#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_Algorithm	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Confidence	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NTotCov	i_NVarCov	i_NVarRat	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TVarRat	i_Transcript_Id	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_dbSNP_AF	i_dbSNP_PopFreq	i_dbSNP_Strength	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
HMCN1	83872	hgsc.bcm.edu	37	1	186114982	186114982	+	Silent	SNP	G	G	T			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr1:186114982G>T	ENST00000271588.4	+	93	14764	c.14535G>T	c.(14533-14535)gtG>gtT	p.V4845V	HMCN1_ENST00000367492.2_Silent_p.V4845V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4845	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACCATCCTGTGCCAGTTAAAG	0.547																																					p.V4845V		Atlas-SNP	.											.	HMCN1	797	.	0			c.G14535T						PASS	.						82.0	71.0	75.0					1																	186114982		2203	4300	6503	SO:0001819	synonymous_variant	83872	exon93			TCCTGTGCCAGTT	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14535G>T	chr1.hg19:g.186114982G>T		112.0	0.0	.		88.0	63.0	.	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	hg19	CCDS30956.1																																																																																			.	.	.	none		0.547	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
CCDC74A	90557	hgsc.bcm.edu	37	2	132289289	132289289	+	Silent	SNP	C	C	T			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr2:132289289C>T	ENST00000295171.6	+	4	735	c.597C>T	c.(595-597)gaC>gaT	p.D199D	CCDC74A_ENST00000467992.2_Silent_p.D301D|CCDC74A_ENST00000409856.3_Silent_p.D133D	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	199										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAAAAGCTGACGTCTCCCAGA	0.587																																					p.D241D		Atlas-SNP	.											.	CCDC74A	44	.	0			c.C723T						PASS	.						54.0	94.0	81.0					2																	132289289		1850	4189	6039	SO:0001819	synonymous_variant	90557	exon4			AGCTGACGTCTCC		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.597C>T	chr2.hg19:g.132289289C>T		113.0	0.0	.		69.0	42.0	.	NM_001258304	Q6P4I5	Silent	SNP	ENST00000295171.6	hg19	CCDS2167.1																																																																																			.	.	.	none		0.587	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770	
SEL1L3	23231	hgsc.bcm.edu	37	4	25834646	25834646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr4:25834646G>A	ENST00000399878.3	-	5	1191	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	SEL1L3_ENST00000502949.1_Nonsense_Mutation_p.R204*|SEL1L3_ENST00000264868.5_Nonsense_Mutation_p.R322*|SEL1L3_ENST00000513364.1_5'Flank	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	357						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATATCCAGTCGAAACCACTCC	0.393																																					p.R357X		Atlas-SNP	.											.	SEL1L3	62	.	0			c.C1069T						PASS	.						106.0	105.0	106.0					4																	25834646		1926	4139	6065	SO:0001587	stop_gained	23231	exon5			CCAGTCGAAACCA	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1069C>T	chr4.hg19:g.25834646G>A	ENSP00000382767:p.Arg357*	51.0	0.0	.		91.0	39.0	.	NM_015187	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Nonsense_Mutation	SNP	ENST00000399878.3	hg19	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	G	36	5.924911	0.97110	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	.	.	.	6.03	3.32	0.38043	.	0.057213	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4793	7.9475	0.29995	0.0738:0.0:0.6407:0.2855	.	.	.	.	X	357;322;204	.	ENSP00000264868:R322X	R	-	1	2	SEL1L3	25443744	1.000000	0.71417	0.635000	0.29338	0.929000	0.56500	2.981000	0.49329	0.404000	0.25506	0.655000	0.94253	CGA	.	.	.	none		0.393	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187	
C4orf29	80167	hgsc.bcm.edu	37	4	128904113	128904113	+	Start_Codon_SNP	SNP	G	G	A			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr4:128904113G>A	ENST00000444616.1	+	2	250	c.3G>A	c.(1-3)atG>atA	p.M1I	C4orf29_ENST00000388795.5_5'UTR|C4orf29_ENST00000398965.1_Start_Codon_SNP_p.M1I			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	1						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGCTACTGATGGGTGTGAGCA	0.338																																					p.M1I		Atlas-SNP	.											.	C4orf29	58	.	0			c.G3A						PASS	.						66.0	56.0	59.0					4																	128904113		1795	4055	5850	SO:0001582	initiator_codon_variant	80167	exon2			ACTGATGGGTGTG	AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.3G>A	chr4.hg19:g.128904113G>A	ENSP00000397229:p.Met1Ile	60.0	0.0	.		110.0	43.0	.	NM_001039717	A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	ENST00000444616.1	hg19		.	.	.	.	.	.	.	.	.	.	G	20.2	3.944358	0.73672	.	.	ENSG00000164074	ENST00000454347;ENST00000398965;ENST00000444616;ENST00000513371	.	.	.	5.42	5.42	0.78866	.	0.076087	0.85682	D	0.000000	T	0.78947	0.4364	.	.	.	0.80722	D	1	D	0.54964	0.969	D	0.63381	0.914	T	0.81306	-0.0992	8	0.72032	D	0.01	-6.3254	17.9979	0.89189	0.0:0.0:1.0:0.0	.	1	Q0P651	CD029_HUMAN	I	1	.	ENSP00000381937:M1I	M	+	3	0	C4orf29	129123563	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.143000	0.89621	2.552000	0.86080	0.462000	0.41574	ATG	.	.	.	none		0.338	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1	NM_001039717	Missense_Mutation
GABRB2	2561	hgsc.bcm.edu	37	5	160973398	160973398	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr5:160973398C>T	ENST00000393959.1	-	2	98	c.99G>A	c.(97-99)atG>atA	p.M33I	GABRB2_ENST00000520240.1_Missense_Mutation_p.M33I|GABRB2_ENST00000523730.1_5'Flank|GABRB2_ENST00000353437.6_Missense_Mutation_p.M33I|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000274547.2_Missense_Mutation_p.M33I			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	33					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TAACCAGCGACATATTACTAG	0.433																																					p.M33I		Atlas-SNP	.											.	GABRB2	161	.	0			c.G99A						PASS	.						84.0	77.0	80.0					5																	160973398		2203	4300	6503	SO:0001583	missense	2561	exon3			CAGCGACATATTA		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.99G>A	chr5.hg19:g.160973398C>T	ENSP00000377531:p.Met33Ile	104.0	0.0	.		137.0	19.0	.	NM_021911	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	hg19	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329800	0.60743	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240	T;T;T;T	0.79247	-1.24;-1.24;-1.25;-1.25	5.63	5.63	0.86233	.	0.037933	0.85682	D	0.000000	T	0.66665	0.2812	N	0.19112	0.55	0.80722	D	1	B;P;B	0.37985	0.007;0.613;0.003	B;B;B	0.38264	0.013;0.269;0.03	T	0.63756	-0.6565	10	0.10902	T	0.67	.	19.6807	0.95962	0.0:1.0:0.0:0.0	.	33;33;33	B7Z4P0;P47870;P47870-1	.;GBRB2_HUMAN;.	I	33	ENSP00000377531:M33I;ENSP00000274547:M33I;ENSP00000274546:M33I;ENSP00000429320:M33I	ENSP00000274547:M33I	M	-	3	0	GABRB2	160905976	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.726000	0.84824	2.653000	0.90120	0.650000	0.86243	ATG	.	.	.	none		0.433	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1		
FAM46A	55603	hgsc.bcm.edu	37	6	82461742	82461742	+	Silent	SNP	G	G	A			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr6:82461742G>A	ENST00000320172.6	-	2	431	c.117C>T	c.(115-117)ggC>ggT	p.G39G	FAM46A_ENST00000369756.3_Silent_p.G120G|FAM46A_ENST00000369754.3_Silent_p.G58G	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	39			Missing. {ECO:0000269|PubMed:12054608, ECO:0000269|PubMed:16545789}.		regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		cgaagtcgccgccgccgaagt	0.667																																					p.G39G		Atlas-SNP	.											.	FAM46A	37	.	0			c.C117T						PASS	.						7.0	8.0	8.0					6																	82461742		1601	3424	5025	SO:0001819	synonymous_variant	55603	exon2			GTCGCCGCCGCCG	AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"""chromosome 6 open reading frame 37"""	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.117C>T	chr6.hg19:g.82461742G>A		38.0	0.0	.		30.0	5.0	.	NM_017633	A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Silent	SNP	ENST00000320172.6	hg19	CCDS34489.1																																																																																			.	.	.	none		0.667	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1		
GRM3	2913	hgsc.bcm.edu	37	7	86394802	86394802	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr7:86394802G>A	ENST00000361669.2	+	2	1440	c.341G>A	c.(340-342)aGg>aAg	p.R114K	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.R112K|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.R114K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	114					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GAGTTTGTCAGGGCATCTTTG	0.428																																					p.R114K	GBM(52;969 1098 3139 52280)	Atlas-SNP	.											.	GRM3	237	.	0			c.G341A						PASS	.						182.0	166.0	172.0					7																	86394802		2203	4300	6503	SO:0001583	missense	2913	exon2			TTGTCAGGGCATC		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.341G>A	chr7.hg19:g.86394802G>A	ENSP00000355316:p.Arg114Lys	99.0	0.0	.		157.0	15.0	.	NM_000840	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	hg19	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454649	0.63290	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720	T;T;T	0.52754	0.65;0.65;0.65	5.24	5.24	0.73138	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	L	0.53617	1.68	0.80722	D	1	B;B	0.22146	0.065;0.026	B;B	0.28784	0.067;0.094	T	0.41538	-0.9503	10	0.41790	T	0.15	.	17.9854	0.89154	0.0:0.0:1.0:0.0	.	114;114	G5E9K2;Q14832	.;GRM3_HUMAN	K	114;114;112	ENSP00000355316:R114K;ENSP00000398767:R114K;ENSP00000378209:R112K	ENSP00000355316:R114K	R	+	2	0	GRM3	86232738	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.580000	0.74040	2.732000	0.93576	0.655000	0.94253	AGG	.	.	.	none		0.428	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		
EPHB4	2050	hgsc.bcm.edu	37	7	100410509	100410509	+	Nonsense_Mutation	SNP	C	C	A			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr7:100410509C>A	ENST00000358173.3	-	12	2446	c.1978G>T	c.(1978-1980)Gag>Tag	p.E660*	EPHB4_ENST00000477446.1_5'Flank|EPHB4_ENST00000360620.3_Nonsense_Mutation_p.E660*	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	660	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCAGAAACTCACGCCGCTGC	0.627																																					p.E660X	GBM(200;2113 3072 25865 52728)	Atlas-SNP	.											.	EPHB4	106	.	0			c.G1978T						PASS	.						103.0	102.0	103.0					7																	100410509		2203	4300	6503	SO:0001587	stop_gained	2050	exon12			GAAACTCACGCCG	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1978G>T	chr7.hg19:g.100410509C>A	ENSP00000350896:p.Glu660*	74.0	0.0	.		75.0	34.0	.	NM_004444	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Nonsense_Mutation	SNP	ENST00000358173.3	hg19	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	41	9.119006	0.99071	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	.	.	.	4.79	4.79	0.61399	.	0.000000	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.6721	0.77286	0.0:1.0:0.0:0.0	.	.	.	.	X	660	.	ENSP00000350896:E660X	E	-	1	0	EPHB4	100248445	1.000000	0.71417	0.955000	0.39395	0.173000	0.22820	7.705000	0.84606	2.368000	0.80403	0.650000	0.86243	GAG	.	.	.	none		0.627	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444	
SLC4A2	6522	hgsc.bcm.edu	37	7	150771197	150771197	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr7:150771197G>A	ENST00000485713.1	+	17	3647	c.2607G>A	c.(2605-2607)atG>atA	p.M869I	SLC4A2_ENST00000461735.1_Missense_Mutation_p.M855I|SLC4A2_ENST00000413384.2_Missense_Mutation_p.M869I|SLC4A2_ENST00000310317.5_Missense_Mutation_p.M787I|SLC4A2_ENST00000392826.2_Missense_Mutation_p.M860I|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	869	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGAGAACATGACATGGGCCG	0.687																																					p.M869I		Atlas-SNP	.											.	SLC4A2	98	.	0			c.G2607A						PASS	.						34.0	40.0	38.0					7																	150771197		2202	4300	6502	SO:0001583	missense	6522	exon17			GAACATGACATGG		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2607G>A	chr7.hg19:g.150771197G>A	ENSP00000419412:p.Met869Ile	186.0	0.0	.		213.0	71.0	.	NM_003040	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	hg19	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	1.317	-0.600662	0.03744	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	5.54	-1.43	0.08884	Bicarbonate transporter, C-terminal (1);	2.629030	0.00927	N	0.002677	T	0.59252	0.2180	N	0.08118	0	0.19300	N	0.999979	B;B;B	0.11235	0.0;0.001;0.004	B;B;B	0.06405	0.0;0.001;0.002	T	0.49447	-0.8939	10	0.37606	T	0.19	.	6.7854	0.23670	0.422:0.2891:0.2888:0.0	.	860;855;869	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	I	869;869;787;860;855	ENSP00000419412:M869I;ENSP00000405600:M869I;ENSP00000311402:M787I;ENSP00000376571:M860I;ENSP00000419164:M855I	ENSP00000311402:M787I	M	+	3	0	SLC4A2	150402130	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-0.508000	0.06344	-0.176000	0.10707	-0.258000	0.10820	ATG	.	.	.	none		0.687	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040	
MYOM2	9172	hgsc.bcm.edu	37	8	2037960	2037960	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr8:2037960G>T	ENST00000262113.4	+	15	1915	c.1774G>T	c.(1774-1776)Ggc>Tgc	p.G592C	MYOM2_ENST00000523438.1_Missense_Mutation_p.G17C	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	592	Fibronectin type-III 2. {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)		AAACCGGCATGGCCTGAGCGA	0.572																																					p.G592C		Atlas-SNP	.											.	MYOM2	251	.	0			c.G1774T						PASS	.						134.0	104.0	114.0					8																	2037960		2203	4300	6503	SO:0001583	missense	9172	exon15			CGGCATGGCCTGA		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.1774G>T	chr8.hg19:g.2037960G>T	ENSP00000262113:p.Gly592Cys	63.0	0.0	.		65.0	33.0	.	NM_003970	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	hg19	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716094	0.68844	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.65178	-0.14;-0.14	5.6	5.6	0.85130	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88607	0.6482	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92947	0.6377	10	0.87932	D	0	.	19.6185	0.95645	0.0:0.0:1.0:0.0	.	592	P54296	MYOM2_HUMAN	C	592;17	ENSP00000262113:G592C;ENSP00000428396:G17C	ENSP00000262113:G592C	G	+	1	0	MYOM2	2025367	1.000000	0.71417	0.982000	0.44146	0.074000	0.17049	9.480000	0.97931	2.641000	0.89580	0.462000	0.41574	GGC	.	.	.	none		0.572	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
PRUNE2	158471	hgsc.bcm.edu	37	9	79465477	79465477	+	Silent	SNP	G	G	A			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr9:79465477G>A	ENST00000376718.3	-	3	369	c.246C>T	c.(244-246)tcC>tcT	p.S82S	PRUNE2_ENST00000376713.3_Silent_p.S82S|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	82					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGAATGATTCGGAAATATTTA	0.428																																					p.S82S		Atlas-SNP	.											.	PRUNE2	331	.	0			c.C246T						PASS	.						157.0	162.0	160.0					9																	79465477		2203	4300	6503	SO:0001819	synonymous_variant	158471	exon3			TGATTCGGAAATA	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.246C>T	chr9.hg19:g.79465477G>A		151.0	0.0	.		196.0	76.0	.	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	hg19	CCDS47982.1																																																																																			.	.	.	none		0.428	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
TRIM22	10346	hgsc.bcm.edu	37	11	5730402	5730402	+	Missense_Mutation	SNP	G	G	A	rs199987600		TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr11:5730402G>A	ENST00000379965.3	+	8	1298	c.1021G>A	c.(1021-1023)Gct>Act	p.A341T	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	341	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TGATTTTTCTGCTTTTGGTGT	0.433																																					p.A341T	GBM(104;491 2336 5222)	Atlas-SNP	.											TRIM22,NS,carcinoma,0,1	TRIM22	66	.	0			c.G1021A						PASS	.						156.0	143.0	147.0					11																	5730402		1861	4103	5964	SO:0001583	missense	10346	exon8			TTTTCTGCTTTTG	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1021G>A	chr11.hg19:g.5730402G>A	ENSP00000369299:p.Ala341Thr	126.0	0.0	.		127.0	44.0	.	NM_006074	Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	hg19	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	G	7.371	0.626808	0.14257	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.04862	3.54	2.99	-0.531	0.11894	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.02929	0.0087	N	0.13098	0.295	0.09310	N	1	B;B;B	0.23377	0.084;0.001;0.001	B;B;B	0.17722	0.019;0.007;0.004	T	0.46665	-0.9175	9	0.22109	T	0.4	.	2.2684	0.04085	0.3013:0.0:0.4546:0.2442	.	263;337;341	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	T	341;152;263	ENSP00000369299:A341T	ENSP00000369299:A341T	A	+	1	0	TRIM22	5686978	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-1.073000	0.03430	0.109000	0.17891	-0.384000	0.06662	GCT	.	G|0.999;A|0.001	0.001	weak		0.433	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074	
SMPD1	6609	hgsc.bcm.edu	37	11	6411970	6411970	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr11:6411970G>T	ENST00000342245.4	+	1	310	c.142G>T	c.(142-144)Gct>Tct	p.A48S	SMPD1_ENST00000527275.1_Missense_Mutation_p.A48S|SMPD1_ENST00000356761.2_Missense_Mutation_p.A48S|SMPD1_ENST00000299397.3_Missense_Mutation_p.A48S|SMPD1_ENST00000533196.1_3'UTR	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	47					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	gctggcgctggcTCTGTCTGA	0.697																																					p.A48S		Atlas-SNP	.											.	SMPD1	108	.	0			c.G142T						PASS	.						24.0	27.0	26.0					11																	6411970		2201	4296	6497	SO:0001583	missense	6609	exon1			GCGCTGGCTCTGT	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.142G>T	chr11.hg19:g.6411970G>T	ENSP00000340409:p.Ala48Ser	90.0	0.0	.		119.0	6.0	.	NM_000543	A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	hg19	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521946	0.27211	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	T;T;T;T	0.10382	2.88;2.88;2.89;2.89	.	.	.	.	0.196334	0.29861	N	0.011014	T	0.07143	0.0181	L	0.40543	1.245	0.09310	N	1	B;P;P	0.40476	0.442;0.718;0.629	B;B;B	0.35607	0.11;0.206;0.163	T	0.24728	-1.0152	9	0.56958	D	0.05	-36.845	5.0357	0.14432	0.0:0.0:1.0:0.0	.	48;48;46	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	S	48	ENSP00000299397:A48S;ENSP00000349203:A48S;ENSP00000340409:A48S;ENSP00000435350:A48S	ENSP00000299397:A48S	A	+	1	0	SMPD1	6368546	0.045000	0.20229	0.241000	0.24154	0.101000	0.19017	0.462000	0.21956	-0.000000	0.14550	0.000000	0.15137	GCT	.	.	.	none		0.697	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543	
KMT2D	8085	hgsc.bcm.edu	37	12	49438022	49438022	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr12:49438022G>T	ENST00000301067.7	-	21	5148	c.5149C>A	c.(5149-5151)Cag>Aag	p.Q1717K		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1717					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACCTCCGCCTGTGCAGCAGGC	0.617											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q1717K		Atlas-SNP	.											.	MLL2	1173	.	0			c.C5149A						PASS	.						48.0	55.0	53.0					12																	49438022		2119	4237	6356	SO:0001583	missense	8085	exon21			CCGCCTGTGCAGC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5149C>A	chr12.hg19:g.49438022G>T	ENSP00000301067:p.Gln1717Lys	49.0	0.0	.	962	96.0	43.0	.	NM_003482	O14687	Missense_Mutation	SNP	ENST00000301067.7	hg19	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.070431	0.36566	.	.	ENSG00000167548	ENST00000301067	T	0.78707	-1.2	4.82	3.9	0.45041	.	0.000000	0.33457	N	0.004900	T	0.57533	0.2060	N	0.22421	0.69	0.24145	N	0.995719	B	0.34061	0.436	B	0.26202	0.067	T	0.55444	-0.8140	10	0.87932	D	0	.	4.7551	0.13080	0.1743:0.0:0.6471:0.1787	.	1717	O14686	MLL2_HUMAN	K	1717	ENSP00000301067:Q1717K	ENSP00000301067:Q1717K	Q	-	1	0	MLL2	47724289	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.428000	0.44749	2.498000	0.84270	0.563000	0.77884	CAG	.	.	.	none		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
GRASP	160622	hgsc.bcm.edu	37	12	52408635	52408635	+	Silent	SNP	C	C	T			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr12:52408635C>T	ENST00000293662.4	+	8	920	c.840C>T	c.(838-840)gcC>gcT	p.A280A	GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000380039.2_Silent_p.A137A|GRASP_ENST00000552049.1_Silent_p.A137A	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	280					protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGGGCGACGCCGACGACGCCG	0.821																																					p.A280A		Atlas-SNP	.											.	GRASP	23	.	0			c.C840T						PASS	.						1.0	1.0	1.0					12																	52408635		646	1615	2261	SO:0001819	synonymous_variant	160622	exon8			CGACGCCGACGAC	AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.840C>T	chr12.hg19:g.52408635C>T		7.0	0.0	.		10.0	6.0	.	NM_181711	Q6PIF8|Q7Z741	Silent	SNP	ENST00000293662.4	hg19	CCDS8817.1																																																																																			.	.	.	none		0.821	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404972.1		
GPR137C	283554	hgsc.bcm.edu	37	14	53101695	53101695	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr14:53101695G>T	ENST00000321662.6	+	7	1152	c.1152G>T	c.(1150-1152)atG>atT	p.M384I		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	384						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					ATGGCACCATGACTGGGTGTG	0.418																																					p.M384I		Atlas-SNP	.											.	GPR137C	24	.	0			c.G1152T						PASS	.						116.0	114.0	115.0					14																	53101695		1940	4138	6078	SO:0001583	missense	283554	exon7			CACCATGACTGGG	BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.1152G>T	chr14.hg19:g.53101695G>T	ENSP00000315106:p.Met384Ile	103.0	0.0	.		156.0	58.0	.	NM_001099652	Q86SM2	Missense_Mutation	SNP	ENST00000321662.6	hg19	CCDS45106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.724|1.724	-0.495942|-0.495942	0.04291|0.04291	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000542169|ENST00000321662	.|T	.|0.37584	.|1.19	5.92|5.92	2.35|2.35	0.29111|0.29111	.|.	.|0.114776	.|0.64402	.|N	.|0.000010	T|T	0.08268|0.08268	0.0206|0.0206	N|N	0.00413|0.00413	-1.525|-1.525	0.33382|0.33382	D|D	0.575044|0.575044	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.06405	.|0.001;0.002	T|T	0.10291|0.10291	-1.0636|-1.0636	5|10	.|0.21014	.|T	.|0.42	-19.4003|-19.4003	4.6484|4.6484	0.12584|0.12584	0.1073:0.1726:0.5872:0.133|0.1073:0.1726:0.5872:0.133	.|.	.|384;213	.|Q8N3F9;B3KW22	.|G137C_HUMAN;.	Y|I	354|384	.|ENSP00000315106:M384I	.|ENSP00000315106:M384I	D|M	+|+	1|3	0|0	GPR137C|GPR137C	52171445|52171445	0.974000|0.974000	0.33945|0.33945	0.993000|0.993000	0.49108|0.49108	0.780000|0.780000	0.44128|0.44128	0.995000|0.995000	0.29706|0.29706	1.393000|1.393000	0.46605|0.46605	0.655000|0.655000	0.94253|0.94253	GAC|ATG	.	.	.	none		0.418	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1	XM_290615	
DUOXA1	90527	hgsc.bcm.edu	37	15	45415103	45415103	+	Missense_Mutation	SNP	G	G	A	rs374411208		TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr15:45415103G>A	ENST00000560572.1	-	1	115	c.110C>T	c.(109-111)aCg>aTg	p.T37M	DUOXA1_ENST00000558422.1_Missense_Mutation_p.T37M|DUOXA1_ENST00000558996.1_Missense_Mutation_p.T37M|DUOXA1_ENST00000559014.1_Missense_Mutation_p.T37M|DUOXA1_ENST00000430224.2_Missense_Mutation_p.T37M|DUOXA1_ENST00000267803.4_Missense_Mutation_p.T37M	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	37					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GACGATGAACGTGGCCAGTGC	0.572																																					p.T37M		Atlas-SNP	.											.	DUOXA1	32	.	0			c.C110T						PASS	.	G	MET/THR	0,4396		0,0,2198	144.0	120.0	128.0		110	3.5	1.0	15		128	1,8595	1.2+/-3.3	0,1,4297	no	missense	DUOXA1	NM_144565.2	81	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	37/484	45415103	1,12991	2198	4298	6496	SO:0001583	missense	90527	exon4			ATGAACGTGGCCA	BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.110C>T	chr15.hg19:g.45415103G>A	ENSP00000454084:p.Thr37Met	142.0	0.0	.		174.0	75.0	.	NM_144565	Q8N6K9|Q96MI4	Missense_Mutation	SNP	ENST00000560572.1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.64	3.179690	0.57800	0.0	1.16E-4	ENSG00000140254	ENST00000267803;ENST00000430224	T;T	0.57595	0.39;0.39	5.4	3.54	0.40534	.	0.105523	0.64402	D	0.000004	T	0.67552	0.2905	M	0.68317	2.08	0.35847	D	0.826508	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.98;0.987;0.99;0.991	T	0.75436	-0.3318	10	0.87932	D	0	-20.3562	10.7497	0.46203	0.154:0.0:0.846:0.0	.	37;37;37;37	B5M0C0;B5M0B8;Q1HG43;A8K9Q6	.;.;DOXA1_HUMAN;.	M	37	ENSP00000267803:T37M;ENSP00000415512:T37M	ENSP00000267803:T37M	T	-	2	0	DUOXA1	43202395	0.978000	0.34361	0.998000	0.56505	0.535000	0.34838	1.451000	0.35145	0.863000	0.35553	0.655000	0.94253	ACG	.	.	.	weak		0.572	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000416242.1	NM_144565	
SLC13A5	284111	hgsc.bcm.edu	37	17	6594200	6594200	+	Silent	SNP	C	C	T	rs138802643		TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr17:6594200C>T	ENST00000433363.2	-	10	1568	c.1335G>A	c.(1333-1335)ccG>ccA	p.P445P	SLC13A5_ENST00000293800.6_Silent_p.P428P|SLC13A5_ENST00000573648.1_Silent_p.P445P|SLC13A5_ENST00000381074.4_Silent_p.P402P	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	445					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TGATGGCTGCCGGGGGCACTG	0.622																																					p.P445P		Atlas-SNP	.											.	SLC13A5	57	.	0			c.G1335A						PASS	.	C	,	1,4405	2.1+/-5.4	0,1,2202	181.0	160.0	167.0		1335,1335	-10.1	0.0	17	dbSNP_134	167	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC13A5	NM_001143838.1,NM_177550.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	445/523,445/569	6594200	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284111	exon10			GGCTGCCGGGGGC	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.1335G>A	chr17.hg19:g.6594200C>T		51.0	0.0	.		47.0	38.0	.	NM_001143838	B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	hg19	CCDS11079.1																																																																																			.	C|1.000;T|0.000	0.000	weak		0.622	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550	
TAC4	255061	hgsc.bcm.edu	37	17	47921450	47921450	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr17:47921450C>A	ENST00000334568.4	-	2	192	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W	TAC4_ENST00000326219.5_Missense_Mutation_p.G59W|TAC4_ENST00000352793.2_Missense_Mutation_p.G59W|TAC4_ENST00000398154.1_Missense_Mutation_p.G59W|RP11-304F15.3_ENST00000376609.1_RNA|TAC4_ENST00000436235.1_Missense_Mutation_p.G59W	NM_170685.2	NP_733786.2			tachykinin 4 (hemokinin)											breast(1)|large_intestine(1)|lung(3)	5						CCCATCAGCCCAAAGAACTGG	0.557																																					p.G65W		Atlas-SNP	.											.	TAC4	6	.	0			c.G193T						PASS	.						182.0	187.0	185.0					17																	47921450		1998	4184	6182	SO:0001583	missense	255061	exon2			TCAGCCCAAAGAA	AF521560	CCDS42357.1, CCDS42358.1, CCDS42359.1, CCDS42360.1, CCDS45727.1	17q21.33	2014-01-30			ENSG00000176358	ENSG00000176358		"""Endogenous ligands"""	16641	protein-coding gene	gene with protein product		607833				11062498, 12383518	Standard	NM_170685		Approved	HK-1, Pptc, PPT-C	uc002ipp.1	Q86UU9	OTTHUMG00000161830	ENST00000334568.4:c.193G>T	chr17.hg19:g.47921450C>A	ENSP00000334042:p.Gly65Trp	67.0	0.0	.		55.0	40.0	.	NM_170685		Missense_Mutation	SNP	ENST00000334568.4	hg19	CCDS42357.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847466	0.71603	.	.	ENSG00000176358	ENST00000352793;ENST00000334568;ENST00000398154;ENST00000436235;ENST00000326219	.	.	.	4.9	3.91	0.45181	Tachykinin/Neurokinin-like, conserved site (1);	0.286836	0.25366	N	0.031192	T	0.65375	0.2685	L	0.36672	1.1	0.38235	D	0.941162	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.999	T	0.70594	-0.4829	9	0.87932	D	0	-13.9808	11.3861	0.49787	0.0:0.8175:0.1825:0.0	.	59;59;59;59;65	Q86UU9-4;Q86UU9-2;Q86UU9-3;Q86UU9-5;Q86UU9	.;.;.;.;TKN4_HUMAN	W	59;65;59;59;59	.	ENSP00000325286:G59W	G	-	1	0	TAC4	45276449	0.997000	0.39634	0.999000	0.59377	0.986000	0.74619	1.991000	0.40727	1.398000	0.46701	0.650000	0.86243	GGG	.	.	.	none		0.557	TAC4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366198.1	NM_170685	
MEGF8	1954	hgsc.bcm.edu	37	19	42866746	42866746	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr19:42866746A>G	ENST00000251268.6	+	34	6055	c.6055A>G	c.(6055-6057)Aca>Gca	p.T2019A	MEGF8_ENST00000334370.4_Missense_Mutation_p.T1952A	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2019					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTTCAAGAGGACAGGTGAGCA	0.667																																					p.T2019A		Atlas-SNP	.											.	MEGF8	358	.	0			c.A6055G						PASS	.						56.0	56.0	56.0					19																	42866746		2202	4300	6502	SO:0001583	missense	1954	exon34			AAGAGGACAGGTG	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6055A>G	chr19.hg19:g.42866746A>G	ENSP00000251268:p.Thr2019Ala	38.0	0.0	.		43.0	11.0	.	NM_001271938	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	hg19		.	.	.	.	.	.	.	.	.	.	A	12.54	1.969158	0.34754	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21361	2.01;2.01	5.17	4.14	0.48551	.	0.000000	0.64402	D	0.000002	T	0.28665	0.0710	L	0.43152	1.355	0.80722	D	1	P;D	0.54964	0.944;0.969	B;P	0.56648	0.437;0.803	T	0.01363	-1.1374	10	0.27082	T	0.32	-8.6728	10.4224	0.44359	0.8534:0.0:0.0:0.1466	.	2019;1952	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	A	1952;2019	ENSP00000334219:T1952A;ENSP00000251268:T2019A	ENSP00000251268:T2019A	T	+	1	0	MEGF8	47558586	1.000000	0.71417	0.973000	0.42090	0.118000	0.20060	8.653000	0.91088	0.796000	0.33947	-0.490000	0.04691	ACA	.	.	.	none		0.667	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
KCNG1	3755	hgsc.bcm.edu	37	20	49626294	49626294	+	Silent	SNP	G	G	A			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr20:49626294G>A	ENST00000371571.4	-	2	867	c.582C>T	c.(580-582)cgC>cgT	p.R194R	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Silent_p.R194R|KCNG1_ENST00000506387.1_5'Flank	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	194					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCTCGCTGTCGCGGCCCTCGC	0.716																																					p.R194R		Atlas-SNP	.											.	KCNG1	86	.	0			c.C582T						PASS	.						18.0	20.0	19.0					20																	49626294		2199	4282	6481	SO:0001819	synonymous_variant	3755	exon2			GCTGTCGCGGCCC	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.582C>T	chr20.hg19:g.49626294G>A		35.0	0.0	.		53.0	15.0	.	NM_002237	A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	hg19	CCDS13436.1																																																																																			.	.	.	none		0.716	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237	
UBXN2B	137886	hgsc.bcm.edu	37	8	59343157	59343158	+	In_Frame_Ins	INS	-	-	AAG			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr8:59343157_59343158insAAG	ENST00000399598.2	+	3	390_391	c.268_269insAAG	c.(268-270)aaa>aAAGaa	p.91_92insE	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	91						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TGAACTTTTCAAAGAGGCAAGG	0.361																																					p.K90delinsKE		Atlas-Indel,Pindel	.											.	UBXN2B	36	.	0			c.268_269insAAG						PASS	.																																			SO:0001652	inframe_insertion	137886	exon3			.	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.269_271dupAAG	chr8.hg19:g.59343158_59343160dupAAG	ENSP00000382507:p.Glu91_Glu91dup	319.0	0.0	0		453.0	54.0	0.119205	NM_001077619	B3KWZ3	In_Frame_Ins	INS	ENST00000399598.2	hg19	CCDS43741.1																																																																																			.	.	.	none		0.361	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619	
TP53	7157	hgsc.bcm.edu	37	17	7577515	7577517	+	In_Frame_Del	DEL	TGA	TGA	-	rs587781433		TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr17:7577515_7577517delTGA	ENST00000269305.4	-	7	953_955	c.764_766delTCA	c.(763-768)atcaca>aca	p.I255del	TP53_ENST00000455263.2_In_Frame_Del_p.I255del|TP53_ENST00000420246.2_In_Frame_Del_p.I255del|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_In_Frame_Del_p.I255del|TP53_ENST00000359597.4_In_Frame_Del_p.I255del|TP53_ENST00000445888.2_In_Frame_Del_p.I255del	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	255	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I255S(10)|p.0?(8)|p.I255N(7)|p.I255del(7)|p.I255T(7)|p.T256A(3)|p.T256fs*89(3)|p.T256fs*8(2)|p.T256S(2)|p.I255I(2)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I255M(1)|p.T256fs*90(1)|p.T256P(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.T256fs*17(1)|p.I254_T256del(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)	TCTTCCAGTGTGATGATGGTGAG	0.586		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.255_256del	Pancreas(47;798 1329 9957 10801)	Atlas-Indel,Pindel	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53_ENST00000413465,NS,carcinoma,0,1	TP53	33396	.	62	Substitution - Missense(31)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(4)|Substitution - coding silent(2)|Unknown(1)	breast(15)|ovary(7)|pancreas(6)|central_nervous_system(5)|bone(5)|upper_aerodigestive_tract(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|oesophagus(3)|lung(3)|thyroid(1)|stomach(1)|liver(1)|endometrium(1)|skin(1)	c.765_767del						PASS	.																																			SO:0001651	inframe_deletion	7157	exon7	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	.	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.764_766delTCA	chr17.hg19:g.7577518_7577520delTGA	ENSP00000269305:p.Ile255del	88.0	0.0	0		70.0	18.0	0.257143	NM_001126112	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	ENST00000269305.4	hg19	CCDS11118.1																																																																																			.	.	.	none		0.586	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MCTP2	55784	hgsc.bcm.edu	37	15	95001475	95001477	+	Splice_Site	DEL	AGT	AGT	-			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	AGT	AGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr15:95001475_95001477delAGT	ENST00000357742.4	+	19	2360	c.2360delAGT	c.(2359-2361)aag>ag	p.K787del	MCTP2_ENST00000451018.3_Splice_Site_p.K732del	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	787					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGGATTAAGAAGTAAGTTCTAAA	0.399																																					p.787_787del		Atlas-Indel,Pindel	.											.	MCTP2	122	.	0			c.2359_2360del						PASS	.																																			SO:0001630	splice_region_variant	55784	exon19			.	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2360+1AGT>-	chr15.hg19:g.95001475_95001477delAGT		93.0	0.0	0		129.0	32.0	0.248062	NM_018349	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Frame_Shift_Del	DEL	ENST00000357742.4	hg19	CCDS32338.1																																																																																			.	.	.	none		0.399	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	In_Frame_Del
CORIN	10699	hgsc.bcm.edu	37	4	47809067	47809070	+	Intron	DEL	AAAG	AAAG	-			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	AAAG	AAAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr4:47809067_47809070delAAAG	ENST00000273857.4	-	2	63				CORIN_ENST00000502252.1_Intron|CORIN_ENST00000505909.1_Intron|CORIN_ENST00000504584.1_Intron	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase						female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CTCAAGACCTAAAGTAAAAGAGGA	0.402																																					.		Pindel	.											.	CORIN	154	.	0			.						PASS	.																																			SO:0001627	intron_variant	10699	.			.	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.64-3CTTT>-	chr4.hg19:g.47809067_47809070delAAAG		133.0	0.0	.		195.0	11.0	0.056	.	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Splice_Site	DEL	ENST00000273857.4	hg19	CCDS3477.1																																																																																			.	.	.	none		0.402	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		
