#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
ACE2	59272	hgsc.bcm.edu	37	X	15585936	15585936	+	Missense_Mutation	SNP	T	T	A			TCGA-36-1570-01	TCGA-36-1570-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chrX:15585936T>A	ENST00000252519.3	-	15	2012	c.1910A>T	c.(1909-1911)gAc>gTc	p.D637V	ACE2_ENST00000471548.1_5'Flank|ACE2_ENST00000427411.1_Missense_Mutation_p.D637V			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	637					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.D637V(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	CATTTCATTGTCGTTCCATTC	0.343																																																1	Substitution - Missense(1)	ovary(1)	X											87.0	80.0	82.0					X																	15585936		2203	4300	6503	15495857	SO:0001583	missense	59272			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1910A>T	X.37:g.15585936T>A	ENSP00000252519:p.Asp637Val	Somatic		Capture	SOLID	Phase_III	15495857	C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	CCDS14169.1	SNP	58	Baylor	.	.	.	.	.	.	.	.	.	.	T	8.726	0.915595	0.17907	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	D;D	0.87809	-2.3;-2.3	5.5	5.5	0.81552	.	0.431501	0.25854	N	0.027862	D	0.87861	0.6284	M	0.80183	2.485	0.42253	D	0.991987	P	0.34587	0.458	B	0.38378	0.272	D	0.87784	0.2614	10	0.56958	D	0.05	-13.8357	10.244	0.43330	0.0:0.0:0.2964:0.7036	.	637	Q9BYF1	ACE2_HUMAN	V	637	ENSP00000252519:D637V;ENSP00000389326:D637V	ENSP00000252519:D637V	D	-	2	0	ACE2	15495857	0.560000	0.26570	0.953000	0.39169	0.046000	0.14306	0.100000	0.15231	1.830000	0.53286	0.417000	0.27973	GAC		0.343	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			Missense_Mutation
ALDH1L1	10840	hgsc.bcm.edu	37	3	125872285	125872285	+	Splice_Site	SNP	A	A	T			TCGA-36-1570-01	TCGA-36-1570-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr3:125872285A>T	ENST00000393434.2	-	7	1208		c.e7+1		ALDH1L1_ENST00000472186.1_Splice_Site|ALDH1L1_ENST00000452905.2_Splice_Site|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.V112E|ALDH1L1_ENST00000273450.3_Splice_Site|ALDH1L1_ENST00000413612.1_Splice_Site|ALDH1L1_ENST00000393431.2_Splice_Site	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1						10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCGTGCCCTTACCATTTTGTC	0.582																																																1	Unknown(1)	ovary(1)	3											97.0	94.0	95.0					3																	125872285		2203	4300	6503	127354975	SO:0001630	splice_region_variant	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.858+1T>A	3.37:g.125872285A>T		Somatic		Capture	SOLID	Phase_III	127354975	B4DG36|E9PBX3|Q68CS1	Splice_Site_SNP	SNP	ENST00000393434.2	37	CCDS3034.1	SNP	14	Baylor	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.63|18.63	3.665984|3.665984	0.67700|0.67700	.|.	.|.	ENSG00000144908|ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431|ENST00000455064	.|T	.|0.51574	.|0.7	4.25|4.25	4.25|4.25	0.50352|0.50352	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65249	.|0.2673	.|.	.|.	.|.	0.49687|0.49687	D|D	0.999816|0.999816	.|D;D	.|0.76494	.|0.999;0.993	.|D;D	.|0.73708	.|0.981;0.935	.|T	.|0.67292	.|-0.5707	.|8	.|0.49607	.|T	.|0.09	.|.	11.3371|11.3371	0.49511|0.49511	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|112;192	.|B4DGC8;Q9UFA9	.|.;.	.|E	-1|112	.|ENSP00000414126:V112E	.|ENSP00000414126:V112E	.|V	-|-	.|2	.|0	ALDH1L1|ALDH1L1	127354975|127354975	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.879000|0.879000	0.50718|0.50718	8.389000|8.389000	0.90172|0.90172	1.777000|1.777000	0.52277|0.52277	0.383000|0.383000	0.25322|0.25322	.|GTA		0.582	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190	Intron	Splice_Site_SNP
AMOT	154796	hgsc.bcm.edu	37	X	112021863	112021863	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1570-01	TCGA-36-1570-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chrX:112021863C>G	ENST00000524145.1	-	12	3261	c.3187G>C	c.(3187-3189)Gaa>Caa	p.E1063Q	AMOT_ENST00000371959.3_Missense_Mutation_p.E1063Q|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371962.1_Missense_Mutation_p.E831Q|AMOT_ENST00000304758.1_Missense_Mutation_p.E654Q			Q4VCS5	AMOT_HUMAN	angiomotin	1063					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.E654Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GTTTTTCTTTCCAGAGTATTG	0.423																																																1	Substitution - Missense(1)	ovary(1)	X											198.0	182.0	187.0					X																	112021863		2203	4300	6503	111908519	SO:0001583	missense	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.3187G>C	X.37:g.112021863C>G	ENSP00000429013:p.Glu1063Gln	Somatic		Capture	SOLID	Phase_III	111908519	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	CCDS48154.1	SNP	30	Baylor	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433613	0.62955	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145	T;T;T;T	0.28895	1.59;1.65;1.89;1.65	6.01	6.01	0.97437	.	0.063074	0.64402	N	0.000019	T	0.36138	0.0956	N	0.19112	0.55	0.41368	D	0.987474	D	0.71674	0.998	P	0.59761	0.863	T	0.07366	-1.0776	10	0.15499	T	0.54	-2.7642	18.235	0.89947	0.0:1.0:0.0:0.0	.	1063	Q4VCS5	AMOT_HUMAN	Q	654;1063;831;1063	ENSP00000305557:E654Q;ENSP00000361027:E1063Q;ENSP00000361030:E831Q;ENSP00000429013:E1063Q	ENSP00000305557:E654Q	E	-	1	0	AMOT	111908519	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.725000	0.74752	2.531000	0.85337	0.600000	0.82982	GAA		0.423	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		Missense_Mutation
AOX1	316	hgsc.bcm.edu	37	2	201507524	201507524	+	Splice_Site	SNP	G	G	T			TCGA-36-1570-01	TCGA-36-1570-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr2:201507524G>T	ENST00000374700.2	+	25	3088	c.2847G>T	c.(2845-2847)aaG>aaT	p.K949N	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	949					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.K949N(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCCCTGAGAAGGTAATACTAA	0.502																																																1	Substitution - Missense(1)	ovary(1)	2											63.0	61.0	61.0					2																	201507524		2203	4300	6503	201215769	SO:0001630	splice_region_variant	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2847+1G>T	2.37:g.201507524G>T		Somatic		Capture	SOLID	Phase_III	201215769	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	SNP	35	Baylor	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685438	0.88639	.	.	ENSG00000138356	ENST00000374700	T	0.45276	0.9	5.17	5.17	0.71159	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.327832	0.36815	N	0.002396	T	0.57388	0.2050	M	0.78916	2.43	0.80722	D	1	B	0.25719	0.132	B	0.39935	0.314	T	0.60816	-0.7188	10	0.72032	D	0.01	-21.2903	18.8573	0.92257	0.0:0.0:1.0:0.0	.	949	Q06278	ADO_HUMAN	N	949	ENSP00000363832:K949N	ENSP00000363832:K949N	K	+	3	2	AOX1	201215769	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	7.411000	0.80078	2.695000	0.91970	0.549000	0.68633	AAG		0.502	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	Missense_Mutation	Missense_Mutation
APBB3	10307	hgsc.bcm.edu	37	5	139941750	139941750	+	Silent	SNP	G	G	A			TCGA-36-1570-01	TCGA-36-1570-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr5:139941750G>A	ENST00000357560.4	-	6	1004	c.561C>T	c.(559-561)caC>caT	p.H187H	APBB3_ENST00000511201.2_Silent_p.H187H|APBB3_ENST00000354402.5_Silent_p.H187H|APBB3_ENST00000412920.3_Silent_p.H187H|SLC35A4_ENST00000514199.1_5'Flank|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000358580.5_Silent_p.H187H|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000356738.2_Silent_p.H187H	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	187	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H187H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCAGACTGTGGTCCAGGG	0.582																																																1	Substitution - coding silent(1)	ovary(1)	5											87.0	79.0	81.0					5																	139941750		2203	4300	6503	139921934	SO:0001819	synonymous_variant	10307			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.561C>T	5.37:g.139941750G>A		Somatic		Capture	SOLID	Phase_III	139921934	B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Silent	SNP	ENST00000357560.4	37	CCDS4229.1	SNP	48	Baylor																																																																																				0.582	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		Silent
BST2	684	hgsc.bcm.edu	37	19	17516374	17516374	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1570-01	TCGA-36-1570-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr19:17516374G>A	ENST00000252593.6	-	1	83	c.11C>T	c.(10-12)aCt>aTt	p.T4I	CTD-2521M24.9_ENST00000500836.2_lincRNA|BST2_ENST00000527220.1_5'Flank	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	4					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of plasmacytoid dendritic cell cytokine production (GO:0002737)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of actin cytoskeleton organization (GO:0032956)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metalloendopeptidase inhibitor activity (GO:0008191)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.T4I(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						GTCATACGAAGTAGATGCCAT	0.517																																																1	Substitution - Missense(1)	ovary(1)	19											104.0	90.0	95.0					19																	17516374		2203	4300	6503	17377374	SO:0001583	missense	684				CCDS12358.1	19p13.2	2009-10-30				ENSG00000130303		"""CD molecules"""	1119	protein-coding gene	gene with protein product		600534				7607676	Standard	NM_004335		Approved	CD317, tetherin	uc002ngl.3	Q10589		ENST00000252593.6:c.11C>T	19.37:g.17516374G>A	ENSP00000252593:p.Thr4Ile	Somatic		Capture	SOLID	Phase_III	17377374	A8K4Y4|Q53G07	Missense_Mutation	SNP	ENST00000252593.6	37	CCDS12358.1	SNP	36	Baylor	.	.	.	.	.	.	.	.	.	.	G	4.885	0.164442	0.09287	.	.	ENSG00000130303	ENST00000416178;ENST00000252593	T	0.53857	0.6	2.89	0.649	0.17806	.	0.906609	0.08949	N	0.870446	T	0.37945	0.1022	L	0.34521	1.04	0.09310	N	1	B	0.16603	0.018	B	0.16722	0.016	T	0.26360	-1.0105	10	0.25751	T	0.34	-2.2742	6.5432	0.22392	0.1188:0.1827:0.6984:0.0	.	4	Q10589	BST2_HUMAN	I	4	ENSP00000252593:T4I	ENSP00000252593:T4I	T	-	2	0	BST2	17377374	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	1.127000	0.31357	-0.009000	0.14296	-1.579000	0.00862	ACT		0.517	BST2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387346.1	NM_004335		Missense_Mutation
CCDC84	338657	hgsc.bcm.edu	37	11	118886093	118886093	+	Silent	SNP	A	A	T			TCGA-36-1570-01	TCGA-36-1570-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr11:118886093A>T	ENST00000334418.1	+	10	938	c.882A>T	c.(880-882)gcA>gcT	p.A294A	RPS25_ENST00000528547.1_5'Flank	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	294								p.A294A(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GGACCAGTGCAGGCTGGCTGC	0.532																																																1	Substitution - coding silent(1)	ovary(1)	11											40.0	42.0	42.0					11																	118886093		2200	4294	6494	118391303	SO:0001819	synonymous_variant	338657			AB094093	CCDS8405.1	11q23.3	2006-03-13			ENSG00000186166	ENSG00000186166			30460	protein-coding gene	gene with protein product							Standard	NM_198489		Approved	DLNB14	uc001pul.3	Q86UT8	OTTHUMG00000166348	ENST00000334418.1:c.882A>T	11.37:g.118886093A>T		Somatic		Capture	SOLID	Phase_III	118391303		Silent	SNP	ENST00000334418.1	37	CCDS8405.1	SNP	7	Baylor																																																																																				0.532	CCDC84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389315.1	NM_198489		Silent
CSMD3	114788	hgsc.bcm.edu	37	8	113266531	113266531	+	Missense_Mutation	SNP	T	T	G	rs376050476		TCGA-36-1570-01	TCGA-36-1570-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr8:113266531T>G	ENST00000297405.5	-	63	10305	c.10061A>C	c.(10060-10062)aAc>aCc	p.N3354T	CSMD3_ENST00000343508.3_Missense_Mutation_p.N3314T|CSMD3_ENST00000455883.2_Missense_Mutation_p.N3185T|CSMD3_ENST00000352409.3_Missense_Mutation_p.N3284T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3354	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N3354T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACACCTGGGTTTTCACAAGA	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8						T	THR/ASN,THR/ASN,THR/ASN	0,4406		0,0,2203	189.0	189.0	189.0		9554,10061,9941	5.2	1.0	8		189	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	65,65,65	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	3185/3539,3354/3708,3314/3668	113266531	1,13005	2203	4300	6503	113335707	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10061A>C	8.37:g.113266531T>G	ENSP00000297405:p.Asn3354Thr	Somatic		Capture	SOLID	Phase_III	113335707	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	SNP	60	Baylor	.	.	.	.	.	.	.	.	.	.	T	16.86	3.240559	0.58995	0.0	1.16E-4	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.22	5.22	0.72569	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.68997	0.3062	L	0.38692	1.165	0.52099	D	0.999943	D;D;B	0.76494	0.999;0.999;0.178	D;D;B	0.87578	0.972;0.998;0.051	T	0.63625	-0.6595	10	0.16896	T	0.51	.	15.284	0.73814	0.0:0.0:0.0:1.0	.	3185;3354;3314	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	3314;3354;2624;3185;3284	ENSP00000345799:N3314T;ENSP00000297405:N3354T;ENSP00000341558:N2624T;ENSP00000412263:N3185T;ENSP00000343124:N3284T	ENSP00000297405:N3354T	N	-	2	0	CSMD3	113335707	1.000000	0.71417	1.000000	0.80357	0.146000	0.21551	5.683000	0.68189	2.201000	0.70794	0.533000	0.62120	AAC		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		Missense_Mutation
CYP2A7	1549	hgsc.bcm.edu	37	19	41386420	41386420	+	Missense_Mutation	SNP	A	A	C	rs56081734	byFrequency	TCGA-36-1570-01	TCGA-36-1570-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr19:41386420A>C	ENST00000301146.4	-	3	998	c.457T>G	c.(457-459)Tcg>Gcg	p.S153A	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.S102A	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	153						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.S153A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGGAAGCCCGACTCCTCCTGG	0.667													.|||	2597	0.51857	0.4228	0.6744	5008	,	,		12641	0.4405		0.5189	False		,,,				2504	0.6176															1	Substitution - Missense(1)	ovary(1)	19						C	ALA/SER,ALA/SER	1911,2495		444,1023,736	49.0	45.0	47.0		457,304	2.2	0.0	19	dbSNP_129	47	4240,4360		1113,2014,1173	yes	missense,missense	CYP2A7	NM_000764.2,NM_030589.2	99,99	1557,3037,1909	CC,CA,AA		49.3023,43.3727,47.2936	benign,benign	153/495,102/444	41386420	6151,6855	2203	4300	6503	46078260	SO:0001583	missense	1549			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.457T>G	19.37:g.41386420A>C	ENSP00000301146:p.Ser153Ala	Somatic		Capture	SOLID	Phase_III	46078260	Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	CCDS12569.1	SNP	10	Baylor	1109	0.5077838827838828	203	0.41260162601626016	247	0.6823204419889503	268	0.46853146853146854	391	0.5158311345646438	N	0.017	-1.508056	0.00984	0.433727	0.493023	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.63744	-0.06;-0.06	2.22	2.22	0.28083	.	0.117066	0.56097	N	0.000023	T	0.00012	0.0000	N	0.00332	-1.63	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.44251	-0.9340	9	0.02654	T	1	.	3.9601	0.09407	0.2379:0.6238:0.0:0.1384	rs56081734;rs58855145	153;102;153	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	A	153;102	ENSP00000301146:S153A;ENSP00000291764:S102A	ENSP00000291764:S102A	S	-	1	0	CYP2A7	46078260	0.060000	0.20803	0.008000	0.14137	0.004000	0.04260	0.384000	0.20668	0.260000	0.21731	-1.043000	0.02367	TCG		0.667	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		Missense_Mutation
DUOX1	53905	hgsc.bcm.edu	37	15	45434297	45434297	+	Silent	SNP	T	T	C			TCGA-36-1570-01	TCGA-36-1570-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr15:45434297T>C	ENST00000321429.4	+	16	2216	c.1809T>C	c.(1807-1809)tgT>tgC	p.C603C	DUOX1_ENST00000561166.1_Silent_p.C249C|DUOX1_ENST00000389037.3_Silent_p.C603C	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	603					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.C603C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GGACCCTCTGTTGCTTCCCTT	0.542																																																1	Substitution - coding silent(1)	ovary(1)	15											115.0	110.0	112.0					15																	45434297		2198	4298	6496	43221589	SO:0001819	synonymous_variant	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1809T>C	15.37:g.45434297T>C		Somatic		Capture	SOLID	Phase_III	43221589	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	CCDS32221.1	SNP	60	Baylor																																																																																				0.542	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		Silent
FAM83B	222584	hgsc.bcm.edu	37	6	54735464	54735464	+	Silent	SNP	G	G	A			TCGA-36-1570-01	TCGA-36-1570-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr6:54735464G>A	ENST00000306858.7	+	2	536	c.420G>A	c.(418-420)cgG>cgA	p.R140R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	140								p.R140R(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAACTATTCGGAAGATGATAA	0.353																																																1	Substitution - coding silent(1)	ovary(1)	6											44.0	46.0	46.0					6																	54735464		2203	4299	6502	54843423	SO:0001819	synonymous_variant	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.420G>A	6.37:g.54735464G>A		Somatic		Capture	SOLID	Phase_III	54843423	Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	CCDS34479.1	SNP	41	Baylor																																																																																				0.353	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		Silent
FBLN7	129804	hgsc.bcm.edu	37	2	112944983	112944983	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1570-01	TCGA-36-1570-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr2:112944983C>T	ENST00000331203.2	+	8	1491	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	FBLN7_ENST00000409667.3_Missense_Mutation_p.T273M|FBLN7_ENST00000409903.1_Missense_Mutation_p.R323C|FBLN7_ENST00000409450.3_Missense_Mutation_p.T361M	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	407					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.T407M(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGCCTCAGACGCTGGAGGTG	0.592																																																1	Substitution - Missense(1)	ovary(1)	2											109.0	103.0	105.0					2																	112944983		2203	4300	6503	112661454	SO:0001583	missense	129804				CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.1220C>T	2.37:g.112944983C>T	ENSP00000331411:p.Thr407Met	Somatic		Capture	SOLID	Phase_III	112661454	A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	CCDS2095.1	SNP	19	Baylor	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.14|19.14	3.770265|3.770265	0.69992|0.69992	.|.	.|.	ENSG00000144152|ENSG00000144152	ENST00000409903|ENST00000331203;ENST00000409667;ENST00000409450;ENST00000272559	T|T;T;T;T	0.81163|0.47528	-1.46|0.84;0.84;0.84;0.84	5.15|5.15	4.26|4.26	0.50523|0.50523	.|.	.|0.237694	.|0.42964	.|D	.|0.000625	T|T	0.51024|0.51024	0.1650|0.1650	L|L	0.44542|0.44542	1.39|1.39	0.33592|0.33592	D|D	0.601161|0.601161	B|D;D;D	0.06786|0.64830	0.001|0.992;0.994;0.989	B|P;P;P	0.04013|0.56278	0.001|0.736;0.795;0.723	T|T	0.63550|0.63550	-0.6612|-0.6612	9|10	0.54805|0.56958	T|D	0.06|0.05	-16.0241|-16.0241	9.4522|9.4522	0.38734|0.38734	0.0:0.8418:0.0:0.1582|0.0:0.8418:0.0:0.1582	.|.	323|273;361;407	B8ZZC1|Q53RD9-4;Q53RD9-2;Q53RD9	.|.;.;FBLN7_HUMAN	C|M	323|407;273;361;229	ENSP00000386295:R323C|ENSP00000331411:T407M;ENSP00000386822:T273M;ENSP00000387000:T361M;ENSP00000272559:T229M	ENSP00000386295:R323C|ENSP00000272559:T229M	R|T	+|+	1|2	0|0	FBLN7|FBLN7	112661454|112661454	0.997000|0.997000	0.39634|0.39634	0.978000|0.978000	0.43139|0.43139	0.967000|0.967000	0.64934|0.64934	3.540000|3.540000	0.53611|0.53611	2.392000|2.392000	0.81423|0.81423	0.555000|0.555000	0.69702|0.69702	CGC|ACG		0.592	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		Missense_Mutation
GP2	2813	hgsc.bcm.edu	37	16	20335530	20335530	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1570-01	TCGA-36-1570-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr16:20335530C>G	ENST00000381362.4	-	3	219	c.143G>C	c.(142-144)tGc>tCc	p.C48S	GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Missense_Mutation_p.C48S|GP2_ENST00000573897.1_5'Flank|GP2_ENST00000381360.5_Intron	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	48					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.C48S(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						AGGAGCTCCGCAGTCCAGGTC	0.542																																																1	Substitution - Missense(1)	ovary(1)	16											48.0	46.0	47.0					16																	20335530		2203	4300	6503	20243031	SO:0001583	missense	2813			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.143G>C	16.37:g.20335530C>G	ENSP00000370767:p.Cys48Ser	Somatic		Capture	SOLID	Phase_III	20243031	A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	CCDS42128.1	SNP	25	Baylor	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470952	0.43942	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.99537	-6.11;-6.11	4.44	4.44	0.53790	.	.	.	.	.	D	0.99480	0.9815	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.87578	0.998;0.849	D	0.98143	1.0437	9	0.72032	D	0.01	-7.7968	14.6232	0.68602	0.0:1.0:0.0:0.0	.	48;48	P55259-3;P55259	.;GP2_HUMAN	S	48	ENSP00000304044:C48S;ENSP00000370767:C48S	ENSP00000304044:C48S	C	-	2	0	GP2	20243031	0.964000	0.33143	0.030000	0.17652	0.004000	0.04260	4.416000	0.59815	2.276000	0.75962	0.609000	0.83330	TGC		0.542	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		Missense_Mutation
HSPG2	3339	hgsc.bcm.edu	37	1	22213974	22213974	+	Silent	SNP	G	G	C			TCGA-36-1570-01	TCGA-36-1570-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr1:22213974G>C	ENST00000374695.3	-	8	976	c.897C>G	c.(895-897)ccC>ccG	p.P299P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	299	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.P299P(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGTAGTCTCTGGGGATGCAGT	0.692																																																1	Substitution - coding silent(1)	ovary(1)	1											76.0	86.0	83.0					1																	22213974		2203	4300	6503	22086561	SO:0001819	synonymous_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.897C>G	1.37:g.22213974G>C		Somatic		Capture	SOLID	Phase_III	22086561	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	CCDS30625.1	SNP	47	Baylor	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050292	0.36181	.	.	ENSG00000142798	ENST00000412328;ENST00000374673	T;D	0.95949	0.51;-3.86	5.09	1.75	0.24633	.	0.188493	0.26062	N	0.026563	D	0.89884	0.6844	.	.	.	0.80722	D	1	B	0.29590	0.25	B	0.31495	0.131	D	0.83578	0.0116	9	0.26408	T	0.33	.	5.8462	0.18667	0.2012:0.1649:0.6339:0.0	.	222	Q5SZI5	.	R	222;126	ENSP00000405412:P222R;ENSP00000363805:P126R	ENSP00000363805:P126R	P	-	2	0	HSPG2	22086561	0.113000	0.22115	0.999000	0.59377	0.054000	0.15201	0.428000	0.21395	1.152000	0.42452	0.462000	0.41574	CCA		0.692	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		Silent
IRAK2	3656	hgsc.bcm.edu	37	3	10283843	10283843	+	Silent	SNP	G	G	A	rs372186246		TCGA-36-1570-01	TCGA-36-1570-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr3:10283843G>A	ENST00000256458.4	+	13	1899	c.1809G>A	c.(1807-1809)agG>agA	p.R603R		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	603					activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.R603R(1)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AGGCCAAAAGGAAACTGATGG	0.418																																																1	Substitution - coding silent(1)	ovary(1)	3											94.0	95.0	95.0					3																	10283843		2203	4300	6503	10258843	SO:0001819	synonymous_variant	3656			AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.1809G>A	3.37:g.10283843G>A		Somatic		Capture	SOLID	Phase_III	10258843	B4DQZ6|Q08AG6|Q5K546	Silent	SNP	ENST00000256458.4	37	CCDS33697.1	SNP	41	Baylor																																																																																				0.418	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			Silent
MYH1	4619	hgsc.bcm.edu	37	17	10398580	10398580	+	Missense_Mutation	SNP	G	G	T			TCGA-36-1570-01	TCGA-36-1570-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr17:10398580G>T	ENST00000226207.5	-	36	5318	c.5224C>A	c.(5224-5226)Cag>Aag	p.Q1742K	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1742					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q1742K(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATCTCTCCCTGGATTTGGGAA	0.448																																																1	Substitution - Missense(1)	ovary(1)	17											232.0	199.0	210.0					17																	10398580		2203	4300	6503	10339305	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5224C>A	17.37:g.10398580G>T	ENSP00000226207:p.Gln1742Lys	Somatic		Capture	SOLID	Phase_III	10339305	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	SNP	47	Baylor	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994603	0.93167	.	.	ENSG00000109061	ENST00000226207	T	0.77489	-1.1	5.28	5.28	0.74379	Myosin tail (1);	0.000000	0.41194	U	0.000936	D	0.84538	0.5494	M	0.86651	2.83	0.58432	D	0.999998	B	0.27951	0.195	B	0.36922	0.236	D	0.84217	0.0459	10	0.54805	T	0.06	.	19.2728	0.94018	0.0:0.0:1.0:0.0	.	1742	P12882	MYH1_HUMAN	K	1742	ENSP00000226207:Q1742K	ENSP00000226207:Q1742K	Q	-	1	0	MYH1	10339305	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.600000	0.98282	2.618000	0.88619	0.561000	0.74099	CAG		0.448	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		Missense_Mutation
PGAP1	80055	hgsc.bcm.edu	37	2	197708779	197708780	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-36-1570-01	TCGA-36-1570-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr2:197708779_197708780insTA	ENST00000354764.4	-	25	2471_2472	c.2357_2358insTA	c.(2356-2358)agafs	p.R786fs		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	786					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.R786fs*35(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TCTTTTCACTTCTTCTAGAGTG	0.327																																																1	Insertion - Frameshift(1)	ovary(1)	2																																								197417025	SO:0001589	frameshift_variant	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2357_2358insTA	2.37:g.197708779_197708780insTA	ENSP00000346809:p.Arg786fs	Somatic		Capture	SOLID	Phase_III	197417024	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Frame_Shift_Ins	INS	ENST00000354764.4	37	CCDS2318.1	INS	62	Baylor																																																																																				0.327	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		Frame_Shift_Ins
PKD2L1	9033	hgsc.bcm.edu	37	10	102056812	102056812	+	Silent	SNP	C	C	T			TCGA-36-1570-01	TCGA-36-1570-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr10:102056812C>T	ENST00000318222.3	-	6	1492	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	PKD2L1_ENST00000338519.3_Silent_p.E295E|PKD2L1_ENST00000353274.3_Silent_p.E370E	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	370					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.E370E(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GCTCCAGGATCTCTTCCACCA	0.507																																																1	Substitution - coding silent(1)	ovary(1)	10											128.0	113.0	118.0					10																	102056812		2203	4300	6503	102046802	SO:0001819	synonymous_variant	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1110G>A	10.37:g.102056812C>T		Somatic		Capture	SOLID	Phase_III	102046802	O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	CCDS7492.1	SNP	32	Baylor																																																																																				0.507	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		Silent
PNPLA5	150379	hgsc.bcm.edu	37	22	44285693	44285694	+	Frame_Shift_Ins	INS	-	-	G	rs140099101	byFrequency	TCGA-36-1570-01	TCGA-36-1570-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr22:44285693_44285694insG	ENST00000597664.1	-	3	606_607	c.477_478insC	c.(475-480)cccgagfs	p.E160fs	PNPLA5_ENST00000593866.1_Intron|PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000216177.4_Frame_Shift_Ins_p.E160fs			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	160	Patatin.				lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)	p.E160fs*47(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CCTCTGAACTCGGGGGGGATCA	0.574																																																1	Insertion - Frameshift(1)	ovary(1)	22																																								42617027	SO:0001589	frameshift_variant	150379			Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.478dupC	22.37:g.44285700_44285700dupG	ENSP00000471069:p.Glu160fs	Somatic		Capture	SOLID	Phase_III	42617026	B1AHL8|B3KPR1|Q6ZST0	Frame_Shift_Ins	INS	ENST00000597664.1	37		INS	31	Baylor																																																																																				0.574	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814		Frame_Shift_Ins
PSD3	23362	hgsc.bcm.edu	37	8	18413828	18413828	+	Missense_Mutation	SNP	T	T	A			TCGA-36-1570-01	TCGA-36-1570-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr8:18413828T>A	ENST00000327040.8	-	15	2921	c.2819A>T	c.(2818-2820)aAg>aTg	p.K940M	PSD3_ENST00000523619.1_Missense_Mutation_p.K875M|PSD3_ENST00000440756.2_Missense_Mutation_p.K942M|PSD3_ENST00000286485.8_Missense_Mutation_p.K406M|PSD3_ENST00000428502.2_Missense_Mutation_p.K269M	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	941					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.K406M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GGTGATCTGCTTCAGCTTACT	0.463																																																1	Substitution - Missense(1)	ovary(1)	8											184.0	172.0	176.0					8																	18413828		2203	4300	6503	18458108	SO:0001583	missense	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2819A>T	8.37:g.18413828T>A	ENSP00000324127:p.Lys940Met	Somatic		Capture	SOLID	Phase_III	18458108	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	CCDS43720.1	SNP	56	Baylor	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336310	0.60963	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.20598	2.71;2.71;2.06;2.7	5.94	4.78	0.61160	.	0.000000	0.51477	U	0.000099	T	0.36663	0.0975	L	0.54323	1.7	0.45914	D	0.99875	P;P;B;D	0.67145	0.797;0.797;0.115;0.996	B;B;B;D	0.64687	0.309;0.309;0.158;0.928	T	0.08513	-1.0718	10	0.62326	D	0.03	.	9.6033	0.39619	0.0:0.0848:0.0:0.9152	.	940;941;406;269	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	M	940;942;162;406;269;875	ENSP00000324127:K940M;ENSP00000401704:K942M;ENSP00000286485:K406M;ENSP00000430640:K875M	ENSP00000286485:K406M	K	-	2	0	PSD3	18458108	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.664000	0.54525	1.070000	0.40811	0.460000	0.39030	AAG		0.463	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		Missense_Mutation
PTPDC1	138639	hgsc.bcm.edu	37	9	96864018	96864018	+	Silent	SNP	T	T	A			TCGA-36-1570-01	TCGA-36-1570-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr9:96864018T>A	ENST00000375360.3	+	8	2362	c.2022T>A	c.(2020-2022)ctT>ctA	p.L674L	PTPDC1_ENST00000288976.3_Silent_p.L726L|PTPDC1_ENST00000467049.1_3'UTR	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	674					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L726L(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CAGAAGCACTTTTTTTATTAG	0.428																																																1	Substitution - coding silent(1)	ovary(1)	9											87.0	88.0	88.0					9																	96864018		2203	4300	6503	95903839	SO:0001819	synonymous_variant	138639			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.2022T>A	9.37:g.96864018T>A		Somatic		Capture	SOLID	Phase_III	95903839	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Silent	SNP	ENST00000375360.3	37	CCDS6707.1	SNP	64	Baylor																																																																																				0.428	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		Silent
PTPRR	5801	hgsc.bcm.edu	37	12	71054865	71054865	+	Missense_Mutation	SNP	T	T	C			TCGA-36-1570-01	TCGA-36-1570-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr12:71054865T>C	ENST00000283228.2	-	12	2073	c.1621A>G	c.(1621-1623)Acc>Gcc	p.T541A	PTPRR_ENST00000378778.1_Missense_Mutation_p.T335A|PTPRR_ENST00000549308.1_Missense_Mutation_p.T296A|PTPRR_ENST00000440835.2_Missense_Mutation_p.T296A|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000342084.4_Missense_Mutation_p.T429A	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	541	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T541A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ACATGTTGGGTGTGGCTTCCT	0.468																																																1	Substitution - Missense(1)	ovary(1)	12											140.0	93.0	109.0					12																	71054865		2203	4300	6503	69341132	SO:0001583	missense	5801			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1621A>G	12.37:g.71054865T>C	ENSP00000283228:p.Thr541Ala	Somatic		Capture	SOLID	Phase_III	69341132	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	SNP	59	Baylor	.	.	.	.	.	.	.	.	.	.	T	11.85	1.761308	0.31137	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	5.02	3.78	0.43462	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.129193	0.34291	N	0.004087	T	0.73094	0.3543	L	0.39566	1.225	0.37487	D	0.916217	B;B;B	0.16603	0.008;0.008;0.018	B;B;B	0.22152	0.013;0.013;0.038	T	0.68119	-0.5493	10	0.21014	T	0.42	-13.2243	8.3751	0.32438	0.3564:0.0:0.0:0.6436	.	429;335;541	F5GXR7;Q15256-4;Q15256	.;.;PTPRR_HUMAN	A	296;541;335;429;296	ENSP00000391750:T296A;ENSP00000283228:T541A;ENSP00000368054:T335A;ENSP00000339605:T429A;ENSP00000446943:T296A	ENSP00000283228:T541A	T	-	1	0	PTPRR	69341132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.214000	0.58527	2.011000	0.59026	0.528000	0.53228	ACC		0.468	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		Missense_Mutation
RANBP3L	202151	hgsc.bcm.edu	37	5	36301481	36301481	+	Missense_Mutation	SNP	G	G	A	rs369444875		TCGA-36-1570-01	TCGA-36-1570-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr5:36301481G>A	ENST00000296604.3	-	1	523	c.38C>T	c.(37-39)cCt>cTt	p.P13L	RANBP3L_ENST00000515759.1_Missense_Mutation_p.P13L|RANBP3L_ENST00000502994.1_Missense_Mutation_p.P13L	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	13					intracellular transport (GO:0046907)			p.P13L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CAAACTGCCAGGCAGGTGGCT	0.547																																																1	Substitution - Missense(1)	ovary(1)	5						A	LEU/PRO,LEU/PRO	3,4403	825.9+/-416.6	0,3,2200	157.0	146.0	150.0		38,38	3.0	0.0	5		150	0,8600		0,0,4300	no	missense,missense	RANBP3L	NM_145000.3,NM_001161429.1	98,98	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign	13/466,13/491	36301481	3,13003	2203	4300	6503	36337238	SO:0001583	missense	202151			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.38C>T	5.37:g.36301481G>A	ENSP00000296604:p.Pro13Leu	Somatic		Capture	SOLID	Phase_III	36337238	B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	CCDS3918.1	SNP	35	Baylor	.	.	.	.	.	.	.	.	.	.	A	0.407	-0.915301	0.02415	6.81E-4	0.0	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759;ENST00000505865	T;T;T;T	0.41400	2.04;1.98;2.01;1.0	5.49	3.03	0.35002	.	1.426610	0.04460	N	0.374138	T	0.18130	0.0435	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29088	-1.0023	10	0.02654	T	1	8.5623	4.7121	0.12877	0.6691:0.1612:0.1697:0.0	.	13;13	E9PGP9;Q86VV4	.;RNB3L_HUMAN	L	13	ENSP00000296604:P13L;ENSP00000421853:P13L;ENSP00000421149:P13L;ENSP00000427147:P13L	ENSP00000296604:P13L	P	-	2	0	RANBP3L	36337238	0.000000	0.05858	0.009000	0.14445	0.043000	0.13939	0.324000	0.19610	0.112000	0.17975	-0.269000	0.10298	CCT		0.547	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		Missense_Mutation
RANBP6	26953	hgsc.bcm.edu	37	9	6013663	6013663	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1570-01	TCGA-36-1570-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr9:6013663C>G	ENST00000259569.5	-	1	1955	c.1945G>C	c.(1945-1947)Gct>Cct	p.A649P	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	649					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCTAAGAGAGCAACATCAGGT	0.398																																																0			9											109.0	108.0	108.0					9																	6013663		2203	4300	6503	6003663	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1945G>C	9.37:g.6013663C>G	ENSP00000259569:p.Ala649Pro	Somatic		Capture	SOLID	Phase_III	6003663	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	CCDS6467.1	SNP	25	Baylor	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020695	0.54576	.	.	ENSG00000137040	ENST00000259569	T	0.21543	2.0	4.11	3.21	0.36854	Armadillo-like helical (1);Armadillo-type fold (1);	0.056292	0.64402	U	0.000001	T	0.43366	0.1244	M	0.82517	2.595	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68943	0.961;0.961	T	0.33954	-0.9848	10	0.33940	T	0.23	-4.5265	9.6337	0.39795	0.0:0.8969:0.0:0.1031	.	237;649	B4DTX6;O60518	.;RNBP6_HUMAN	P	649	ENSP00000259569:A649P	ENSP00000259569:A649P	A	-	1	0	RANBP6	6003663	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	5.682000	0.68182	1.084000	0.41184	0.650000	0.86243	GCT		0.398	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		Missense_Mutation
RNF10	9921	hgsc.bcm.edu	37	12	121004651	121004651	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1570-01	TCGA-36-1570-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr12:121004651G>A	ENST00000325954.4	+	13	2370	c.1909G>A	c.(1909-1911)Gag>Aag	p.E637K	RNF10_ENST00000413266.2_Missense_Mutation_p.E642K	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	637					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E637K(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATTCCCCTCGAGAATCTACA	0.453																																																1	Substitution - Missense(1)	ovary(1)	12											109.0	108.0	108.0					12																	121004651		2203	4300	6503	119489034	SO:0001583	missense	9921			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1909G>A	12.37:g.121004651G>A	ENSP00000322242:p.Glu637Lys	Somatic		Capture	SOLID	Phase_III	119489034	Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	CCDS9201.1	SNP	37	Baylor	.	.	.	.	.	.	.	.	.	.	G	34	5.326520	0.95708	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000546262;ENST00000540046	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.78	5.78	0.91487	.	0.048945	0.85682	D	0.000000	T	0.48926	0.1527	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.68765	0.96;0.854	T	0.30736	-0.9968	10	0.10902	T	0.67	.	20.0096	0.97446	0.0:0.0:1.0:0.0	.	642;637	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	K	637;637;642;85;181	ENSP00000322242:E637K;ENSP00000415682:E642K;ENSP00000439221:E85K;ENSP00000439859:E181K	ENSP00000322242:E637K	E	+	1	0	RNF10	119489034	1.000000	0.71417	0.971000	0.41717	0.985000	0.73830	8.396000	0.90190	2.727000	0.93392	0.579000	0.79373	GAG		0.453	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			Missense_Mutation
RP1	6101	hgsc.bcm.edu	37	8	55541187	55541187	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1570-01	TCGA-36-1570-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr8:55541187G>A	ENST00000220676.1	+	4	4893	c.4745G>A	c.(4744-4746)tGc>tAc	p.C1582Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1582					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.C1582Y(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTAAAAAAATGCATCAAAAGT	0.408																																					Colon(91;1014 1389 7634 14542 40420)											1	Substitution - Missense(1)	ovary(1)	8											57.0	58.0	58.0					8																	55541187		2203	4300	6503	55703740	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4745G>A	8.37:g.55541187G>A	ENSP00000220676:p.Cys1582Tyr	Somatic		Capture	SOLID	Phase_III	55703740		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	SNP	46	Baylor	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.411418	0.00191	.	.	ENSG00000104237	ENST00000220676	T	0.67345	-0.26	5.74	-0.109	0.13584	.	1.251720	0.05429	N	0.545521	T	0.56062	0.1960	L	0.50333	1.59	0.09310	N	1	B	0.21452	0.056	B	0.17722	0.019	T	0.29058	-1.0024	10	0.19147	T	0.46	10.1173	5.372	0.16144	0.3195:0.2392:0.4413:0.0	.	1582	P56715	RP1_HUMAN	Y	1582	ENSP00000220676:C1582Y	ENSP00000220676:C1582Y	C	+	2	0	RP1	55703740	0.004000	0.15560	0.000000	0.03702	0.004000	0.04260	1.499000	0.35671	0.179000	0.19938	0.655000	0.94253	TGC		0.408	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		Missense_Mutation
SAMD9	54809	hgsc.bcm.edu	37	7	92733255	92733255	+	Missense_Mutation	SNP	T	T	G			TCGA-36-1570-01	TCGA-36-1570-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr7:92733255T>G	ENST00000379958.2	-	3	2425	c.2156A>C	c.(2155-2157)cAa>cCa	p.Q719P		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	719						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.Q719P(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCACAGTTTTGAATCATTGC	0.393																																																1	Substitution - Missense(1)	ovary(1)	7											204.0	199.0	201.0					7																	92733255		2203	4300	6503	92571191	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2156A>C	7.37:g.92733255T>G	ENSP00000369292:p.Gln719Pro	Somatic		Capture	SOLID	Phase_III	92571191	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	SNP	63	Baylor	.	.	.	.	.	.	.	.	.	.	T	4.541	0.100482	0.08731	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.81415	-1.49;-1.49	4.66	4.66	0.58398	.	1.043410	0.07617	N	0.926376	T	0.77068	0.4076	L	0.57536	1.79	0.22552	N	0.998998	P	0.44578	0.838	B	0.38562	0.276	T	0.66452	-0.5920	10	0.44086	T	0.13	.	9.1309	0.36843	0.1636:0.0:0.0:0.8364	.	719	Q5K651	SAMD9_HUMAN	P	719	ENSP00000369292:Q719P;ENSP00000414529:Q719P	ENSP00000369292:Q719P	Q	-	2	0	SAMD9	92571191	0.012000	0.17670	0.868000	0.34077	0.851000	0.48451	0.831000	0.27476	1.959000	0.56917	0.496000	0.49642	CAA		0.393	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		Missense_Mutation
SLC27A2	11001	hgsc.bcm.edu	37	15	50489742	50489742	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1570-01	TCGA-36-1570-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr15:50489742A>G	ENST00000267842.5	+	2	756	c.524A>G	c.(523-525)gAt>gGt	p.D175G	SLC27A2_ENST00000380902.4_Missense_Mutation_p.D175G|SLC27A2_ENST00000544960.1_5'UTR	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	175					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.D175G(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTTAAAAAAGATGATGTGTCC	0.353																																																1	Substitution - Missense(1)	ovary(1)	15											99.0	93.0	95.0					15																	50489742		2196	4295	6491	48277034	SO:0001583	missense	11001			D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.524A>G	15.37:g.50489742A>G	ENSP00000267842:p.Asp175Gly	Somatic		Capture	SOLID	Phase_III	48277034	A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	CCDS10133.1	SNP	12	Baylor	.	.	.	.	.	.	.	.	.	.	A	13.30	2.197523	0.38806	.	.	ENSG00000140284	ENST00000380902;ENST00000267842	T;T	0.48522	0.81;0.81	5.47	5.47	0.80525	AMP-dependent synthetase/ligase (1);	0.358840	0.32301	N	0.006287	T	0.35653	0.0939	N	0.25957	0.775	0.80722	D	1	B;B	0.12013	0.002;0.005	B;B	0.18561	0.008;0.022	T	0.12477	-1.0546	10	0.27785	T	0.31	.	13.4763	0.61310	1.0:0.0:0.0:0.0	.	175;175	Q6PF09;O14975	.;S27A2_HUMAN	G	175	ENSP00000370289:D175G;ENSP00000267842:D175G	ENSP00000267842:D175G	D	+	2	0	SLC27A2	48277034	1.000000	0.71417	0.890000	0.34922	0.994000	0.84299	4.207000	0.58480	2.072000	0.62099	0.496000	0.49642	GAT		0.353	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		Missense_Mutation
SMPDL3B	27293	hgsc.bcm.edu	37	1	28271811	28271811	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1570-01	TCGA-36-1570-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr1:28271811G>A	ENST00000373894.3	+	2	321	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	SMPDL3B_ENST00000373888.4_Missense_Mutation_p.V44M|RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.V44M|SMPDL3B_ENST00000466793.1_3'UTR	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	44					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.V44M(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		CCCCTTCCAGGTGTGCCCATC	0.572																																																1	Substitution - Missense(1)	ovary(1)	1											65.0	62.0	63.0					1																	28271811		2203	4300	6503	28144398	SO:0001583	missense	27293			Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.130G>A	1.37:g.28271811G>A	ENSP00000363001:p.Val44Met	Somatic		Capture	SOLID	Phase_III	28144398	B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	ENST00000373894.3	37	CCDS30655.1	SNP	44	Baylor	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107790	0.37242	.	.	ENSG00000130768	ENST00000373894;ENST00000373890;ENST00000411604;ENST00000373888;ENST00000549094;ENST00000412515	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66	4.82	4.82	0.62117	Metallophosphoesterase domain (1);	0.329460	0.31734	N	0.007143	D	0.88973	0.6583	L	0.31752	0.955	0.30881	N	0.731398	D;D;P	0.58268	0.982;0.972;0.838	P;P;B	0.52598	0.523;0.703;0.414	D	0.87761	0.2598	10	0.41790	T	0.15	-26.3392	14.3239	0.66505	0.0:0.1494:0.8506:0.0	.	44;44;44	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	M	44;74;74;44;44;44	ENSP00000363001:V44M;ENSP00000388092:V74M;ENSP00000362995:V44M;ENSP00000449450:V44M	ENSP00000362995:V44M	V	+	1	0	SMPDL3B	28144398	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	7.101000	0.76997	2.220000	0.72140	0.655000	0.94253	GTG		0.572	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		Missense_Mutation
STK31	56164	hgsc.bcm.edu	37	7	23821124	23821124	+	Silent	SNP	T	T	C			TCGA-36-1570-01	TCGA-36-1570-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr7:23821124T>C	ENST00000355870.3	+	16	2171	c.2052T>C	c.(2050-2052)caT>caC	p.H684H	STK31_ENST00000428484.1_Silent_p.H661H|STK31_ENST00000354639.3_Silent_p.H661H|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.H684H	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	684			H -> R (in dbSNP:rs41273999). {ECO:0000269|PubMed:17344846}.|H -> Y (in a lung neuroendocrine carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.			acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAATTTATCATGAGAGAGAGG	0.318																																																0			7											68.0	75.0	72.0					7																	23821124		2203	4295	6498	23787649	SO:0001819	synonymous_variant	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2052T>C	7.37:g.23821124T>C		Somatic		Capture	SOLID	Phase_III	23787649	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	CCDS5386.1	SNP	51	Baylor																																																																																				0.318	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		Silent
TP53	7157	hgsc.bcm.edu	37	17	7577538	7577539	+	Frame_Shift_Ins	INS	-	-	G	rs11540652|rs121912651|rs397516437		TCGA-36-1570-01	TCGA-36-1570-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chr17:7577538_7577539insG	ENST00000269305.4	-	7	931_932	c.742_743insC	c.(742-744)cggfs	p.R248fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.R248fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.R248fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.R248fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.R248fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.R248fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248W(544)|p.R248L(75)|p.R155W(28)|p.R248P(19)|p.R155Q(18)|p.R248G(12)|p.0?(8)|p.?(5)|p.R155L(3)|p.N247_R248delNR(2)|p.M246_P250delMNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248R(2)|p.R248fs*97(2)|p.R248fs*16(2)|p.N247_P250delNRRP(1)|p.unknown(1)|p.R248fs*>39(1)|p.R249fs*96(1)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.R248C(1)|p.N247_R248>IP(1)|p.G245fs*14(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)	GATGGGCCTCCGGTTCATGCCG	0.574	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	1315	Substitution - Missense(1282)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(293)|breast(154)|haematopoietic_and_lymphoid_tissue(110)|lung(96)|upper_aerodigestive_tract(87)|central_nervous_system(78)|oesophagus(75)|ovary(73)|endometrium(61)|stomach(61)|urinary_tract(55)|skin(54)|biliary_tract(21)|prostate(21)|pancreas(18)|liver(13)|bone(12)|soft_tissue(7)|thyroid(6)|vulva(4)|kidney(4)|cervix(4)|peritoneum(2)|penis(2)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	17	GRCh37	CM010465|CM900211|CM920675	TP53	M	rs11540652|rs121912651																																			7518264	SO:0001589	frameshift_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743dupC	17.37:g.7577540_7577540dupG	ENSP00000269305:p.Arg248fs	Somatic		Capture	SOLID	Phase_III	7518263	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1	INS	23	Baylor																																																																																				0.574	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Frame_Shift_Ins
ZNF41	7592	hgsc.bcm.edu	37	X	47308223	47308223	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1570-01	TCGA-36-1570-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-36-1570-01	TCGA-36-1570-10	g.chrX:47308223C>T	ENST00000377065.4	-	5	1585	c.946G>A	c.(946-948)Gta>Ata	p.V316I	ZNF41_ENST00000397050.2_Missense_Mutation_p.V326I|ZNF41_ENST00000313116.7_Missense_Mutation_p.V316I|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V316I(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CTTGGATGTACATCAACCTGG	0.403																																																1	Substitution - Missense(1)	ovary(1)	X											72.0	69.0	70.0					X																	47308223		2203	4298	6501	47193167	SO:0001583	missense	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.946G>A	X.37:g.47308223C>T	ENSP00000366265:p.Val316Ile	Somatic		Capture	SOLID	Phase_III	47193167	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	CCDS14279.1	SNP	17	Baylor	.	.	.	.	.	.	.	.	.	.	C	3.086	-0.187925	0.06299	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.07688	3.17;3.17;3.17	3.32	-1.67	0.08238	Zinc finger, C2H2 (1);	1.560110	0.04557	N	0.390978	T	0.06188	0.0160	L	0.35542	1.07	0.09310	N	1	B;B;B;B;B	0.23377	0.0;0.0;0.084;0.0;0.0	B;B;B;B;B	0.21917	0.001;0.001;0.037;0.0;0.001	T	0.38887	-0.9640	10	0.35671	T	0.21	.	1.0763	0.01633	0.158:0.2669:0.154:0.4211	.	316;318;326;350;358	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	I	316;316;326	ENSP00000315173:V316I;ENSP00000366265:V316I;ENSP00000380243:V326I	ENSP00000315173:V316I	V	-	1	0	ZNF41	47193167	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.162000	0.01277	-0.607000	0.05738	-0.931000	0.02705	GTA		0.403	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		Missense_Mutation
