>Aag	p.Q32K	AC012501.2_ENST00000424322.1_RNA	NM_019845.2	NP_062819.1	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependent G2 arrest mediator candidate	32					cell cycle arrest (GO:0007050)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)|prostate(1)	4						ACGGACGCCTGGGTGCAGCAG	0.677																																					p.Q32K		Atlas-SNP	.											.	RPRM	12	.	0			c.C94A						.						53.0	38.0	43.0					2																	154334986		2203	4299	6502	SO:0001583	missense	56475	exon1			ACGCCTGGGTGCA	AK074808	CCDS2198.1	2q24.1	2011-01-26	2005-12-01		ENSG00000177519	ENSG00000177519			24201	protein-coding gene	gene with protein product	"""candidate mediator of the p53 dependent G2 arrest"", ""REPRIMO"""	612171	"""reprimo, TP53 dependant G2 arrest mediator candidate"""			10930422	Standard	NM_019845		Approved	FLJ90327, REPRIMO	uc002tyq.1	Q9NS64	OTTHUMG00000131905	ENST00000325926.3:c.94C>A	chr2.hg19:g.154334986G>T	ENSP00000314946:p.Gln32Lys	28.0	0.0		30.0	9.0	NM_019845	B2R4V1	Missense_Mutation	SNP	ENST00000325926.3	hg19	CCDS2198.1	.	.	.	.	.	.	.	.	.	.	G	6.363	0.435014	0.12045	.	.	ENSG00000177519	ENST00000325926	.	.	.	4.92	4.92	0.64577	.	0.313337	0.30809	N	0.008838	T	0.48804	0.1520	L	0.39898	1.24	0.35027	D	0.758377	B	0.17268	0.021	B	0.17098	0.017	T	0.54384	-0.8302	9	0.21540	T	0.41	3.7537	15.5916	0.76534	0.0:0.0:1.0:0.0	.	32	Q9NS64	RPRM_HUMAN	K	32	.	ENSP00000314946:Q32K	Q	-	1	0	RPRM	154043232	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.825000	0.69286	2.260000	0.74910	0.591000	0.81541	CAG	.	.		0.677	RPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254856.1	NM_019845	
TTN	7273	hgsc.bcm.edu	37	2	179436094	179436094	+	Missense_Mutation	SNP	C	C	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr2:179436094C>G	ENST00000591111.1	-	276	70066	c.69842G>C	c.(69841-69843)aGg>aCg	p.R23281T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22354T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16049T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15982T|TTN_ENST00000589042.1_Missense_Mutation_p.R24922T|TTN_ENST00000460472.2_Missense_Mutation_p.R15857T|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23281	Fibronectin type-III 69. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			CATGCTGTCCCTGGAGGACAG	0.473																																					p.R24922T		Atlas-SNP	.											TTN_ENST00000359218,rectum,carcinoma,0,5	TTN	18412	.	0			c.G74765C						.						116.0	110.0	112.0					2																	179436094		1935	4166	6101	SO:0001583	missense	7273	exon326			CTGTCCCTGGAGG	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.69842G>C	chr2.hg19:g.179436094C>G	ENSP00000465570:p.Arg23281Thr	142.0	0.0		170.0	47.0	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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	C	4.684	0.127205	0.08981	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.39	0.177	0.15054	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33933	0.0880	N	0.20357	0.565	0.26028	N	0.98178	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.002;0.002;0.003;0.003	T	0.25813	-1.0121	9	0.87932	D	0	.	6.3835	0.21548	0.0:0.3952:0.138:0.4668	.	15857;15982;16049;23281	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	22354;15857;16049;15982;15855	ENSP00000343764:R22354T;ENSP00000434586:R15857T;ENSP00000340554:R16049T;ENSP00000352154:R15982T	ENSP00000340554:R16049T	R	-	2	0	TTN	179144340	1.000000	0.71417	0.232000	0.24009	0.479000	0.33129	2.271000	0.43364	-0.130000	0.11599	-0.312000	0.09012	AGG	.	.		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179636192	179636192	+	Missense_Mutation	SNP	G	G	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr2:179636192G>T	ENST00000591111.1	-	34	8086	c.7862C>A	c.(7861-7863)gCc>gAc	p.A2621D	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A2621D|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A2575D|TTN_ENST00000360870.5_Missense_Mutation_p.A2621D|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A2575D|TTN_ENST00000589042.1_Missense_Mutation_p.A2621D|TTN_ENST00000460472.2_Missense_Mutation_p.A2575D			Q8WZ42	TITIN_HUMAN	titin	12946	Ig-like 15.				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)			CTTGGAGATGGCCCCACCTTT	0.413																																					p.A2621D		Atlas-SNP	.											TTN_ENST00000360870,colon,carcinoma,0,6	TTN	18412	.	0			c.C7862A						.						95.0	84.0	88.0					2																	179636192		2203	4300	6503	SO:0001583	missense	7273	exon34			GAGATGGCCCCAC	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.7862C>A	chr2.hg19:g.179636192G>T	ENSP00000465570:p.Ala2621Asp	102.0	0.0		119.0	17.0	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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.81	3.480766	0.63849	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66099	-0.19;-0.03;-0.03;-0.04;0.25	6.17	6.17	0.99709	Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.77398	0.4124	L	0.52364	1.645	0.49798	D	0.999823	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.76564	-0.2913	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2575;2575;2575;2621;2621	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	2621;2575;2575;2575;2575;2621	ENSP00000343764:A2621D;ENSP00000434586:A2575D;ENSP00000340554:A2575D;ENSP00000352154:A2575D;ENSP00000354117:A2621D	ENSP00000340554:A2575D	A	-	2	0	TTN	179344437	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	8.025000	0.88777	2.941000	0.99782	0.655000	0.94253	GCC	.	.		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ITGA4	3676	hgsc.bcm.edu	37	2	182358113	182358113	+	Silent	SNP	C	C	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr2:182358113C>T	ENST00000397033.2	+	11	1645	c.1215C>T	c.(1213-1215)ggC>ggT	p.G405G		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	405					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TTTACAATGGCCGTGCAGATG	0.363																																					p.G405G		Atlas-SNP	.											.	ITGA4	142	.	0			c.C1215T						.						111.0	105.0	107.0					2																	182358113		1870	4104	5974	SO:0001819	synonymous_variant	3676	exon11			CAATGGCCGTGCA		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1215C>T	chr2.hg19:g.182358113C>T		106.0	0.0		115.0	28.0	NM_000885	D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	hg19	CCDS42788.1																																																																																			.	.		0.363	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
STAT4	6775	hgsc.bcm.edu	37	2	191927489	191927489	+	Splice_Site	SNP	T	T	C			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr2:191927489T>C	ENST00000392320.2	-	9	1254	c.940A>G	c.(940-942)Aac>Gac	p.N314D	STAT4_ENST00000358470.4_Splice_Site_p.N314D	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	314					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TTCACTTACTTCTTGAAAAGG	0.418																																					p.N314D		Atlas-SNP	.											.	STAT4	85	.	0			c.A940G						.						163.0	139.0	147.0					2																	191927489		2203	4300	6503	SO:0001630	splice_region_variant	6775	exon9			CTTACTTCTTGAA		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.941+1A>G	chr2.hg19:g.191927489T>C		119.0	0.0		149.0	43.0	NM_001243835	Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	hg19	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.664338	0.67700	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	T;T	0.59906	0.23;0.23	5.33	5.33	0.75918	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.043287	0.85682	D	0.000000	T	0.51278	0.1665	L	0.42245	1.32	0.80722	D	1	B;B;B	0.33777	0.425;0.285;0.285	B;B;B	0.31946	0.138;0.138;0.138	T	0.56025	-0.8047	10	0.62326	D	0.03	-20.6434	15.452	0.75279	0.0:0.0:0.0:1.0	.	223;314;314	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	D	314	ENSP00000351255:N314D;ENSP00000376134:N314D	ENSP00000351255:N314D	N	-	1	0	STAT4	191635734	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.760000	0.74939	2.234000	0.73211	0.533000	0.62120	AAC	.	.		0.418	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151	Missense_Mutation
TRIP12	9320	hgsc.bcm.edu	37	2	230724096	230724096	+	Missense_Mutation	SNP	G	G	A	rs532583604	byFrequency	TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr2:230724096G>A	ENST00000283943.5	-	3	471	c.293C>T	c.(292-294)aCt>aTt	p.T98I	TRIP12_ENST00000389044.4_Missense_Mutation_p.T140I|TRIP12_ENST00000409677.1_Missense_Mutation_p.T140I|TRIP12_ENST00000543084.1_Missense_Mutation_p.T140I|TRIP12_ENST00000389045.3_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	98					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGGAGATTCAGTATGCTGAAG	0.423																																					p.T98I		Atlas-SNP	.											.	TRIP12	207	.	0			c.C293T						.						186.0	180.0	182.0					2																	230724096		2203	4300	6503	SO:0001583	missense	9320	exon3			GATTCAGTATGCT	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.293C>T	chr2.hg19:g.230724096G>A	ENSP00000283943:p.Thr98Ile	156.0	0.0		201.0	70.0	NM_004238	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	hg19	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394617	0.42512	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000435716;ENST00000428959;ENST00000430954;ENST00000343290	T;T	0.43688	0.94;0.94	5.85	4.96	0.65561	.	0.561680	0.20856	N	0.084450	T	0.25306	0.0615	N	0.08118	0	0.28841	N	0.89662	B;B;B	0.19583	0.037;0.0;0.01	B;B;B	0.21360	0.034;0.0;0.005	T	0.12451	-1.0547	10	0.30854	T	0.27	.	13.995	0.64390	0.0732:0.0:0.9268:0.0	.	98;140;98	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	I	98;140;140;140;98;98;140;98	ENSP00000283943:T98I;ENSP00000373696:T140I	ENSP00000283943:T98I	T	-	2	0	TRIP12	230432340	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.166000	0.58203	1.457000	0.47850	0.655000	0.94253	ACT	.	.		0.423	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
IQCA1	79781	hgsc.bcm.edu	37	2	237406078	237406078	+	Missense_Mutation	SNP	C	C	T	rs200469019	byFrequency	TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr2:237406078C>T	ENST00000409907.3	-	2	338	c.64G>A	c.(64-66)Gat>Aat	p.D22N	IQCA1_ENST00000309507.5_Missense_Mutation_p.D18N|IQCA1_ENST00000431676.2_Missense_Mutation_p.D22N	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	22							ATP binding (GO:0005524)	p.D22Y(1)|p.D29Y(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GGCTCTTTATCGAGTAAAGCA	0.373													C|||	3	0.000599042	0.0015	0.0	5008	,	,		18768	0.0		0.0	False		,,,				2504	0.001				p.D29N		Atlas-SNP	.											.	IQCA1	170	.	2	Substitution - Missense(2)	lung(2)	c.G85A						.	C	ASN/ASP	1,3673		0,1,1836	48.0	47.0	47.0		64	2.8	1.0	2		47	3,8173		0,3,4085	yes	missense	IQCA1	NM_024726.3	23	0,4,5921	TT,TC,CC		0.0367,0.0272,0.0338	benign	22/823	237406078	4,11846	1837	4088	5925	SO:0001583	missense	79781	exon2			CTTTATCGAGTAA	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.64G>A	chr2.hg19:g.237406078C>T	ENSP00000387347:p.Asp22Asn	125.0	0.0		157.0	36.0	NM_001270585	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	hg19	CCDS46549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.00|11.00	1.511138|1.511138	0.27036|0.27036	2.72E-4|2.72E-4	3.67E-4|3.67E-4	ENSG00000132321|ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437|ENST00000418802	D;D;D|.	0.94092|.	-3.22;-3.2;-3.35|.	5.52|5.52	2.75|2.75	0.32379|0.32379	.|.	0.514224|.	0.19401|.	N|.	0.115166|.	T|T	0.45256|0.45256	0.1333|0.1333	L|L	0.61387|0.61387	1.9|1.9	0.09310|0.09310	N|N	0.999999|0.999999	P;P;P|.	0.46656|.	0.882;0.8;0.882|.	B;B;B|.	0.35470|.	0.071;0.155;0.203|.	T|T	0.31110|0.31110	-0.9955|-0.9955	10|5	0.18276|.	T|.	0.48|.	.|.	7.8701|7.8701	0.29561|0.29561	0.0:0.4337:0.4111:0.1552|0.0:0.4337:0.4111:0.1552	.|.	22;29;22|.	E7EWQ0;E9PH78;Q86XH1|.	.;.;IQCA1_HUMAN|.	N|Q	22;29;18;22;18|40	ENSP00000387347:D22N;ENSP00000311951:D18N;ENSP00000407213:D22N|.	ENSP00000254653:D22N|.	D|R	-|-	1|2	0|0	IQCA1|IQCA1	237070817|237070817	0.000000|0.000000	0.05858|0.05858	0.973000|0.973000	0.42090|0.42090	0.597000|0.597000	0.36814|0.36814	0.995000|0.995000	0.29706|0.29706	0.293000|0.293000	0.22520|0.22520	0.655000|0.655000	0.94253|0.94253	GAT|CGA	.	.		0.373	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726	
CHL1	10752	hgsc.bcm.edu	37	3	361529	361529	+	Missense_Mutation	SNP	G	G	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr3:361529G>T	ENST00000256509.2	+	3	712	c.70G>T	c.(70-72)Gca>Tca	p.A24S	CHL1_ENST00000397491.2_Missense_Mutation_p.A24S	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATTCTCAAAAGCAATTGAAAT	0.338																																					p.A24S		Atlas-SNP	.											CHL1,NS,carcinoma,0,1	CHL1	242	.	0			c.G70T						.						56.0	58.0	58.0					3																	361529		2202	4300	6502	SO:0001583	missense	10752	exon1			TCAAAAGCAATTG	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.70G>T	chr3.hg19:g.361529G>T	ENSP00000256509:p.Ala24Ser	26.0	0.0		46.0	15.0	NM_001253388	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	hg19	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247105	0.80024	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000427688;ENST00000421198;ENST00000435603;ENST00000449294	T;T;T;T;T;T	0.68181	0.16;0.18;0.63;0.12;0.11;-0.31	4.91	4.91	0.64330	.	0.070339	0.56097	D	0.000031	T	0.53948	0.1828	N	0.08118	0	0.35902	D	0.83045	B;P;P	0.44006	0.014;0.525;0.824	B;B;P	0.45232	0.085;0.425;0.474	T	0.69723	-0.5068	10	0.87932	D	0	.	16.4499	0.83976	0.0:0.0:1.0:0.0	.	24;24;24	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	S	24	ENSP00000256509:A24S;ENSP00000380628:A24S;ENSP00000403311:A24S;ENSP00000413628:A24S;ENSP00000397445:A24S;ENSP00000390440:A24S	ENSP00000256509:A24S	A	+	1	0	CHL1	336529	0.983000	0.35010	0.119000	0.21687	0.622000	0.37654	5.364000	0.66110	2.535000	0.85469	0.655000	0.94253	GCA	.	.		0.338	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
GOLGA4	2803	hgsc.bcm.edu	37	3	37367438	37367438	+	Missense_Mutation	SNP	C	C	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr3:37367438C>A	ENST00000361924.2	+	14	4435	c.4061C>A	c.(4060-4062)gCt>gAt	p.A1354D	GOLGA4_ENST00000356847.4_Missense_Mutation_p.A1376D|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1354	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AACATCAATGCTGTCACATTG	0.363																																					p.A1376D		Atlas-SNP	.											.	GOLGA4	173	.	0			c.C4127A						.						31.0	31.0	31.0					3																	37367438		2203	4298	6501	SO:0001583	missense	2803	exon15			TCAATGCTGTCAC	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4061C>A	chr3.hg19:g.37367438C>A	ENSP00000354486:p.Ala1354Asp	106.0	0.0		125.0	44.0	NM_001172713	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	hg19	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745203	0.49151	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.31510	1.5;1.49;1.51	5.53	2.81	0.32909	.	0.451006	0.16518	N	0.210933	T	0.42200	0.1192	M	0.64997	1.995	0.33935	D	0.642502	D;D;D;D	0.63046	0.988;0.978;0.978;0.992	P;P;P;P	0.61201	0.885;0.628;0.628;0.69	T	0.49360	-0.8948	10	0.12766	T	0.61	.	8.6708	0.34149	0.0:0.6477:0.0:0.3523	.	1354;1354;1376;1354	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	D	1354;1376;1225	ENSP00000354486:A1354D;ENSP00000349305:A1376D;ENSP00000405842:A1225D	ENSP00000349305:A1376D	A	+	2	0	GOLGA4	37342442	0.959000	0.32827	0.980000	0.43619	0.972000	0.66771	0.862000	0.27899	0.315000	0.23110	-0.251000	0.11542	GCT	.	.		0.363	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
CTNNB1	1499	hgsc.bcm.edu	37	3	41274911	41274911	+	Missense_Mutation	SNP	T	T	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr3:41274911T>G	ENST00000349496.5	+	8	1441	c.1161T>G	c.(1159-1161)aaT>aaG	p.N387K	CTNNB1_ENST00000396183.3_Missense_Mutation_p.N387K|CTNNB1_ENST00000405570.1_Missense_Mutation_p.N387K|CTNNB1_ENST00000396185.3_Missense_Mutation_p.N387K|CTNNB1_ENST00000453024.1_Missense_Mutation_p.N380K	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	387					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.N387K(4)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTCTCAGGAATCTTTCAGATG	0.393		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												p.N387K	Colon(6;3 56 14213 18255)	Atlas-SNP	.		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	CTNNB1,NS,carcinoma,0,5	CTNNB1	4904	.	4	Substitution - Missense(4)	large_intestine(1)|prostate(1)|liver(1)|kidney(1)	c.T1161G						.						102.0	93.0	96.0					3																	41274911		2203	4300	6503	SO:0001583	missense	1499	exon8	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	CAGGAATCTTTCA	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1161T>G	chr3.hg19:g.41274911T>G	ENSP00000344456:p.Asn387Lys	112.0	0.0		130.0	45.0	NM_001098209	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	hg19	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723022	0.68959	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	5.72	1.33	0.21861	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90263	0.6955	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.88091	0.2813	10	0.54805	T	0.06	-10.1444	8.463	0.32938	0.0:0.3714:0.0:0.6286	.	315;387	B4DSW9;P35222	.;CTNB1_HUMAN	K	387;387;387;380;387	ENSP00000385604:N387K;ENSP00000379486:N387K;ENSP00000344456:N387K;ENSP00000411226:N380K;ENSP00000379488:N387K	ENSP00000344456:N387K	N	+	3	2	CTNNB1	41249915	0.995000	0.38212	0.998000	0.56505	0.998000	0.95712	0.358000	0.20216	0.227000	0.20999	0.533000	0.62120	AAT	.	.		0.393	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
CCDC71	64925	hgsc.bcm.edu	37	3	49200370	49200370	+	Silent	SNP	C	C	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr3:49200370C>A	ENST00000321895.6	-	2	1378	c.1272G>T	c.(1270-1272)ctG>ctT	p.L424L		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	424										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACGGAACTTCAGCAGCTTTG	0.577																																					p.L424L		Atlas-SNP	.											.	CCDC71	33	.	0			c.G1272T						.						95.0	89.0	91.0					3																	49200370		2203	4300	6503	SO:0001819	synonymous_variant	64925	exon2			GAACTTCAGCAGC	AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.1272G>T	chr3.hg19:g.49200370C>A		130.0	0.0		139.0	23.0	NM_022903	Q6IPE2|Q9H8H4|Q9H9F1	Silent	SNP	ENST00000321895.6	hg19	CCDS2790.1																																																																																			.	.		0.577	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1	NM_022903	
CCDC66	285331	hgsc.bcm.edu	37	3	56597778	56597778	+	Missense_Mutation	SNP	A	A	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr3:56597778A>G	ENST00000394672.3	+	4	239	c.169A>G	c.(169-171)Aca>Gca	p.T57A	CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000436465.2_Missense_Mutation_p.T57A|CCDC66_ENST00000326595.7_Missense_Mutation_p.T23A|CCDC66_ENST00000538560.1_Missense_Mutation_p.T57A	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	57					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TCTAAAATCAACACAAGATAC	0.343																																					p.T57A		Atlas-SNP	.											.	CCDC66	145	.	0			c.A169G						.						87.0	73.0	77.0					3																	56597778		692	1591	2283	SO:0001583	missense	285331	exon4			AAATCAACACAAG	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.169A>G	chr3.hg19:g.56597778A>G	ENSP00000378167:p.Thr57Ala	119.0	0.0		104.0	14.0	NM_001141947	B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	hg19	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.921548	0.52653	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465;ENST00000538560	D;D;D;D;D	0.99660	-6.32;-6.32;-6.32;-6.32;-6.32	5.53	5.53	0.82687	.	.	.	.	.	D	0.99354	0.9773	M	0.62723	1.935	0.28916	N	0.892418	D;D	0.65815	0.987;0.995	P;D	0.67548	0.907;0.952	D	0.98327	1.0531	9	0.59425	D	0.04	.	9.5103	0.39074	0.9201:0.0:0.0799:0.0	.	57;57	A2RUB6;A2RUB6-2	CCD66_HUMAN;.	A	57;57;23;57;57	ENSP00000401451:T57A;ENSP00000378167:T57A;ENSP00000326050:T23A;ENSP00000404320:T57A;ENSP00000444919:T57A	ENSP00000326050:T23A	T	+	1	0	CCDC66	56572818	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	2.439000	0.44846	2.097000	0.63578	0.496000	0.49642	ACA	.	.		0.343	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506	
SPATA18	132671	hgsc.bcm.edu	37	4	52948586	52948586	+	Silent	SNP	T	T	C			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr4:52948586T>C	ENST00000295213.4	+	10	1763	c.1389T>C	c.(1387-1389)gcT>gcC	p.A463A	SPATA18_ENST00000419395.2_Silent_p.A431A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	463					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ATTTCACTGCTCCCTTAGTCC	0.458																																					p.A463A		Atlas-SNP	.											.	SPATA18	222	.	0			c.T1389C						.						178.0	160.0	166.0					4																	52948586		2203	4300	6503	SO:0001819	synonymous_variant	132671	exon10			CACTGCTCCCTTA	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1389T>C	chr4.hg19:g.52948586T>C		76.0	0.0		63.0	21.0	NM_145263	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Silent	SNP	ENST00000295213.4	hg19	CCDS3489.1																																																																																			.	.		0.458	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263	
ALB	213	hgsc.bcm.edu	37	4	74270860	74270860	+	Missense_Mutation	SNP	A	A	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr4:74270860A>G	ENST00000295897.4	+	2	196	c.107A>G	c.(106-108)aAa>aGa	p.K36R	ALB_ENST00000509063.1_Missense_Mutation_p.K36R|ALB_ENST00000415165.2_Missense_Mutation_p.K36R|ALB_ENST00000503124.1_Intron|ALB_ENST00000401494.3_Missense_Mutation_p.K36R	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CATCGGTTTAAAGATTTGGGA	0.279																																					p.K36R		Atlas-SNP	.											.	ALB	132	.	0			c.A107G						.						74.0	78.0	77.0					4																	74270860		2203	4299	6502	SO:0001583	missense	213	exon2			GGTTTAAAGATTT	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.107A>G	chr4.hg19:g.74270860A>G	ENSP00000295897:p.Lys36Arg	201.0	0.0		223.0	48.0	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000295897.4	hg19	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	A	8.865	0.947970	0.18356	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000415165;ENST00000329326;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.74	5.65	1.74	0.24563	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.872881	0.10228	N	0.700042	T	0.64843	0.2635	L	0.41824	1.3	0.09310	N	1	P;B;B;B	0.48911	0.917;0.2;0.003;0.003	B;B;B;B	0.42319	0.383;0.224;0.007;0.013	T	0.54125	-0.8340	10	0.54805	T	0.06	-1.7265	7.5821	0.27972	0.6673:0.0:0.3327:0.0	.	36;36;36;36	B7WNR0;C9JKR2;A6NBZ8;P02768	.;.;.;ALBU_HUMAN	R	38;36;36;36;36;36;45	ENSP00000392541:K38R;ENSP00000295897:K36R;ENSP00000401820:K36R;ENSP00000422784:K36R;ENSP00000384695:K36R	ENSP00000295897:K36R	K	+	2	0	ALB	74489724	0.003000	0.15002	0.008000	0.14137	0.622000	0.37654	0.161000	0.16481	0.473000	0.27368	0.533000	0.62120	AAA	.	.		0.279	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477	
FRAS1	80144	hgsc.bcm.edu	37	4	79396668	79396668	+	Missense_Mutation	SNP	G	G	T	rs373757948		TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr4:79396668G>T	ENST00000264895.6	+	54	8199	c.7759G>T	c.(7759-7761)Gtc>Ttc	p.V2587F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2587	Calx-beta 1.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATATGCCATCGTCCTGTGTCG	0.567																																					p.V2587F		Atlas-SNP	.											.	FRAS1	779	.	0			c.G7759T						.						116.0	127.0	123.0					4																	79396668		2109	4241	6350	SO:0001583	missense	80144	exon54			GCCATCGTCCTGT	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7759G>T	chr4.hg19:g.79396668G>T	ENSP00000264895:p.Val2587Phe	100.0	0.0		83.0	30.0	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	hg19	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.257995|5.257995	0.95368|0.95368	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.57436	.|0.4	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80352|0.80352	0.4607|0.4607	M|M	0.92507|0.92507	3.315|3.315	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.85097|0.85097	0.0955|0.0955	5|10	.|0.87932	.|D	.|0	.|.	19.2863|19.2863	0.94072|0.94072	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2587	.|E9PHH6	.|.	L|F	815|2587	.|ENSP00000264895:V2587F	.|ENSP00000264895:V2587F	R|V	+|+	2|1	0|0	FRAS1|FRAS1	79615692|79615692	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	9.727000|9.727000	0.98787|0.98787	2.558000|2.558000	0.86282|0.86282	0.591000|0.591000	0.81541|0.81541	CGT|GTC	.	.		0.567	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
DSPP	1834	hgsc.bcm.edu	37	4	88536020	88536020	+	Missense_Mutation	SNP	G	G	A	rs201263760		TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr4:88536020G>A	ENST00000282478.7	+	4	2239	c.2206G>A	c.(2206-2208)Gac>Aac	p.D736N	DSPP_ENST00000399271.1_Missense_Mutation_p.D736N|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	736	Asp/Ser-rich.			Missing (in Ref. 1; AAF42472). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		cgatagcagtgacagcagcaa	0.498																																					p.D736N		Atlas-SNP	.											.	DSPP	174	.	0			c.G2206A						.						63.0	72.0	69.0					4																	88536020		1656	2933	4589	SO:0001583	missense	1834	exon5			AGCAGTGACAGCA	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2206G>A	chr4.hg19:g.88536020G>A	ENSP00000282478:p.Asp736Asn	111.0	0.0		147.0	17.0	NM_014208	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	hg19	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	g	9.288	1.049894	0.19827	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.89485	-2.52;-2.52	1.33	1.33	0.21861	.	.	.	.	.	D	0.86372	0.5917	N	0.20986	0.625	0.22081	N	0.999371	D	0.76494	0.999	D	0.74023	0.982	T	0.75393	-0.3333	9	0.11485	T	0.65	.	6.0839	0.19956	0.0:0.0:1.0:0.0	.	736	Q9NZW4	DSPP_HUMAN	N	736	ENSP00000382213:D736N;ENSP00000282478:D736N	ENSP00000282478:D736N	D	+	1	0	DSPP	88755044	0.000000	0.05858	0.660000	0.29694	0.008000	0.06430	-0.322000	0.08007	1.047000	0.40274	0.165000	0.16767	GAC	.	.		0.498	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
FAM13A	10144	hgsc.bcm.edu	37	4	89772242	89772242	+	Silent	SNP	T	T	C			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr4:89772242T>C	ENST00000264344.5	-	7	1143	c.936A>G	c.(934-936)ctA>ctG	p.L312L	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	312					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTCTATAACTTAGCCGCAAGC	0.463																																					p.L312L		Atlas-SNP	.											.	FAM13A	181	.	0			c.A936G						.						147.0	149.0	148.0					4																	89772242		2203	4300	6503	SO:0001819	synonymous_variant	10144	exon7			ATAACTTAGCCGC	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.936A>G	chr4.hg19:g.89772242T>C		57.0	0.0		62.0	13.0	NM_014883	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	hg19	CCDS34029.1																																																																																			.	.		0.463	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1		
UNC5C	8633	hgsc.bcm.edu	37	4	96141185	96141185	+	Silent	SNP	C	C	A	rs555624855		TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr4:96141185C>A	ENST00000453304.1	-	8	1599	c.1251G>T	c.(1249-1251)tcG>tcT	p.S417S	UNC5C_ENST00000506749.1_Silent_p.S436S	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	417					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CATTGAGTGCCGAAGAGTCAA	0.453																																					p.S417S		Atlas-SNP	.											.	UNC5C	141	.	0			c.G1251T						.						140.0	127.0	132.0					4																	96141185		2203	4300	6503	SO:0001819	synonymous_variant	8633	exon8			GAGTGCCGAAGAG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1251G>T	chr4.hg19:g.96141185C>A		189.0	0.0		196.0	73.0	NM_003728	Q8IUT0	Silent	SNP	ENST00000453304.1	hg19	CCDS3643.1																																																																																			.	.		0.453	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728	
ZNF827	152485	hgsc.bcm.edu	37	4	146696966	146696966	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr4:146696966C>T	ENST00000508784.1	-	10	2895	c.2668G>A	c.(2668-2670)Ggg>Agg	p.G890R	ZNF827_ENST00000379448.4_Missense_Mutation_p.G890R|ZNF827_ENST00000513320.1_Missense_Mutation_p.G540R			Q17R98	ZN827_HUMAN	zinc finger protein 827	890					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TGTTTCTTCCCATCACTGCCT	0.502																																					p.G890R		Atlas-SNP	.											.	ZNF827	102	.	0			c.G2668A						.						146.0	131.0	136.0					4																	146696966		2203	4300	6503	SO:0001583	missense	152485	exon10			TCTTCCCATCACT	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.2668G>A	chr4.hg19:g.146696966C>T	ENSP00000421863:p.Gly890Arg	59.0	0.0		59.0	21.0	NM_178835	B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.33	2.205115	0.39003	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.06933	3.34;3.24;3.37	5.82	5.82	0.92795	.	0.169058	0.56097	D	0.000025	T	0.03915	0.0110	N	0.03608	-0.345	0.41632	D	0.989023	B;B;B	0.20052	0.017;0.024;0.041	B;B;B	0.16722	0.011;0.007;0.016	T	0.47849	-0.9085	10	0.10111	T	0.7	-21.658	13.3128	0.60390	0.0:0.9281:0.0:0.0719	.	540;890;890	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	R	890;540;890;889;540	ENSP00000421863:G890R;ENSP00000423130:G540R;ENSP00000368761:G890R	ENSP00000281318:G889R	G	-	1	0	ZNF827	146916416	1.000000	0.71417	0.973000	0.42090	0.907000	0.53573	4.858000	0.62947	2.752000	0.94435	0.655000	0.94253	GGG	.	.		0.502	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835	
LRBA	987	hgsc.bcm.edu	37	4	151770044	151770044	+	Missense_Mutation	SNP	G	G	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr4:151770044G>A	ENST00000357115.3	-	26	4508	c.4265C>T	c.(4264-4266)tCt>tTt	p.S1422F	LRBA_ENST00000510413.1_Missense_Mutation_p.S1422F|LRBA_ENST00000535741.1_Missense_Mutation_p.S1422F|LRBA_ENST00000507224.1_Missense_Mutation_p.S1422F	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1422						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAAGCCAAGAGAACTTGCAAA	0.413																																					p.S1422F		Atlas-SNP	.											.	LRBA	253	.	0			c.C4265T						.						107.0	110.0	109.0					4																	151770044		2203	4300	6503	SO:0001583	missense	987	exon26			CCAAGAGAACTTG	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4265C>T	chr4.hg19:g.151770044G>A	ENSP00000349629:p.Ser1422Phe	164.0	0.0		192.0	77.0	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	hg19	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.649316|4.649316	0.87958|0.87958	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.60797	.|0.59;0.74;0.59;0.16	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77791|0.77791	0.4183|0.4183	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.994;0.996	.|P;D	.|0.63877	.|0.832;0.919	T|T	0.79429|0.79429	-0.1807|-0.1807	5|10	.|0.87932	.|D	.|0	.|.	20.2768|20.2768	0.98488|0.98488	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1422;1422	.|P50851;P50851-2	.|LRBA_HUMAN;.	F|F	75|1422	.|ENSP00000446299:S1422F;ENSP00000421552:S1422F;ENSP00000349629:S1422F;ENSP00000422180:S1422F	.|ENSP00000349629:S1422F	L|S	-|-	1|2	0|0	LRBA|LRBA	151989494|151989494	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.902000|7.902000	0.87389|0.87389	2.808000|2.808000	0.96608|0.96608	0.650000|0.650000	0.86243|0.86243	CTC|TCT	.	.		0.413	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
TAS2R1	50834	hgsc.bcm.edu	37	5	9629277	9629277	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr5:9629277T>A	ENST00000382492.2	-	1	1186	c.868A>T	c.(868-870)Aag>Tag	p.K290*	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	290					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGGAGGAACTTTTTTGCATTT	0.398																																					p.K290X		Atlas-SNP	.											.	TAS2R1	84	.	0			c.A868T						.						94.0	96.0	95.0					5																	9629277		2203	4300	6503	SO:0001587	stop_gained	50834	exon1			GGAACTTTTTTGC	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.868A>T	chr5.hg19:g.9629277T>A	ENSP00000371932:p.Lys290*	74.0	0.0		107.0	30.0	NM_019599	Q646G8	Nonsense_Mutation	SNP	ENST00000382492.2	hg19	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.998377	0.93227	.	.	ENSG00000169777	ENST00000382492	.	.	.	5.55	-1.09	0.09904	.	1.630680	0.03126	N	0.164526	.	.	.	.	.	.	0.29641	N	0.844734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7256	0.18010	0.0:0.2975:0.1337:0.5688	.	.	.	.	X	290	.	.	K	-	1	0	TAS2R1	9682277	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.451000	0.21779	-0.288000	0.09051	-0.261000	0.10672	AAG	.	.		0.398	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2		
EGFLAM	133584	hgsc.bcm.edu	37	5	38451432	38451432	+	Silent	SNP	A	A	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr5:38451432A>G	ENST00000354891.3	+	20	2929	c.2583A>G	c.(2581-2583)agA>agG	p.R861R	EGFLAM_ENST00000397202.2_Silent_p.R219R|EGFLAM_ENST00000336740.6_Silent_p.R619R|EGFLAM_ENST00000322350.5_Silent_p.R853R|EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000397210.3_5'UTR	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	861	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAGGATCAAGATCAAATGTGT	0.473																																					p.R861R	Colon(62;485 1295 3347 17454)	Atlas-SNP	.											.	EGFLAM	302	.	0			c.A2583G						.						231.0	210.0	217.0					5																	38451432		2203	4300	6503	SO:0001819	synonymous_variant	133584	exon20			ATCAAGATCAAAT	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2583A>G	chr5.hg19:g.38451432A>G		48.0	0.0		52.0	13.0	NM_001205301	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	hg19	CCDS56363.1																																																																																			.	.		0.473	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403	
HCN1	348980	hgsc.bcm.edu	37	5	45353238	45353238	+	Missense_Mutation	SNP	T	T	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr5:45353238T>A	ENST00000303230.4	-	5	1398	c.1341A>T	c.(1339-1341)gaA>gaT	p.E447D		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	447					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAGAATATTTTCCTCATCAA	0.343																																					p.E447D		Atlas-SNP	.											.	HCN1	298	.	0			c.A1341T						.						136.0	125.0	129.0					5																	45353238		2203	4297	6500	SO:0001583	missense	348980	exon5			AATATTTTCCTCA	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1341A>T	chr5.hg19:g.45353238T>A	ENSP00000307342:p.Glu447Asp	103.0	0.0		124.0	15.0	NM_021072		Missense_Mutation	SNP	ENST00000303230.4	hg19	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.370935	0.42003	.	.	ENSG00000164588	ENST00000303230	D	0.96774	-4.12	5.97	4.75	0.60458	Cyclic nucleotide-binding-like (1);	0.158012	0.43579	D	0.000558	D	0.92021	0.7472	L	0.28649	0.875	0.39107	D	0.961405	B	0.02656	0.0	B	0.01281	0.0	D	0.89005	0.3424	10	0.27082	T	0.32	.	12.3987	0.55399	0.0:0.0:0.3193:0.6807	.	447	O60741	HCN1_HUMAN	D	447	ENSP00000307342:E447D	ENSP00000307342:E447D	E	-	3	2	HCN1	45388995	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.116000	0.15561	2.281000	0.76405	0.533000	0.62120	GAA	.	.		0.343	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
CDC20B	166979	hgsc.bcm.edu	37	5	54468477	54468477	+	Splice_Site	SNP	T	T	C			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr5:54468477T>C	ENST00000381375.2	-	2	210	c.65A>G	c.(64-66)gAa>gGa	p.E22G	CDC20B_ENST00000296733.1_Splice_Site_p.E22G|MIR449A_ENST00000362113.1_RNA|MIR449C_ENST00000516047.1_RNA|CDC20B_ENST00000334206.5_Splice_Site_p.E22G|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000322374.6_Splice_Site_p.E22G|MIR449B_ENST00000384995.1_RNA			Q86Y33	CD20B_HUMAN	cell division cycle 20B	22										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CATGATACTTTCCTTTGAAAA	0.383																																					p.E22G		Atlas-SNP	.											.	CDC20B	61	.	0			c.A65G						.						123.0	127.0	125.0					5																	54468477		2203	4300	6503	SO:0001630	splice_region_variant	166979	exon2			ATACTTTCCTTTG	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.64-1A>G	chr5.hg19:g.54468477T>C		53.0	0.0		54.0	10.0	NM_001170402	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	hg19	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.193905	0.58017	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.3	4.11	0.48088	.	0.157480	0.30020	N	0.010618	T	0.46560	0.1399	L	0.54323	1.7	0.80722	D	1	D;D;P;D	0.59357	0.985;0.959;0.931;0.959	P;P;P;P	0.58130	0.833;0.675;0.476;0.675	T	0.40365	-0.9567	10	0.56958	D	0.05	-20.3119	9.0417	0.36322	0.0:0.0:0.186:0.814	.	22;22;22;22	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	G	22	ENSP00000335664:E22G;ENSP00000296733:E22G;ENSP00000370781:E22G;ENSP00000315720:E22G	ENSP00000296733:E22G	E	-	2	0	CDC20B	54504234	0.953000	0.32496	0.960000	0.40013	0.486000	0.33341	1.381000	0.34362	0.993000	0.38866	0.528000	0.53228	GAA	.	.		0.383	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623	Missense_Mutation
MAP3K1	4214	hgsc.bcm.edu	37	5	56178151	56178151	+	Missense_Mutation	SNP	C	C	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr5:56178151C>G	ENST00000399503.3	+	14	3124	c.3124C>G	c.(3124-3126)Ctt>Gtt	p.L1042V		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1042					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CTCAGATAAACTTTCCCCAGT	0.443																																					p.L1042V		Atlas-SNP	.											.	MAP3K1	355	.	0			c.C3124G						.						68.0	68.0	68.0					5																	56178151		1869	4093	5962	SO:0001583	missense	4214	exon14			GATAAACTTTCCC	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3124C>G	chr5.hg19:g.56178151C>G	ENSP00000382423:p.Leu1042Val	100.0	0.0		96.0	28.0	NM_005921		Missense_Mutation	SNP	ENST00000399503.3	hg19	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122964	0.56613	.	.	ENSG00000095015	ENST00000399503	T	0.72725	-0.68	5.71	4.83	0.62350	.	0.069806	0.64402	N	0.000019	T	0.68128	0.2967	L	0.54323	1.7	0.48632	D	0.999686	B	0.15141	0.012	B	0.12156	0.007	T	0.65340	-0.6192	10	0.54805	T	0.06	.	16.7333	0.85440	0.0:0.8706:0.1294:0.0	.	1042	Q13233	M3K1_HUMAN	V	1042	ENSP00000382423:L1042V	ENSP00000382423:L1042V	L	+	1	0	MAP3K1	56213908	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.711000	0.47177	1.399000	0.46721	-0.176000	0.13171	CTT	.	.		0.443	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	
TRIM36	55521	hgsc.bcm.edu	37	5	114506845	114506845	+	Intron	SNP	G	G	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr5:114506845G>T	ENST00000282369.3	-	2	185				TRIM36_ENST00000515104.1_5'Flank|TRIM36_ENST00000379618.2_Missense_Mutation_p.D46E|TRIM36_ENST00000513154.1_5'Flank|TRIM36_ENST00000514154.1_Intron	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36						acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTTGGGAGAAGTCTGTCGCTG	0.468																																					p.D46E		Atlas-SNP	.											.	TRIM36	126	.	0			c.C138A						.						172.0	183.0	180.0					5																	114506845		2202	4300	6502	SO:0001627	intron_variant	55521	exon2			GGAGAAGTCTGTC	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.64-7396C>A	chr5.hg19:g.114506845G>T		108.0	0.0		129.0	15.0	NM_001017397	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	hg19	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076378	0.36662	.	.	ENSG00000152503	ENST00000379618	.	.	.	2.46	-1.91	0.07641	.	.	.	.	.	T	0.25901	0.0631	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.28396	-1.0045	7	0.87932	D	0	.	1.8813	0.03228	0.1372:0.41:0.2677:0.1851	.	46	Q0P5Z9	.	E	46	.	ENSP00000368938:D46E	D	-	3	2	TRIM36	114534744	0.000000	0.05858	0.000000	0.03702	0.566000	0.35808	-0.525000	0.06214	-0.523000	0.06409	-0.238000	0.12139	GAC	.	.		0.468	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700	
CHSY3	337876	hgsc.bcm.edu	37	5	129241310	129241310	+	Missense_Mutation	SNP	A	A	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr5:129241310A>T	ENST00000305031.4	+	1	1146	c.788A>T	c.(787-789)gAt>gTt	p.D263V	CTC-575N7.1_ENST00000515569.1_RNA|CTC-575N7.1_ENST00000503616.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	263					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GCCGACGACGATGTCTACATC	0.572																																					p.D263V		Atlas-SNP	.											.	CHSY3	92	.	0			c.A788T						.						95.0	97.0	96.0					5																	129241310		2203	4300	6503	SO:0001583	missense	337876	exon1			ACGACGATGTCTA	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.788A>T	chr5.hg19:g.129241310A>T	ENSP00000302629:p.Asp263Val	49.0	0.0		62.0	22.0	NM_175856	B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	hg19	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	A	19.84	3.902331	0.72754	.	.	ENSG00000198108	ENST00000305031	D	0.98135	-4.74	3.59	3.59	0.41128	.	0.000000	0.36591	U	0.002502	D	0.99193	0.9720	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98501	1.0614	9	.	.	.	.	13.2228	0.59899	1.0:0.0:0.0:0.0	.	263	Q70JA7	CHSS3_HUMAN	V	263	ENSP00000302629:D263V	.	D	+	2	0	CHSY3	129269209	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.995000	0.93534	1.862000	0.54008	0.260000	0.18958	GAT	.	.		0.572	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856	
GLRA1	2741	hgsc.bcm.edu	37	5	151304062	151304062	+	Missense_Mutation	SNP	A	A	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr5:151304062A>G	ENST00000455880.2	-	1	335	c.49T>C	c.(49-51)Ttc>Ctc	p.F17L	GLRA1_ENST00000274576.4_Missense_Mutation_p.F17L|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_5'UTR			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	17					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TACCTGAAGAATACAATGGTC	0.458																																					p.F17L		Atlas-SNP	.											.	GLRA1	61	.	0			c.T49C						.						219.0	193.0	202.0					5																	151304062		2203	4300	6503	SO:0001583	missense	2741	exon1			TGAAGAATACAAT		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.49T>C	chr5.hg19:g.151304062A>G	ENSP00000411593:p.Phe17Leu	81.0	0.0		90.0	30.0	NM_000171	B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	hg19	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	A	9.666	1.145336	0.21288	.	.	ENSG00000145888	ENST00000274576;ENST00000455880	T;T	0.70516	-0.33;-0.49	5.13	5.13	0.70059	.	0.296801	0.32687	N	0.005765	T	0.47116	0.1428	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.45249	-0.9274	10	0.06757	T	0.87	.	13.5239	0.61584	1.0:0.0:0.0:0.0	.	17;17	P23415;P23415-2	GLRA1_HUMAN;.	L	17	ENSP00000274576:F17L;ENSP00000411593:F17L	ENSP00000274576:F17L	F	-	1	0	GLRA1	151284255	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.709000	0.68384	1.939000	0.56221	0.460000	0.39030	TTC	.	.		0.458	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1		
ERGIC1	57222	hgsc.bcm.edu	37	5	172359509	172359509	+	Silent	SNP	G	G	A	rs144844076	byFrequency	TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr5:172359509G>A	ENST00000393784.3	+	8	751	c.612G>A	c.(610-612)cgG>cgA	p.R204R		NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	204					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAAGCAGCGGTACTCCTACC	0.622											OREG0017050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R204R		Atlas-SNP	.											.	ERGIC1	35	.	0			c.G612A						.						74.0	58.0	63.0					5																	172359509		2203	4300	6503	SO:0001819	synonymous_variant	57222	exon8			GCAGCGGTACTCC	AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.612G>A	chr5.hg19:g.172359509G>A		47.0	0.0	237	50.0	5.0	NM_001031711	Q9H0L0|Q9H2J2|Q9ULN9	Silent	SNP	ENST00000393784.3	hg19	CCDS34292.1																																																																																			.	G|0.993;T|0.007		0.622	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252938.3	NM_020462	
RUFY1	80230	hgsc.bcm.edu	37	5	179023595	179023595	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr5:179023595C>T	ENST00000319449.4	+	13	1556	c.1544C>T	c.(1543-1545)gCt>gTt	p.A515V	RUFY1_ENST00000393438.2_Missense_Mutation_p.A407V|RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000437570.2_Missense_Mutation_p.A407V|RUFY1_ENST00000377001.2_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	515					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCAGGGGGCTGAGGAGCGG	0.622										HNSCC(44;0.11)																											p.A515V		Atlas-SNP	.											.	RUFY1	101	.	0			c.C1544T						.						75.0	90.0	85.0					5																	179023595		2188	4266	6454	SO:0001583	missense	80230	exon13			AGGGGGCTGAGGA	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1544C>T	chr5.hg19:g.179023595C>T	ENSP00000325594:p.Ala515Val	36.0	0.0		39.0	13.0	NM_025158	Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	hg19	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432322	0.43122	.	.	ENSG00000176783	ENST00000319449;ENST00000437570;ENST00000393438;ENST00000360569	T;T;T	0.56275	0.47;0.53;0.53	5.3	5.3	0.74995	.	0.101230	0.64402	D	0.000002	T	0.62792	0.2457	M	0.83483	2.645	0.80722	D	1	P	0.44260	0.83	P	0.45681	0.49	T	0.65228	-0.6219	10	0.36615	T	0.2	-16.0844	16.0344	0.80612	0.0:1.0:0.0:0.0	.	515	Q96T51	RUFY1_HUMAN	V	515;407;407;117	ENSP00000325594:A515V;ENSP00000390025:A407V;ENSP00000377087:A407V	ENSP00000325594:A515V	A	+	2	0	RUFY1	178956201	0.888000	0.30383	0.156000	0.22583	0.034000	0.12701	1.704000	0.37857	2.631000	0.89168	0.561000	0.74099	GCT	.	.		0.622	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451	
DSP	1832	hgsc.bcm.edu	37	6	7585457	7585457	+	Silent	SNP	G	G	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr6:7585457G>A	ENST00000379802.3	+	24	8303	c.7962G>A	c.(7960-7962)caG>caA	p.Q2654Q	DSP_ENST00000418664.2_Silent_p.Q2055Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2654	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGGAGGCTCAGGCCTGCACAG	0.557																																					p.Q2654Q		Atlas-SNP	.											.	DSP	306	.	0			c.G7962A						.						81.0	81.0	81.0					6																	7585457		2203	4300	6503	SO:0001819	synonymous_variant	1832	exon24			GGCTCAGGCCTGC	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7962G>A	chr6.hg19:g.7585457G>A		77.0	0.0		86.0	17.0	NM_004415	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	hg19	CCDS4501.1																																																																																			.	.		0.557	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
UHRF1BP1	54887	hgsc.bcm.edu	37	6	34827055	34827055	+	Silent	SNP	C	C	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr6:34827055C>G	ENST00000192788.5	+	14	3093	c.2922C>G	c.(2920-2922)tcC>tcG	p.S974S	UHRF1BP1_ENST00000452449.2_Silent_p.S974S	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	974							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CAGTAGAGTCCCTACAGGCCA	0.587																																					p.S974S		Atlas-SNP	.											.	UHRF1BP1	102	.	0			c.C2922G						.						41.0	44.0	43.0					6																	34827055		2043	4190	6233	SO:0001819	synonymous_variant	54887	exon14			AGAGTCCCTACAG	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2922C>G	chr6.hg19:g.34827055C>G		52.0	0.0		70.0	27.0	NM_017754	Q9NXE0	Silent	SNP	ENST00000192788.5	hg19	CCDS43455.1																																																																																			.	.		0.587	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754	
EFHC1	114327	hgsc.bcm.edu	37	6	52334232	52334232	+	Silent	SNP	G	G	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr6:52334232G>A	ENST00000371068.5	+	7	1342	c.1239G>A	c.(1237-1239)ctG>ctA	p.L413L	EFHC1_ENST00000433625.2_Silent_p.L322L|EFHC1_ENST00000538167.1_Silent_p.L394L	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	413						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TTAAAATGCTGGTGAATGATA	0.358																																					p.L413L		Atlas-SNP	.											.	EFHC1	68	.	0			c.G1239A						.						134.0	134.0	134.0					6																	52334232		2203	4300	6503	SO:0001819	synonymous_variant	114327	exon7			AATGCTGGTGAAT	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1239G>A	chr6.hg19:g.52334232G>A		64.0	0.0		61.0	19.0	NM_018100	B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	ENST00000371068.5	hg19	CCDS4942.1																																																																																			.	.		0.358	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100	
RAB23	51715	hgsc.bcm.edu	37	6	57055398	57055398	+	Splice_Site	SNP	C	C	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr6:57055398C>A	ENST00000317483.3	-	7	1194	c.575G>T	c.(574-576)gGt>gTt	p.G192V	RAB23_ENST00000468148.1_Splice_Site_p.G192V	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	192					autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATTAAAGACACCTGTATAAAT	0.408																																					p.G192V		Atlas-SNP	.											.	RAB23	22	.	0			c.G575T						.						127.0	120.0	123.0					6																	57055398		2203	4300	6503	SO:0001630	splice_region_variant	51715	exon7			AAGACACCTGTAT	AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"""RAB, member RAS oncogene"""	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.575-1G>T	chr6.hg19:g.57055398C>A		95.0	0.0		93.0	34.0	NM_016277	B2R9I5|Q68DJ6|Q8NI06|Q9P023	Missense_Mutation	SNP	ENST00000317483.3	hg19	CCDS4962.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062151	0.76187	.	.	ENSG00000112210	ENST00000317483;ENST00000468148	T;T	0.65364	-0.15;-0.15	5.69	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.60495	0.2273	M	0.66939	2.045	0.80722	D	1	D	0.57899	0.981	P	0.50136	0.632	T	0.63079	-0.6717	10	0.46703	T	0.11	.	15.0545	0.71904	0.0:0.9305:0.0:0.0695	.	192	Q9ULC3	RAB23_HUMAN	V	192	ENSP00000320413:G192V;ENSP00000417610:G192V	ENSP00000320413:G192V	G	-	2	0	RAB23	57163357	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.384000	0.79751	2.687000	0.91594	0.462000	0.41574	GGT	.	.		0.408	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041042.1		Missense_Mutation
FILIP1	27145	hgsc.bcm.edu	37	6	76024199	76024199	+	Missense_Mutation	SNP	G	G	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr6:76024199G>A	ENST00000237172.7	-	5	1679	c.1349C>T	c.(1348-1350)aCc>aTc	p.T450I	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.T351I|FILIP1_ENST00000393004.2_Missense_Mutation_p.T450I	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	450										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ATGTAGCTGGGTGCACTCAGA	0.383																																					p.T450I		Atlas-SNP	.											.	FILIP1	173	.	0			c.C1349T						.						139.0	140.0	140.0					6																	76024199		2203	4300	6503	SO:0001583	missense	27145	exon5			AGCTGGGTGCACT	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1349C>T	chr6.hg19:g.76024199G>A	ENSP00000237172:p.Thr450Ile	201.0	0.0		227.0	70.0	NM_015687	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	hg19	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	8.453	0.853420	0.17106	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.19938	2.11;2.11;2.11	5.65	4.75	0.60458	.	0.375966	0.30979	N	0.008488	T	0.11067	0.0270	L	0.50333	1.59	0.31760	N	0.633495	B;B;B	0.23735	0.09;0.047;0.078	B;B;B	0.26614	0.057;0.032;0.071	T	0.08391	-1.0724	10	0.35671	T	0.21	-4.7858	15.9068	0.79436	0.0:0.0:0.8636:0.1364	.	450;450;450	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	I	450;450;351	ENSP00000376728:T450I;ENSP00000237172:T450I;ENSP00000359037:T351I	ENSP00000237172:T450I	T	-	2	0	FILIP1	76080919	0.890000	0.30428	0.966000	0.40874	0.988000	0.76386	4.651000	0.61447	1.454000	0.47793	0.655000	0.94253	ACC	.	.		0.383	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
ARMC2	84071	hgsc.bcm.edu	37	6	109190048	109190048	+	Missense_Mutation	SNP	C	C	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr6:109190048C>G	ENST00000392644.4	+	4	481	c.313C>G	c.(313-315)Ccc>Gcc	p.P105A	ARMC2_ENST00000368972.3_5'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	105										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TCCAGCATCTCCCACCAGAGA	0.483																																					p.P105A		Atlas-SNP	.											.	ARMC2	56	.	0			c.C313G						.						48.0	50.0	49.0					6																	109190048		2203	4300	6503	SO:0001583	missense	84071	exon4			GCATCTCCCACCA	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.313C>G	chr6.hg19:g.109190048C>G	ENSP00000376417:p.Pro105Ala	56.0	0.0		49.0	16.0	NM_032131	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	hg19	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	C	0.513	-0.865466	0.02590	.	.	ENSG00000118690	ENST00000392644;ENST00000237512	T;T	0.41758	0.99;0.99	5.41	3.61	0.41365	.	0.434509	0.25352	N	0.031300	T	0.13841	0.0335	M	0.63428	1.95	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.23119	-1.0197	10	0.02654	T	1	.	5.282	0.15680	0.0:0.6513:0.1699:0.1788	.	105	Q8NEN0	ARMC2_HUMAN	A	105	ENSP00000376417:P105A;ENSP00000237512:P105A	ENSP00000237512:P105A	P	+	1	0	ARMC2	109296741	0.994000	0.37717	0.991000	0.47740	0.409000	0.31022	1.102000	0.31050	1.411000	0.46957	0.655000	0.94253	CCC	.	.		0.483	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131	
ACAT2	39	hgsc.bcm.edu	37	6	160196295	160196295	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr6:160196295C>T	ENST00000367048.4	+	5	2344	c.584C>T	c.(583-585)gCt>gTt	p.A195V	ACAT2_ENST00000541436.1_Missense_Mutation_p.A224V	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	195					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCACAGAAAGCTGGCCATTTT	0.398																																					p.A195V		Atlas-SNP	.											.	ACAT2	32	.	0			c.C584T						.						107.0	96.0	100.0					6																	160196295		2203	4300	6503	SO:0001583	missense	39	exon5			AGAAAGCTGGCCA	AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	100678	"""acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)"", ""acetyl-Coenzyme A acetyltransferase 2"""			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.584C>T	chr6.hg19:g.160196295C>T	ENSP00000356015:p.Ala195Val	67.0	0.0		70.0	18.0	NM_005891	B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Missense_Mutation	SNP	ENST00000367048.4	hg19	CCDS5268.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155988	0.94686	.	.	ENSG00000120437	ENST00000367048;ENST00000541436	T;T	0.53206	0.63;0.63	5.65	5.65	0.86999	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.049163	0.85682	D	0.000000	T	0.60663	0.2286	M	0.90542	3.125	0.53688	D	0.999974	P;P	0.51449	0.945;0.858	P;P	0.48677	0.586;0.586	T	0.71041	-0.4707	10	0.72032	D	0.01	-0.049	19.7278	0.96172	0.0:1.0:0.0:0.0	.	224;195	B7Z233;Q9BWD1	.;THIC_HUMAN	V	195;224	ENSP00000356015:A195V;ENSP00000437850:A224V	ENSP00000356015:A195V	A	+	2	0	ACAT2	160116285	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	5.504000	0.66968	2.681000	0.91329	0.563000	0.77884	GCT	.	.		0.398	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042912.1	NM_005891	
STEAP2	261729	hgsc.bcm.edu	37	7	89854507	89854507	+	Silent	SNP	A	A	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr7:89854507A>G	ENST00000287908.3	+	2	504	c.111A>G	c.(109-111)ggA>ggG	p.G37G	STEAP2_ENST00000394621.2_Silent_p.G37G|STEAP2_ENST00000394632.1_Silent_p.G37G|STEAP2_ENST00000394626.1_Silent_p.G37G|STEAP2_ENST00000394622.2_Silent_p.G37G|STEAP2_ENST00000402625.2_Silent_p.G37G|STEAP2_ENST00000394629.2_Silent_p.G37G	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	37					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					GTGTGATTGGAAGTGGAGATT	0.393																																					p.G37G		Atlas-SNP	.											.	STEAP2	78	.	0			c.A111G						.						213.0	184.0	194.0					7																	89854507		2203	4300	6503	SO:0001819	synonymous_variant	261729	exon3			GATTGGAAGTGGA	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.111A>G	chr7.hg19:g.89854507A>G		177.0	0.0		191.0	50.0	NM_001244946	A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Silent	SNP	ENST00000287908.3	hg19	CCDS5615.1																																																																																			.	.		0.393	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999	
RELN	5649	hgsc.bcm.edu	37	7	103159876	103159876	+	Missense_Mutation	SNP	T	T	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr7:103159876T>A	ENST00000428762.1	-	49	7915	c.7756A>T	c.(7756-7758)Aca>Tca	p.T2586S	RELN_ENST00000424685.2_Missense_Mutation_p.T2586S|RELN_ENST00000343529.5_Missense_Mutation_p.T2586S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2586					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGTTTGGTGTAATCAGGCAC	0.398																																					p.T2586S	NSCLC(146;835 1944 15585 22231 52158)	Atlas-SNP	.											.	RELN	593	.	0			c.A7756T						.						143.0	117.0	126.0					7																	103159876		2203	4300	6503	SO:0001583	missense	5649	exon49			TTGGTGTAATCAG		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7756A>T	chr7.hg19:g.103159876T>A	ENSP00000392423:p.Thr2586Ser	95.0	0.0		121.0	16.0	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	hg19	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	12.61	1.991048	0.35131	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.19532	2.14;2.14;2.14	5.87	1.95	0.26073	Neuraminidase (2);	0.252057	0.46758	N	0.000271	T	0.10121	0.0248	N	0.11427	0.14	0.28758	N	0.901063	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.19778	-1.0295	10	0.32370	T	0.25	.	8.8871	0.35409	0.1175:0.0:0.246:0.6365	.	2586;2586	P78509-2;P78509	.;RELN_HUMAN	S	2586;2586;2586;103;2586	ENSP00000392423:T2586S;ENSP00000345694:T2586S;ENSP00000388446:T2586S	ENSP00000345694:T2586S	T	-	1	0	RELN	102947112	0.995000	0.38212	0.992000	0.48379	0.994000	0.84299	0.967000	0.29344	0.075000	0.16796	0.533000	0.62120	ACA	.	.		0.398	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
OR2A12	346525	hgsc.bcm.edu	37	7	143792372	143792372	+	Missense_Mutation	SNP	A	A	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr7:143792372A>G	ENST00000408949.2	+	1	232	c.172A>G	c.(172-174)Atg>Gtg	p.M58V		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GCACACACCCATGTATGTCTT	0.458																																					p.M58V		Atlas-SNP	.											.	OR2A12	56	.	0			c.A172G						.						169.0	163.0	165.0					7																	143792372		2074	4239	6313	SO:0001583	missense	346525	exon1			ACACCCATGTATG		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.172A>G	chr7.hg19:g.143792372A>G	ENSP00000386174:p.Met58Val	131.0	0.0		131.0	44.0	NM_001004135	Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	hg19	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.065236	0.36470	.	.	ENSG00000221858	ENST00000408949	T	0.09350	2.99	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.26376	0.0644	M	0.92649	3.33	0.37891	D	0.930715	P	0.46706	0.883	P	0.45856	0.495	T	0.44159	-0.9346	9	0.87932	D	0	-32.7291	11.3678	0.49681	1.0:0.0:0.0:0.0	.	58	Q8NGT7	O2A12_HUMAN	V	58	ENSP00000386174:M58V	ENSP00000386174:M58V	M	+	1	0	OR2A12	143423305	1.000000	0.71417	0.997000	0.53966	0.040000	0.13550	5.914000	0.69964	1.788000	0.52465	0.413000	0.27773	ATG	.	.		0.458	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1		
PTPRN2	5799	hgsc.bcm.edu	37	7	157369433	157369433	+	Missense_Mutation	SNP	G	G	C			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr7:157369433G>C	ENST00000389418.4	-	19	2664	c.2655C>G	c.(2653-2655)ttC>ttG	p.F885L	PTPRN2_ENST00000409483.1_Missense_Mutation_p.F847L|PTPRN2_ENST00000389413.3_Missense_Mutation_p.F856L|PTPRN2_ENST00000389416.4_Missense_Mutation_p.F868L|MIR153-2_ENST00000385225.1_RNA|PTPRN2_ENST00000404321.2_Missense_Mutation_p.F908L	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	885	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCCTCACCAGGAAGTCCTCAC	0.577																																					p.F885L		Atlas-SNP	.											.	PTPRN2	243	.	0			c.C2655G						.						75.0	57.0	63.0					7																	157369433		2203	4300	6503	SO:0001583	missense	5799	exon19			CACCAGGAAGTCC	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2655C>G	chr7.hg19:g.157369433G>C	ENSP00000374069:p.Phe885Leu	40.0	0.0		41.0	9.0	NM_002847	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	hg19	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511035	0.85389	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	5.44	3.63	0.41609	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	L	0.58969	1.84	0.52501	D	0.999955	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.994	D;D;D;D;D	0.91635	0.971;0.974;0.956;0.999;0.947	T	0.00849	-1.1541	10	0.87932	D	0	.	11.8231	0.52250	0.2035:0.0:0.7965:0.0	.	908;847;856;868;885	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	L	847;856;868;885;908	ENSP00000387114:F847L;ENSP00000374064:F856L;ENSP00000374067:F868L;ENSP00000374069:F885L;ENSP00000385464:F908L	ENSP00000374064:F856L	F	-	3	2	PTPRN2	157062194	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	3.898000	0.56281	0.288000	0.22398	-0.813000	0.03139	TTC	.	.		0.577	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		
CSMD1	64478	hgsc.bcm.edu	37	8	3063095	3063095	+	Missense_Mutation	SNP	G	G	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr8:3063095G>T	ENST00000520002.1	-	32	5473	c.4918C>A	c.(4918-4920)Cca>Aca	p.P1640T	CSMD1_ENST00000539096.1_Missense_Mutation_p.P1639T|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1639T|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1639T|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1640T|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1640T|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1640T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1640	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGTAGTTTGGTGATAAAACT	0.428																																					p.P1639T		Atlas-SNP	.											.	CSMD1	1469	.	0			c.C4915A						.						68.0	66.0	67.0					8																	3063095		1858	4091	5949	SO:0001583	missense	64478	exon31			AGTTTGGTGATAA			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4918C>A	chr8.hg19:g.3063095G>T	ENSP00000430733:p.Pro1640Thr	31.0	0.0		26.0	18.0	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.058554|4.058554	0.76074|0.76074	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.68181|.	-0.31;-0.31;-0.31;-0.31;-0.31|.	5.28|5.28	5.28|5.28	0.74379|0.74379	CUB (5);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.88247|0.88247	0.6385|0.6385	H|H	0.95917|0.95917	3.74|3.74	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	D|D	0.91737|0.91737	0.5401|0.5401	10|5	0.51188|.	T|.	0.08|.	.|.	19.2736|19.2736	0.94021|0.94021	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1640;1640;1640|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	T|N	1640;1640;1502;1639;1639;1639|1119	ENSP00000383047:P1640T;ENSP00000430733:P1640T;ENSP00000441462:P1639T;ENSP00000446243:P1639T;ENSP00000441675:P1639T|.	ENSP00000320445:P1502T|.	P|T	-|-	1|2	0|0	CSMD1|CSMD1	3050502|3050502	1.000000|1.000000	0.71417|0.71417	0.195000|0.195000	0.23364|0.23364	0.568000|0.568000	0.35870|0.35870	9.576000|9.576000	0.98192|0.98192	2.617000|2.617000	0.88574|0.88574	0.655000|0.655000	0.94253|0.94253	CCA|ACC	.	.		0.428	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CNGB3	54714	hgsc.bcm.edu	37	8	87645119	87645119	+	Missense_Mutation	SNP	T	T	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr8:87645119T>G	ENST00000320005.5	-	11	1228	c.1181A>C	c.(1180-1182)tAt>tCt	p.Y394S		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	394					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ACATCTCAGATACCTGTGAAA	0.299																																					p.Y394S		Atlas-SNP	.											.	CNGB3	176	.	0			c.A1181C						.						56.0	56.0	56.0					8																	87645119		2203	4299	6502	SO:0001583	missense	54714	exon11			CTCAGATACCTGT	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1181A>C	chr8.hg19:g.87645119T>G	ENSP00000316605:p.Tyr394Ser	172.0	0.0		243.0	77.0	NM_019098	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	hg19	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703202	0.68501	.	.	ENSG00000170289	ENST00000320005	D	0.97941	-4.62	5.12	5.12	0.69794	.	0.069289	0.64402	D	0.000016	D	0.98720	0.9570	M	0.87971	2.92	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70016	0.945;0.967	D	0.99795	1.1033	10	0.87932	D	0	.	15.1974	0.73104	0.0:0.0:0.0:1.0	.	394;394	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	S	394	ENSP00000316605:Y394S	ENSP00000316605:Y394S	Y	-	2	0	CNGB3	87714235	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	6.260000	0.72502	2.052000	0.61016	0.477000	0.44152	TAT	.	.		0.299	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	
RRM2B	50484	hgsc.bcm.edu	37	8	103237178	103237178	+	Silent	SNP	G	G	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr8:103237178G>T	ENST00000251810.3	-	4	633	c.390C>A	c.(388-390)atC>atA	p.I130I	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Silent_p.I78I	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	130					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	GAACATTCTCGATGAGAATTT	0.388								Modulation of nucleotide pools																													p.I202I		Atlas-SNP	.											.	RRM2B	31	.	0			c.C606A						.						85.0	82.0	83.0					8																	103237178		2203	4300	6503	SO:0001819	synonymous_variant	50484	exon4			ATTCTCGATGAGA	AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.390C>A	chr8.hg19:g.103237178G>T		71.0	0.0		162.0	33.0	NM_001172477	B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Silent	SNP	ENST00000251810.3	hg19	CCDS34932.1																																																																																			.	.		0.388	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3		
FAM84B	157638	hgsc.bcm.edu	37	8	127568717	127568717	+	Missense_Mutation	SNP	C	C	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr8:127568717C>G	ENST00000304916.3	-	2	1373	c.918G>C	c.(916-918)gaG>gaC	p.E306D	RP11-89K10.1_ENST00000519880.1_RNA|RP11-103H7.5_ENST00000524320.1_RNA|RP11-89K10.1_ENST00000517773.1_RNA|FAM84B_ENST00000517458.1_5'Flank|RP11-89K10.1_ENST00000520512.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	306						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			GTGCCACTGCCTCTCCGTCCT	0.687																																					p.E306D		Atlas-SNP	.											.	FAM84B	19	.	0			c.G918C						.						11.0	11.0	11.0					8																	127568717		2190	4276	6466	SO:0001583	missense	157638	exon2			CACTGCCTCTCCG	AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"""breast cancer membrane-associated protein 101"", ""neurological/sensory 2"""	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.918G>C	chr8.hg19:g.127568717C>G	ENSP00000302578:p.Glu306Asp	49.0	0.0		70.0	7.0	NM_174911		Missense_Mutation	SNP	ENST00000304916.3	hg19	CCDS6358.1	.	.	.	.	.	.	.	.	.	.	C	5.018	0.188932	0.09547	.	.	ENSG00000168672	ENST00000304916	T	0.44482	0.92	4.2	1.27	0.21489	.	1.206040	0.06305	N	0.701618	T	0.17023	0.0409	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17684	-1.0361	10	0.42905	T	0.14	-1.678	2.9417	0.05833	0.1832:0.5381:0.1776:0.1011	.	306	Q96KN1	FA84B_HUMAN	D	306	ENSP00000302578:E306D	ENSP00000302578:E306D	E	-	3	2	FAM84B	127637899	0.001000	0.12720	0.001000	0.08648	0.408000	0.30992	-0.235000	0.09016	0.145000	0.18977	0.558000	0.71614	GAG	.	.		0.687	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381487.1	NM_174911	
ADCY8	114	hgsc.bcm.edu	37	8	132051783	132051783	+	Missense_Mutation	SNP	A	A	C			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr8:132051783A>C	ENST00000286355.5	-	1	2889	c.797T>G	c.(796-798)cTc>cGc	p.L266R	ADCY8_ENST00000377928.3_Missense_Mutation_p.L266R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	266					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTCGCCCAGGAGCCCGTAGCC	0.667										HNSCC(32;0.087)																											p.L266R		Atlas-SNP	.											.	ADCY8	291	.	0			c.T797G						.						46.0	41.0	43.0					8																	132051783		2203	4299	6502	SO:0001583	missense	114	exon1			CCCAGGAGCCCGT	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.797T>G	chr8.hg19:g.132051783A>C	ENSP00000286355:p.Leu266Arg	53.0	0.0		95.0	20.0	NM_001115		Missense_Mutation	SNP	ENST00000286355.5	hg19	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.448196	0.43429	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.44482	0.92;0.92	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000003	T	0.48696	0.1514	L	0.54323	1.7	0.47778	D	0.99951	D;D	0.64830	0.994;0.984	P;P	0.52109	0.69;0.69	T	0.38845	-0.9642	10	0.23302	T	0.38	.	14.7078	0.69203	1.0:0.0:0.0:0.0	.	266;266	E7EVL1;P40145	.;ADCY8_HUMAN	R	266	ENSP00000286355:L266R;ENSP00000367161:L266R	ENSP00000286355:L266R	L	-	2	0	ADCY8	132120965	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.932000	0.92897	2.085000	0.62840	0.374000	0.22700	CTC	.	.		0.667	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
CA9	768	hgsc.bcm.edu	37	9	35674288	35674288	+	Missense_Mutation	SNP	A	A	C			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr9:35674288A>C	ENST00000378357.4	+	1	436	c.332A>C	c.(331-333)gAg>gCg	p.E111A	RN7SL22P_ENST00000471800.2_RNA	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	111	Proteoglycan-like (PG).				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CTGAAGTTAGAGGATCTACCT	0.502																																					p.E111A		Atlas-SNP	.											.	CA9	48	.	0			c.A332C						.						64.0	56.0	59.0					9																	35674288		2203	4300	6503	SO:0001583	missense	768	exon1			AGTTAGAGGATCT	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.332A>C	chr9.hg19:g.35674288A>C	ENSP00000367608:p.Glu111Ala	68.0	0.0		67.0	19.0	NM_001216	Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	hg19	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	A	33	5.211180	0.95069	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.68765	-0.35	4.68	4.68	0.58851	.	2.002980	0.02927	N	0.138752	T	0.76835	0.4043	L	0.34521	1.04	0.40649	D	0.982014	D;D	0.67145	0.996;0.993	D;D	0.76071	0.987;0.984	T	0.63444	-0.6636	10	0.87932	D	0	.	10.7273	0.46077	1.0:0.0:0.0:0.0	.	111;111	F5H404;Q16790	.;CAH9_HUMAN	A	111	ENSP00000367608:E111A	ENSP00000367608:E111A	E	+	2	0	CA9	35664288	1.000000	0.71417	0.986000	0.45419	0.953000	0.61014	3.996000	0.57009	2.107000	0.64212	0.533000	0.62120	GAG	.	.		0.502	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216	
STXBP1	6812	hgsc.bcm.edu	37	9	130428513	130428513	+	Silent	SNP	C	C	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr9:130428513C>A	ENST00000373299.1	+	9	847	c.732C>A	c.(730-732)ctC>ctA	p.L244L	STXBP1_ENST00000373302.3_Silent_p.L244L	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	244					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CCCCTGTGCTCCATGAATTGA	0.507																																					p.L244L		Atlas-SNP	.											.	STXBP1	99	.	0			c.C732A						.						110.0	94.0	99.0					9																	130428513		2203	4300	6503	SO:0001819	synonymous_variant	6812	exon9			TGTGCTCCATGAA	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.732C>A	chr9.hg19:g.130428513C>A		53.0	0.0		54.0	17.0	NM_001032221	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Silent	SNP	ENST00000373299.1	hg19	CCDS35146.1																																																																																			.	.		0.507	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165	
SLC39A12	221074	hgsc.bcm.edu	37	10	18292223	18292223	+	Missense_Mutation	SNP	G	G	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr10:18292223G>A	ENST00000377369.2	+	12	2156	c.1883G>A	c.(1882-1884)tGt>tAt	p.C628Y	SLC39A12_ENST00000377374.4_Missense_Mutation_p.C591Y|SLC39A12_ENST00000539911.1_Missense_Mutation_p.C494Y|SLC39A12_ENST00000377371.3_Missense_Mutation_p.C627Y|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12-AS1_ENST00000439319.1_RNA	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	628					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GCTGATCCATGTGTTCAAGAC	0.403																																					p.C628Y		Atlas-SNP	.											SLC39A12,NS,carcinoma,0,3	SLC39A12	181	.	0			c.G1883A						.						190.0	170.0	177.0					10																	18292223		2203	4300	6503	SO:0001583	missense	221074	exon12			ATCCATGTGTTCA		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1883G>A	chr10.hg19:g.18292223G>A	ENSP00000366586:p.Cys628Tyr	123.0	0.0		163.0	65.0	NM_001145195	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	hg19	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	4.923	0.171439	0.09391	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.48	2.55	0.30701	.	0.564365	0.20942	N	0.082903	T	0.48786	0.1519	L	0.43152	1.355	0.09310	N	1	D;P;D	0.61080	0.98;0.829;0.989	P;P;P	0.56700	0.627;0.699;0.804	T	0.33854	-0.9852	10	0.56958	D	0.05	-0.9601	6.163	0.20373	0.2061:0.2502:0.5437:0.0	.	627;628;591	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	Y	628;591;627;494;548	ENSP00000366586:C628Y;ENSP00000366591:C591Y;ENSP00000366588:C627Y;ENSP00000440445:C494Y	ENSP00000366586:C628Y	C	+	2	0	SLC39A12	18332229	0.027000	0.19231	0.035000	0.18076	0.092000	0.18411	1.629000	0.37071	0.342000	0.23796	0.655000	0.94253	TGT	.	.		0.403	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725	
MYO3A	53904	hgsc.bcm.edu	37	10	26436361	26436361	+	Silent	SNP	C	C	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr10:26436361C>A	ENST00000265944.5	+	23	2674	c.2508C>A	c.(2506-2508)gtC>gtA	p.V836V	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	836	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V836V(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCAACAGGTCCTCTATAATG	0.398																																					p.V836V		Atlas-SNP	.											MYO3A,NS,carcinoma,0,1	MYO3A	371	.	1	Substitution - coding silent(1)	lung(1)	c.C2508A						.						172.0	145.0	154.0					10																	26436361		2203	4300	6503	SO:0001819	synonymous_variant	53904	exon23			ACAGGTCCTCTAT	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2508C>A	chr10.hg19:g.26436361C>A		92.0	0.0		106.0	14.0	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	hg19	CCDS7148.1																																																																																			.	.		0.398	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
MYO3A	53904	hgsc.bcm.edu	37	10	26465727	26465727	+	Missense_Mutation	SNP	A	A	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr10:26465727A>G	ENST00000265944.5	+	31	4557	c.4391A>G	c.(4390-4392)cAc>cGc	p.H1464R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1464					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGTGTCTCGCACCATAAGCCA	0.368																																					p.H1464R		Atlas-SNP	.											.	MYO3A	371	.	0			c.A4391G						.						94.0	89.0	91.0					10																	26465727		2203	4300	6503	SO:0001583	missense	53904	exon31			TCTCGCACCATAA	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4391A>G	chr10.hg19:g.26465727A>G	ENSP00000265944:p.His1464Arg	102.0	0.0		85.0	21.0	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	hg19	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	4.844	0.156822	0.09236	.	.	ENSG00000095777	ENST00000265944	T	0.75704	-0.96	5.91	0.231	0.15377	.	0.659750	0.16573	N	0.208532	T	0.37544	0.1007	N	0.02011	-0.69	0.25573	N	0.986879	B	0.02656	0.0	B	0.01281	0.0	T	0.29610	-1.0006	10	0.07990	T	0.79	.	3.8862	0.09099	0.4889:0.2294:0.2066:0.0751	.	1464	Q8NEV4	MYO3A_HUMAN	R	1464	ENSP00000265944:H1464R	ENSP00000265944:H1464R	H	+	2	0	MYO3A	26505733	0.096000	0.21769	0.417000	0.26559	0.897000	0.52465	0.106000	0.15354	0.036000	0.15547	-0.219000	0.12488	CAC	.	.		0.368	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
ZNF488	118738	hgsc.bcm.edu	37	10	48371172	48371172	+	Missense_Mutation	SNP	G	G	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr10:48371172G>A	ENST00000395702.2	+	2	867	c.640G>A	c.(640-642)Gtt>Att	p.V214I	ZNF488_ENST00000586537.1_Missense_Mutation_p.V107I|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	214					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CAAGCTTTTGGTTGGTGATTT	0.552																																					p.V214I		Atlas-SNP	.											.	ZNF488	38	.	0			c.G640A						.						134.0	128.0	130.0					10																	48371172		2203	4300	6503	SO:0001583	missense	118738	exon2			CTTTTGGTTGGTG	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.640G>A	chr10.hg19:g.48371172G>A	ENSP00000379054:p.Val214Ile	57.0	0.0		47.0	13.0	NM_153034	Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	hg19	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580886	0.28180	.	.	ENSG00000165388	ENST00000395702	T	0.24151	1.87	5.55	-0.402	0.12404	.	0.639568	0.15979	U	0.235386	T	0.15046	0.0363	L	0.40543	1.245	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.20874	-1.0262	10	0.24483	T	0.36	.	2.8536	0.05565	0.3046:0.1136:0.466:0.1158	.	214	Q96MN9	ZN488_HUMAN	I	214	ENSP00000379054:V214I	ENSP00000379054:V214I	V	+	1	0	ZNF488	47991178	0.063000	0.20901	0.000000	0.03702	0.693000	0.40251	1.285000	0.33261	0.015000	0.14971	-0.291000	0.09656	GTT	.	.		0.552	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034	
DNA2	1763	hgsc.bcm.edu	37	10	70192040	70192040	+	Missense_Mutation	SNP	C	C	G	rs201999986		TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr10:70192040C>G	ENST00000358410.3	-	12	1846	c.1796G>C	c.(1795-1797)cGt>cCt	p.R599P	DNA2_ENST00000399179.2_Missense_Mutation_p.R599P|DNA2_ENST00000399180.2_Missense_Mutation_p.R685P	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	599	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)	p.R599H(1)|p.R685H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CTGAGGTTCACGAAAGTCAAT	0.343																																					p.R599P		Atlas-SNP	.											.	DNA2	76	.	2	Substitution - Missense(2)	lung(2)	c.G1796C						.						130.0	125.0	126.0					10																	70192040		1830	4082	5912	SO:0001583	missense	1763	exon12			GGTTCACGAAAGT	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.1796G>C	chr10.hg19:g.70192040C>G	ENSP00000351185:p.Arg599Pro	209.0	0.0		171.0	23.0	NM_001080449	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	hg19		.	.	.	.	.	.	.	.	.	.	C	17.86	3.492094	0.64074	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;T;D	0.91996	-2.95;0.55;-2.92	5.9	1.58	0.23477	.	0.347519	0.32624	N	0.005850	D	0.93380	0.7889	M	0.69823	2.125	0.24915	N	0.992015	P;D	0.58970	0.946;0.984	P;P	0.57911	0.619;0.829	D	0.87323	0.2319	10	0.54805	T	0.06	.	10.2132	0.43154	0.0:0.5826:0.0:0.4174	.	599;599	F8VR31;P51530	.;DNA2L_HUMAN	P	599;685;599;599	ENSP00000382133:R685P;ENSP00000382132:R599P;ENSP00000351185:R599P	ENSP00000351185:R599P	R	-	2	0	DNA2	69862046	0.002000	0.14202	0.750000	0.31169	0.992000	0.81027	0.144000	0.16135	0.010000	0.14839	0.558000	0.71614	CGT	.	.		0.343	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2		
VAX1	11023	hgsc.bcm.edu	37	10	118896162	118896163	+	Missense_Mutation	DNP	CC	CC	TT	rs567659626		TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr10:118896162_118896163CC>TT	ENST00000369206.5	-	2	248_249	c.249_250GG>AA	c.(247-252)aaGGgg>aaAAgg	p.G84R	VAX1_ENST00000277905.2_Missense_Mutation_p.G84R	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	84					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CGGATGGACCCCTTGGCATCTG	0.644																																					p.G84R|p.K83K		Atlas-SNP	.											.	VAX1	50	.	0			c.G250A|c.G249A						.																																			SO:0001583	missense	11023	exon2			TGGACCCCTTGGC|GGACCCCTTGGCA	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.249_250delinsTT	chr10.hg19:g.118896162_118896163delinsTT	ENSP00000358207:p.Gly84Arg	41.0|42.0	0.0		50.0	15.0	NM_001112704	B1AVW5|Q6ZSX0	Missense_Mutation|Silent	SNP	ENST00000369206.5	hg19	CCDS44483.1																																																																																			.	.		0.644	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242	
CD81	975	hgsc.bcm.edu	37	11	2417938	2417938	+	Silent	SNP	G	G	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr11:2417938G>T	ENST00000263645.5	+	7	898	c.642G>T	c.(640-642)gtG>gtT	p.V214V	CD81_ENST00000381036.3_Silent_p.V252V|CD81_ENST00000492627.1_Silent_p.V143V|CD81_ENST00000526072.1_Silent_p.V143V|CD81_ENST00000481687.1_Silent_p.V220V	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	214					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGTCGCTGTGATCATGGTGA	0.662																																					p.V214V		Atlas-SNP	.											.	CD81	11	.	0			c.G642T						.						69.0	68.0	68.0					11																	2417938		2202	4299	6501	SO:0001819	synonymous_variant	975	exon7			CGCTGTGATCATG		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"""CD molecules"", ""Tetraspanins"""	1701	protein-coding gene	gene with protein product		186845	"""CD81 antigen (target of antiproliferative antibody 1)"""	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.642G>T	chr11.hg19:g.2417938G>T		47.0	0.0		38.0	4.0	NM_004356	P18582|Q5U0J6	Silent	SNP	ENST00000263645.5	hg19	CCDS7734.1	.	.	.	.	.	.	.	.	.	.	G	9.401	1.078002	0.20227	.	.	ENSG00000110651	ENST00000464784	.	.	.	3.39	1.29	0.21616	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0626	0.19846	0.0:0.5072:0.3267:0.1661	.	.	.	.	L	199	.	.	X	+	2	2	CD81	2374514	0.433000	0.25562	0.999000	0.59377	0.891000	0.51852	-0.655000	0.05348	0.780000	0.33566	0.462000	0.41574	TGA	.	.		0.662	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	NM_004356	
KCNE3	10008	hgsc.bcm.edu	37	11	74168404	74168404	+	Missense_Mutation	SNP	C	C	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr11:74168404C>G	ENST00000310128.4	-	3	624	c.205G>C	c.(205-207)Gct>Cct	p.A69P	RP11-702H23.4_ENST00000533008.1_RNA|RP11-702H23.6_ENST00000530510.1_RNA|KCNE3_ENST00000525550.1_Missense_Mutation_p.A69P	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	69					regulation of potassium ion transport (GO:0043266)	integral component of membrane (GO:0016021)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					ACAGTTACAGCAAATAGAAAC	0.522																																					p.A69P		Atlas-SNP	.											.	KCNE3	7	.	0			c.G205C						.						74.0	65.0	68.0					11																	74168404		2200	4293	6493	SO:0001583	missense	10008	exon3			TTACAGCAAATAG	AF076531	CCDS8232.1	11q13.4	2014-09-17				ENSG00000175538		"""Potassium channels"""	6243	protein-coding gene	gene with protein product		604433				10219239	Standard	NM_005472		Approved	MiRP2, HOKPP	uc001ovc.3	Q9Y6H6		ENST00000310128.4:c.205G>C	chr11.hg19:g.74168404C>G	ENSP00000310557:p.Ala69Pro	105.0	0.0		98.0	18.0	NM_005472		Missense_Mutation	SNP	ENST00000310128.4	hg19	CCDS8232.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669970	0.88348	.	.	ENSG00000175538	ENST00000310128;ENST00000525550;ENST00000532569	D;D;D	0.92446	-3.04;-3.04;-3.04	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	D	0.95245	0.8458	M	0.62723	1.935	0.53005	D	0.999963	D	0.89917	1.0	D	0.91635	0.999	D	0.95282	0.8387	10	0.72032	D	0.01	-17.7987	16.5607	0.84565	0.0:1.0:0.0:0.0	.	69	Q9Y6H6	KCNE3_HUMAN	P	69	ENSP00000310557:A69P;ENSP00000433633:A69P;ENSP00000431739:A69P	ENSP00000310557:A69P	A	-	1	0	KCNE3	73846052	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	4.879000	0.63100	2.771000	0.95319	0.561000	0.74099	GCT	.	.		0.522	KCNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385531.1	NM_005472	
TRIM49C	642612	hgsc.bcm.edu	37	11	89774525	89774525	+	Missense_Mutation	SNP	G	G	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr11:89774525G>T	ENST00000448984.1	+	8	1495	c.1166G>T	c.(1165-1167)tGc>tTc	p.C389F	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	389	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|lung(4)	8						GACATTCAATGCAGTCTCTTT	0.423																																					p.C389F		Atlas-SNP	.											.	TRIM49C	48	.	0			c.G1166T						.																																			SO:0001583	missense	642612	exon8			TTCAATGCAGTCT	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.1166G>T	chr11.hg19:g.89774525G>T	ENSP00000388299:p.Cys389Phe	122.0	0.0		98.0	33.0	NM_001195234	A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	hg19	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.070620	0.00379	.	.	ENSG00000204449	ENST00000448984	T	0.59364	0.27	1.02	-1.37	0.09056	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.28995	0.0720	N	0.10645	0.015	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.16188	-1.0411	8	.	.	.	.	4.0705	0.09880	0.498:0.0:0.502:0.0	.	389	P0CI26	T49L2_HUMAN	F	389	ENSP00000388299:C389F	.	C	+	2	0	TRIM49L2	89414173	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.327000	0.07955	-0.480000	0.06803	0.298000	0.19748	TGC	.	.		0.423	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234	
PGR	5241	hgsc.bcm.edu	37	11	100999292	100999292	+	Missense_Mutation	SNP	G	G	C			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr11:100999292G>C	ENST00000325455.5	-	1	1963	c.510C>G	c.(508-510)tgC>tgG	p.C170W	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.C170W	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	170	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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 binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CTCCAACCTTGCACCCGGACC	0.692																																					p.C170W	Pancreas(124;2271 2354 21954 22882)	Atlas-SNP	.											.	PGR	115	.	0			c.C510G						.						7.0	8.0	8.0					11																	100999292		2155	4253	6408	SO:0001583	missense	5241	exon1			AACCTTGCACCCG	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.510C>G	chr11.hg19:g.100999292G>C	ENSP00000325120:p.Cys170Trp	15.0	0.0		13.0	5.0	NM_000926	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	hg19	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235275	0.22626	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.06371	3.31;3.31	4.35	4.35	0.52113	.	2.200960	0.02042	N	0.049354	T	0.07369	0.0186	N	0.08118	0	0.29907	N	0.823906	B;B	0.25169	0.119;0.119	B;B	0.34452	0.183;0.183	T	0.31392	-0.9945	10	0.72032	D	0.01	.	12.3745	0.55273	0.0:0.0:1.0:0.0	.	170;170	Q8TDS3;P06401	.;PRGR_HUMAN	W	170	ENSP00000325120:C170W;ENSP00000263463:C170W	ENSP00000263463:C170W	C	-	3	2	PGR	100504502	0.911000	0.30947	0.726000	0.30738	0.282000	0.26991	2.091000	0.41691	1.964000	0.57103	0.462000	0.41574	TGC	.	.		0.692	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1		
CARD18	59082	hgsc.bcm.edu	37	11	105009742	105009742	+	Missense_Mutation	SNP	G	G	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr11:105009742G>T	ENST00000530950.1	-	2	70	c.71C>A	c.(70-72)gCc>gAc	p.A24D	CARD18_ENST00000532895.1_5'UTR|CARD18_ENST00000526823.1_5'UTR	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	24	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				inflammatory response (GO:0006954)|regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.A24>?(1)		central_nervous_system(1)|ovary(1)	2						ATCCAGCAAGGCATTTATTGT	0.398																																					p.A24D		Atlas-SNP	.											.,1	CARD18	18	.	1	Complex(1)	large_intestine(1)	c.C71A						.						146.0	132.0	136.0					11																	105009742		1892	4125	6017	SO:0001583	missense	59082	exon2			AGCAAGGCATTTA	AY358231	CCDS53705.1	11q22.3	2008-09-02				ENSG00000255501			28861	protein-coding gene	gene with protein product		605354				11051551	Standard	NM_021571		Approved	UNQ5804, ICEBERG, pseudo-ICE	uc021qpy.1	P57730		ENST00000530950.1:c.71C>A	chr11.hg19:g.105009742G>T	ENSP00000436691:p.Ala24Asp	118.0	1.0		126.0	59.0	NM_021571	A2RRF8	Missense_Mutation	SNP	ENST00000530950.1	hg19	CCDS53705.1	.	.	.	.	.	.	.	.	.	.	.	10.52	1.373714	0.24857	.	.	ENSG00000255501	ENST00000530950	T	0.19669	2.13	2.49	-4.25	0.03766	DEATH-like (2);Caspase Recruitment (3);	0.474595	0.21820	U	0.068635	T	0.19046	0.0457	.	.	.	0.09310	N	0.999999	P	0.35656	0.514	B	0.43082	0.407	T	0.17930	-1.0353	9	0.62326	D	0.03	.	7.8111	0.29232	0.1279:0.4337:0.4384:0.0	.	24	P57730	CAR18_HUMAN	D	24	ENSP00000436691:A24D	ENSP00000436691:A24D	A	-	2	0	CARD18	104514952	0.000000	0.05858	0.001000	0.08648	0.199000	0.23934	-2.733000	0.00803	-1.037000	0.03283	-0.267000	0.10333	GCC	.	.		0.398	CARD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388183.2	NM_021571	
DDX10	1662	hgsc.bcm.edu	37	11	108712068	108712068	+	Missense_Mutation	SNP	G	G	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr11:108712068G>T	ENST00000322536.3	+	15	2241	c.2112G>T	c.(2110-2112)caG>caT	p.Q704H	DDX10_ENST00000526794.1_Missense_Mutation_p.Q704H	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	704					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.Q704H(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CACAAATGCAGAAATCTGCCA	0.418			T	NUP98	AML*																																p.Q704H		Atlas-SNP	.		Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	DDX10,NS,carcinoma,0,1	DDX10	70	.	1	Substitution - Missense(1)	lung(1)	c.G2112T						.						80.0	76.0	77.0					11																	108712068		2201	4298	6499	SO:0001583	missense	1662	exon15			AATGCAGAAATCT	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2112G>T	chr11.hg19:g.108712068G>T	ENSP00000314348:p.Gln704His	217.0	0.0		230.0	85.0	NM_004398	B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	hg19	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006128	0.54361	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.45276	0.9;0.92	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000001	T	0.59702	0.2213	L	0.61218	1.895	0.48571	D	0.999675	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.936	T	0.61436	-0.7063	10	0.66056	D	0.02	-12.9617	11.5624	0.50785	0.0856:0.0:0.9144:0.0	.	704;704	Q13206;E9PIF2	DDX10_HUMAN;.	H	704;610;704	ENSP00000314348:Q704H;ENSP00000432032:Q704H	ENSP00000314348:Q704H	Q	+	3	2	DDX10	108217278	1.000000	0.71417	0.999000	0.59377	0.588000	0.36517	1.435000	0.34969	2.536000	0.85505	0.650000	0.86243	CAG	.	.		0.418	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398	
TMPRSS13	84000	hgsc.bcm.edu	37	11	117784524	117784524	+	Silent	SNP	T	T	C			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr11:117784524T>C	ENST00000430170.2	-	5	864	c.777A>G	c.(775-777)tcA>tcG	p.S259S	TMPRSS13_ENST00000528626.1_Silent_p.S224S|TMPRSS13_ENST00000526090.1_Silent_p.S259S|TMPRSS13_ENST00000524993.1_Silent_p.S259S|TMPRSS13_ENST00000445164.2_Silent_p.S259S	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	259	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AGGTCTTCTCTGAGTAGGAGT	0.537																																					p.S259S		Atlas-SNP	.											.	TMPRSS13	75	.	0			c.A777G						.						74.0	77.0	76.0					11																	117784524		1892	4110	6002	SO:0001819	synonymous_variant	84000	exon5			CTTCTCTGAGTAG	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.777A>G	chr11.hg19:g.117784524T>C		42.0	0.0		60.0	12.0	NM_001206790	B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000430170.2	hg19	CCDS58185.1																																																																																			.	.		0.537	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046	
ATN1	1822	hgsc.bcm.edu	37	12	7047886	7047886	+	Silent	SNP	C	C	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr12:7047886C>T	ENST00000356654.4	+	7	2997	c.2760C>T	c.(2758-2760)gtC>gtT	p.V920V	ATN1_ENST00000396684.2_Silent_p.V920V	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	920					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GTTACAATGTCCCGGCCCTGT	0.622																																					p.V920V		Atlas-SNP	.											.	ATN1	95	.	0			c.C2760T						.						64.0	73.0	70.0					12																	7047886		2203	4300	6503	SO:0001819	synonymous_variant	1822	exon7			CAATGTCCCGGCC	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2760C>T	chr12.hg19:g.7047886C>T		45.0	0.0		43.0	14.0	NM_001007026	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	hg19	CCDS31734.1																																																																																			.	.		0.622	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940	
CLEC9A	283420	hgsc.bcm.edu	37	12	10205339	10205339	+	Missense_Mutation	SNP	A	A	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr12:10205339A>T	ENST00000355819.1	+	4	666	c.53A>T	c.(52-54)gAc>gTc	p.D18V	CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	18					positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						CCAGCACCAGACACTTACCAG	0.413																																					p.D18V		Atlas-SNP	.											.	CLEC9A	41	.	0			c.A53T						.						115.0	107.0	110.0					12																	10205339		2203	4300	6503	SO:0001583	missense	283420	exon4			CACCAGACACTTA		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.53A>T	chr12.hg19:g.10205339A>T	ENSP00000348074:p.Asp18Val	83.0	0.0		88.0	23.0	NM_207345	B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	hg19	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	A	3.602	-0.081293	0.07141	.	.	ENSG00000197992	ENST00000355819	T	0.01422	4.91	4.2	1.87	0.25490	.	0.676729	0.12890	N	0.430656	T	0.00906	0.0030	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.48822	-0.9001	10	0.30854	T	0.27	.	5.7809	0.18306	0.7871:0.0:0.2129:0.0	.	18	Q6UXN8	CLC9A_HUMAN	V	18	ENSP00000348074:D18V	ENSP00000348074:D18V	D	+	2	0	CLEC9A	10096606	0.000000	0.05858	0.004000	0.12327	0.052000	0.14988	0.830000	0.27462	0.418000	0.25898	0.533000	0.62120	GAC	.	.		0.413	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345	
KLRC3	3823	hgsc.bcm.edu	37	12	10587104	10587104	+	Silent	SNP	C	C	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr12:10587104C>T	ENST00000539033.1	-	3	326	c.312G>A	c.(310-312)ccG>ccA	p.P104P	KLRC2_ENST00000536833.2_Silent_p.P45P|KLRC2_ENST00000381902.2_Silent_p.P104P|KLRC2_ENST00000381901.1_Intron																							TTCTTGTATTCGGGGAAAAAT	0.284																																					p.P104P		Atlas-SNP	.											.	KLRC2	29	.	0			c.G312A						.						79.0	90.0	86.0					12																	10587104		2203	4294	6497	SO:0001819	synonymous_variant	3822	exon3			TGTATTCGGGGAA																												ENST00000539033.1:c.312G>A	chr12.hg19:g.10587104C>T		562.0	0.0		590.0	104.0	NM_002260		Silent	SNP	ENST00000539033.1	hg19																																																																																				.	.		0.284	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1		
TMEM106C	79022	hgsc.bcm.edu	37	12	48359775	48359775	+	Missense_Mutation	SNP	A	A	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr12:48359775A>G	ENST00000429772.2	+	4	519	c.406A>G	c.(406-408)Atc>Gtc	p.I136V	TMEM106C_ENST00000552561.1_Missense_Mutation_p.I136V|TMEM106C_ENST00000256686.6_Missense_Mutation_p.I136V|TMEM106C_ENST00000449758.2_Missense_Mutation_p.I136V|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000550552.1_Missense_Mutation_p.I136V|TMEM106C_ENST00000552546.1_Missense_Mutation_p.I65V	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	136						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		AATTCTCACCATCATGGTAAG	0.483																																					p.I136V		Atlas-SNP	.											.	TMEM106C	24	.	0			c.A406G						.						172.0	155.0	161.0					12																	48359775		2203	4300	6503	SO:0001583	missense	79022	exon4			CTCACCATCATGG	BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.406A>G	chr12.hg19:g.48359775A>G	ENSP00000400471:p.Ile136Val	127.0	0.0		145.0	40.0	NM_001143843	B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	ENST00000429772.2	hg19	CCDS8758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.506|6.506	0.461633|0.461633	0.12342|0.12342	.|.	.|.	ENSG00000134291|ENSG00000134291	ENST00000547682|ENST00000256686;ENST00000552561;ENST00000552546;ENST00000550552;ENST00000429772;ENST00000449758;ENST00000548640	.|T;T;T;T;T;T;T	.|0.22945	.|1.93;1.93;1.93;1.93;1.93;1.93;1.93	4.68|4.68	2.3|2.3	0.28687|0.28687	.|.	.|0.105308	.|0.64402	.|N	.|0.000006	T|T	0.14098|0.14098	0.0341|0.0341	N|N	0.21545|0.21545	0.675|0.675	0.32497|0.32497	N|N	0.539331|0.539331	.|B;B	.|0.10296	.|0.003;0.002	.|B;B	.|0.14578	.|0.011;0.006	T|T	0.14144|0.14144	-1.0483|-1.0483	5|10	.|0.25106	.|T	.|0.35	-0.167|-0.167	6.5115|6.5115	0.22224|0.22224	0.7563:0.1575:0.0862:0.0|0.7563:0.1575:0.0862:0.0	.|.	.|136;136	.|Q9BVX2;Q9BVX2-2	.|T106C_HUMAN;.	R|V	22|136;136;65;136;136;136;65	.|ENSP00000256686:I136V;ENSP00000446657:I136V;ENSP00000448268:I65V;ENSP00000449737:I136V;ENSP00000400471:I136V;ENSP00000402705:I136V;ENSP00000447254:I65V	.|ENSP00000256686:I136V	H|I	+|+	2|1	0|0	TMEM106C|TMEM106C	46646042|46646042	1.000000|1.000000	0.71417|0.71417	0.882000|0.882000	0.34594|0.34594	0.037000|0.037000	0.13140|0.13140	3.535000|3.535000	0.53575|0.53575	0.518000|0.518000	0.28383|0.28383	0.533000|0.533000	0.62120|0.62120	CAT|ATC	.	.		0.483	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1	NM_024056	
TROAP	10024	hgsc.bcm.edu	37	12	49724529	49724529	+	Missense_Mutation	SNP	G	G	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr12:49724529G>A	ENST00000257909.3	+	13	1977	c.1901G>A	c.(1900-1902)gGg>gAg	p.G634E	TROAP_ENST00000547923.1_Missense_Mutation_p.G313E|TROAP_ENST00000551245.1_Missense_Mutation_p.G634E	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	634	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GGACCCCCAGGGCCCTGCCCT	0.647																																					p.G634E		Atlas-SNP	.											.	TROAP	80	.	0			c.G1901A						.						49.0	52.0	51.0					12																	49724529		2203	4300	6503	SO:0001583	missense	10024	exon13			CCCCAGGGCCCTG	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1901G>A	chr12.hg19:g.49724529G>A	ENSP00000257909:p.Gly634Glu	36.0	0.0		39.0	15.0	NM_005480	F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	hg19	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	2.209	-0.381034	0.05000	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	4.28	-0.898	0.10550	.	0.898969	0.09538	N	0.788605	T	0.11665	0.0284	N	0.04090	-0.28	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31223	-0.9951	9	0.02654	T	1	0.2159	3.3988	0.07316	0.5478:0.0:0.2864:0.1659	.	634;313;634	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	E	634;634;313	.	ENSP00000257909:G634E	G	+	2	0	TROAP	48010796	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.390000	0.20768	-0.144000	0.11314	-1.267000	0.01435	GGG	.	.		0.647	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480	
DCD	117159	hgsc.bcm.edu	37	12	55040929	55040929	+	Missense_Mutation	SNP	C	C	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr12:55040929C>A	ENST00000293371.6	-	2	262	c.73G>T	c.(73-75)Gcc>Tcc	p.A25S	DCD_ENST00000456047.2_Missense_Mutation_p.A25S	NM_053283.2	NP_444513.1	P81605	DCD_HUMAN	dermcidin	25					defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				GGGGCAGAGGCGGCCTCTGGA	0.572																																					p.A25S		Atlas-SNP	.											.	DCD	20	.	0			c.G73T						.						61.0	40.0	47.0					12																	55040929		2196	4286	6482	SO:0001583	missense	117159	exon2			CAGAGGCGGCCTC	AF144011	CCDS8884.1, CCDS73478.1	12q13.1	2008-08-04				ENSG00000161634			14669	protein-coding gene	gene with protein product	"""proteolysis inducing factor"", ""preproteolysin"", ""diffusible survival/evasion peptide"", ""survival promoting peptide"""	606634				11694882	Standard	XM_005268627		Approved	AIDD, PIF, DSEP, HCAP, DCD-1	uc001sgj.3	P81605	OTTHUMG00000169937	ENST00000293371.6:c.73G>T	chr12.hg19:g.55040929C>A	ENSP00000293371:p.Ala25Ser	48.0	0.0		57.0	18.0	NM_053283	A5JHP2|A5JHP3|P58461|Q53YJ2	Missense_Mutation	SNP	ENST00000293371.6	hg19	CCDS8884.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311679	0.23821	.	.	ENSG00000161634	ENST00000293371;ENST00000456047	.	.	.	2.64	1.73	0.24493	.	.	.	.	.	T	0.34048	0.0884	N	0.08118	0	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.10800	-1.0614	8	0.87932	D	0	.	5.0764	0.14634	0.0:0.8321:0.0:0.1679	.	25;25	A5JHP3;P81605	.;DCD_HUMAN	S	25	.	ENSP00000293371:A25S	A	-	1	0	DCD	53327196	0.002000	0.14202	0.083000	0.20561	0.009000	0.06853	0.015000	0.13355	0.678000	0.31325	0.563000	0.77884	GCC	.	.		0.572	DCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406617.1	NM_053283	
NAV3	89795	hgsc.bcm.edu	37	12	78400495	78400495	+	Missense_Mutation	SNP	G	G	A	rs34682552		TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr12:78400495G>A	ENST00000397909.2	+	8	1350	c.1177G>A	c.(1177-1179)Gcc>Acc	p.A393T	NAV3_ENST00000536525.2_Missense_Mutation_p.A393T|NAV3_ENST00000228327.6_Missense_Mutation_p.A393T|NAV3_ENST00000266692.7_Missense_Mutation_p.A393T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	393						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCTAGTCAATGCCCGGACTGC	0.507										HNSCC(70;0.22)																											p.A393T		Atlas-SNP	.											.	NAV3	506	.	0			c.G1177A						.						79.0	83.0	81.0					12																	78400495		1991	4150	6141	SO:0001583	missense	89795	exon8			GTCAATGCCCGGA	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1177G>A	chr12.hg19:g.78400495G>A	ENSP00000381007:p.Ala393Thr	107.0	0.0		121.0	28.0	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.23|19.23	3.787642|3.787642	0.70337|0.70337	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000550503	T;T;T;T;T|.	0.60548|.	0.18;1.67;1.67;1.67;1.6|.	5.74|5.74	3.92|3.92	0.45320|0.45320	.|.	0.000000|.	0.39834|.	U|.	0.001245|.	T|T	0.51329|0.51329	0.1668|0.1668	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	P;B|.	0.44734|.	0.842;0.041|.	B;B|.	0.31946|.	0.138;0.011|.	T|T	0.40346|0.40346	-0.9568|-0.9568	10|5	0.29301|.	T|.	0.29|.	-10.5837|-10.5837	8.6761|8.6761	0.34181|0.34181	0.0685:0.0:0.6605:0.271|0.0685:0.0:0.6605:0.271	.|.	393;393|.	Q8IVL0;Q8IVL0-2|.	NAV3_HUMAN;.|.	T|Y	393|216	ENSP00000446628:A393T;ENSP00000446132:A393T;ENSP00000381007:A393T;ENSP00000228327:A393T;ENSP00000266692:A393T|.	ENSP00000228327:A393T|.	A|C	+|+	1|2	0|0	NAV3|NAV3	76924626|76924626	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	1.547000|1.547000	0.36190|0.36190	0.780000|0.780000	0.33566|0.33566	0.655000|0.655000	0.94253|0.94253	GCC|TGC	.	.		0.507	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
DAOA	267012	hgsc.bcm.edu	37	13	106142291	106142291	+	Missense_Mutation	SNP	C	C	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr13:106142291C>A	ENST00000375936.3	+	4	369	c.323C>A	c.(322-324)gCa>gAa	p.A108E	DAOA_ENST00000329625.5_Missense_Mutation_p.A37E|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	108					negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					gtcttcatggcaagaaactat	0.493																																					p.A108E		Atlas-SNP	.											.	DAOA	26	.	0			c.C323A						.						65.0	70.0	69.0					13																	106142291		2120	4249	6369	SO:0001583	missense	267012	exon4			TCATGGCAAGAAA	AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"""G72 transcript"""	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.323C>A	chr13.hg19:g.106142291C>A	ENSP00000365103:p.Ala108Glu	64.0	0.0		91.0	26.0	NM_172370	A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Missense_Mutation	SNP	ENST00000375936.3	hg19	CCDS41905.1	.	.	.	.	.	.	.	.	.	.	C	8.871	0.949352	0.18356	.	.	ENSG00000182346	ENST00000375936;ENST00000329625	T	0.27402	1.67	2.44	-1.89	0.07689	.	.	.	.	.	T	0.13884	0.0336	N	0.08118	0	0.09310	N	1	P;P	0.52061	0.95;0.95	P;P	0.47573	0.55;0.55	T	0.07443	-1.0772	9	0.02654	T	1	.	6.7879	0.23683	0.0:0.3562:0.0:0.6438	.	80;108	A2T115;P59103	.;DAOA_HUMAN	E	108;37	ENSP00000365103:A108E	ENSP00000329951:A37E	A	+	2	0	DAOA	104940292	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.483000	0.06536	-0.592000	0.05851	-0.137000	0.14449	GCA	.	.		0.493	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099040.2	NM_172370	
PARP2	10038	hgsc.bcm.edu	37	14	20822996	20822996	+	Silent	SNP	A	A	C			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr14:20822996A>C	ENST00000250416.5	+	9	858	c.831A>C	c.(829-831)gcA>gcC	p.A277A	PARP2_ENST00000429687.3_Silent_p.A264A|PARP2_ENST00000527915.1_Silent_p.A277A	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	277	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		AAATCAAGGCAGGTTACCAGT	0.498								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																													p.A277A		Atlas-SNP	.											.	PARP2	92	.	0			c.A831C						.						138.0	138.0	138.0					14																	20822996		1973	4171	6144	SO:0001819	synonymous_variant	10038	exon9			CAAGGCAGGTTAC	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.831A>C	chr14.hg19:g.20822996A>C		100.0	0.0		91.0	30.0	NM_005484	Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Silent	SNP	ENST00000250416.5	hg19	CCDS41910.1																																																																																			.	.		0.498	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2		
LRFN5	145581	hgsc.bcm.edu	37	14	42356953	42356953	+	Missense_Mutation	SNP	T	T	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr14:42356953T>G	ENST00000298119.4	+	3	2314	c.1125T>G	c.(1123-1125)atT>atG	p.I375M	LRFN5_ENST00000554120.1_Missense_Mutation_p.I375M|LRFN5_ENST00000554171.1_Missense_Mutation_p.I375M	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	375						integral component of membrane (GO:0016021)				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)		TTCATATAATTAAGCTCCCTC	0.393										HNSCC(30;0.082)																											p.I375M		Atlas-SNP	.											.	LRFN5	269	.	0			c.T1125G						.						77.0	79.0	78.0					14																	42356953		2203	4300	6503	SO:0001583	missense	145581	exon3			TATAATTAAGCTC	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.1125T>G	chr14.hg19:g.42356953T>G	ENSP00000298119:p.Ile375Met	88.0	0.0		94.0	34.0	NM_152447	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	hg19	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.085524	0.36758	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.53423	0.77;0.62;0.62	5.4	4.1	0.47936	.	0.000000	0.56097	D	0.000022	T	0.48095	0.1481	L	0.49778	1.585	0.43683	D	0.996125	P;P	0.49783	0.886;0.928	P;P	0.53401	0.725;0.634	T	0.48080	-0.9066	10	0.46703	T	0.11	.	4.7262	0.12941	0.0:0.2312:0.0:0.7688	.	375;375	G3V364;Q96NI6	.;LRFN5_HUMAN	M	375	ENSP00000298119:I375M;ENSP00000451897:I375M;ENSP00000451067:I375M	ENSP00000298119:I375M	I	+	3	3	LRFN5	41426703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.413000	0.34725	2.165000	0.68154	0.460000	0.39030	ATT	.	.		0.393	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
LTBP2	4053	hgsc.bcm.edu	37	14	74989512	74989512	+	Silent	SNP	G	G	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr14:74989512G>T	ENST00000261978.4	-	16	3026	c.2640C>A	c.(2638-2640)ccC>ccA	p.P880P	LTBP2_ENST00000556690.1_Silent_p.P880P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	880	Cys-rich.|EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGCCTGGCTGGGGTGCAGCT	0.622																																					p.P880P		Atlas-SNP	.											.	LTBP2	158	.	0			c.C2640A						.						46.0	33.0	38.0					14																	74989512		2203	4300	6503	SO:0001819	synonymous_variant	4053	exon16			CTGGCTGGGGTGC		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2640C>A	chr14.hg19:g.74989512G>T		26.0	0.0		42.0	17.0	NM_000428	Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	hg19	CCDS9831.1																																																																																			.	.		0.622	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	
TDRD9	122402	hgsc.bcm.edu	37	14	104506642	104506642	+	Missense_Mutation	SNP	G	G	A	rs182776644	byFrequency	TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr14:104506642G>A	ENST00000409874.4	+	33	3874	c.3826G>A	c.(3826-3828)Gtt>Att	p.V1276I	TDRD9_ENST00000339063.5_Intron	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1276				V -> F (in Ref. 3; BAC05144). {ECO:0000305}.	cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGCGTTTGACGTTCAATTCAG	0.532																																					p.V1276I		Atlas-SNP	.											.	TDRD9	175	.	0			c.G3826A						.						163.0	133.0	142.0					14																	104506642		692	1591	2283	SO:0001583	missense	122402	exon33			TTTGACGTTCAAT	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.3826G>A	chr14.hg19:g.104506642G>A	ENSP00000387303:p.Val1276Ile	93.0	0.0		90.0	25.0	NM_153046	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	hg19	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601080	0.46423	.	.	ENSG00000156414	ENST00000409874	T	0.03831	3.79	5.24	5.24	0.73138	.	.	.	.	.	T	0.07728	0.0194	L	0.56769	1.78	0.80722	D	1	D	0.55172	0.97	B	0.38712	0.28	T	0.09796	-1.0658	9	0.66056	D	0.02	.	17.598	0.88017	0.0:0.0:1.0:0.0	.	1276	Q8NDG6	TDRD9_HUMAN	I	1276	ENSP00000387303:V1276I	ENSP00000387303:V1276I	V	+	1	0	TDRD9	103576395	1.000000	0.71417	0.022000	0.16811	0.003000	0.03518	5.942000	0.70203	2.450000	0.82876	0.650000	0.86243	GTT	.	G|1.000;T|0.000		0.532	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046	
PLCB2	5330	hgsc.bcm.edu	37	15	40585896	40585896	+	Silent	SNP	G	G	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr15:40585896G>A	ENST00000260402.3	-	20	2340	c.2091C>T	c.(2089-2091)cgC>cgT	p.R697R	PLCB2_ENST00000557821.1_Silent_p.R693R|PLCB2_ENST00000456256.2_Silent_p.R697R	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	697	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGCGCACGCTGCGTTCTGACA	0.582																																					p.R697R		Atlas-SNP	.											.	PLCB2	177	.	0			c.C2091T						.						75.0	79.0	78.0					15																	40585896		2008	4204	6212	SO:0001819	synonymous_variant	5330	exon20			CACGCTGCGTTCT		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2091C>T	chr15.hg19:g.40585896G>A		91.0	0.0		98.0	23.0	NM_004573	A8K6J2|B9EGH5	Silent	SNP	ENST00000260402.3	hg19	CCDS42020.1																																																																																			.	.		0.582	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		
PLA2G4F	255189	hgsc.bcm.edu	37	15	42436338	42436338	+	Silent	SNP	T	T	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr15:42436338T>A	ENST00000382396.4	-	18	2066	c.1980A>T	c.(1978-1980)acA>acT	p.T660T	PLA2G4F_ENST00000397272.3_Silent_p.T662T			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	660	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|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)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CGTCCGGGTGTGTGTCTGCAA	0.567																																					p.T660T		Atlas-SNP	.											.	PLA2G4F	75	.	0			c.A1980T						.						83.0	69.0	74.0					15																	42436338		2203	4299	6502	SO:0001819	synonymous_variant	255189	exon18			CGGGTGTGTGTCT		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1980A>T	chr15.hg19:g.42436338T>A		26.0	0.0		34.0	10.0	NM_213600	Q6ZMC8	Silent	SNP	ENST00000382396.4	hg19	CCDS32204.1																																																																																			.	.		0.567	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600	
CSPG4	1464	hgsc.bcm.edu	37	15	75969717	75969717	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr15:75969717C>T	ENST00000308508.5	-	10	5235	c.5143G>A	c.(5143-5145)Gtc>Atc	p.V1715I	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1715	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCCTCGGGGACCCAGAGACCT	0.642																																					p.V1715I		Atlas-SNP	.											.	CSPG4	175	.	0			c.G5143A						.						9.0	8.0	8.0					15																	75969717		2142	4222	6364	SO:0001583	missense	1464	exon10			CGGGGACCCAGAG	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5143G>A	chr15.hg19:g.75969717C>T	ENSP00000312506:p.Val1715Ile	41.0	0.0		38.0	18.0	NM_001897	D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	hg19	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993270	0.54041	.	.	ENSG00000173546	ENST00000308508	T	0.27720	1.65	5.39	5.39	0.77823	.	0.092925	0.45126	D	0.000399	T	0.28300	0.0699	M	0.64567	1.98	0.44188	D	0.997009	P	0.38020	0.615	B	0.29267	0.1	T	0.08046	-1.0741	10	0.42905	T	0.14	.	12.6639	0.56830	0.0:0.8209:0.1791:0.0	.	1715	Q6UVK1	CSPG4_HUMAN	I	1715	ENSP00000312506:V1715I	ENSP00000312506:V1715I	V	-	1	0	CSPG4	73756772	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.823000	0.39062	2.517000	0.84864	0.561000	0.74099	GTC	.	.		0.642	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897	
RASGRF1	5923	hgsc.bcm.edu	37	15	79298691	79298691	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr15:79298691C>T	ENST00000419573.3	-	15	2225	c.1951G>A	c.(1951-1953)Gcc>Acc	p.A651T	RASGRF1_ENST00000394745.3_5'Flank|RASGRF1_ENST00000558480.2_Missense_Mutation_p.A638T|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	651	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCCACACTGGCGTAGCGGATC	0.567																																					p.A651T		Atlas-SNP	.											RASGRF1,NS,carcinoma,+2,1	RASGRF1	168	.	0			c.G1951A						.						107.0	90.0	96.0					15																	79298691		2196	4293	6489	SO:0001583	missense	5923	exon15			CACTGGCGTAGCG	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1951G>A	chr15.hg19:g.79298691C>T	ENSP00000405963:p.Ala651Thr	57.0	0.0		74.0	20.0	NM_002891	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	hg19	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500016	0.85176	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.56611	0.45	4.63	4.63	0.57726	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.73305	0.3570	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;0.997;0.999;0.998	T	0.77861	-0.2430	10	0.87932	D	0	.	15.0277	0.71682	0.0:1.0:0.0:0.0	.	47;651;638;651;638	B7Z6Z6;A8K270;Q8IUU5;Q13972;F8VPA5	.;.;.;RGRF1_HUMAN;.	T	651;638	ENSP00000405963:A651T	ENSP00000378224:A638T	A	-	1	0	RASGRF1	77085746	1.000000	0.71417	0.991000	0.47740	0.898000	0.52572	7.429000	0.80309	2.413000	0.81919	0.591000	0.81541	GCC	.	.		0.567	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
TPPP3	51673	hgsc.bcm.edu	37	16	67424387	67424387	+	Missense_Mutation	SNP	C	C	T	rs146906089		TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr16:67424387C>T	ENST00000564104.1	-	2	1178	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	TPPP3_ENST00000393957.2_Missense_Mutation_p.V113I|TPPP3_ENST00000562206.1_Missense_Mutation_p.V113I|RNU1-123P_ENST00000458950.1_RNA|TPPP3_ENST00000290942.5_Missense_Mutation_p.V113I			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	113					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		CTTACAGTGACGCCCACATTG	0.627																																					p.V113I		Atlas-SNP	.											.	TPPP3	13	.	0			c.G337A						.		ILE/VAL,ILE/VAL	3,4393	6.2+/-15.9	0,3,2195	82.0	86.0	85.0		337,337	3.7	0.8	16	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TPPP3	NM_015964.2,NM_016140.2	29,29	0,4,6494	TT,TC,CC		0.0116,0.0682,0.0308	benign,benign	113/177,113/177	67424387	4,12992	2198	4300	6498	SO:0001583	missense	51673	exon4			CAGTGACGCCCAC	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.337G>A	chr16.hg19:g.67424387C>T	ENSP00000462435:p.Val113Ile	55.0	0.0		65.0	16.0	NM_016140	Q49AH9|Q9Y326|Q9Y6H0	Missense_Mutation	SNP	ENST00000564104.1	hg19	CCDS10835.1	.	.	.	.	.	.	.	.	.	.	c	12.80	2.046815	0.36085	6.82E-4	1.16E-4	ENSG00000159713	ENST00000393957;ENST00000290942	T;T	0.42900	0.96;0.96	3.74	3.74	0.42951	.	0.068946	0.56097	D	0.000021	T	0.33177	0.0854	L	0.48260	1.515	0.47276	D	0.999379	B	0.06786	0.001	B	0.11329	0.006	T	0.16012	-1.0417	10	0.36615	T	0.2	-11.7503	8.3276	0.32167	0.0:0.8891:0.0:0.1109	.	113	Q9BW30	TPPP3_HUMAN	I	113	ENSP00000377529:V113I;ENSP00000290942:V113I	ENSP00000290942:V113I	V	-	1	0	TPPP3	65981888	1.000000	0.71417	0.794000	0.32065	0.563000	0.35712	4.597000	0.61062	1.910000	0.55303	0.457000	0.33378	GTC	.	C|1.000;T|0.000		0.627	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964	
CDRT1	374286	hgsc.bcm.edu	37	17	15510886	15510886	+	Splice_Site	SNP	A	A	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr17:15510886A>T	ENST00000395906.3	-	6	1232		c.e6+1		RP11-385D13.1_ENST00000455584.2_Splice_Site	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1											endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CCCAGTACCTACGTGTCAGAG	0.498																																					.		Atlas-SNP	.											.	CDRT1	83	.	0			c.1232+2T>A						.						67.0	64.0	65.0					17																	15510886		2203	4300	6503	SO:0001630	splice_region_variant	374286	exon7			GTACCTACGTGTC	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1232+1T>A	chr17.hg19:g.15510886A>T		123.0	0.0		139.0	57.0	NM_006382	O43848|O95611	Splice_Site	SNP	ENST00000395906.3	hg19	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	A	9.805	1.181633	0.21787	.	.	ENSG00000251537	ENST00000455584;ENST00000261644;ENST00000395906	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3649	0.49666	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RP11-385D13.1	15451611	1.000000	0.71417	0.908000	0.35775	0.014000	0.08584	5.923000	0.70045	2.015000	0.59207	0.459000	0.35465	.	.	.		0.498	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382	Intron
MRC2	9902	hgsc.bcm.edu	37	17	60766320	60766320	+	Splice_Site	SNP	G	G	T	rs144406119	byFrequency	TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr17:60766320G>T	ENST00000303375.5	+	23	3735	c.3333G>T	c.(3331-3333)acG>acT	p.T1111T	MRC2_ENST00000580916.1_3'UTR|MRC2_ENST00000446119.2_Splice_Site_p.R57L	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1111					collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGAAGGGCACGGGTATGTGTC	0.642																																					p.T1111T		Atlas-SNP	.											.	MRC2	126	.	0			c.G3333T						.						43.0	36.0	38.0					17																	60766320		2203	4300	6503	SO:0001630	splice_region_variant	9902	exon23			GGGCACGGGTATG	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3334+1G>T	chr17.hg19:g.60766320G>T		80.0	0.0		67.0	25.0	NM_006039	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	hg19	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800347	0.70567	.	.	ENSG00000011028	ENST00000446119	T	0.03035	4.07	4.73	-9.46	0.00597	.	.	.	.	.	T	0.01800	0.0057	.	.	.	0.20307	N	0.999914	B	0.02656	0.0	B	0.01281	0.0	T	0.39396	-0.9616	8	0.29301	T	0.29	-11.2449	2.3556	0.04294	0.2657:0.1763:0.3749:0.1832	.	57	E7EME3	.	L	57	ENSP00000400445:R57L	ENSP00000400445:R57L	R	+	2	0	MRC2	58120052	0.864000	0.29904	0.200000	0.23457	0.553000	0.35397	0.005000	0.13129	-3.470000	0.00157	-1.069000	0.02264	CGG	.	G|0.993;A|0.007		0.642	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1		Silent
TK1	7083	hgsc.bcm.edu	37	17	76183452	76183452	+	5'Flank	SNP	A	A	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr17:76183452A>G	ENST00000301634.7	-	0	0				TK1_ENST00000588734.1_5'Flank|AFMID_ENST00000586731.1_5'Flank|TK1_ENST00000590430.1_5'Flank|AFMID_ENST00000591952.1_Start_Codon_SNP_p.M1V|AFMID_ENST00000589256.1_Start_Codon_SNP_p.M1V|AFMID_ENST00000327898.5_Start_Codon_SNP_p.M1V|TK1_ENST00000590862.1_5'Flank|AFMID_ENST00000409257.5_Start_Codon_SNP_p.M1V|TK1_ENST00000405273.1_5'Flank|AFMID_ENST00000588800.1_Start_Codon_SNP_p.M1V	NM_003258.4	NP_003249.3	P04183	KITH_HUMAN	thymidine kinase 1, soluble						deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|digestive tract development (GO:0048565)|DNA replication (GO:0006260)|fetal process involved in parturition (GO:0060138)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to copper ion (GO:0046688)|response to cortisol (GO:0051414)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|skeletal muscle cell proliferation (GO:0014856)|small molecule metabolic process (GO:0044281)|thymidine metabolic process (GO:0046104)	cytosol (GO:0005829)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|nucleoside kinase activity (GO:0019206)|thymidine kinase activity (GO:0004797)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		Trifluridine(DB00432)|Zidovudine(DB00495)	TGTAGACGCCATGATGGATGT	0.612																																					p.M1V		Atlas-SNP	.											.	AFMID	38	.	0			c.A1G						.						127.0	115.0	119.0					17																	76183452		2203	4300	6503	SO:0001631	upstream_gene_variant	125061	exon1			GACGCCATGATGG		CCDS11754.1	17q23.2-q25.3	2012-10-02			ENSG00000167900	ENSG00000167900	2.7.1.21		11830	protein-coding gene	gene with protein product		188300					Standard	NM_003258		Approved		uc002juw.2	P04183	OTTHUMG00000150674		chr17.hg19:g.76183452A>G	Exception_encountered	48.0	0.0		43.0	12.0	NM_001145526	B2RC58|Q969V0|Q9UMG9	Missense_Mutation	SNP	ENST00000301634.7	hg19	CCDS11754.1	.	.	.	.	.	.	.	.	.	.	A	0.033	-1.323974	0.01309	.	.	ENSG00000183077	ENST00000409257;ENST00000409431;ENST00000409722;ENST00000392388;ENST00000327898	.	.	.	2.98	-1.46	0.08800	.	.	.	.	.	T	0.26810	0.0656	.	.	.	0.18873	N	0.999987	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.27905	-1.0060	7	0.87932	D	0	.	3.5092	0.07701	0.3903:0.221:0.3888:0.0	.	1;1;1;1	A5PLM3;B8ZZB1;Q63HM1;Q63HM1-2	.;.;AFMID_HUMAN;.	V	1	.	ENSP00000328938:M1V	M	+	1	0	AFMID	73695047	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.803000	0.04540	-0.226000	0.09899	-0.971000	0.02607	ATG	.	.		0.612	TK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319577.1	NM_003258	
DNAH17	8632	hgsc.bcm.edu	37	17	76565546	76565546	+	Silent	SNP	G	G	A	rs563501310		TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr17:76565546G>A	ENST00000585328.1	-	8	1232	c.1108C>T	c.(1108-1110)Ctg>Ttg	p.L370L	DNAH17_ENST00000389840.5_Silent_p.L370L	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	370	Stem. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATGCCACTCAGGACTTCCTCG	0.522																																					p.L370L		Atlas-SNP	.											.	DNAH17	347	.	0			c.C1108T						.						82.0	63.0	69.0					17																	76565546		2203	4299	6502	SO:0001819	synonymous_variant	8632	exon8			CACTCAGGACTTC	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1108C>T	chr17.hg19:g.76565546G>A		84.0	0.0		77.0	27.0	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	hg19																																																																																				.	.		0.522	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
ME2	4200	hgsc.bcm.edu	37	18	48450496	48450496	+	Missense_Mutation	SNP	A	A	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr18:48450496A>T	ENST00000321341.5	+	11	1357	c.1085A>T	c.(1084-1086)cAg>cTg	p.Q362L	ME2_ENST00000382927.3_Missense_Mutation_p.Q362L	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	362					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		GATAGTTATCAGGAACCATTT	0.313																																					p.Q362L		Atlas-SNP	.											.	ME2	49	.	0			c.A1085T						.						107.0	107.0	107.0					18																	48450496		2203	4300	6503	SO:0001583	missense	4200	exon11			GTTATCAGGAACC	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1085A>T	chr18.hg19:g.48450496A>T	ENSP00000321070:p.Gln362Leu	164.0	0.0		197.0	27.0	NM_001168335	B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	hg19	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.824846	0.32237	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.32753	1.44;1.44	5.56	5.56	0.83823	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	L	0.60957	1.885	0.54753	D	0.999987	B;P	0.34837	0.048;0.472	B;B	0.40285	0.016;0.325	T	0.28996	-1.0026	10	0.87932	D	0	-13.9313	13.5384	0.61659	1.0:0.0:0.0:0.0	.	362;362	Q9BWL6;P23368	.;MAOM_HUMAN	L	362	ENSP00000321070:Q362L;ENSP00000372384:Q362L	ENSP00000321070:Q362L	Q	+	2	0	ME2	46704494	1.000000	0.71417	1.000000	0.80357	0.118000	0.20060	6.601000	0.74136	2.244000	0.73946	0.528000	0.53228	CAG	.	.		0.313	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396	
CNDP2	55748	hgsc.bcm.edu	37	18	72183571	72183572	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr18:72183571_72183572GG>TT	ENST00000324262.4	+	9	1328_1329	c.1012_1013GG>TT	c.(1012-1014)GGc>TTc	p.G338F	CNDP2_ENST00000324301.8_Missense_Mutation_p.G254F|CNDP2_ENST00000579847.1_Missense_Mutation_p.G338F	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	338					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.G338S(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GAAGGTGGTTGGCAAGTTCTCC	0.624																																					p.G338C|p.G338V		Atlas-SNP	.											CNDP2,caecum,carcinoma,-1,1|CNDP2,caecum,carcinoma,0,1	CNDP2	55	.	1	Substitution - Missense(1)	ovary(1)	c.G1012T|c.G1013T						.																																			SO:0001583	missense	55748	exon9			GTGGTTGGCAAGT|TGGTTGGCAAGTT	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	Exception_encountered	chr18.hg19:g.72183571_72183572delinsTT	ENSP00000325548:p.Gly338Phe	57.0|56.0	0.0		65.0|63.0	24.0|22.0	NM_018235	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	hg19	CCDS12006.1																																																																																			.	.		0.624	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235	
FEM1A	55527	hgsc.bcm.edu	37	19	4792915	4792915	+	Missense_Mutation	SNP	A	A	C			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr19:4792915A>C	ENST00000269856.3	+	1	1188	c.1049A>C	c.(1048-1050)tAt>tCt	p.Y350S	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA|AC005523.2_ENST00000596170.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	350					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCCTATGACTATTCCAGGGAG	0.652																																					p.Y350S		Atlas-SNP	.											.	FEM1A	41	.	0			c.A1049C						.						37.0	42.0	40.0					19																	4792915		2203	4294	6497	SO:0001583	missense	55527	exon1			ATGACTATTCCAG	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1049A>C	chr19.hg19:g.4792915A>C	ENSP00000269856:p.Tyr350Ser	26.0	0.0		44.0	13.0	NM_018708	B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	hg19	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	A	8.208	0.799671	0.16397	.	.	ENSG00000141965	ENST00000269856	T	0.66280	-0.2	4.73	3.57	0.40892	.	0.075028	0.56097	U	0.000031	T	0.50939	0.1645	L	0.45352	1.415	0.42105	D	0.991357	B	0.22983	0.078	B	0.25405	0.06	T	0.36311	-0.9753	10	0.22109	T	0.4	-0.1881	10.0274	0.42079	0.9118:0.0:0.0882:0.0	.	350	Q9BSK4	FEM1A_HUMAN	S	350	ENSP00000269856:Y350S	ENSP00000269856:Y350S	Y	+	2	0	FEM1A	4743915	1.000000	0.71417	0.224000	0.23877	0.991000	0.79684	4.214000	0.58527	0.523000	0.28482	0.402000	0.26972	TAT	.	.		0.652	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1		
ZNF626	199777	hgsc.bcm.edu	37	19	20807980	20807980	+	Missense_Mutation	SNP	C	C	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr19:20807980C>A	ENST00000601440.1	-	4	849	c.703G>T	c.(703-705)Ggc>Tgc	p.G235C	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	235					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(1)|endometrium(1)|lung(3)|skin(1)	6						AAGGCTTTGCCACATTCTTCA	0.393																																					p.G235C		Atlas-SNP	.											.	ZNF626	121	.	0			c.G703T						.						54.0	58.0	56.0					19																	20807980		2181	4287	6468	SO:0001583	missense	199777	exon4			CTTTGCCACATTC	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.703G>T	chr19.hg19:g.20807980C>A	ENSP00000469958:p.Gly235Cys	29.0	0.0		39.0	8.0	NM_001076675	Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	hg19	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	12.67	2.006714	0.35415	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.798	0.798	0.18660	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85457	0.5701	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83154	-0.0102	8	0.87932	D	0	.	6.9412	0.24494	0.0:0.9999:0.0:1.0E-4	.	235	Q68DY1	ZN626_HUMAN	C	235;159;235	.	ENSP00000445201:G235C	G	-	1	0	ZNF626	20599820	0.000000	0.05858	0.582000	0.28627	0.581000	0.36288	0.651000	0.24873	0.162000	0.19483	0.165000	0.16767	GGC	.	.		0.393	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297	
SRRM5	100170229	hgsc.bcm.edu	37	19	44116772	44116772	+	Missense_Mutation	SNP	G	G	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr19:44116772G>A	ENST00000607544.1	+	3	821	c.499G>A	c.(499-501)Ggg>Agg	p.G167R	ZNF428_ENST00000300811.3_Intron|SRRM5_ENST00000526798.1_Missense_Mutation_p.G182R|SRRM5_ENST00000417606.1_Missense_Mutation_p.G167R			B3KS81	SRRM5_HUMAN	serine/arginine repetitive matrix 5	167	Ser-rich.									endometrium(11)|kidney(2)|skin(1)|stomach(1)	15						ACAGCAAAAAGGGAGCCGGGG	0.582																																					p.G167R		Atlas-SNP	.											.	SRRM5	38	.	0			c.G499A						.						58.0	66.0	64.0					19																	44116772		692	1591	2283	SO:0001583	missense	100170229	exon1			CAAAAAGGGAGCC	AK297891	CCDS46095.1	19q13.31	2013-09-20			ENSG00000226763	ENSG00000226763			37248	protein-coding gene	gene with protein product							Standard	NM_001145641		Approved		uc010xwr.2	B3KS81	OTTHUMG00000165480	ENST00000607544.1:c.499G>A	chr19.hg19:g.44116772G>A	ENSP00000476253:p.Gly167Arg	36.0	0.0		59.0	15.0	NM_001145641	B4DNF0	Missense_Mutation	SNP	ENST00000607544.1	hg19	CCDS46095.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.098863	0.00360	.	.	ENSG00000226763	ENST00000526798;ENST00000417606	.	.	.	4.19	1.99	0.26369	.	.	.	.	.	T	0.15478	0.0373	N	0.08118	0	0.18873	N	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.29822	-0.9999	8	0.07813	T	0.8	.	7.7174	0.28712	0.1757:0.4796:0.3447:0.0	.	167	B3KS81	SRRM5_HUMAN	R	182;167	.	ENSP00000414512:G167R	G	+	1	0	SRRM5	48808612	0.008000	0.16893	0.036000	0.18154	0.014000	0.08584	0.385000	0.20685	0.681000	0.31386	-0.128000	0.14901	GGG	.	.		0.582	SRRM5-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000384398.2	NM_001145641	
PPP5C	5536	hgsc.bcm.edu	37	19	46857048	46857048	+	Silent	SNP	C	C	T	rs374930457		TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr19:46857048C>T	ENST00000012443.4	+	2	268	c.165C>T	c.(163-165)atC>atT	p.I55I	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	55					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GCCAGGCCATCGAGCTGAACC	0.617																																					p.I55I		Atlas-SNP	.											.	PPP5C	44	.	0			c.C165T						.	C	,	1,4405	2.1+/-5.4	0,1,2202	81.0	59.0	67.0		165,165	1.8	1.0	19		67	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PPP5C	NM_001204284.1,NM_006247.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	55/478,55/500	46857048	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5536	exon2			GGCCATCGAGCTG		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.165C>T	chr19.hg19:g.46857048C>T		77.0	0.0		78.0	23.0	NM_006247	Q16722|Q53XV2	Silent	SNP	ENST00000012443.4	hg19	CCDS12684.1																																																																																			.	.		0.617	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247	
NKG7	4818	hgsc.bcm.edu	37	19	51875422	51875422	+	Silent	SNP	A	A	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr19:51875422A>G	ENST00000221978.5	-	2	476	c.297T>C	c.(295-297)ttT>ttC	p.F99F	NKG7_ENST00000600427.1_Silent_p.F64F|NKG7_ENST00000595217.1_Silent_p.F64F	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	99						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TACCTGCAGCAAAGGCTGCGG	0.627																																					p.F99F		Atlas-SNP	.											.	NKG7	20	.	0			c.T297C						.						74.0	83.0	80.0					19																	51875422		2203	4300	6503	SO:0001819	synonymous_variant	4818	exon2			TGCAGCAAAGGCT		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"""granule membrane protein 17"""	606008	"""natural killer cell group 7 sequence"""			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.297T>C	chr19.hg19:g.51875422A>G		37.0	0.0		44.0	9.0	NM_005601		Silent	SNP	ENST00000221978.5	hg19	CCDS12830.1																																																																																			.	.		0.627	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601	
ZNF350	59348	hgsc.bcm.edu	37	19	52468795	52468795	+	Missense_Mutation	SNP	T	T	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr19:52468795T>G	ENST00000243644.4	-	5	1138	c.911A>C	c.(910-912)aAt>aCt	p.N304T	HCCAT3_ENST00000600253.1_RNA|ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	304					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TACAATGAGATTTCCTTTCTG	0.398																																					p.N304T		Atlas-SNP	.											.	ZNF350	48	.	0			c.A911C						.						116.0	109.0	111.0					19																	52468795		2203	4300	6503	SO:0001583	missense	59348	exon5			ATGAGATTTCCTT	AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.911A>C	chr19.hg19:g.52468795T>G	ENSP00000243644:p.Asn304Thr	152.0	0.0		183.0	57.0	NM_021632	Q96G73|Q9HAQ4	Missense_Mutation	SNP	ENST00000243644.4	hg19	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	T	5.803	0.332392	0.10956	.	.	ENSG00000256683	ENST00000243644	T	0.07021	3.23	3.41	-0.00732	0.14009	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39407	N	0.001364	T	0.11067	0.0270	L	0.48642	1.525	0.09310	N	1	D	0.67145	0.996	P	0.59221	0.854	T	0.23940	-1.0174	10	0.17832	T	0.49	.	3.2949	0.06963	0.1748:0.3117:0.0:0.5135	.	304	Q9GZX5	ZN350_HUMAN	T	304	ENSP00000243644:N304T	ENSP00000243644:N304T	N	-	2	0	ZNF350	57160607	0.000000	0.05858	0.001000	0.08648	0.092000	0.18411	-1.186000	0.03070	-0.308000	0.08792	-0.468000	0.05107	AAT	.	.		0.398	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632	
ZNF665	79788	hgsc.bcm.edu	37	19	53668481	53668481	+	Missense_Mutation	SNP	C	C	A	rs375603672	byFrequency	TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr19:53668481C>A	ENST00000600412.1	-	2	1182	c.1067G>T	c.(1066-1068)cGa>cTa	p.R356L	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.R421L			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	356					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)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ATGAATTCTTCGATGATTTGC	0.408																																					p.R421L		Atlas-SNP	.											.,2	ZNF665	136	.	0			c.G1262T						.						82.0	88.0	86.0					19																	53668481		2202	4298	6500	SO:0001583	missense	79788	exon4			ATTCTTCGATGAT		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1067G>T	chr19.hg19:g.53668481C>A	ENSP00000469154:p.Arg356Leu	74.0	0.0		94.0	29.0	NM_024733	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.09	1.834024	0.32421	.	.	ENSG00000197497	ENST00000396424	T	0.05649	3.41	2.26	-4.52	0.03472	.	.	.	.	.	T	0.02727	0.0082	N	0.05280	-0.08	0.09310	N	0.999995	P	0.40197	0.706	B	0.40285	0.325	T	0.30149	-0.9988	9	0.49607	T	0.09	.	2.7641	0.05315	0.3174:0.2193:0.0:0.4633	.	421	Q9H7R5-2	.	L	421	ENSP00000379702:R421L	ENSP00000379702:R421L	R	-	2	0	ZNF665	58360293	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.574000	0.05868	-1.554000	0.01700	-1.951000	0.00486	CGA	.	.		0.408	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733	
CACNG7	59284	hgsc.bcm.edu	37	19	54445427	54445427	+	Silent	SNP	G	G	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr19:54445427G>A	ENST00000391767.1	+	6	920	c.708G>A	c.(706-708)gcG>gcA	p.A236A	CACNG7_ENST00000222212.2_Silent_p.A236A			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	236				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). {ECO:0000305}.	calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		AGCCCGAGGCGTGGCGCCGCG	0.667																																					p.A236A		Atlas-SNP	.											.	CACNG7	58	.	0			c.G708A						.						85.0	86.0	86.0					19																	54445427		2203	4300	6503	SO:0001819	synonymous_variant	59284	exon5			CGAGGCGTGGCGC	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.708G>A	chr19.hg19:g.54445427G>A		59.0	0.0		47.0	19.0	NM_031896	Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Silent	SNP	ENST00000391767.1	hg19	CCDS12868.1																																																																																			.	.		0.667	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2		
NLRP7	199713	hgsc.bcm.edu	37	19	55453049	55453049	+	Missense_Mutation	SNP	G	G	C			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr19:55453049G>C	ENST00000590030.1	-	1	71	c.31C>G	c.(31-33)Cag>Gag	p.Q11E	NLRP7_ENST00000340844.2_Missense_Mutation_p.Q11E|NLRP7_ENST00000592784.1_Missense_Mutation_p.Q11E|NLRP7_ENST00000588756.1_Missense_Mutation_p.Q11E|NLRP7_ENST00000448121.2_Missense_Mutation_p.Q11E|NLRP7_ENST00000446217.1_Missense_Mutation_p.Q39E|NLRP7_ENST00000328092.5_Missense_Mutation_p.Q11E			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	11	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGAAGGGTCTGCAGAGTCCAC	0.488																																					p.Q11E		Atlas-SNP	.											.	NLRP7	411	.	0			c.C31G						.						39.0	39.0	39.0					19																	55453049		2203	4300	6503	SO:0001583	missense	199713	exon2			GGGTCTGCAGAGT	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.31C>G	chr19.hg19:g.55453049G>C	ENSP00000465520:p.Gln11Glu	93.0	0.0		93.0	24.0	NM_001127255	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	hg19	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	G	5.997	0.367782	0.11352	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	1.53	0.337	0.15966	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.37652	0.1011	M	0.64404	1.975	0.09310	N	1	P;P;P;P	0.44946	0.846;0.846;0.846;0.815	B;B;B;B	0.43386	0.418;0.418;0.418;0.293	T	0.29518	-1.0009	9	0.06236	T	0.91	.	4.6364	0.12527	0.0:0.0:0.6273:0.3727	.	39;11;11;11	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	E	11;11;11;39;11	ENSP00000329568:Q11E;ENSP00000409137:Q11E;ENSP00000339491:Q11E;ENSP00000414273:Q39E	ENSP00000329568:Q11E	Q	-	1	0	NLRP7	60144861	0.031000	0.19500	0.020000	0.16555	0.204000	0.24138	-0.174000	0.09839	0.144000	0.18951	0.313000	0.20887	CAG	.	.		0.488	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
PEG3	5178	hgsc.bcm.edu	37	19	57326459	57326459	+	Silent	SNP	C	C	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr19:57326459C>T	ENST00000326441.9	-	10	3714	c.3351G>A	c.(3349-3351)gtG>gtA	p.V1117V	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.V1117V|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Silent_p.V993V|PEG3_ENST00000593695.1_Silent_p.V991V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1117				V -> M (in Ref. 7; BAB85588). {ECO:0000305}.	apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTGTGAGATCCACAAAGCCCA	0.488																																					p.V1117V		Atlas-SNP	.											.	PEG3	414	.	0			c.G3351A						.						130.0	121.0	124.0					19																	57326459		2203	4300	6503	SO:0001819	synonymous_variant	5178	exon9			GAGATCCACAAAG	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3351G>A	chr19.hg19:g.57326459C>T		72.0	0.0		64.0	23.0	NM_001146184	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	hg19	CCDS12948.1																																																																																			.	.		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
SNTA1	6640	hgsc.bcm.edu	37	20	32000381	32000381	+	Splice_Site	SNP	C	C	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr20:32000381C>T	ENST00000217381.2	-	4	1180	c.909G>A	c.(907-909)caG>caA	p.Q303Q		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	303	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CAGCAGGTACCTGCTCAGTTA	0.642																																					p.Q303Q		Atlas-SNP	.											.	SNTA1	35	.	0			c.G909A						.						86.0	68.0	74.0					20																	32000381		2203	4300	6503	SO:0001630	splice_region_variant	6640	exon4			AGGTACCTGCTCA	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.909+1G>A	chr20.hg19:g.32000381C>T		44.0	0.0		42.0	14.0	NM_003098	A8K7H9|B4DX40|E1P5N1|Q16438	Silent	SNP	ENST00000217381.2	hg19	CCDS13220.1																																																																																			.	.		0.642	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098	Silent
CDH4	1002	hgsc.bcm.edu	37	20	60348088	60348088	+	Silent	SNP	G	G	T			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr20:60348088G>T	ENST00000360469.5	+	4	514	c.426G>T	c.(424-426)ctG>ctT	p.L142L	CDH4_ENST00000543233.1_Silent_p.L68L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	142					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCGTGGCTCTGGACCCCTCTC	0.597																																					p.L142L		Atlas-SNP	.											.	CDH4	172	.	0			c.G426T						.						41.0	40.0	40.0					20																	60348088		2203	4300	6503	SO:0001819	synonymous_variant	1002	exon4			GGCTCTGGACCCC	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.426G>T	chr20.hg19:g.60348088G>T		49.0	0.0		49.0	9.0	NM_001794	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	hg19	CCDS13488.1																																																																																			.	.		0.597	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	
FBLN1	2192	hgsc.bcm.edu	37	22	45946402	45946402	+	Missense_Mutation	SNP	A	A	G			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr22:45946402A>G	ENST00000327858.6	+	14	1699	c.1604A>G	c.(1603-1605)aAc>aGc	p.N535S	FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Missense_Mutation_p.N535S|FBLN1_ENST00000340923.5_Missense_Mutation_p.N535S|FBLN1_ENST00000442170.2_Missense_Mutation_p.N535S|FBLN1_ENST00000348697.2_Missense_Mutation_p.N535S|FBLN1_ENST00000402984.3_Missense_Mutation_p.N573S	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	535	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGCATCCACAACTGCTCCATC	0.597																																					p.N535S		Atlas-SNP	.											.	FBLN1	143	.	0			c.A1604G						.						92.0	72.0	79.0					22																	45946402		2203	4300	6503	SO:0001583	missense	2192	exon14			TCCACAACTGCTC		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1604A>G	chr22.hg19:g.45946402A>G	ENSP00000331544:p.Asn535Ser	38.0	0.0		46.0	9.0	NM_006487	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	hg19	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523637	0.44866	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	D;D;D;D;D;D	0.92199	-2.99;-2.26;-2.26;-2.99;-2.99;-2.26	4.97	4.97	0.65823	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);	0.060794	0.64402	D	0.000003	D	0.90363	0.6984	L	0.37850	1.14	0.39020	D	0.95973	P;P;B;B	0.48834	0.757;0.916;0.094;0.359	B;P;B;B	0.51582	0.214;0.674;0.068;0.234	D	0.90038	0.4140	10	0.38643	T	0.18	.	11.077	0.48038	0.8449:0.1551:0.0:0.0	.	573;535;535;535	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	S	535;573;535;535;535;535	ENSP00000262723:N535S;ENSP00000385521:N573S;ENSP00000262722:N535S;ENSP00000331544:N535S;ENSP00000393812:N535S;ENSP00000342212:N535S	ENSP00000262722:N535S	N	+	2	0	FBLN1	44325066	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.093000	0.57714	1.874000	0.54306	0.459000	0.35465	AAC	.	.		0.597	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486	
TEX11	56159	hgsc.bcm.edu	37	X	69942515	69942515	+	Silent	SNP	G	G	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chrX:69942515G>A	ENST00000395889.2	-	14	1157	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P	TEX11_ENST00000374333.2_Silent_p.P319P|TEX11_ENST00000374320.2_Silent_p.P9P|TEX11_ENST00000344304.3_Silent_p.P334P	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	334					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGAAGTCTAAGGGCATGTCAA	0.338																																					p.P334P		Atlas-SNP	.											.	TEX11	132	.	0			c.C1002T						.						121.0	97.0	105.0					X																	69942515		2203	4300	6503	SO:0001819	synonymous_variant	56159	exon14			GTCTAAGGGCATG	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1002C>T	chrX.hg19:g.69942515G>A		55.0	0.0		63.0	43.0	NM_001003811	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Silent	SNP	ENST00000395889.2	hg19	CCDS35323.1																																																																																			.	.		0.338	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		
IFT140	9742	hgsc.bcm.edu	37	16	1634278	1634278	+	Frame_Shift_Del	DEL	G	G	-	rs377217453		TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr16:1634278delG	ENST00000426508.2	-	11	1662	c.1299delC	c.(1297-1299)tccfs	p.S433fs	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	433					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CGACCCCCGTGGACAGGAAGC	0.632																																					p.T434fs		Atlas-INDEL	.											.	IFT140	128	.	0			c.1300delA						.						48.0	39.0	42.0					16																	1634278		2199	4300	6499	SO:0001589	frameshift_variant	9742	exon11			.	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1299delC	chr16.hg19:g.1634278delG	ENSP00000406012:p.Ser433fs	18.0	0.0		33.0	11.0	NM_014714	A2A2A8|D3DU75|O60332|Q9UG52	Frame_Shift_Del	DEL	ENST00000426508.2	hg19	CCDS10439.1																																																																																			.	.		0.632	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714	
APOB	338	hgsc.bcm.edu	37	2	21232125	21232125	+	Frame_Shift_Del	DEL	C	C	-	rs148170480	byFrequency	TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr2:21232125delC	ENST00000233242.1	-	26	7742	c.7615delG	c.(7615-7617)gtafs	p.V2539fs		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2539					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGGCCTACCAGAGACAGG	0.448																																					p.V2539fs		Atlas-Indel,Pindel	.											.	APOB	761	.	0			c.7616delT						.						122.0	102.0	108.0					2																	21232125		2203	4299	6502	SO:0001589	frameshift_variant	338	exon26			.	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7615delG	chr2.hg19:g.21232125delC	ENSP00000233242:p.Val2539fs	105.0	0.0		137.0	18.0	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Del	DEL	ENST00000233242.1	hg19	CCDS1703.1																																																																																			.	.		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
ZNRF3	84133	hgsc.bcm.edu	37	22	29445870	29445871	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr22:29445870_29445871delTG	ENST00000544604.2	+	8	1876_1877	c.1701_1702delTG	c.(1699-1704)tctgtgfs	p.V569fs	ZNRF3_ENST00000406323.3_Frame_Shift_Del_p.V469fs|ZNRF3_ENST00000402174.1_Frame_Shift_Del_p.V469fs|ZNRF3_ENST00000332811.4_Frame_Shift_Del_p.V469fs	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	569					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCAGTGACTCTGTGGTAGACTG	0.644																																					p.567_567del		Atlas-INDEL	.											.	ZNRF3	75	.	0			c.1700_1701del						.																																			SO:0001589	frameshift_variant	84133	exon8			.	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1701_1702delTG	chr22.hg19:g.29445872_29445873delTG	ENSP00000443824:p.Val569fs	42.0	0.0		42.0	10.0	NM_001206998	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Frame_Shift_Del	DEL	ENST00000544604.2	hg19	CCDS56225.1																																																																																			.	.		0.644	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972	
CTSB	1508	hgsc.bcm.edu	37	8	11705274	11705274	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr8:11705274delG	ENST00000353047.6	-	7	843	c.590delC	c.(589-591)ccafs	p.P197fs	CTSB_ENST00000415599.2_3'UTR|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000533455.1_Frame_Shift_Del_p.P197fs|CTSB_ENST00000531089.1_Frame_Shift_Del_p.P197fs|CTSB_ENST00000345125.3_Frame_Shift_Del_p.P197fs|CTSB_ENST00000534510.1_Frame_Shift_Del_p.P197fs|CTSB_ENST00000530640.2_Frame_Shift_Del_p.P197fs|CTSB_ENST00000525076.1_5'Flank|CTSB_ENST00000453527.2_Frame_Shift_Del_p.P197fs|CTSB_ENST00000434271.1_Frame_Shift_Del_p.P197fs	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	197					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCCCGTGCATGGGGGCCGGGA	0.627																																					p.P197fs		Atlas-INDEL	.											.	CTSB	24	.	0			c.591delA						.						76.0	76.0	76.0					8																	11705274		2203	4300	6503	SO:0001589	frameshift_variant	1508	exon8			.	M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.590delC	chr8.hg19:g.11705274delG	ENSP00000345672:p.Pro197fs	60.0	0.0		51.0	15.0	NM_147782	B3KQR5|B3KRR5|Q503A6|Q96D87	Frame_Shift_Del	DEL	ENST00000353047.6	hg19	CCDS5986.1																																																																																			.	.		0.627	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780	
CDH9	1007	hgsc.bcm.edu	37	5	26881520	26881521	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr5:26881520_26881521insA	ENST00000231021.4	-	12	2266_2267	c.2094_2095insT	c.(2092-2097)tttcagfs	p.Q699fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	699					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTCCTTATCTGAAAAATAGTTT	0.411																																					p.Q699fs	Melanoma(8;187 585 15745 40864 52829)	Atlas-INDEL	.											.	CDH9	305	.	0			c.2095_2096insT						.																																			SO:0001589	frameshift_variant	1007	exon12			.	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2095dupT	chr5.hg19:g.26881525_26881525dupA	ENSP00000231021:p.Gln699fs	149.0	0.0		166.0	46.0	NM_016279	Q3B7I5	Frame_Shift_Ins	INS	ENST00000231021.4	hg19	CCDS3893.1																																																																																			.	.		0.411	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
FIGN	55137	hgsc.bcm.edu	37	2	164467480	164467481	+	Frame_Shift_Ins	INS	-	-	G	rs376830180	byFrequency	TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr2:164467480_164467481insG	ENST00000333129.3	-	3	1175_1176	c.861_862insC	c.(859-864)cccaccfs	p.T288fs	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	288	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GGAACAGTGGTGGGGGGTAGGG	0.589																																					p.T288fs		Atlas-INDEL	.											.	FIGN	106	.	0			c.862_863insC						.																																			SO:0001589	frameshift_variant	55137	exon3			.	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.862dupC	chr2.hg19:g.164467486_164467486dupG	ENSP00000333836:p.Thr288fs	70.0	0.0		67.0	12.0	NM_018086	B3KWM0|Q9H6M5|Q9NVZ9	Frame_Shift_Ins	INS	ENST00000333129.3	hg19	CCDS2221.2																																																																																			.	.		0.589	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086	
CORO6	84940	hgsc.bcm.edu	37	17	27943827	27943828	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr17:27943827_27943828delCT	ENST00000445145.2	-	7	897_898	c.896_897delAG	c.(895-897)gagfs	p.E299fs	RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000345068.5_Frame_Shift_Del_p.E299fs|CORO6_ENST00000580212.1_Frame_Shift_Del_p.E259fs|CORO6_ENST00000456796.3_Frame_Shift_Del_p.E65fs|CORO6_ENST00000584969.1_Frame_Shift_Del_p.E299fs|CORO6_ENST00000388767.3_Frame_Shift_Del_p.E299fs			Q6QEF8	CORO6_HUMAN	coronin 6	299					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CGAAAGGCGGCTCGTCGGTAAT	0.584																																					p.299_300del		Atlas-Indel,Pindel	.											.	CORO6	34	.	0			c.897_898del						.																																			SO:0001589	frameshift_variant	84940	exon7			.	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.896_897delAG	chr17.hg19:g.27943827_27943828delCT	ENSP00000393624:p.Glu299fs	61.0	0.0		66.0	20.0	NM_032854	B3KU26|Q71MF3|Q8WYH7|Q96K02	Frame_Shift_Del	DEL	ENST00000445145.2	hg19																																																																																				.	.		0.584	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854	
CCDC144NL	339184	hgsc.bcm.edu	37	17	20769875	20769875	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr17:20769875delG	ENST00000327925.5	-	3	676	c.557delC	c.(556-558)ccafs	p.P186fs	RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|CCDC144NL_ENST00000539484.1_Intron|RP11-344E13.3_ENST00000582324.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	186										large_intestine(3)|lung(3)|skin(1)	7						aggcccccgtgggtgccctcc	0.602																																					p.P186fs		Atlas-INDEL	.											.	CCDC144NL	34	.	0			c.558delA						.						44.0	32.0	36.0					17																	20769875		2200	4297	6497	SO:0001589	frameshift_variant	339184	exon3			.		CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.557delC	chr17.hg19:g.20769875delG	ENSP00000328054:p.Pro186fs	71.0	0.0		82.0	13.0	NM_001004306		Frame_Shift_Del	DEL	ENST00000327925.5	hg19	CCDS32591.1																																																																																			.	.		0.602	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306	
BIRC7	79444	hgsc.bcm.edu	37	20	61867529	61867529	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr20:61867529delG	ENST00000217169.3	+	1	295	c.81delG	c.(79-81)cagfs	p.Q27fs	BIRC7_ENST00000395306.1_5'Flank|BIRC7_ENST00000342412.6_Frame_Shift_Del_p.Q27fs|MIR3196_ENST00000579556.1_RNA	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	27					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GTCCCACGCAGGAGCGCTGTG	0.667																																					p.Q27fs		Atlas-Indel,Pindel	.											.	BIRC7	25	.	0			c.80delA						.						16.0	15.0	15.0					20																	61867529		2182	4287	6469	SO:0001589	frameshift_variant	79444	exon1			.	AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	13702	protein-coding gene	gene with protein product	"""melanoma inhibitor of apoptosis protein"", ""kidney inhibitor of apoptosis protein"", ""livin inhibitor-of-apoptosis"", ""livin"""	605737	"""baculoviral IAP repeat-containing 7"""			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.81delG	chr20.hg19:g.61867529delG	ENSP00000217169:p.Gln27fs	96.0	0.0		79.0	14.0	NM_139317	Q9BQV0|Q9H2A8|Q9HAP7	Frame_Shift_Del	DEL	ENST00000217169.3	hg19	CCDS13513.1																																																																																			.	.		0.667	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317	
ATXN7L2	127002	hgsc.bcm.edu	37	1	110029743	110029743	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr1:110029743delC	ENST00000369870.3	+	4	428	c.413delC	c.(412-414)gccfs	p.A138fs		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	138										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCTTGTAGGGCCCCAGGTTCC	0.637																																					p.A138fs		Atlas-Indel,Pindel	.											.	ATXN7L2	60	.	0			c.412delG						.						22.0	26.0	24.0					1																	110029743		2202	4300	6502	SO:0001589	frameshift_variant	127002	exon4			.	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.413delC	chr1.hg19:g.110029743delC	ENSP00000358886:p.Ala138fs	111.0	0.0		114.0	33.0	NM_153340		Frame_Shift_Del	DEL	ENST00000369870.3	hg19	CCDS30794.1																																																																																			.	.		0.637	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340	
EP400NL	347918	hgsc.bcm.edu	37	12	132588784	132588791	+	Frame_Shift_Del	DEL	GGGAAGCC	GGGAAGCC	-			TCGA-FV-A2QQ-01A-11D-A22F-10	TCGA-FV-A2QQ-10B-01D-A22F-10	GGGAAGCC	GGGAAGCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4904d56f-0fe7-4482-8f6d-9e54d261f399	e31c3b51-9a28-4191-b67f-21ac68e47c1e	g.chr12:132588784_132588791delGGGAAGCC	ENST00000376625.4	+	1	245_252	c.219_226delGGGAAGCC	c.(217-228)cagggaagcccafs	p.QGSP73fs	EP400NL_ENST00000443539.2_Intron|EP400NL_ENST00000361109.5_Intron|EP400NL_ENST00000389560.2_Intron|EP400NL_ENST00000392352.1_Intron			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like	73										endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						CTGGGCTCCAGGGAAGCCCACAGGTCAC	0.654																																					.		Atlas-INDEL	.											.	EP400NL	29	.	0			.						.																																			SO:0001589	frameshift_variant	347918	.			.	AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251	ENST00000376625.4:c.219_226delGGGAAGCC	chr12.hg19:g.132588784_132588791delGGGAAGCC	ENSP00000365812:p.Gln73fs	162.0	0.0		102.0	20.0	.	A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	RNA	DEL	ENST00000376625.4	hg19																																																																																				.	.		0.654	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_182613	
