#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_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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	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_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_Start_position_hg18	i_TranscriptID	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
DRG2	1819	hgsc.bcm.edu	37	17	17991394	17991395	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr17:17991394_17991395insAA	ENST00000225729.3	+	1	195_196	c.57_58insAA	c.(58-60)aacfs	p.N20fs	DRG2_ENST00000583355.1_Frame_Shift_Ins_p.N20fs|DRG2_ENST00000395726.4_Frame_Shift_Ins_p.N20fs	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	20					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.N20fs*12(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					GGACACAGAAGAACAAGGGTGA	0.594																																					p.K19fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.57_58insAA	17						.																																			17932120	SO:0001589	frameshift_variant	1819	exon1			X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"""developmentally regulated GTP-binding protein 2"""			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.58_59dupAA	17.37:g.17991395_17991396dupAA	ENSP00000225729:p.Asn20fs		17932119	NM_001388	B2R8G5|Q53Y50|Q9BWB2	Frame_Shift_Ins	INS	ENST00000225729.3	37	CCDS11191.1																																																																																				0.594	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	NM_001388	
LAMB1	3912	hgsc.bcm.edu	37	7	107602082	107602082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr7:107602082G>A	ENST00000222399.6	-	16	2127	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*	LAMB1_ENST00000393561.1_Nonsense_Mutation_p.R657*|LAMB1_ENST00000393560.1_Nonsense_Mutation_p.R633*	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	633	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.R633*(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CTTCCAGGTCGCTGCACTGTG	0.473																																					p.R633X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1897T	7						.						126.0	108.0	114.0					7																	107602082		2203	4300	6503	107389318	SO:0001587	stop_gained	3912	exon16			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1897C>T	7.37:g.107602082G>A	ENSP00000222399:p.Arg633*		107389318	NM_002291	Q14D91	Nonsense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	40	8.486789	0.98832	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0627	0.93099	0.0:0.0:1.0:0.0	.	.	.	.	X	657;633;633	.	ENSP00000222399:R633X	R	-	1	2	LAMB1	107389318	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.818000	0.39012	2.499000	0.84300	0.467000	0.42956	CGA		0.473	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	
PPP1R17	10842	hgsc.bcm.edu	37	7	31746856	31746856	+	Missense_Mutation	SNP	G	G	A	rs367827815		TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr7:31746856G>A	ENST00000342032.3	+	5	1055	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	PPP1R17_ENST00000409146.3_Missense_Mutation_p.V92M|PPP1R17_ENST00000498609.1_3'UTR	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	143					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)	p.V143M(1)									CAAAGCAATCGTGGAAGATGA	0.433																																					p.V143M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G427A	7						.	G	MET/VAL,MET/VAL	0,4406		0,0,2203	135.0	116.0	123.0		427,274	-11.7	0.1	7		123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C7orf16	NM_006658.4,NM_001145123.2	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	143/156,92/105	31746856	1,13005	2203	4300	6503	31713381	SO:0001583	missense	10842	exon5			AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.427G>A	7.37:g.31746856G>A	ENSP00000340125:p.Val143Met		31713381	NM_006658	B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	37	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	G	7.168	0.586982	0.13749	0.0	1.16E-4	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.30182	1.56;1.54	5.86	-11.7	0.00046	.	1.058450	0.07215	N	0.859836	T	0.08846	0.0219	N	0.02011	-0.69	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.38672	-0.9650	10	0.18710	T	0.47	0.0892	11.6713	0.51403	0.1451:0.3686:0.4863:0.0	.	92;143	B4DE58;O96001	.;PPR17_HUMAN	M	143;92	ENSP00000340125:V143M;ENSP00000386459:V92M	ENSP00000340125:V143M	V	+	1	0	C7orf16	31713381	0.001000	0.12720	0.093000	0.20910	0.720000	0.41350	-1.856000	0.01662	-2.102000	0.00845	-0.355000	0.07637	GTG		0.433	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658	
WNT2	7472	hgsc.bcm.edu	37	7	116918296	116918296	+	Silent	SNP	G	G	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr7:116918296G>A	ENST00000265441.3	-	5	1295	c.996C>T	c.(994-996)tgC>tgT	p.C332C		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	332					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.C332W(1)|p.C332C(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AGCGCACGGCGCAGCACCAGT	0.602																																					p.C332C												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|kidney(1)	c.C996T	7						.						152.0	107.0	122.0					7																	116918296		2203	4300	6503	116705532	SO:0001819	synonymous_variant	7472	exon5			X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.996C>T	7.37:g.116918296G>A			116705532	NM_003391	A4D0V1|Q75N05|Q9UDP9	Silent	SNP	ENST00000265441.3	37	CCDS5771.1																																																																																				0.602	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391	
ASXL1	171023	hgsc.bcm.edu	37	20	31017210	31017210	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr20:31017210G>A	ENST00000375687.4	+	7	965	c.541G>A	c.(541-543)Ggg>Agg	p.G181R	ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000306058.5_Missense_Mutation_p.G176R	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	181	Interaction with KDM1A. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G181R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAAGGTAAACGGGGCCCACGT	0.517			"""F, N, Mis"""		"""MDS, CMML"""																																p.G181R			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G541A	20						.						96.0	91.0	93.0					20																	31017210		2203	4300	6503	30480871	SO:0001583	missense	171023	exon6			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.541G>A	20.37:g.31017210G>A	ENSP00000364839:p.Gly181Arg		30480871	NM_015338	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131478	0.94473	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.16073	2.37;2.39	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	L	0.56769	1.78	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.20273	-1.0280	10	0.62326	D	0.03	-17.0508	17.9513	0.89053	0.0:0.0:1.0:0.0	.	176;181	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	R	181;181;181;171;176	ENSP00000364839:G181R;ENSP00000305119:G176R	ENSP00000305119:G176R	G	+	1	0	ASXL1	30480871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.965000	0.93393	2.546000	0.85860	0.561000	0.74099	GGG		0.517	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
PLCG1	5335	hgsc.bcm.edu	37	20	39791858	39791858	+	Silent	SNP	G	G	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr20:39791858G>A	ENST00000373271.1	+	8	1137	c.732G>A	c.(730-732)ccG>ccA	p.P244P	PLCG1_ENST00000373272.2_Silent_p.P244P|PLCG1_ENST00000244007.3_Silent_p.P244P	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	244					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.P244P(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGGAGCGGCCGGAGCTTTGCC	0.602																																					p.P244P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G732A	20						.						92.0	90.0	91.0					20																	39791858		2203	4300	6503	39225272	SO:0001819	synonymous_variant	5335	exon8			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.732G>A	20.37:g.39791858G>A			39225272	NM_002660	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	CCDS13314.1																																																																																				0.602	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
NRXN3	9369	hgsc.bcm.edu	37	14	79181476	79181476	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr14:79181476G>A	ENST00000554719.1	+	5	1410	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	NRXN3_ENST00000335750.5_Missense_Mutation_p.E307K	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.E307K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAGAACCTGCGAAAGGGGTGA	0.592																																					p.E307K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G919A	14						.						38.0	39.0	39.0					14																	79181476		2203	4299	6502	78251229	SO:0001583	missense	9369	exon5			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.919G>A	14.37:g.79181476G>A	ENSP00000451648:p.Glu307Lys		78251229	NM_004796	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	35	5.433771	0.96150	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.62788	0.0;0.0	6.06	6.06	0.98353	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.050444	0.85682	D	0.000000	T	0.65080	0.2657	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.958	P;B	0.45610	0.487;0.429	T	0.63166	-0.6698	8	.	.	.	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	680;307	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	K	680;678;307;307	ENSP00000451648:E307K;ENSP00000338349:E307K	.	E	+	1	0	NRXN3	78251229	1.000000	0.71417	0.826000	0.32828	0.990000	0.78478	9.869000	0.99810	2.879000	0.98667	0.650000	0.86243	GAA		0.592	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250	
NMRK2	27231	hgsc.bcm.edu	37	19	3941069	3941069	+	Splice_Site	SNP	T	T	C			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr19:3941069T>C	ENST00000168977.2	+	7	686	c.396T>C	c.(394-396)agT>agC	p.S132S	NMRK2_ENST00000593949.1_Splice_Site_p.S137S|NMRK2_ENST00000599576.1_Intron	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2	132					NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)	p.S132S(1)									CCCTCTGCAGTACCCGCAACT	0.577																																					p.S132S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T396C	19						.						152.0	128.0	136.0					19																	3941069		2203	4300	6503	3892069	SO:0001630	splice_region_variant	27231	exon7			AF190819	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009			17871	protein-coding gene	gene with protein product	"""muscle-specific beta 1 integrin binding protein"", ""nicotinamide riboside kinase 2"""	608705	"""integrin beta 1 binding protein 3"""	ITGB1BP3		10613898, 15137942	Standard	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	Q9NPI5	OTTHUMG00000181758	ENST00000168977.2:c.396-1T>C	19.37:g.3941069T>C			3892069	NM_170678	B7ZKR3|Q52M81|Q9NZK3	Silent	SNP	ENST00000168977.2	37	CCDS12115.1																																																																																				0.577	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457492.1	NM_014446, NM_170678	Silent
RHPN2	85415	hgsc.bcm.edu	37	19	33482856	33482856	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr19:33482856G>A	ENST00000254260.3	-	13	1552	c.1517C>T	c.(1516-1518)tCg>tTg	p.S506L	RHPN2_ENST00000588683.1_5'Flank|RHPN2_ENST00000400226.4_Missense_Mutation_p.S355L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	506					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.S506L(1)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CTTGTTAGCCGAAAACACAGA	0.532																																					p.S506L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1517T	19						.						55.0	53.0	54.0					19																	33482856		2203	4300	6503	38174696	SO:0001583	missense	85415	exon13			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1517C>T	19.37:g.33482856G>A	ENSP00000254260:p.Ser506Leu		38174696	NM_033103	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861520	0.71949	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.18810	2.19;2.19	5.22	4.18	0.49190	BRO1 domain (1);PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.27419	0.0673	M	0.80183	2.485	0.80722	D	1	P	0.44195	0.828	B	0.38803	0.282	T	0.21314	-1.0249	10	0.66056	D	0.02	-0.285	12.3166	0.54960	0.0798:0.0:0.9202:0.0	.	506	Q8IUC4	RHPN2_HUMAN	L	506;236;355	ENSP00000254260:S506L;ENSP00000402244:S355L	ENSP00000254260:S506L	S	-	2	0	RHPN2	38174696	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.069000	0.76755	1.369000	0.46134	-0.119000	0.15052	TCG		0.532	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103	
SPTBN4	57731	hgsc.bcm.edu	37	19	41021260	41021260	+	Silent	SNP	C	C	T			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr19:41021260C>T	ENST00000352632.3	+	15	2894	c.2808C>T	c.(2806-2808)cgC>cgT	p.R936R	SPTBN4_ENST00000344104.3_Silent_p.R936R|SPTBN4_ENST00000598249.1_Silent_p.R936R|SPTBN4_ENST00000595535.1_Silent_p.R936R|SPTBN4_ENST00000338932.3_Silent_p.R936R			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	936					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R936R(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGATGGGCCGCGTTCTGGACG	0.577																																					p.R936R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2808T	19						.						54.0	40.0	45.0					19																	41021260		2203	4300	6503	45713100	SO:0001819	synonymous_variant	57731	exon15			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2808C>T	19.37:g.41021260C>T			45713100	NM_020971	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	CCDS12559.1																																																																																				0.577	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		
DMRTC2	63946	hgsc.bcm.edu	37	19	42351926	42351926	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr19:42351926G>T	ENST00000269945.3	+	3	398	c.347G>T	c.(346-348)gGa>gTa	p.G116V	DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.G116V	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	116					male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G116V(1)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TTCAGAAAGGGAACCACTCAG	0.597																																					p.G116V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G347T	19						.						32.0	29.0	30.0					19																	42351926		2202	4299	6501	47043766	SO:0001583	missense	63946	exon3			AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.347G>T	19.37:g.42351926G>T	ENSP00000269945:p.Gly116Val		47043766	NM_001040283	Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	G	4.119	0.020349	0.08006	.	.	ENSG00000142025	ENST00000269945	.	.	.	5.23	-0.899	0.10547	.	2.581580	0.01941	N	0.041882	T	0.26629	0.0651	L	0.46157	1.445	0.28671	N	0.905645	B;B	0.34103	0.013;0.437	B;B	0.32864	0.005;0.154	T	0.08371	-1.0725	9	0.13853	T	0.58	0.0185	1.8656	0.03198	0.1719:0.3018:0.3711:0.1552	.	116;116	B4DX56;Q8IXT2	.;DMRTD_HUMAN	V	116	.	ENSP00000269945:G116V	G	+	2	0	DMRTC2	47043766	0.352000	0.24895	0.044000	0.18714	0.010000	0.07245	0.251000	0.18257	0.021000	0.15133	-0.170000	0.13304	GGA		0.597	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283	
PLA2G4C	8605	hgsc.bcm.edu	37	19	48607853	48607853	+	Silent	SNP	T	T	G			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr19:48607853T>G	ENST00000599921.1	-	4	606	c.249A>C	c.(247-249)ggA>ggC	p.G83G	PLA2G4C_ENST00000599111.1_Silent_p.G93G|PLA2G4C_ENST00000413144.2_Silent_p.G83G|PLA2G4C_ENST00000354276.3_Silent_p.G83G			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	83	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.G83G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		ACCAAGTGGATCCAGAGACCC	0.498																																					p.G83G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A249C	19						.						134.0	118.0	123.0					19																	48607853		2203	4300	6503	53299665	SO:0001819	synonymous_variant	8605	exon4			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.249A>C	19.37:g.48607853T>G			53299665	NM_001159323	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	CCDS12710.1																																																																																				0.498	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1		
TSKS	60385	hgsc.bcm.edu	37	19	50265343	50265343	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr19:50265343C>T	ENST00000246801.3	-	2	399	c.317G>A	c.(316-318)aGc>aAc	p.S106N	RNU6-841P_ENST00000383872.1_RNA	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	106					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.S106N(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GAGTTGGCCGCTGAGGTCTTC	0.642																																					p.S106N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G317A	19						.						93.0	78.0	83.0					19																	50265343		2203	4300	6503	54957155	SO:0001583	missense	60385	exon2			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.317G>A	19.37:g.50265343C>T	ENSP00000246801:p.Ser106Asn		54957155	NM_021733	Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487802	0.64074	.	.	ENSG00000126467	ENST00000246801	T	0.36699	1.24	4.69	3.64	0.41730	.	0.245364	0.29100	N	0.013151	T	0.28333	0.0700	N	0.24115	0.695	0.80722	D	1	P	0.46912	0.886	P	0.44811	0.461	T	0.05289	-1.0894	10	0.52906	T	0.07	-6.0527	11.3734	0.49713	0.1819:0.8181:0.0:0.0	.	106	Q9UJT2	TSKS_HUMAN	N	106	ENSP00000246801:S106N	ENSP00000246801:S106N	S	-	2	0	TSKS	54957155	0.955000	0.32602	0.458000	0.27068	0.012000	0.07955	2.308000	0.43690	1.181000	0.42912	0.462000	0.41574	AGC		0.642	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733	
ZNF17	7565	hgsc.bcm.edu	37	19	57932745	57932745	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr19:57932745C>T	ENST00000601808.1	+	3	2098	c.1885C>T	c.(1885-1887)Cgg>Tgg	p.R629W	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000307658.7_Missense_Mutation_p.R631W	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	629					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R629W(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CATTAAACATCGGAGAATTCA	0.418																																					p.R629W	Melanoma(149;1637 1853 29914 42869 44988)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1885T	19						.						50.0	54.0	53.0					19																	57932745		2194	4297	6491	62624557	SO:0001583	missense	7565	exon3			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1885C>T	19.37:g.57932745C>T	ENSP00000471905:p.Arg629Trp		62624557	NM_006959	B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689525	0.48097	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.57	-4.37	0.03633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54743	0.1877	M	0.79805	2.47	0.09310	N	1	D;B	0.89917	1.0;0.045	D;B	0.72338	0.977;0.006	T	0.50775	-0.8788	8	0.87932	D	0	.	1.8893	0.03244	0.3139:0.3198:0.2578:0.1084	.	631;629	P17021-2;P17021	.;ZNF17_HUMAN	W	629	.	ENSP00000302455:R629W	R	+	1	2	ZNF17	62624557	0.000000	0.05858	0.000000	0.03702	0.417000	0.31264	-0.433000	0.06948	-0.508000	0.06540	-0.253000	0.11424	CGG		0.418	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959	
ZNF560	147741	hgsc.bcm.edu	37	19	9579831	9579832	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	CT	CT	CT	CT	CT	CT	Unknown	Wildtype	None	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr19:9579831_9579832delCT	ENST00000301480.4	-	9	774_775	c.561_562delAG	c.(559-564)ccagccfs	p.A188fs		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGCCAAAGGGCTGGCCCTTTGG	0.312																																					p.187_188del												.	.	0			c.561_562del	19						.																																			9440832	SO:0001589	frameshift_variant	147741	exon9			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.561_562delAG	19.37:g.9579831_9579832delCT	ENSP00000301480:p.Ala188fs		9440831	NM_152476	Q495S9|Q495T1	Frame_Shift_Del	DEL	ENST00000301480.4	37	CCDS12214.1																																																																																				0.312	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476	
ZNF418	147686	hgsc.bcm.edu	37	19	58437734	58437734	+	Silent	SNP	C	C	T			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr19:58437734C>T	ENST00000396147.1	-	4	2106	c.1815G>A	c.(1813-1815)gcG>gcA	p.A605A	ZNF418_ENST00000599852.1_Silent_p.A520A|ZNF418_ENST00000425570.3_Silent_p.A626A|ZNF418_ENST00000595830.1_Silent_p.A605A|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	605					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A605A(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GTTTAAAATGCGCAGACCTTC	0.443																																					p.A605A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1815A	19						.						100.0	103.0	102.0					19																	58437734		2199	4297	6496	63129546	SO:0001819	synonymous_variant	147686	exon4			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1815G>A	19.37:g.58437734C>T			63129546	NM_133460	Q2M1S2|Q670L5|Q96N18	Silent	SNP	ENST00000396147.1	37	CCDS42642.1																																																																																				0.443	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460	
TAF2	6873	hgsc.bcm.edu	37	8	120754786	120754786	+	Missense_Mutation	SNP	G	G	A	rs527695895		TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr8:120754786G>A	ENST00000378164.2	-	25	3623	c.3325C>T	c.(3325-3327)Cgg>Tgg	p.R1109W		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1109					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R1109W(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTTCCCTTCCGTGCAAGTTCC	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		13524	0.0		0.001	False		,,,				2504	0.0				p.R1109W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3325T	8						.						58.0	56.0	57.0					8																	120754786		2203	4300	6503	120823967	SO:0001583	missense	6873	exon25			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3325C>T	8.37:g.120754786G>A	ENSP00000367406:p.Arg1109Trp		120823967	NM_003184	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445714	0.43429	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.32515	2.42;1.45	4.95	4.95	0.65309	.	0.183986	0.35436	N	0.003207	T	0.30885	0.0779	N	0.19112	0.55	0.30284	N	0.791027	D	0.64830	0.994	P	0.52066	0.689	T	0.18209	-1.0344	10	0.72032	D	0.01	-24.0295	14.0608	0.64800	0.0:0.0:1.0:0.0	.	1109	Q6P1X5	TAF2_HUMAN	W	1109;285	ENSP00000367406:R1109W;ENSP00000436750:R285W	ENSP00000367406:R1109W	R	-	1	2	TAF2	120823967	0.724000	0.28038	0.227000	0.23927	0.145000	0.21501	2.061000	0.41403	2.469000	0.83416	0.591000	0.81541	CGG		0.393	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	
MYBPHL	343263	hgsc.bcm.edu	37	1	109840189	109840189	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr1:109840189G>C	ENST00000357155.1	-	3	334	c.285C>G	c.(283-285)gaC>gaG	p.D95E	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	95	Ig-like C2-type 1.							p.D95E(1)		central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CACGCCTGGTGTCCAAGGCAC	0.582																																					p.D95E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C285G	1						.						84.0	76.0	79.0					1																	109840189		2203	4300	6503	109641712	SO:0001583	missense	343263	exon3			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.285C>G	1.37:g.109840189G>C	ENSP00000349678:p.Asp95Glu		109641712	NM_001010985	B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580082	0.28180	.	.	ENSG00000221986	ENST00000357155	T	0.65364	-0.15	4.63	-2.87	0.05700	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52240	0.1722	L	0.53617	1.68	0.24510	N	0.994217	D;B	0.63046	0.992;0.019	D;B	0.63283	0.913;0.178	T	0.54364	-0.8305	9	0.24483	T	0.36	.	10.7159	0.46013	0.6405:0.0:0.3595:0.0	.	95;95	B7ZME5;A2RUH7	.;MBPHL_HUMAN	E	95	ENSP00000349678:D95E	ENSP00000349678:D95E	D	-	3	2	MYBPHL	109641712	0.023000	0.18921	0.028000	0.17463	0.700000	0.40528	0.002000	0.13061	-0.386000	0.07821	0.655000	0.94253	GAC		0.582	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985	
PIAS3	10401	hgsc.bcm.edu	37	1	145578228	145578228	+	Missense_Mutation	SNP	G	G	A	rs374724932		TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr1:145578228G>A	ENST00000393045.2	+	2	281	c.191G>A	c.(190-192)cGc>cAc	p.R64H	PIAS3_ENST00000369298.1_Missense_Mutation_p.R64H|PIAS3_ENST00000369299.3_Missense_Mutation_p.R55H	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	64					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.R55H(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACCGACGACGCTTTCCCCGG	0.602																																					p.R64H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G191A	1						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	143.0	134.0	137.0		191	3.5	1.0	1		137	0,8600		0,0,4300	no	missense	PIAS3	NM_006099.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	64/629	145578228	1,13005	2203	4300	6503	144289585	SO:0001583	missense	10401	exon2			AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.191G>A	1.37:g.145578228G>A	ENSP00000376765:p.Arg64His		144289585	NM_006099	Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	CCDS920.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527825	0.85706	2.27E-4	0.0	ENSG00000131788	ENST00000393046;ENST00000369299;ENST00000393045;ENST00000369298	T;T;T;T	0.52983	0.66;0.64;1.17;1.0	3.5	3.5	0.40072	DNA-binding SAP (1);	0.000000	0.45126	D	0.000381	T	0.57651	0.2068	M	0.69523	2.12	0.50313	D	0.999862	D;D	0.89917	0.997;1.0	P;D	0.79108	0.884;0.992	T	0.64266	-0.6448	10	0.87932	D	0	-10.4083	12.5424	0.56179	0.0:0.0:1.0:0.0	.	55;64	F8WA94;Q9Y6X2	.;PIAS3_HUMAN	H	55;55;64;64	ENSP00000376766:R55H;ENSP00000358305:R55H;ENSP00000376765:R64H;ENSP00000358304:R64H	ENSP00000358304:R64H	R	+	2	0	PIAS3	144289585	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.644000	0.98468	1.779000	0.52309	0.491000	0.48974	CGC		0.602	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099	
SELENBP1	8991	hgsc.bcm.edu	37	1	151342220	151342220	+	Silent	SNP	G	G	C			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr1:151342220G>C	ENST00000368868.5	-	2	121	c.30C>G	c.(28-30)ccC>ccG	p.P10P	SELENBP1_ENST00000447402.3_Silent_p.P10P|SELENBP1_ENST00000435071.1_5'UTR|SELENBP1_ENST00000426705.2_Silent_p.P52P|SELENBP1_ENST00000473693.1_5'UTR	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	10					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)	p.P10P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGAGTAGCCGGGTCCACAAT	0.602																																					p.P10P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C30G	1						.						60.0	49.0	53.0					1																	151342220		2152	4192	6344	149608844	SO:0001819	synonymous_variant	8991	exon2			U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.30C>G	1.37:g.151342220G>C			149608844	NM_003944	A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Silent	SNP	ENST00000368868.5	37	CCDS995.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306463	0.23736	.	.	ENSG00000143416	ENST00000424475	.	.	.	4.56	-9.12	0.00707	.	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55062	-0.8199	6	0.87932	D	0	-11.9682	3.2633	0.06856	0.2463:0.0969:0.457:0.1998	.	.	.	.	R	33	.	ENSP00000396209:P33R	P	-	2	0	SELENBP1	149608844	0.000000	0.05858	0.686000	0.30086	0.502000	0.33828	-4.325000	0.00252	-2.007000	0.00956	-0.379000	0.06801	CCG		0.602	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4		
CSMD2	114784	hgsc.bcm.edu	37	1	34033332	34033332	+	Silent	SNP	G	G	A	rs140959425		TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr1:34033332G>A	ENST00000373381.4	-	53	8417	c.8241C>T	c.(8239-8241)aaC>aaT	p.N2747N		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2724	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N2724K(1)|p.N2724N(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGATGTGTCCGTTGACAATGG	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16646	0.0		0.0	False		,,,				2504	0.0				p.N2724N												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C8172T	1						.	G		0,4406		0,0,2203	100.0	84.0	89.0		8172	-10.6	0.1	1	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CSMD2	NM_052896.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2724/3488	34033332	1,13005	2203	4300	6503	33805919	SO:0001819	synonymous_variant	114784	exon54			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.8241C>T	1.37:g.34033332G>A			33805919	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37																																																																																					0.547	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
ZMYM6	9204	hgsc.bcm.edu	37	1	35472641	35472641	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr1:35472641C>T	ENST00000357182.4	-	12	1951	c.1724G>A	c.(1723-1725)cGa>cAa	p.R575Q	ZMYM6_ENST00000487874.1_Missense_Mutation_p.R575Q|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.R575Q	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	575					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R575Q(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AATGTTGCCTCGCCACTTTAT	0.343																																					p.R575Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1724A	1						.						116.0	113.0	114.0					1																	35472641		2203	4300	6503	35245228	SO:0001583	missense	9204	exon12			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1724G>A	1.37:g.35472641C>T	ENSP00000349708:p.Arg575Gln		35245228	NM_007167	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	CCDS387.2	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115115	0.56505	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.25414	1.8;2.94	5.02	3.17	0.36434	TRASH (1);	0.429687	0.22913	N	0.054104	T	0.19805	0.0476	L	0.38175	1.15	0.36044	D	0.840329	B;B;B	0.23316	0.083;0.065;0.059	B;B;B	0.20955	0.007;0.01;0.032	T	0.12293	-1.0553	10	0.48119	T	0.1	-3.3517	10.0978	0.42486	0.0:0.775:0.0:0.225	.	478;575;575	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	Q	575	ENSP00000362437:R575Q;ENSP00000349708:R575Q	ENSP00000349708:R575Q	R	-	2	0	ZMYM6	35245228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.547000	0.36190	0.831000	0.34780	0.655000	0.94253	CGA		0.343	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167	
KANK4	163782	hgsc.bcm.edu	37	1	62728927	62728927	+	Silent	SNP	C	C	T			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr1:62728927C>T	ENST00000371153.4	-	7	2754	c.2376G>A	c.(2374-2376)tcG>tcA	p.S792S	KANK4_ENST00000354381.3_Silent_p.S164S|KANK4_ENST00000317477.4_5'UTR|KANK4_ENST00000371150.1_Silent_p.S148S	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	792						cytoplasm (GO:0005737)		p.S792S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CGGGGCTAGACGACTTCCGGC	0.572																																					p.S792S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2376A	1						.						72.0	56.0	61.0					1																	62728927		2203	4300	6503	62501515	SO:0001819	synonymous_variant	163782	exon7			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2376G>A	1.37:g.62728927C>T			62501515	NM_181712	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	CCDS620.1																																																																																				0.572	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712	
FCRL4	83417	hgsc.bcm.edu	37	1	157557884	157557884	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr1:157557884A>C	ENST00000271532.1	-	4	468	c.333T>G	c.(331-333)taT>taG	p.Y111*	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	111	Ig-like C2-type 2.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y111*(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CAAACACAGAATATGGTGCCT	0.413																																					p.Y111X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T333G	1						.						72.0	65.0	67.0					1																	157557884		2203	4300	6503	155824508	SO:0001587	stop_gained	83417	exon4			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.333T>G	1.37:g.157557884A>C	ENSP00000271532:p.Tyr111*		155824508	NM_031282	Q96PJ3|Q96RE0	Nonsense_Mutation	SNP	ENST00000271532.1	37	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.023874	0.93462	.	.	ENSG00000163518	ENST00000271532	.	.	.	4.03	-1.36	0.09085	.	1.758380	0.03546	N	0.224770	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0639	0.09851	0.5364:0.1793:0.2843:0.0	.	.	.	.	X	111	.	ENSP00000271532:Y111X	Y	-	3	2	FCRL4	155824508	0.001000	0.12720	0.000000	0.03702	0.444000	0.32077	0.249000	0.18216	-0.371000	0.08004	0.383000	0.25322	TAT		0.413	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282	
TAGLN	6876	hgsc.bcm.edu	37	11	117074598	117074598	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr11:117074598G>A	ENST00000532870.1	+	3	1600	c.459G>A	c.(457-459)atG>atA	p.M153I	TAGLN_ENST00000530649.1_Missense_Mutation_p.M153I|PCSK7_ENST00000529458.1_5'Flank|TAGLN_ENST00000392951.4_Missense_Mutation_p.M153I			Q01995	TAGL_HUMAN	transgelin	153					epithelial cell differentiation (GO:0030855)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)		p.M153I(1)		central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		ACTGGTTTATGAAGTATGTGG	0.562																																					p.M153I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G459A	11						.						82.0	73.0	76.0					11																	117074598		2201	4296	6497	116579808	SO:0001583	missense	6876	exon4			M95787	CCDS8381.1	11q23.2	2008-07-21				ENSG00000149591			11553	protein-coding gene	gene with protein product	"""SM22-alpha"", ""transgelin variant 2"""	600818				8117285, 1520290	Standard	NM_003186		Approved	SM22, WS3-10, TAGLN1, SMCC, DKFZp686P11128	uc001pqm.3	Q01995		ENST00000532870.1:c.459G>A	11.37:g.117074598G>A	ENSP00000432282:p.Met153Ile		116579808	NM_003186	O15542	Missense_Mutation	SNP	ENST00000532870.1	37	CCDS8381.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841489	0.51057	.	.	ENSG00000149591	ENST00000392951;ENST00000525531;ENST00000278968;ENST00000530649;ENST00000532870	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	4.84	4.84	0.62591	Calponin homology domain (2);	0.177153	0.64402	D	0.000008	T	0.25195	0.0612	L	0.34521	1.04	0.47153	D	0.999331	B	0.02656	0.0	B	0.06405	0.002	T	0.03608	-1.1020	10	0.21540	T	0.41	.	17.0492	0.86514	0.0:0.0:1.0:0.0	.	153	Q01995	TAGL_HUMAN	I	153	ENSP00000376678:M153I;ENSP00000432054:M153I;ENSP00000278968:M153I;ENSP00000431941:M153I;ENSP00000432282:M153I	ENSP00000278968:M153I	M	+	3	0	TAGLN	116579808	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.658000	0.54482	2.666000	0.90696	0.561000	0.74099	ATG		0.562	TAGLN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392864.1	NM_001001522	
OR10G7	390265	hgsc.bcm.edu	37	11	123909292	123909292	+	Silent	SNP	C	C	T	rs200548908	byFrequency	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr11:123909292C>T	ENST00000330487.5	-	1	425	c.417G>A	c.(415-417)tcG>tcA	p.S139S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S139S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGAGGGCACACGAGCGCCCAG	0.562																																					p.S139S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G417A	11						.	C		0,4400		0,0,2200	191.0	181.0	184.0		417	-3.1	0.0	11		184	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	OR10G7	NM_001004463.1		0,2,6497	TT,TC,CC		0.0233,0.0,0.0154		139/312	123909292	2,12996	2200	4299	6499	123414502	SO:0001819	synonymous_variant	390265	exon1			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.417G>A	11.37:g.123909292C>T			123414502	NM_001004463	Q6IFE8	Silent	SNP	ENST00000330487.5	37	CCDS31705.1																																																																																				0.562	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463	
OR51B2	79345	hgsc.bcm.edu	37	11	5345048	5345048	+	Silent	SNP	A	A	G			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr11:5345048A>G	ENST00000328813.2	-	1	534	c.480T>C	c.(478-480)cgT>cgC	p.R160R	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R160R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGAAAAAAGACGCAAAATTA	0.398																																					p.R160R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T480C	11						.						100.0	98.0	99.0					11																	5345048		2201	4297	6498	5301624	SO:0001819	synonymous_variant	79345	exon1			AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.480T>C	11.37:g.5345048A>G			5301624	NM_033180	Q96RD4	Silent	SNP	ENST00000328813.2	37	CCDS31377.1																																																																																				0.398	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180	
ALG8	79053	hgsc.bcm.edu	37	11	77835150	77835150	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr11:77835150C>A	ENST00000299626.5	-	3	356	c.285G>T	c.(283-285)ttG>ttT	p.L95F	ALG8_ENST00000376156.3_Missense_Mutation_p.L95F|ALG8_ENST00000532552.2_Intron	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	95					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)	p.L95F(2)		NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TGGAGTAATTCAAATTATGGA	0.403																																					p.L95F												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G285T	11						.						118.0	122.0	121.0					11																	77835150		2200	4292	6492	77512798	SO:0001583	missense	79053	exon3			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.285G>T	11.37:g.77835150C>A	ENSP00000299626:p.Leu95Phe		77512798	NM_001007027	A6NDW6|O60860	Missense_Mutation	SNP	ENST00000299626.5	37	CCDS8258.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508111	0.64410	.	.	ENSG00000159063	ENST00000299626;ENST00000376156;ENST00000525755;ENST00000530454;ENST00000525870;ENST00000527099;ENST00000530910;ENST00000525761	D;D;D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	6.01	4.11	0.48088	.	0.139665	0.49916	D	0.000122	D	0.92185	0.7522	M	0.88105	2.93	0.58432	D	0.999994	D;D	0.69078	0.997;0.996	D;D	0.77557	0.99;0.985	D	0.91543	0.5251	10	0.59425	D	0.04	-5.2707	9.3407	0.38079	0.0:0.6538:0.2743:0.0719	.	95;95	Q9BVK2;A6NDW6	ALG8_HUMAN;.	F	95;95;44;96;7;7;86;69	ENSP00000299626:L95F;ENSP00000365326:L95F;ENSP00000435467:L44F;ENSP00000434660:L96F;ENSP00000435417:L7F;ENSP00000436064:L7F;ENSP00000437033:L86F;ENSP00000431357:L69F	ENSP00000299626:L95F	L	-	3	2	ALG8	77512798	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	1.798000	0.38814	0.840000	0.34995	0.650000	0.86243	TTG		0.403	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	NM_024079	
ST14	6768	hgsc.bcm.edu	37	11	130058083	130058083	+	Silent	SNP	G	G	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr11:130058083G>A	ENST00000278742.5	+	2	574	c.156G>A	c.(154-156)ccG>ccA	p.P52P		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	52					keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P52P(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AGCATGGCCCGGGGCGCTGGG	0.602																																					p.P52P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G156A	11						.						69.0	67.0	67.0					11																	130058083		2201	4297	6498	129563293	SO:0001819	synonymous_variant	6768	exon2			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.156G>A	11.37:g.130058083G>A			129563293	NM_021978	Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	CCDS8487.1																																																																																				0.602	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1		
F13A1	2162	hgsc.bcm.edu	37	6	6175035	6175035	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr6:6175035T>C	ENST00000264870.3	-	12	1790	c.1525A>G	c.(1525-1527)Aca>Gca	p.T509A		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	509					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.T509A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ACACCTTCTGTGTTGAGGGGC	0.468																																					p.T509A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1525G	6						.						134.0	117.0	122.0					6																	6175035		2203	4300	6503	6120034	SO:0001583	missense	2162	exon12			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1525A>G	6.37:g.6175035T>C	ENSP00000264870:p.Thr509Ala		6120034	NM_000129	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	T	1.926	-0.447183	0.04572	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.78481	-1.18	5.78	5.78	0.91487	.	0.552003	0.19497	N	0.112830	T	0.38081	0.1027	L	0.28274	0.84	0.29046	N	0.884805	P;B	0.34639	0.461;0.015	B;B	0.29785	0.107;0.003	T	0.21586	-1.0241	10	0.07644	T	0.81	.	7.1049	0.25358	0.0:0.0749:0.1489:0.7763	.	446;509	F5H080;P00488	.;F13A_HUMAN	A	509;446	ENSP00000264870:T509A	ENSP00000264870:T509A	T	-	1	0	F13A1	6120034	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	2.881000	0.48538	2.202000	0.70862	0.523000	0.50628	ACA		0.468	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129	
ZNF232	7775	hgsc.bcm.edu	37	17	5009164	5009164	+	Silent	SNP	G	G	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr17:5009164G>A	ENST00000250076.3	-	5	1944	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	ZNF232_ENST00000575898.1_Silent_p.L421L|ZNF232_ENST00000575538.1_5'Flank	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	403					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L430L(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GATGTCTAATGAGCTCTGAGC	0.423																																					p.L430L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1290T	17						.						103.0	105.0	105.0					17																	5009164		2203	4300	6503	4949888	SO:0001819	synonymous_variant	7775	exon5			AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.1290C>T	17.37:g.5009164G>A			4949888	NM_014519		Silent	SNP	ENST00000250076.3	37	CCDS11068.1																																																																																				0.423	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519	
TP53	7157	hgsc.bcm.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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.R273C	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,central_nervous_system,brain,Substitution - Missense,0	.	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	c.C817T	17	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	.						65.0	56.0	59.0					17																	7577121		2203	4300	6503	7517846	SO:0001583	missense	7157	exon8	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		7517846	NM_001126114	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	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
CDC27	996	hgsc.bcm.edu	37	17	45219255	45219255	+	Silent	SNP	A	A	G	rs79415072		TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr17:45219255A>G	ENST00000066544.3	-	12	1608	c.1515T>C	c.(1513-1515)atT>atC	p.I505I	CDC27_ENST00000446365.2_Silent_p.I444I|CDC27_ENST00000527547.1_Silent_p.I504I|CDC27_ENST00000531206.1_Silent_p.I511I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	505					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.I511I(1)|p.I505I(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGGCCCTTCCAATTTGGCACA	0.328																																					p.I511I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1533C	17						.						95.0	100.0	98.0					17																	45219255		2203	4298	6501	42574254	SO:0001819	synonymous_variant	996	exon12			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1515T>C	17.37:g.45219255A>G			42574254	NM_001114091	G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	CCDS11509.1																																																																																				0.328	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
KRTAP6-2	337967	hgsc.bcm.edu	37	21	31971133	31971133	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr21:31971133C>T	ENST00000334897.3	-	1	86	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	21						intermediate filament (GO:0005882)		p.E21K(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						CCTAGGCCTTCGTATCCACAG	0.567																																					p.E21K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G61A	21						.						186.0	152.0	163.0					21																	31971133		2203	4300	6503	30893004	SO:0001583	missense	337967	exon1			AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930		"""Keratin associated proteins"""	18932	protein-coding gene	gene with protein product						12359730	Standard	NM_181604		Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.61G>A	21.37:g.31971133C>T	ENSP00000334560:p.Glu21Lys		30893004	NM_181604		Missense_Mutation	SNP	ENST00000334897.3	37	CCDS13600.1	.	.	.	.	.	.	.	.	.	.	C	8.528	0.870409	0.17322	.	.	ENSG00000186930	ENST00000334897	T	0.09445	2.98	4.47	3.55	0.40652	.	0.478185	0.15430	U	0.262761	T	0.08537	0.0212	.	.	.	0.19945	N	0.999941	B	0.13145	0.007	B	0.08055	0.003	T	0.20538	-1.0272	9	0.87932	D	0	.	6.4672	0.21987	0.0:0.8596:0.0:0.1404	.	21	Q3LI66	KRA62_HUMAN	K	21	ENSP00000334560:E21K	ENSP00000334560:E21K	E	-	1	0	KRTAP6-2	30893004	0.005000	0.15991	0.867000	0.34043	0.106000	0.19336	-0.109000	0.10840	1.402000	0.46780	0.650000	0.86243	GAA		0.567	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3		
GP2	2813	hgsc.bcm.edu	37	16	20334243	20334243	+	Silent	SNP	A	A	T			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr16:20334243A>T	ENST00000381362.4	-	5	679	c.603T>A	c.(601-603)ctT>ctA	p.L201L	GP2_ENST00000381360.5_Silent_p.L54L|GP2_ENST00000302555.5_Silent_p.L198L|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Silent_p.L51L	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	201	EGF-like.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.L198L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGTTGAGGGCAAGGCACTCCT	0.587																																					p.L51L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T153A	16						.						93.0	72.0	79.0					16																	20334243		2203	4300	6503	20241744	SO:0001819	synonymous_variant	2813	exon3			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.603T>A	16.37:g.20334243A>T			20241744	NM_001007242	A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	ENST00000381362.4	37	CCDS42128.1																																																																																				0.587	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295	
GTF3C1	2975	hgsc.bcm.edu	37	16	27495566	27495566	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr16:27495566T>G	ENST00000356183.4	-	25	3982	c.3967A>C	c.(3967-3969)Ata>Cta	p.I1323L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.I1323L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1323					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.I1323L(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTTTTGACTATGTAGCGAGCT	0.483																																					p.I1323L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3967C	16						.						139.0	128.0	132.0					16																	27495566		2197	4300	6497	27403067	SO:0001583	missense	2975	exon25			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3967A>C	16.37:g.27495566T>G	ENSP00000348510:p.Ile1323Leu		27403067	NM_001520	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.807291	0.50421	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.23552	1.9	5.91	3.66	0.41972	.	0.100703	0.64402	N	0.000004	T	0.22666	0.0547	M	0.62723	1.935	0.34893	D	0.745693	B;B	0.15930	0.015;0.005	B;B	0.14578	0.011;0.009	T	0.19976	-1.0289	10	0.19147	T	0.46	-10.6368	7.1581	0.25649	0.1428:0.0714:0.0:0.7858	.	1323;1323	Q12789;Q12789-3	TF3C1_HUMAN;.	L	1323;1319	ENSP00000348510:I1323L	ENSP00000348510:I1323L	I	-	1	0	GTF3C1	27403067	1.000000	0.71417	0.976000	0.42696	0.958000	0.62258	4.620000	0.61226	0.481000	0.27557	0.533000	0.62120	ATA		0.483	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	
LAMA1	284217	hgsc.bcm.edu	37	18	7049146	7049146	+	Silent	SNP	C	C	T	rs146352388		TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr18:7049146C>T	ENST00000389658.3	-	5	792	c.699G>A	c.(697-699)acG>acA	p.T233T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	233	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.T233T(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTGCATTGAGCGTTCTAATGC	0.488																																					p.T233T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G699A	18						.	T		0,4406		0,0,2203	144.0	119.0	128.0		699	-4.1	0.4	18	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LAMA1	NM_005559.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		233/3076	7049146	1,13005	2203	4300	6503	7039146	SO:0001819	synonymous_variant	284217	exon5			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.699G>A	18.37:g.7049146C>T			7039146	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.488	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
ZNF521	25925	hgsc.bcm.edu	37	18	22806393	22806393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr18:22806393G>A	ENST00000361524.3	-	4	1637	c.1489C>T	c.(1489-1491)Cga>Tga	p.R497*	ZNF521_ENST00000584787.1_Nonsense_Mutation_p.R277*|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.R497*|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	497					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.R497*(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGAGAACATCGGATGTGTTCC	0.463			T	PAX5	ALL																																p.R497X			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1489T	18						.						99.0	98.0	98.0					18																	22806393		2203	4300	6503	21060391	SO:0001587	stop_gained	25925	exon4			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1489C>T	18.37:g.22806393G>A	ENSP00000354794:p.Arg497*		21060391	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Nonsense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	36	5.974097	0.97162	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4219	14.9968	0.71439	0.0:0.0:0.8575:0.1425	.	.	.	.	X	497;531;497	.	ENSP00000354794:R497X	R	-	1	2	ZNF521	21060391	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.166000	0.64965	2.879000	0.98667	0.650000	0.86243	CGA		0.463	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
GOLGB1	2804	hgsc.bcm.edu	37	3	121414488	121414488	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr3:121414488C>G	ENST00000340645.5	-	13	4992	c.4867G>C	c.(4867-4869)Gag>Cag	p.E1623Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E1628Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1623					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E1623Q(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTAACATTCTCATAGGACTGC	0.388																																					p.E1623Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4867C	3						.						124.0	127.0	126.0					3																	121414488		2203	4300	6503	122897178	SO:0001583	missense	2804	exon13			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4867G>C	3.37:g.121414488C>G	ENSP00000341848:p.Glu1623Gln		122897178	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783615	0.49891	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.37752	1.78;1.76;1.18	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000017	T	0.57681	0.2070	M	0.62016	1.91	0.53688	D	0.999972	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.998;0.997;0.998;0.994	T	0.50004	-0.8878	10	0.30854	T	0.27	.	17.2816	0.87130	0.0:1.0:0.0:0.0	.	1548;1587;1628;1628;1623	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	Q	1623;1628;1587	ENSP00000341848:E1623Q;ENSP00000377275:E1628Q;ENSP00000418231:E1587Q	ENSP00000341848:E1623Q	E	-	1	0	GOLGB1	122897178	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.670000	0.90874	0.561000	0.74099	GAG		0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
EPHA3	2042	hgsc.bcm.edu	37	3	89480412	89480412	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr3:89480412G>A	ENST00000336596.2	+	13	2474	c.2249G>A	c.(2248-2250)cGg>cAg	p.R750Q	EPHA3_ENST00000494014.1_Missense_Mutation_p.R750Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	750	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.R750L(2)|p.R750Q(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTCGCTGCTCGGAACATCTTG	0.488										TSP Lung(6;0.00050)																											p.R750Q												.	.	4	Substitution - Missense(4)	lung(2)|large_intestine(1)|endometrium(1)	c.G2249A	3						.						161.0	145.0	150.0					3																	89480412		2203	4300	6503	89563102	SO:0001583	missense	2042	exon13			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2249G>A	3.37:g.89480412G>A	ENSP00000337451:p.Arg750Gln		89563102	NM_005233	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	35	5.555110	0.96514	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;D	0.87334	-2.24;-2.24	5.33	5.33	0.75918	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93275	0.7857	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92585	0.6078	9	.	.	.	.	19.3726	0.94495	0.0:0.0:1.0:0.0	.	750	P29320	EPHA3_HUMAN	Q	750	ENSP00000337451:R750Q;ENSP00000419190:R750Q	.	R	+	2	0	EPHA3	89563102	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.813000	0.99286	2.648000	0.89879	0.585000	0.79938	CGG		0.488	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
DZIP1L	199221	hgsc.bcm.edu	37	3	137811363	137811363	+	Silent	SNP	C	C	T			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr3:137811363C>T	ENST00000327532.2	-	5	1094	c.732G>A	c.(730-732)agG>agA	p.R244R	DZIP1L_ENST00000469243.1_Silent_p.R244R|DZIP1L_ENST00000488595.1_5'Flank	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	244					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.R244R(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CTTCTATTTCCCTCTGATGAA	0.323																																					p.R244R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G732A	3						.						138.0	142.0	141.0					3																	137811363		2203	4298	6501	139294053	SO:0001819	synonymous_variant	199221	exon6			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.732G>A	3.37:g.137811363C>T			139294053	NM_001170538	C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	37	CCDS3096.1																																																																																				0.323	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543	
LPAR5	57121	hgsc.bcm.edu	37	12	6730348	6730348	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr12:6730348G>A	ENST00000329858.4	-	2	823	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Missense_Mutation_p.R23C	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R23C(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						AAGTGCAGGCGGTGGGTAGGT	0.627																																					p.R23C	NSCLC(74;891 2312 37538)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C67T	12						.						128.0	109.0	115.0					12																	6730348		2203	4300	6503	6600609	SO:0001583	missense	57121	exon2			AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.67C>T	12.37:g.6730348G>A	ENSP00000327875:p.Arg23Cys		6600609	NM_020400		Missense_Mutation	SNP	ENST00000329858.4	37	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505270	0.44558	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.37584	1.19;1.19	5.16	5.16	0.70880	.	0.882556	0.09751	N	0.760570	T	0.29914	0.0748	N	0.19112	0.55	0.32331	N	0.561067	D	0.64830	0.994	P	0.44477	0.451	T	0.15435	-1.0437	10	0.38643	T	0.18	.	13.6364	0.62225	0.0:0.0:0.8461:0.1539	.	23	Q9H1C0	LPAR5_HUMAN	C	23	ENSP00000327875:R23C;ENSP00000393098:R23C	ENSP00000327875:R23C	R	-	1	0	LPAR5	6600609	0.097000	0.21791	0.400000	0.26346	0.410000	0.31052	0.407000	0.21049	2.678000	0.91216	0.561000	0.74099	CGC		0.627	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400	
KRAS	3845	hgsc.bcm.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G12D	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,0	.	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	c.G35A	12						.						91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp		25289551	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
TRPV4	59341	hgsc.bcm.edu	37	12	110252505	110252505	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr12:110252505G>A	ENST00000418703.2	-	1	191	c.97C>T	c.(97-99)Ctc>Ttc	p.L33F	TRPV4_ENST00000541794.1_Missense_Mutation_p.L33F|TRPV4_ENST00000392719.2_Missense_Mutation_p.L33F|TRPV4_ENST00000261740.2_Missense_Mutation_p.L33F|TRPV4_ENST00000537083.1_Missense_Mutation_p.L33F|TRPV4_ENST00000536570.1_Intron|TRPV4_ENST00000346520.2_Missense_Mutation_p.L33F|TRPV4_ENST00000544971.1_Missense_Mutation_p.L33F|TRPV4_ENST00000536838.1_Intron	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	33					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.L33F(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGGGAGGAGAGAGGAAAAGCC	0.687																																					p.L33F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C97T	12						.						25.0	24.0	24.0					12																	110252505		2203	4298	6501	108736888	SO:0001583	missense	59341	exon2			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.97C>T	12.37:g.110252505G>A	ENSP00000406191:p.Leu33Phe		108736888	NM_021625	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694286	0.68386	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794	D;D;D;D;D;D;D	0.93604	-3.07;-3.07;-3.16;-3.25;-3.21;-3.25;-3.16	3.62	3.62	0.41486	.	0.479375	0.20341	U	0.094224	D	0.93197	0.7833	L	0.29908	0.895	0.30493	N	0.771226	D;D;D;D	0.71674	0.997;0.986;0.998;0.992	P;P;P;P	0.62560	0.904;0.655;0.892;0.813	D	0.91097	0.4911	10	0.62326	D	0.03	.	13.8858	0.63708	0.0:0.0:1.0:0.0	.	33;33;33;33	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4	.;TRPV4_HUMAN;.;.	F	33	ENSP00000406191:L33F;ENSP00000261740:L33F;ENSP00000376480:L33F;ENSP00000319003:L33F;ENSP00000443611:L33F;ENSP00000442738:L33F;ENSP00000442167:L33F	ENSP00000261740:L33F	L	-	1	0	TRPV4	108736888	1.000000	0.71417	0.998000	0.56505	0.530000	0.34684	5.389000	0.66255	1.586000	0.49944	0.281000	0.19383	CTC		0.687	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625	
SNX1	6642	hgsc.bcm.edu	37	15	64404811	64404811	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr15:64404811C>G	ENST00000559844.1	+	2	213	c.199C>G	c.(199-201)Ccc>Gcc	p.P67A	Y_RNA_ENST00000364201.1_RNA|SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000353874.4_Missense_Mutation_p.P67A|SNX1_ENST00000261889.5_Missense_Mutation_p.P67A|SNX1_ENST00000561026.1_Missense_Mutation_p.P67A			Q13596	SNX1_HUMAN	sorting nexin 1	67					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)	p.P67A(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						ATCCCTTCTTCCCATCAACAA	0.393																																					p.P67A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C199G	15						.						105.0	97.0	99.0					15																	64404811		2203	4300	6503	62191864	SO:0001583	missense	6642	exon2			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.199C>G	15.37:g.64404811C>G	ENSP00000453785:p.Pro67Ala		62191864	NM_003099	A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	37	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702985	0.30232	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T;T;T	0.47177	0.85;0.85;0.85	5.8	4.88	0.63580	.	0.162190	0.56097	D	0.000040	T	0.33147	0.0853	L	0.33485	1.01	0.38188	D	0.939824	B;B;P;B	0.35033	0.005;0.341;0.481;0.097	B;B;B;B	0.29524	0.007;0.086;0.103;0.038	T	0.26608	-1.0098	10	0.32370	T	0.25	-12.2963	10.8292	0.46650	0.0:0.9137:0.0:0.0863	.	67;67;67;67	Q6ZRJ8;Q13596-2;A6NKH4;Q13596	.;.;.;SNX1_HUMAN	A	67	ENSP00000369638:P67A;ENSP00000326668:P67A;ENSP00000261889:P67A	ENSP00000261889:P67A	P	+	1	0	SNX1	62191864	0.908000	0.30866	0.998000	0.56505	0.946000	0.59487	4.228000	0.58619	1.470000	0.48102	0.561000	0.74099	CCC		0.393	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099	
EVC2	132884	hgsc.bcm.edu	37	4	5624288	5624288	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr4:5624288C>T	ENST00000344408.5	-	14	2530	c.2477G>A	c.(2476-2478)cGa>cAa	p.R826Q	EVC2_ENST00000310917.2_Missense_Mutation_p.R746Q|EVC2_ENST00000344938.1_Missense_Mutation_p.R826Q	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	826					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R826Q(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTCCCAGCGTCGCAGCTCTGC	0.622																																					p.R746Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2237A	4						.						74.0	46.0	56.0					4																	5624288		2203	4300	6503	5675189	SO:0001583	missense	132884	exon14			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2477G>A	4.37:g.5624288C>T	ENSP00000342144:p.Arg826Gln		5675189	NM_001166136	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395695	0.62177	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	D;D;D	0.90844	-2.72;-2.74;-2.73	5.44	5.44	0.79542	.	0.342390	0.34133	N	0.004237	D	0.94798	0.8320	M	0.65498	2.005	0.41571	D	0.988682	D	0.89917	1.0	D	0.87578	0.998	D	0.94949	0.8098	10	0.59425	D	0.04	-25.9408	18.2385	0.89958	0.0:1.0:0.0:0.0	.	826	Q86UK5	LBN_HUMAN	Q	826;746;826	ENSP00000339954:R826Q;ENSP00000311683:R746Q;ENSP00000342144:R826Q	ENSP00000311683:R746Q	R	-	2	0	EVC2	5675189	0.989000	0.36119	0.456000	0.27044	0.001000	0.01503	4.404000	0.59735	2.549000	0.85964	0.462000	0.41574	CGA		0.622	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
CRMP1	1400	hgsc.bcm.edu	37	4	5830297	5830297	+	Silent	SNP	G	G	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr4:5830297G>A	ENST00000397890.2	-	12	1594	c.1380C>T	c.(1378-1380)aaC>aaT	p.N460N	EVC_ENST00000382674.2_3'UTR|CRMP1_ENST00000512574.1_Silent_p.N458N|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Silent_p.N574N	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	460					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.N574N(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCTTGTTGACGTTGATGTTTC	0.567																																					p.N460N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1380T	4						.						165.0	113.0	131.0					4																	5830297		2203	4300	6503	5881198	SO:0001819	synonymous_variant	1400	exon12			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1380C>T	4.37:g.5830297G>A			5881198	NM_001313	A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	ENST00000397890.2	37	CCDS43207.1																																																																																				0.567	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313	
NCAPG	64151	hgsc.bcm.edu	37	4	17842311	17842311	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr4:17842311A>T	ENST00000251496.2	+	19	3025	c.2849A>T	c.(2848-2850)aAc>aTc	p.N950I		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	950					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N950I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		CTAAAGACTAACAGAGGTAGT	0.318																																					p.N950I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2849T	4						.						65.0	68.0	67.0					4																	17842311		2203	4300	6503	17451409	SO:0001583	missense	64151	exon19			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2849A>T	4.37:g.17842311A>T	ENSP00000251496:p.Asn950Ile		17451409	NM_022346	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	A	8.936	0.964524	0.18583	.	.	ENSG00000109805	ENST00000251496	T	0.30714	1.52	5.14	0.897	0.19258	.	1.162820	0.05994	N	0.646488	T	0.26846	0.0657	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27502	-1.0072	10	0.36615	T	0.2	-0.1279	4.9908	0.14213	0.5064:0.1688:0.0:0.3248	.	950	Q9BPX3	CND3_HUMAN	I	950	ENSP00000251496:N950I	ENSP00000251496:N950I	N	+	2	0	NCAPG	17451409	0.096000	0.21769	0.267000	0.24556	0.757000	0.42996	0.600000	0.24104	0.338000	0.23692	0.260000	0.18958	AAC		0.318	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346	
NFKB1	4790	hgsc.bcm.edu	37	4	103514644	103514644	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr4:103514644G>A	ENST00000505458.1	+	12	1403	c.1126G>A	c.(1126-1128)Ggt>Agt	p.G376S	NFKB1_ENST00000226574.4_Missense_Mutation_p.G377S|NFKB1_ENST00000600343.1_Missense_Mutation_p.G196S|NFKB1_ENST00000394820.4_Missense_Mutation_p.G376S			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	376	GRR.|Gly-rich.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.G377S(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TAGTTTCGGCGGTGGTAGTGG	0.478																																					p.G376S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1126A	4						.						131.0	143.0	139.0					4																	103514644		2203	4300	6503	103733682	SO:0001583	missense	4790	exon12			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1126G>A	4.37:g.103514644G>A	ENSP00000424790:p.Gly376Ser		103733682	NM_001165412	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268853	0.40095	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458;ENST00000508584	T;T;T;T	0.76316	1.7;1.7;1.7;-1.01	4.74	4.74	0.60224	Immunoglobulin E-set (1);	0.146968	0.42420	D	0.000710	T	0.79816	0.4511	L	0.59436	1.845	0.47621	D	0.999478	D;B;P	0.60160	0.987;0.083;0.705	P;B;B	0.48334	0.574;0.017;0.116	T	0.82323	-0.0514	10	0.52906	T	0.07	.	17.7398	0.88404	0.0:0.0:1.0:0.0	.	196;376;377	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	S	377;376;376;170	ENSP00000226574:G377S;ENSP00000378297:G376S;ENSP00000424790:G376S;ENSP00000424815:G170S	ENSP00000226574:G377S	G	+	1	0	NFKB1	103733682	1.000000	0.71417	0.105000	0.21289	0.145000	0.21501	8.042000	0.89430	2.165000	0.68154	0.462000	0.41574	GGT		0.478	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1		
TMEM215	401498	hgsc.bcm.edu	37	9	32784370	32784370	+	Silent	SNP	C	C	T			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr9:32784370C>T	ENST00000342743.5	+	2	554	c.189C>T	c.(187-189)acC>acT	p.T63T		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	63						integral component of membrane (GO:0016021)		p.T63T(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CCAGGAAAACCGAGGGATGCA	0.597																																					p.T63T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C189T	9						.						82.0	73.0	76.0					9																	32784370		2203	4300	6503	32774370	SO:0001819	synonymous_variant	401498	exon2				CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.189C>T	9.37:g.32784370C>T			32774370	NM_212558	Q6ZUU2	Silent	SNP	ENST00000342743.5	37	CCDS6530.1																																																																																				0.597	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558	
FRMPD2	143162	hgsc.bcm.edu	37	10	49400782	49400782	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr10:49400782C>A	ENST00000374201.3	-	16	2412	c.2110G>T	c.(2110-2112)Gat>Tat	p.D704Y	FRMPD2_ENST00000407470.4_Missense_Mutation_p.D672Y|FRMPD2_ENST00000305531.3_Missense_Mutation_p.D679Y	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	704					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.D704Y(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TTGAAGTTATCCATTGATGTA	0.522																																					p.D704Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2110T	10						.						103.0	78.0	86.0					10																	49400782		2203	4300	6503	49070788	SO:0001583	missense	143162	exon16			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2110G>T	10.37:g.49400782C>A	ENSP00000363317:p.Asp704Tyr		49070788	NM_001018071	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.776088	0.49786	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.64803	-0.06;-0.11;-0.12	5.01	5.01	0.66863	.	.	.	.	.	T	0.68118	0.2966	L	0.27053	0.805	0.42205	D	0.991781	D;D;D	0.76494	0.999;0.958;0.999	D;P;D	0.68483	0.958;0.656;0.958	T	0.72740	-0.4202	9	0.87932	D	0	.	15.8381	0.78814	0.0:1.0:0.0:0.0	.	679;704;672	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	Y	704;679;672	ENSP00000363317:D704Y;ENSP00000307079:D679Y;ENSP00000384339:D672Y	ENSP00000307079:D679Y	D	-	1	0	FRMPD2	49070788	1.000000	0.71417	0.970000	0.41538	0.160000	0.22226	4.527000	0.60573	2.495000	0.84180	0.655000	0.94253	GAT		0.522	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	
TUBGCP2	10844	hgsc.bcm.edu	37	10	135103368	135103368	+	Silent	SNP	C	C	T	rs369343734		TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr10:135103368C>T	ENST00000252936.3	-	8	1359	c.1320G>A	c.(1318-1320)ccG>ccA	p.P440P	TUBGCP2_ENST00000543663.1_Silent_p.P468P|TUBGCP2_ENST00000417178.2_Silent_p.P310P|TUBGCP2_ENST00000368563.2_Silent_p.P440P|TUBGCP2_ENST00000368562.1_Silent_p.P33P			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	440					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.P440P(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GCAGGAAGGACGGGATCTGCT	0.607																																					p.P440P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1320A	10						.	C		0,4406		0,0,2203	262.0	162.0	196.0		1320	-9.1	0.3	10		196	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TUBGCP2	NM_006659.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		440/903	135103368	1,13005	2203	4300	6503	134953358	SO:0001819	synonymous_variant	10844	exon9			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1320G>A	10.37:g.135103368C>T			134953358	NM_006659	B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	CCDS7676.1																																																																																				0.607	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1		
APC	324	hgsc.bcm.edu	37	5	112173917	112173917	+	Nonsense_Mutation	SNP	C	C	T	rs121913333		TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr5:112173917C>T	ENST00000457016.1	+	16	3006	c.2626C>T	c.(2626-2628)Cga>Tga	p.R876*	APC_ENST00000257430.4_Nonsense_Mutation_p.R876*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.R876*			P25054	APC_HUMAN	adenomatous polyposis coli	876	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R876*(38)|p.S874_R876>*(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTCTTCAAAGCGAGGTTTGCA	0.463		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R858X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,NS,Substitution - Nonsense,0	.	40	Substitution - Nonsense(38)|Unknown(1)|Complex - deletion inframe(1)	large_intestine(37)|lung(1)|breast(1)|skin(1)	c.C2572T	5	GRCh37	CM942020	APC	M	rs121913333	.						70.0	72.0	71.0					5																	112173917		2202	4300	6502	112201816	SO:0001587	stop_gained	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2626C>T	5.37:g.112173917C>T	ENSP00000413133:p.Arg876*		112201816	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	37	6.588996	0.97688	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.92	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2738	14.8639	0.70401	0.3912:0.6088:0.0:0.0	.	.	.	.	X	876;858;876;876;876	.	ENSP00000257430:R876X	R	+	1	2	APC	112201816	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.385000	0.34408	0.785000	0.33685	0.557000	0.71058	CGA		0.463	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
LMNB1	4001	hgsc.bcm.edu	37	5	126140573	126140573	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr5:126140573C>G	ENST00000261366.5	+	2	826	c.465C>G	c.(463-465)gaC>gaG	p.D155E	LMNB1_ENST00000395354.1_Missense_Mutation_p.D155E|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	155	Coil 1B.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)	p.S158fs*30(1)|p.D155E(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CACTTGGTGACAAAAAAAGTT	0.448																																					p.D155E												.	.	2	Substitution - Missense(1)|Insertion - Frameshift(1)	large_intestine(2)	c.C465G	5						.						83.0	85.0	84.0					5																	126140573		2203	4300	6503	126168472	SO:0001583	missense	4001	exon2			L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.465C>G	5.37:g.126140573C>G	ENSP00000261366:p.Asp155Glu		126168472	NM_005573	B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	ENST00000261366.5	37	CCDS4140.1	.	.	.	.	.	.	.	.	.	.	C	4.738	0.137190	0.09032	.	.	ENSG00000113368	ENST00000261366;ENST00000395354	T;T	0.78364	-1.17;-1.17	5.15	2.32	0.28847	Filament (1);	0.107874	0.64402	D	0.000003	T	0.46112	0.1376	N	0.04063	-0.285	0.49051	D	0.999742	B	0.10296	0.003	B	0.18263	0.021	T	0.40757	-0.9546	10	0.02654	T	1	.	3.7098	0.08416	0.0:0.396:0.1864:0.4175	.	155	P20700	LMNB1_HUMAN	E	155	ENSP00000261366:D155E;ENSP00000378761:D155E	ENSP00000261366:D155E	D	+	3	2	LMNB1	126168472	0.997000	0.39634	0.997000	0.53966	0.997000	0.91878	0.295000	0.19065	0.664000	0.31047	0.655000	0.94253	GAC		0.448	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573	
PCDHB10	56126	hgsc.bcm.edu	37	5	140572828	140572828	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr5:140572828G>A	ENST00000239446.4	+	1	887	c.703G>A	c.(703-705)Gtc>Atc	p.V235I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V235I(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTCTTGGACGTCAATGACAA	0.547																																					p.V235I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G703A	5						.						71.0	74.0	73.0					5																	140572828		2203	4300	6503	140553012	SO:0001583	missense	56126	exon1			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.703G>A	5.37:g.140572828G>A	ENSP00000239446:p.Val235Ile		140553012	NM_018930	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.039465	0.00402	.	.	ENSG00000120324	ENST00000239446	T	0.01767	4.65	3.41	-6.82	0.01698	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.01061	0.0035	N	0.17564	0.495	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.48490	-0.9031	9	0.02654	T	1	.	11.6431	0.51244	0.2507:0.0:0.6401:0.1092	.	235	Q9UN67	PCDBA_HUMAN	I	235	ENSP00000239446:V235I	ENSP00000239446:V235I	V	+	1	0	PCDHB10	140553012	0.000000	0.05858	0.024000	0.17045	0.693000	0.40251	-1.739000	0.01840	-2.011000	0.00952	-0.378000	0.06908	GTC		0.547	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
SCGB3A2	117156	hgsc.bcm.edu	37	5	147261173	147261173	+	Silent	SNP	C	C	T			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr5:147261173C>T	ENST00000296694.4	+	2	313	c.220C>T	c.(220-222)Ctg>Ttg	p.L74L	C5orf46_ENST00000510432.1_Intron|SCGB3A2_ENST00000504320.1_Silent_p.L29L|SCGB3A2_ENST00000514688.1_3'UTR	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2	74						endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)		p.L74L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTAAATGAGCTGGGACCAGA	0.483																																					p.L74L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C220T	5						.						79.0	76.0	77.0					5																	147261173		2203	4300	6503	147241366	SO:0001819	synonymous_variant	117156	exon2			AF313455	CCDS4287.1	5q32	2011-12-14			ENSG00000164265	ENSG00000164265		"""Secretoglobins"""	18391	protein-coding gene	gene with protein product	"""uteroglobin-related protein 1"", ""pneumo secretory protein 1"", ""uteroglobin related protein 1"""	606531				11682631, 22155607	Standard	NM_054023		Approved	UGRP1, LU103, PNSP1	uc003lot.2	Q96PL1	OTTHUMG00000129729	ENST00000296694.4:c.220C>T	5.37:g.147261173C>T			147241366	NM_054023		Silent	SNP	ENST00000296694.4	37	CCDS4287.1																																																																																				0.483	SCGB3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251939.1	NM_054023	
PDE6A	5145	hgsc.bcm.edu	37	5	149310683	149310683	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr5:149310683C>T	ENST00000255266.5	-	4	885	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	256	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.E256K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	AACTGTCGTTCGATGTCCGTA	0.438																																					p.E256K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G766A	5						.						157.0	127.0	137.0					5																	149310683		2203	4300	6503	149290876	SO:0001583	missense	5145	exon4				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.766G>A	5.37:g.149310683C>T	ENSP00000255266:p.Glu256Lys		149290876	NM_000440	Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025753	0.93518	.	.	ENSG00000132915	ENST00000255266	T	0.72725	-0.68	5.05	5.05	0.67936	GAF (2);	0.000000	0.85682	D	0.000000	D	0.85784	0.5777	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88363	0.2989	10	0.72032	D	0.01	.	15.909	0.79456	0.0:1.0:0.0:0.0	.	256	P16499	PDE6A_HUMAN	K	256	ENSP00000255266:E256K	ENSP00000255266:E256K	E	-	1	0	PDE6A	149290876	1.000000	0.71417	0.931000	0.37212	0.692000	0.40212	5.530000	0.67141	2.354000	0.79902	0.591000	0.81541	GAA		0.438	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2		
ADAMTS12	81792	hgsc.bcm.edu	37	5	33549387	33549387	+	Silent	SNP	G	G	A	rs61748195	byFrequency	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr5:33549387G>A	ENST00000504830.1	-	21	4562	c.4227C>T	c.(4225-4227)gcC>gcT	p.A1409A	ADAMTS12_ENST00000352040.3_Silent_p.A1324A	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1409	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A1409A(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAGGAATGCCGGCCAGGAACT	0.612										HNSCC(64;0.19)			G|||	219	0.04373	0.0189	0.0519	5008	,	,		18823	0.0		0.1093	False		,,,				2504	0.0491				p.A1409A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4227T	5						.	G		143,4263	102.1+/-140.7	0,143,2060	72.0	76.0	75.0		4227	-10.7	0.0	5	dbSNP_129	75	1015,7585	217.4+/-256.1	52,911,3337	no	coding-synonymous	ADAMTS12	NM_030955.2		52,1054,5397	AA,AG,GG		11.8023,3.2456,8.9036		1409/1595	33549387	1158,11848	2203	4300	6503	33585144	SO:0001819	synonymous_variant	81792	exon21			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4227C>T	5.37:g.33549387G>A			33585144	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	CCDS34140.1																																																																																				0.612	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
CARD6	84674	hgsc.bcm.edu	37	5	40854524	40854524	+	Silent	SNP	G	G	A			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr5:40854524G>A	ENST00000254691.5	+	3	3289	c.3090G>A	c.(3088-3090)ggG>ggA	p.G1030G	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	1030					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.G1030G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAAAAGCAGGGCAGAAGAGGG	0.493																																					p.G1030G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3090A	5						.						144.0	149.0	147.0					5																	40854524		2203	4300	6503	40890281	SO:0001819	synonymous_variant	84674	exon3			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.3090G>A	5.37:g.40854524G>A			40890281	NM_032587	Q52LR2	Silent	SNP	ENST00000254691.5	37	CCDS3935.1																																																																																				0.493	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3		
MAP1B	4131	hgsc.bcm.edu	37	5	71493160	71493160	+	Silent	SNP	C	C	T	rs527645028	byFrequency	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr5:71493160C>T	ENST00000296755.7	+	5	4276	c.3978C>T	c.(3976-3978)tcC>tcT	p.S1326S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1326					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.S1326S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATCTCAGTCCGTGACTGGCA	0.493													C|||	2	0.000399361	0.0	0.0	5008	,	,		21508	0.0		0.0	False		,,,				2504	0.002				p.S1326S	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3978T	5						.						63.0	59.0	60.0					5																	71493160		2203	4300	6503	71528916	SO:0001819	synonymous_variant	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3978C>T	5.37:g.71493160C>T			71528916	NM_005909	A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																				0.493	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
GABRG2	2566	hgsc.bcm.edu	37	5	161569181	161569181	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3561-01A-01W-0831-10	TCGA-AA-3561-10A-01W-0831-10	g.chr5:161569181G>T	ENST00000361925.4	+	7	1001	c.781G>T	c.(781-783)Gtc>Ttc	p.V261F	GABRG2_ENST00000393933.4_Missense_Mutation_p.V166F|GABRG2_ENST00000356592.3_Missense_Mutation_p.V261F|GABRG2_ENST00000414552.2_Missense_Mutation_p.V301F			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	261					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|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)	p.V261F(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	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)|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)	AGATTATGTGGTCATGTCTGT	0.403																																					p.V261F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G781T	5						.						299.0	269.0	279.0					5																	161569181		2203	4300	6503	161501759	SO:0001583	missense	2566	exon7				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.781G>T	5.37:g.161569181G>T	ENSP00000354651:p.Val261Phe		161501759	NM_198904	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535658	0.85812	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.79352	-1.26;-1.15;-1.26;-1.26;-1.26	5.87	5.0	0.66597	Neurotransmitter-gated ion-channel ligand-binding (3);	0.053480	0.85682	D	0.000000	D	0.88851	0.6549	M	0.87180	2.865	0.80722	D	1	D;D;D	0.61080	0.989;0.976;0.97	D;D;D	0.69654	0.965;0.952;0.92	D	0.90811	0.4701	10	0.87932	D	0	.	14.7436	0.69474	0.0689:0.0:0.9311:0.0	.	301;261;261	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	F	261;301;261;166;166	ENSP00000349000:V261F;ENSP00000410732:V301F;ENSP00000354651:V261F;ENSP00000377510:V166F;ENSP00000430182:V166F	ENSP00000349000:V261F	V	+	1	0	GABRG2	161501759	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.569000	0.60865	1.491000	0.48482	0.655000	0.94253	GTC		0.403	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
