#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_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	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
SCD	6319	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	102112184	102112184	+	Silent	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:102112184C>T	ENST00000370355.2	+	3	753	c.372C>T	c.(370-372)agC>agT	p.S124S		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	124					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		GTCTGTGGAGCCACCGCTCTT	0.522																																					Colon(67;260 1459 9574 11663)											0													137.0	130.0	132.0					10																	102112184		2203	4300	6503	SO:0001819	synonymous_variant	6319			AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.372C>T	10.37:g.102112184C>T			B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Silent	SNP	ENST00000370355.2	37	CCDS7493.1																																																																																				0.522	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		88	144	88	144
SLC39A13	91252	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	47434972	47434972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr11:47434972G>A	ENST00000362021.4	+	5	601	c.559G>A	c.(559-561)Gct>Act	p.A187T	SLC39A13_ENST00000524928.1_Missense_Mutation_p.A187T|SLC39A13_ENST00000529740.1_3'UTR|SLC39A13_ENST00000354884.4_Missense_Mutation_p.A187T|SLC39A13_ENST00000533076.1_Missense_Mutation_p.A187T	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	187	Poly-Ala.				cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		AGACCCCACTGCTGCTGCCGC	0.657																																																0													32.0	34.0	33.0					11																	47434972		2201	4298	6499	SO:0001583	missense	91252				CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"""Solute carriers"""	20859	protein-coding gene	gene with protein product		608735	"""solute carrier family 39 (metal ion transporter), member 13"""			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.559G>A	11.37:g.47434972G>A	ENSP00000354689:p.Ala187Thr		D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Missense_Mutation	SNP	ENST00000362021.4	37	CCDS44592.1	.	.	.	.	.	.	.	.	.	.	G	7.442	0.640993	0.14386	.	.	ENSG00000165915	ENST00000533076;ENST00000362021;ENST00000354884;ENST00000526614;ENST00000524928	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	3.32	1.29	0.21616	.	0.802697	0.12200	N	0.490387	T	0.43077	0.1231	N	0.16130	0.375	0.09310	N	1	P;B;D	0.69078	0.625;0.244;0.997	B;B;D	0.83275	0.258;0.043;0.996	T	0.30357	-0.9981	10	0.17369	T	0.5	.	4.9636	0.14080	0.3174:0.0:0.6826:0.0	.	187;187;187	Q96H72;Q96H72-2;E9PNE7	S39AD_HUMAN;.;.	T	187	ENSP00000434290:A187T;ENSP00000354689:A187T;ENSP00000346956:A187T;ENSP00000432499:A187T;ENSP00000437186:A187T	ENSP00000346956:A187T	A	+	1	0	SLC39A13	47391548	0.011000	0.17503	0.685000	0.30070	0.628000	0.37860	-0.470000	0.06639	0.190000	0.20209	-0.391000	0.06502	GCT		0.657	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395652.1	NM_152264		17	44	17	44
KRT6C	286887	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	52863046	52863046	+	Missense_Mutation	SNP	C	C	T	rs140943956	byFrequency	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:52863046C>T	ENST00000252250.6	-	9	1542	c.1495G>A	c.(1495-1497)Ggt>Agt	p.G499S		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	499	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G499S(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CCGCTGGCACCGCCATAGCCA	0.612													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		21083	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	skin(1)						C	SER/GLY	3,4403	6.2+/-15.9	0,3,2200	45.0	43.0	44.0		1495	-3.0	0.0	12	dbSNP_134	44	0,8600		0,0,4300	no	missense	KRT6C	NM_173086.4	56	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	499/565	52863046	3,13003	2203	4300	6503	SO:0001583	missense	286887			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1495G>A	12.37:g.52863046C>T	ENSP00000252250:p.Gly499Ser		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	C	9.197	1.027522	0.19512	6.81E-4	0.0	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.90197	-2.63	3.35	-3.05	0.05396	.	0.764153	0.11858	N	0.522647	T	0.78394	0.4276	N	0.15975	0.35	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.63229	-0.6684	10	0.35671	T	0.21	.	7.3586	0.26733	0.1246:0.6854:0.0:0.1899	.	499	P48668	K2C6C_HUMAN	S	499;484	ENSP00000252250:G499S	ENSP00000252250:G499S	G	-	1	0	KRT6C	51149313	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.904000	0.01593	-0.571000	0.06014	0.448000	0.29417	GGT		0.612	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		7	33	7	33
PA2G4	5036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	56501319	56501319	+	Silent	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:56501319A>G	ENST00000303305.6	+	5	827	c.408A>G	c.(406-408)acA>acG	p.T136T	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Silent_p.T136T|RP11-603J24.9_ENST00000548861.1_Silent_p.T117T	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	136					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CCCAAGTAACAGGGAGGAAAG	0.453																																																0													122.0	121.0	121.0					12																	56501319		2203	4300	6503	SO:0001819	synonymous_variant	5036			U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.408A>G	12.37:g.56501319A>G			O43846|Q9UM59	Silent	SNP	ENST00000303305.6	37	CCDS8902.1																																																																																				0.453	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		24	169	24	169
BNIP2	663	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	59961125	59961125	+	Missense_Mutation	SNP	T	T	C	rs201360063		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:59961125T>C	ENST00000607373.1	-	9	1061	c.859A>G	c.(859-861)Atg>Gtg	p.M287V	BNIP2_ENST00000478981.1_5'UTR|AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000267859.3_Missense_Mutation_p.M408V|BNIP2_ENST00000415213.2_Missense_Mutation_p.M349V	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	287	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						ACGTATTCCATGGGGACAAGT	0.308																																					Ovarian(174;1936 1978 6671 8240 38212)											0								T	VAL/MET	0,4380		0,0,2190	86.0	82.0	83.0		1222	5.9	1.0	15		83	2,8578	1.2+/-3.3	0,2,4288	yes	missense	BNIP2	NM_004330.2	21	0,2,6478	CC,CT,TT		0.0233,0.0,0.0154	benign	408/436	59961125	2,12958	2190	4290	6480	SO:0001583	missense	663			U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"""BCL2/adenovirus E1B 19kD-interacting protein 2"""			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000607373.1:c.859A>G	15.37:g.59961125T>C	ENSP00000475320:p.Met287Val		B4DS94	Missense_Mutation	SNP	ENST00000607373.1	37		.	.	.	.	.	.	.	.	.	.	T	20.4	3.975876	0.74360	0.0	2.33E-4	ENSG00000140299	ENST00000267859;ENST00000415213;ENST00000439052	D;D;T	0.83837	-1.77;-1.77;0.07	5.93	5.93	0.95920	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.81725	0.4883	L	0.43554	1.36	0.80722	D	1	B;B	0.33379	0.41;0.198	B;B	0.41174	0.349;0.237	T	0.78585	-0.2147	9	.	.	.	-17.4239	16.3871	0.83514	0.0:0.0:0.0:1.0	.	287;349	Q12982;Q12982-2	BNIP2_HUMAN;.	V	408;349;165	ENSP00000267859:M408V;ENSP00000412767:M349V;ENSP00000393644:M165V	.	M	-	1	0	BNIP2	57748417	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.698000	0.84413	2.270000	0.75569	0.482000	0.46254	ATG		0.308	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470740.1	NM_004330		40	64	40	64
TLN2	83660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	63127959	63127959	+	Silent	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:63127959T>C	ENST00000561311.1	+	55	7382	c.7152T>C	c.(7150-7152)gcT>gcC	p.A2384A	RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Silent_p.A2384A|RP11-1069G10.1_ENST00000558888.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2384	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTGCCAATGCTGCAGACGACG	0.602																																																0													182.0	186.0	185.0					15																	63127959		2203	4300	6503	SO:0001819	synonymous_variant	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7152T>C	15.37:g.63127959T>C			A6NLB8	Silent	SNP	ENST00000561311.1	37	CCDS32261.1																																																																																				0.602	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			54	257	54	257
IDH2	3418	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	90631837	90631837	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:90631837C>A	ENST00000330062.3	-	4	629	c.516G>T	c.(514-516)agG>agT	p.R172S	IDH2_ENST00000539790.1_Missense_Mutation_p.R42S|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120S	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172S(17)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CATGGGCGTGCCTGCCAATGG	0.637			M		GBM																																		Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	18	Substitution - Missense(18)	bone(11)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|biliary_tract(1)|large_intestine(1)											85.0	80.0	82.0					15																	90631837		2200	4298	6498	SO:0001583	missense	3418				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.516G>T	15.37:g.90631837C>A	ENSP00000331897:p.Arg172Ser		B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068847	0.36470	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86865	-2.18;-2.18;-2.18	5.93	-3.19	0.05171	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94112	0.8112	H	0.98487	4.245	0.53005	D	0.99996	D	0.89917	1.0	D	0.91635	0.999	D	0.89382	0.3682	10	0.87932	D	0	.	5.0108	0.14312	0.237:0.2848:0.0:0.4782	.	172	P48735	IDHP_HUMAN	S	172;42;120	ENSP00000331897:R172S;ENSP00000438457:R42S;ENSP00000446147:R120S	ENSP00000331897:R172S	R	-	3	2	IDH2	88432841	0.145000	0.22656	0.004000	0.12327	0.001000	0.01503	-0.449000	0.06812	-0.649000	0.05430	-1.288000	0.01363	AGG		0.637	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			28	49	28	49
FAM57B	83723	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	30037991	30037991	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:30037991T>C	ENST00000380495.4	-	3	1114	c.383A>G	c.(382-384)aAg>aGg	p.K128R	FAM57B_ENST00000279389.4_Missense_Mutation_p.K78R|FAM57B_ENST00000564806.1_Missense_Mutation_p.K78R	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	128	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GAGGAACTCCTTGTGCAGGTA	0.677																																																0													62.0	56.0	58.0					16																	30037991		2197	4300	6497	SO:0001583	missense	83723			AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.383A>G	16.37:g.30037991T>C	ENSP00000369863:p.Lys128Arg		Q9H0J1	Missense_Mutation	SNP	ENST00000380495.4	37	CCDS10667.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.44|13.44	2.238468|2.238468	0.39598|0.39598	.|.	.|.	ENSG00000149926|ENSG00000149926	ENST00000380495|ENST00000279389	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	TRAM/LAG1/CLN8 homology domain (3);|.	0.056282|.	0.64402|.	D|.	0.000003|.	T|T	0.40694|0.40694	0.1127|0.1127	N|N	0.11364|0.11364	0.135|0.135	0.36806|0.36806	D|D	0.885625|0.885625	B;B|.	0.29909|.	0.217;0.261|.	B;B|.	0.36378|.	0.193;0.223|.	T|T	0.48433|0.48433	-0.9036|-0.9036	9|5	0.17832|.	T|.	0.49|.	-0.4012|-0.4012	15.1763|15.1763	0.72913|0.72913	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	128;128|.	F1T0F5;Q71RH2|.	.;FA57B_HUMAN|.	R|G	128|95	.|.	ENSP00000369863:K128R|.	K|R	-|-	2|1	0|2	FAM57B|FAM57B	29945492|29945492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.902000|0.902000	0.53008|0.53008	4.707000|4.707000	0.61852|0.61852	2.220000|2.220000	0.72140|0.72140	0.533000|0.533000	0.62120|0.62120	AAG|AGG		0.677	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2	NM_031478		22	55	22	55
GNAO1	2775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	56226231	56226231	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:56226231C>G	ENST00000262493.6	+	1	930	c.84C>G	c.(82-84)atC>atG	p.I28M	GNAO1_ENST00000262494.7_Missense_Mutation_p.I28M|GNAO1_ENST00000569295.1_3'UTR|RP11-461O7.1_ENST00000501259.1_lincRNA|CTD-2050B12.2_ENST00000567381.1_RNA	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	28					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AGGATGGCATCAGCGCCGCCA	0.637																																																0													40.0	43.0	42.0					16																	56226231		2198	4300	6498	SO:0001583	missense	2775				CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.84C>G	16.37:g.56226231C>G	ENSP00000262493:p.Ile28Met		P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451564	0.43531	.	.	ENSG00000087258	ENST00000262493;ENST00000262494	D;D	0.88201	-2.35;-2.35	4.75	3.76	0.43208	.	0.129961	0.52532	D	0.000063	T	0.78084	0.4228	N	0.10760	0.04	0.43050	D	0.994656	B;B	0.06786	0.001;0.001	B;B	0.18871	0.021;0.023	T	0.70883	-0.4751	10	0.36615	T	0.2	.	13.3624	0.60663	0.0:0.8402:0.1598:0.0	.	28;28	P09471;P09471-2	GNAO_HUMAN;.	M	28	ENSP00000262493:I28M;ENSP00000262494:I28M	ENSP00000262493:I28M	I	+	3	3	GNAO1	54783732	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.630000	0.37081	0.933000	0.37291	0.455000	0.32223	ATC		0.637	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		37	42	37	42
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		74	43	74	43
EPB41L3	23136	hgsc.bcm.edu;broad.mit.edu	37	18	5397173	5397173	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr18:5397173C>G	ENST00000341928.2	-	18	3065	c.2725G>C	c.(2725-2727)Gtc>Ctc	p.V909L	EPB41L3_ENST00000342933.3_Missense_Mutation_p.V909L|EPB41L3_ENST00000540638.2_Missense_Mutation_p.V687L|EPB41L3_ENST00000544123.1_Missense_Mutation_p.V740L|EPB41L3_ENST00000542146.1_Missense_Mutation_p.V214L|EPB41L3_ENST00000427684.2_Missense_Mutation_p.V206L|EPB41L3_ENST00000400111.3_Missense_Mutation_p.V687L|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	909	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCTTTAGCGACCTCCTCCCCT	0.567																																																0													125.0	103.0	110.0					18																	5397173		2203	4300	6503	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2725G>C	18.37:g.5397173C>G	ENSP00000343158:p.Val909Leu		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104659	0.20632	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	5.78	3.97	0.46021	.	1.106020	0.06694	N	0.770227	T	0.49047	0.1534	L	0.29908	0.895	0.30194	N	0.799216	B;B;B;B;B;B;B;B	0.30511	0.019;0.282;0.234;0.008;0.002;0.004;0.017;0.025	B;B;B;B;B;B;B;B	0.40982	0.046;0.345;0.209;0.021;0.002;0.019;0.044;0.008	T	0.48854	-0.8998	10	0.19147	T	0.46	.	10.447	0.44499	0.135:0.7951:0.0:0.0699	.	740;206;214;301;578;687;909;144	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	L	909;578;740;578;206;214;909;687	ENSP00000343158:V909L;ENSP00000441174:V740L;ENSP00000392195:V206L;ENSP00000442233:V214L;ENSP00000341138:V909L;ENSP00000382981:V687L	ENSP00000343158:V909L	V	-	1	0	EPB41L3	5387173	0.999000	0.42202	0.345000	0.25642	0.211000	0.24417	1.995000	0.40767	0.773000	0.33404	0.591000	0.81541	GTC		0.567	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		8	134	8	134
VAV1	7409	hgsc.bcm.edu;broad.mit.edu	37	19	6828446	6828446	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr19:6828446C>T	ENST00000602142.1	+	11	1122	c.1040C>T	c.(1039-1041)aCg>aTg	p.T347M	VAV1_ENST00000596764.1_Missense_Mutation_p.T315M|VAV1_ENST00000539284.1_Missense_Mutation_p.T250M|VAV1_ENST00000599806.1_Missense_Mutation_p.T292M|VAV1_ENST00000304076.2_Missense_Mutation_p.T347M	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	347	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T347M(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTGAAACACACGCAGGAGGCG	0.622																																																1	Substitution - Missense(1)	large_intestine(1)											65.0	66.0	65.0					19																	6828446		2203	4300	6503	SO:0001583	missense	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1040C>T	19.37:g.6828446C>T	ENSP00000472929:p.Thr347Met		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273812	0.80580	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.72394	-0.65;-0.65	4.7	4.7	0.59300	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.86843	0.6030	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.78314	0.847;0.957;0.985;0.991	D	0.89867	0.4020	10	0.72032	D	0.01	.	15.4995	0.75684	0.0:1.0:0.0:0.0	.	250;347;292;347	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	M	347;250	ENSP00000302269:T347M;ENSP00000443242:T250M	ENSP00000302269:T347M	T	+	2	0	VAV1	6779446	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	5.090000	0.64498	2.337000	0.79520	0.467000	0.42956	ACG		0.622	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			6	69	6	69
OVGP1	5016	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	111966210	111966210	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:111966210T>A	ENST00000369732.3	-	5	493	c.438A>T	c.(436-438)agA>agT	p.R146S	OVGP1_ENST00000481495.1_5'Flank|OVGP1_ENST00000540696.1_Missense_Mutation_p.R86S	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	146					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TGGGGCTGCCTCTTAGTCCAG	0.403																																																0													86.0	81.0	83.0					1																	111966210		2203	4300	6503	SO:0001583	missense	5016			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.438A>T	1.37:g.111966210T>A	ENSP00000358747:p.Arg146Ser		A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	CCDS834.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247162	0.59103	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000540696	T;T	0.05319	3.46;3.46	4.54	2.27	0.28462	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.10423	0.0255	M	0.70108	2.13	0.36196	D	0.850436	P;P;D	0.89917	0.813;0.706;1.0	P;P;D	0.87578	0.782;0.782;0.998	T	0.02047	-1.1223	10	0.87932	D	0	-14.7452	5.5518	0.17095	0.0:0.2191:0.0:0.7809	.	146;146;210	B2RA77;Q12889;Q59HH5	.;OVGP1_HUMAN;.	S	146;210;86	ENSP00000358747:R146S;ENSP00000438449:R86S	ENSP00000358743:R210S	R	-	3	2	OVGP1	111767733	0.991000	0.36638	0.978000	0.43139	0.362000	0.29581	0.121000	0.15667	0.872000	0.35775	0.482000	0.46254	AGA		0.403	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		21	56	21	56
PGLYRP4	57115	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	153315567	153315567	+	Splice_Site	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:153315567T>C	ENST00000359650.5	-	5	535	c.471A>G	c.(469-471)aaA>aaG	p.K157K	PGLYRP4_ENST00000490266.1_5'Flank|PGLYRP4_ENST00000368739.3_Splice_Site_p.K153K	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	157					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTGTTACCTTTCTTAGTGC	0.478																																																0													149.0	119.0	129.0					1																	153315567		2203	4300	6503	SO:0001630	splice_region_variant	57115			AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.472+1A>G	1.37:g.153315567T>C			A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Splice_Site	SNP	ENST00000359650.5	37	CCDS30871.1																																																																																				0.478	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393	Silent	21	30	21	30
PYGB	5834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	25261592	25261592	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr20:25261592C>G	ENST00000216962.4	+	11	1357	c.1247C>G	c.(1246-1248)gCc>gGc	p.A416G		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	416					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						CAGCACGTGGCCGCGCTGTTT	0.647																																																0													120.0	107.0	112.0					20																	25261592		2203	4300	6503	SO:0001583	missense	5834				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1247C>G	20.37:g.25261592C>G	ENSP00000216962:p.Ala416Gly		Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740889	0.30865	.	.	ENSG00000100994	ENST00000216962	D	0.92149	-2.98	4.02	4.02	0.46733	.	0.160037	0.56097	D	0.000032	D	0.90324	0.6973	M	0.66939	2.045	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	D	0.87474	0.2416	10	0.27785	T	0.31	-14.8536	16.2933	0.82760	0.0:1.0:0.0:0.0	.	416	P11216	PYGB_HUMAN	G	416	ENSP00000216962:A416G	ENSP00000216962:A416G	A	+	2	0	PYGB	25209592	1.000000	0.71417	0.932000	0.37286	0.016000	0.09150	4.669000	0.61575	2.231000	0.72958	0.462000	0.41574	GCC		0.647	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		28	185	28	185
PPP1CB	5500	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	29016792	29016792	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:29016792A>T	ENST00000395366.2	+	7	1080	c.808A>T	c.(808-810)Aat>Tat	p.N270Y	PPP1CB_ENST00000296122.6_Missense_Mutation_p.N270Y|SPDYA_ENST00000462832.1_3'UTR|PPP1CB_ENST00000358506.2_Missense_Mutation_p.N270Y	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	270					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TTCAGCCCCAAATTACTGTGG	0.348																																																0													147.0	135.0	139.0					2																	29016792		2203	4300	6503	SO:0001583	missense	5500				CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9282	protein-coding gene	gene with protein product		600590	"""protein phosphatase 1, catalytic subunit, beta isoform"""			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.808A>T	2.37:g.29016792A>T	ENSP00000378769:p.Asn270Tyr		B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Missense_Mutation	SNP	ENST00000395366.2	37	CCDS33169.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.711724	0.89112	.	.	ENSG00000213639	ENST00000358506;ENST00000296122;ENST00000395366	D;D;D	0.81739	-1.53;-1.53;-1.53	5.31	5.31	0.75309	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.040601	0.85682	D	0.000000	D	0.91408	0.7289	H	0.96430	3.82	0.80722	D	1	P	0.51653	0.947	P	0.56088	0.791	D	0.94056	0.7322	10	0.87932	D	0	-17.8983	15.5562	0.76196	1.0:0.0:0.0:0.0	.	270	P62140	PP1B_HUMAN	Y	270	ENSP00000351298:N270Y;ENSP00000296122:N270Y;ENSP00000378769:N270Y	ENSP00000296122:N270Y	N	+	1	0	PPP1CB	28870296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.139000	0.66308	0.477000	0.44152	AAT		0.348	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324841.1			17	51	17	51
CEP68	23177	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	65296819	65296819	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:65296819C>G	ENST00000377990.2	+	2	444	c.241C>G	c.(241-243)Cca>Gca	p.P81A	CEP68_ENST00000546106.1_Missense_Mutation_p.P81A|RAB1A_ENST00000494188.1_5'Flank|CEP68_ENST00000537589.1_Intron|CEP68_ENST00000260569.4_Missense_Mutation_p.P81A	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	81					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGCCCACCAGCCACAGGCCAG	0.632																																																0													36.0	42.0	40.0					2																	65296819		2203	4300	6503	SO:0001583	missense	23177			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.241C>G	2.37:g.65296819C>G	ENSP00000367229:p.Pro81Ala		B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591056	0.28357	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.28255	1.62;1.62;1.62	4.56	0.569	0.17340	.	0.561249	0.15174	N	0.276473	T	0.19406	0.0466	L	0.32530	0.975	0.09310	N	1	B;B;B;P;B	0.39022	0.017;0.017;0.007;0.655;0.017	B;B;B;B;B	0.40677	0.011;0.011;0.007;0.337;0.011	T	0.15235	-1.0444	10	0.17369	T	0.5	-0.0043	4.6767	0.12715	0.0:0.4498:0.3492:0.201	.	69;81;81;81;81	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	A	81;81;81;69	ENSP00000367229:P81A;ENSP00000438306:P81A;ENSP00000260569:P81A	ENSP00000260569:P81A	P	+	1	0	CEP68	65150323	0.001000	0.12720	0.004000	0.12327	0.026000	0.11368	0.297000	0.19101	0.090000	0.17273	-0.302000	0.09304	CCA		0.632	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		12	68	12	68
CXCR2	3579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	218999633	218999633	+	Missense_Mutation	SNP	G	G	A	rs75759064		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:218999633G>A	ENST00000318507.2	+	3	536	c.109G>A	c.(109-111)Gcc>Acc	p.A37T		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	37					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ACTAGATGCCGCCCCATGTGA	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19612	0.0		0.0	False		,,,				2504	0.0															0								G	THR/ALA,THR/ALA	0,4406		0,0,2203	138.0	134.0	135.0		109,109	-0.2	0.0	2	dbSNP_131	135	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CXCR2	NM_001168298.1,NM_001557.3	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	37/361,37/361	218999633	1,13005	2203	4300	6503	SO:0001583	missense	3579			U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.109G>A	2.37:g.218999633G>A	ENSP00000319635:p.Ala37Thr		Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	CCDS2408.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.924	0.961740	0.18583	0.0	1.16E-4	ENSG00000180871	ENST00000453237;ENST00000415392;ENST00000318507;ENST00000454148;ENST00000428565	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.29	-0.235	0.13071	.	1.705500	0.03116	N	0.163122	T	0.20780	0.0500	N	0.11201	0.11	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.16041	-1.0416	10	0.32370	T	0.25	.	6.1886	0.20512	0.152:0.0:0.2775:0.5705	.	37	P25025	CXCR2_HUMAN	T	37	ENSP00000413686:A37T;ENSP00000392348:A37T;ENSP00000319635:A37T;ENSP00000415148:A37T;ENSP00000392698:A37T	ENSP00000319635:A37T	A	+	1	0	CXCR2	218707878	0.000000	0.05858	0.027000	0.17364	0.060000	0.15804	0.060000	0.14342	-0.270000	0.09285	-0.225000	0.12378	GCC		0.448	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		72	147	72	147
SEMA6A	57556	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	115803413	115803413	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr5:115803413G>C	ENST00000343348.6	-	18	2547	c.1760C>G	c.(1759-1761)aCc>aGc	p.T587S	CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000513137.1_Missense_Mutation_p.T14S|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_Intron|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T604S|SEMA6A_ENST00000510263.1_Missense_Mutation_p.T587S|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	587					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ATCTGATGTGGTTGTGCTGGG	0.522																																																0													103.0	100.0	101.0					5																	115803413		1994	4160	6154	SO:0001583	missense	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1760C>G	5.37:g.115803413G>C	ENSP00000345512:p.Thr587Ser		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694075	0.30052	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000513137;ENST00000510263	T;T;T;T	0.48836	2.32;2.33;0.8;2.32	5.95	5.95	0.96441	.	1.353370	0.04754	N	0.425100	T	0.58963	0.2159	N	0.19112	0.55	0.80722	D	1	B;B;B;D	0.67145	0.001;0.004;0.0;0.996	B;B;B;D	0.70935	0.001;0.004;0.001;0.971	T	0.54146	-0.8337	10	0.09590	T	0.72	.	19.9975	0.97389	0.0:0.0:1.0:0.0	.	587;131;604;14	Q9H2E6;Q96SM8;Q9H2E6-2;B3KU01	SEM6A_HUMAN;.;.;.	S	587;604;14;587	ENSP00000345512:T587S;ENSP00000257414:T604S;ENSP00000422997:T14S;ENSP00000424388:T587S	ENSP00000257414:T604S	T	-	2	0	SEMA6A	115831312	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.072000	0.64389	2.827000	0.97445	0.650000	0.86243	ACC		0.522	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		15	33	15	33
GABRA6	2559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	161128598	161128598	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr5:161128598C>T	ENST00000274545.5	+	9	1614	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	GABRA6_ENST00000523217.1_Missense_Mutation_p.A384V			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	394					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTCACGAGAGCGCCCATCTTA	0.473										TCGA Ovarian(5;0.080)																																						0													111.0	106.0	108.0					5																	161128598		2203	4300	6503	SO:0001583	missense	2559				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1181C>T	5.37:g.161128598C>T	ENSP00000274545:p.Ala394Val		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	0.185	-1.058849	0.01950	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.83914	-1.78;-1.78	5.16	-0.203	0.13204	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.119710	0.06693	N	0.770002	T	0.62744	0.2453	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47182	-0.9137	10	0.30078	T	0.28	.	2.5722	0.04798	0.3645:0.3806:0.1184:0.1366	.	394	Q16445	GBRA6_HUMAN	V	394;384	ENSP00000274545:A394V;ENSP00000430527:A384V	ENSP00000274545:A394V	A	+	2	0	GABRA6	161061176	0.001000	0.12720	0.026000	0.17262	0.022000	0.10575	-0.310000	0.08135	-0.032000	0.13758	0.655000	0.94253	GCG		0.473	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			19	62	19	62
ABHD16A	7920	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	31668779	31668779	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:31668779G>A	ENST00000395952.3	-	4	445	c.283C>T	c.(283-285)Ccg>Tcg	p.P95S	ABHD16A_ENST00000538874.1_5'UTR|ABHD16A_ENST00000375842.4_5'UTR|MIR4646_ENST00000580775.1_RNA|ABHD16A_ENST00000440843.2_Missense_Mutation_p.P62S|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	95						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						TGAGAAAACGGCACCACTTTG	0.537																																																0													104.0	90.0	95.0					6																	31668779		2203	4300	6503	SO:0001583	missense	7920			AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.283C>T	6.37:g.31668779G>A	ENSP00000379282:p.Pro95Ser		A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP	ENST00000395952.3	37	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899828	0.52227	.	.	ENSG00000204427	ENST00000395952;ENST00000440843	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	L	0.46157	1.445	0.80722	D	1	D;P	0.89917	1.0;0.793	D;B	0.83275	0.996;0.272	T	0.52675	-0.8544	9	0.16420	T	0.52	-17.6992	16.904	0.86120	0.0:0.0:1.0:0.0	.	62;95	B7Z4R6;O95870	.;ABHGA_HUMAN	S	95;62	.	ENSP00000379282:P95S	P	-	1	0	ABHD16A	31776758	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	5.773000	0.68898	2.664000	0.90586	0.491000	0.48974	CCG		0.537	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			17	79	17	79
ZNF318	24149	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	43310590	43310590	+	Missense_Mutation	SNP	G	G	A	rs147313268		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:43310590G>A	ENST00000361428.2	-	7	3177	c.3100C>T	c.(3100-3102)Cgt>Tgt	p.R1034C	ZNF318_ENST00000318149.3_Missense_Mutation_p.R1034C	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1034				RT -> CI (in Ref. 1; AAD47387/AAD17298). {ECO:0000305}.	meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCTTAGTACGAAACTTCTCA	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		17354	0.0		0.001	False		,,,				2504	0.0															0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	74.0	72.0		3100	-0.5	0.0	6	dbSNP_134	72	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF318	NM_014345.2	180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	1034/2280	43310590	3,13003	2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3100C>T	6.37:g.43310590G>A	ENSP00000354964:p.Arg1034Cys		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	8.640	0.895673	0.17686	2.27E-4	2.33E-4	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.32988	1.43;2.65	5.51	-0.507	0.11985	.	1.685180	0.02824	N	0.125882	T	0.04770	0.0129	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.23297	-1.0192	10	0.37606	T	0.19	15.5149	1.0506	0.01579	0.344:0.1049:0.3346:0.2165	.	1034	Q5VUA4	ZN318_HUMAN	C	1034	ENSP00000323032:R1034C;ENSP00000354964:R1034C	ENSP00000323032:R1034C	R	-	1	0	ZNF318	43418568	0.000000	0.05858	0.000000	0.03702	0.933000	0.57130	0.049000	0.14099	-0.295000	0.08960	0.557000	0.71058	CGT		0.433	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		6	38	6	38
PCMT1	5110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	150111138	150111138	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:150111138A>G	ENST00000367380.5	+	4	448	c.241A>G	c.(241-243)Aaa>Gaa	p.K81E	PCMT1_ENST00000367384.2_Missense_Mutation_p.K139E|PCMT1_ENST00000544496.1_Missense_Mutation_p.K46E|PCMT1_ENST00000464889.1_Missense_Mutation_p.K139E|PCMT1_ENST00000367378.1_Missense_Mutation_p.K139E	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase	81					protein methylation (GO:0006479)|protein repair (GO:0030091)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		TGAAGGAGCTAAAGCTCTTGA	0.378																																																0													151.0	147.0	148.0					6																	150111138		2203	4300	6503	SO:0001583	missense	5110				CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	2.1.1.77		8728	protein-coding gene	gene with protein product		176851				1478665, 10343128	Standard	NM_005389		Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000367380.5:c.241A>G	6.37:g.150111138A>G	ENSP00000356350:p.Lys81Glu		A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Missense_Mutation	SNP	ENST00000367380.5	37		.	.	.	.	.	.	.	.	.	.	A	27.6	4.847460	0.91277	.	.	ENSG00000120265	ENST00000367384;ENST00000367378;ENST00000464889;ENST00000367380;ENST00000544496;ENST00000495487	T;T;T;T;T;T	0.48836	0.83;0.83;0.83;0.83;0.8;1.87	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.60945	0.2308	M	0.89287	3.02	0.80722	D	1	P;P;P	0.46912	0.738;0.886;0.808	P;P;P	0.52031	0.574;0.688;0.623	T	0.69785	-0.5051	10	0.72032	D	0.01	-15.3229	16.5724	0.84622	1.0:0.0:0.0:0.0	.	46;81;81	B7Z972;P22061-2;P22061	.;.;PIMT_HUMAN	E	139;139;139;81;46;50	ENSP00000356354:K139E;ENSP00000356348:K139E;ENSP00000420813:K139E;ENSP00000356350:K81E;ENSP00000438247:K46E;ENSP00000418881:K50E	ENSP00000356348:K139E	K	+	1	0	PCMT1	150152831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.812000	0.69194	2.313000	0.78055	0.455000	0.32223	AAA		0.378	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				58	105	58	105
SUGCT	79783	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	40899974	40899974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr7:40899974G>A	ENST00000335693.4	+	14	1257	c.1234G>A	c.(1234-1236)Ggg>Agg	p.G412R	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000309930.5_Missense_Mutation_p.G438R|C7orf10_ENST00000401647.2_Missense_Mutation_p.G364R	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		412					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CCCGCTGCTCGGGCAGCACAC	0.567																																																0													99.0	110.0	106.0					7																	40899974		2104	4227	6331	SO:0001583	missense	0																														ENST00000335693.4:c.1234G>A	7.37:g.40899974G>A	ENSP00000338475:p.Gly412Arg		A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637058	0.87760	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.96396	-4.0;-1.11;-1.11	5.51	5.51	0.81932	CoA-transferase family III domain (1);	0.275863	0.34484	N	0.003935	D	0.98689	0.9560	M	0.93594	3.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.997	D	0.99593	1.0976	10	0.87932	D	0	-10.9205	18.9884	0.92782	0.0:0.0:1.0:0.0	.	364;412;401	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	R	438;364;412	ENSP00000312054:G438R;ENSP00000385222:G364R;ENSP00000338475:G412R	ENSP00000312054:G438R	G	+	1	0	C7orf10	40866499	1.000000	0.71417	0.988000	0.46212	0.858000	0.48976	6.455000	0.73497	2.575000	0.86900	0.655000	0.94253	GGG		0.567	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			40	179	40	179
MUC17	140453	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	100696423	100696423	+	Silent	SNP	G	G	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr7:100696423G>C	ENST00000306151.4	+	10	13324	c.13260G>C	c.(13258-13260)gtG>gtC	p.V4420V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4420					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGAGAGAGGTGAAACGGTGAG	0.567																																																0													76.0	60.0	66.0					7																	100696423		2203	4300	6503	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13260G>C	7.37:g.100696423G>C			O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.567	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	29	8	29
MYOM2	9172	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	2040226	2040226	+	Silent	SNP	G	G	A	rs376971771		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr8:2040226G>A	ENST00000262113.4	+	16	2022	c.1881G>A	c.(1879-1881)tcG>tcA	p.S627S	MYOM2_ENST00000523438.1_Silent_p.S52S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	627	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCAAGACGTCGGTGGTGGTGC	0.577																																																0								G		0,4406		0,0,2203	194.0	176.0	182.0		1881	-11.4	0.0	8		182	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYOM2	NM_003970.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		627/1466	2040226	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1881G>A	8.37:g.2040226G>A			Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																				0.577	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		16	212	16	212
TEX11	56159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	70073157	70073157	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:70073157C>A	ENST00000395889.2	-	7	546	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	TEX11_ENST00000344304.3_Nonsense_Mutation_p.E131*|TEX11_ENST00000374333.2_Nonsense_Mutation_p.E116*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	131					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)					TCCAACCATTCTTTTCCTATT	0.343																																																0													62.0	55.0	57.0					X																	70073157		2203	4299	6502	SO:0001587	stop_gained	56159			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.391G>T	X.37:g.70073157C>A	ENSP00000379226:p.Glu131*		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Nonsense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	c	15.51	2.855052	0.51376	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	.	.	.	4.67	2.88	0.33553	.	0.610172	0.16556	N	0.209274	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.5313	7.6777	0.28494	0.0:0.743:0.1611:0.0959	.	.	.	.	X	116;131;131	.	.	E	-	1	0	TEX11	69989882	0.908000	0.30866	0.120000	0.21714	0.001000	0.01503	1.553000	0.36255	0.504000	0.28082	-0.208000	0.12717	GAA		0.343	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			17	49	17	49
ATRX	546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	76813014	76813014	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:76813014C>A	ENST00000373344.5	-	30	6821	c.6607G>T	c.(6607-6609)Gag>Tag	p.E2203*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.E2165*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2203	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCAGTAAGCTCATTCATAGTA	0.393			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											152.0	141.0	145.0					X																	76813014		2203	4296	6499	SO:0001587	stop_gained	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6607G>T	X.37:g.76813014C>A	ENSP00000362441:p.Glu2203*		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	49	15.586796	0.99838	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-12.4908	18.5298	0.90987	0.0:1.0:0.0:0.0	.	.	.	.	X	2203;2165	.	ENSP00000362441:E2203X	E	-	1	0	ATRX	76699670	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.319000	0.78375	0.594000	0.82650	GAG		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		50	69	50	69
ACSM1	116285	broad.mit.edu;ucsc.edu	37	16	20648161	20648161	+	Splice_Site	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:20648161A>G	ENST00000307493.4	-	9	1266	c.1199T>C	c.(1198-1200)gTc>gCc	p.V400A	ACSM1_ENST00000520010.1_Splice_Site_p.V400A|ACSM1_ENST00000219151.4_Missense_Mutation_p.V51A	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	400					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTCATCAATGACCTGTAGCAA	0.527																																																0													158.0	111.0	127.0					16																	20648161		2201	4300	6501	SO:0001630	splice_region_variant	116285			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1198-1T>C	16.37:g.20648161A>G			Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	a	11.84	1.758120	0.31137	.	.	ENSG00000166743	ENST00000307493;ENST00000219151;ENST00000520010	T;T;T	0.53640	0.61;0.61;0.61	4.59	4.59	0.56863	AMP-dependent synthetase/ligase (1);	0.384517	0.22119	N	0.064371	T	0.46908	0.1417	L	0.46947	1.48	0.29139	N	0.879166	B	0.33000	0.393	B	0.40256	0.324	T	0.54118	-0.8341	10	0.87932	D	0	.	11.8655	0.52490	1.0:0.0:0.0:0.0	.	400	Q08AH1	ACSM1_HUMAN	A	400;51;400	ENSP00000301956:V400A;ENSP00000219151:V51A;ENSP00000428047:V400A	ENSP00000219151:V51A	V	-	2	0	ACSM1	20555662	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	4.500000	0.60387	2.056000	0.61249	0.416000	0.27883	GTC		0.527	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956	Missense_Mutation	22	48	22	48
UGT2B11	10720	broad.mit.edu;ucsc.edu	37	4	70080096	70080096	+	Silent	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr4:70080096G>A	ENST00000446444.1	-	1	353	c.345C>T	c.(343-345)atC>atT	p.I115I	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	115					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATTCCCACAGGATTTCTTGTT	0.299																																																0													30.0	36.0	34.0					4																	70080096		2144	4269	6413	SO:0001819	synonymous_variant	10720			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.345C>T	4.37:g.70080096G>A			Q3KNV9	Silent	SNP	ENST00000446444.1	37	CCDS3527.1																																																																																				0.299	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		7	25	7	25
CEP68	23177	broad.mit.edu;ucsc.edu	37	2	65296821	65296821	+	Silent	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:65296821A>G	ENST00000377990.2	+	2	446	c.243A>G	c.(241-243)ccA>ccG	p.P81P	CEP68_ENST00000546106.1_Silent_p.P81P|RAB1A_ENST00000494188.1_5'Flank|CEP68_ENST00000537589.1_Intron|CEP68_ENST00000260569.4_Silent_p.P81P	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	81					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCCACCAGCCACAGGCCAGTG	0.632																																																0													37.0	42.0	40.0					2																	65296821		2203	4300	6503	SO:0001819	synonymous_variant	23177			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.243A>G	2.37:g.65296821A>G			B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	37	CCDS1880.2																																																																																				0.632	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		11	60	11	60
ERC1	23085	broad.mit.edu;ucsc.edu	37	12	1219448	1219448	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:1219448G>A	ENST00000397203.2	+	5	1658	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	ERC1_ENST00000543086.3_Missense_Mutation_p.E418K|ERC1_ENST00000589028.1_Missense_Mutation_p.E418K|ERC1_ENST00000546231.2_Missense_Mutation_p.E418K|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000355446.5_Missense_Mutation_p.E418K|ERC1_ENST00000360905.4_Missense_Mutation_p.E418K			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	418					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAGTACTGAGGAAAGGGAAGA	0.388																																																0													114.0	116.0	116.0					12																	1219448		2203	4300	6503	SO:0001583	missense	23085			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1252G>A	12.37:g.1219448G>A	ENSP00000380386:p.Glu418Lys		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	35	5.535756	0.96460	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.93	5.93	0.95920	.	0.195954	0.53938	D	0.000054	T	0.65176	0.2666	L	0.54323	1.7	0.80722	D	1	B;B;D;D;B	0.76494	0.065;0.065;0.999;0.992;0.418	B;B;D;D;B	0.80764	0.044;0.049;0.994;0.944;0.377	T	0.54675	-0.8258	10	0.21540	T	0.41	-11.1144	20.3938	0.98981	0.0:0.0:1.0:0.0	.	194;55;418;418;418	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	K	418;418;418;418;418;418;418;418;418;418;194;55	ENSP00000340054:E418K;ENSP00000380386:E418K;ENSP00000438546:E418K;ENSP00000445336:E418K;ENSP00000442739:E418K;ENSP00000347621:E418K;ENSP00000354158:E418K;ENSP00000410064:E418K	ENSP00000340054:E418K	E	+	1	0	ERC1	1089709	1.000000	0.71417	0.998000	0.56505	0.873000	0.50193	9.823000	0.99369	2.831000	0.97527	0.585000	0.79938	GAA		0.388	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		6	61	6	61
ZACN	353174	broad.mit.edu;hgsc.bcm.edu	37	17	74076491	74076492	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr17:74076491_74076492delCT	ENST00000334586.5	+	5	613_614	c.530_531delCT	c.(529-531)gctfs	p.A177fs	ZACN_ENST00000392503.2_Intron|EXOC7_ENST00000591724.1_5'Flank	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	177					ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						AGCTTCTACGCTCTCAGCAACA	0.644																																																0																																										SO:0001589	frameshift_variant	353174			AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.530_531delCT	17.37:g.74076493_74076494delCT	ENSP00000334854:p.Ala177fs		Q2TB29|Q6ZWK3|Q86YW4	Frame_Shift_Del	DEL	ENST00000334586.5	37	CCDS11740.2																																																																																				0.644	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		60	93	60	93
