#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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
GABRD	2563	broad.mit.edu	37	1	1961652	1961652	+	Silent	SNP	C	C	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr1:1961652C>T	ENST00000378585.4	+	9	1373	c.1290C>T	c.(1288-1290)taC>taT	p.Y430Y		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	430					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Y430Y(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTGACATTTACGCCCGCGCTG	0.647																																																1	Substitution - coding silent(1)	ovary(1)	1											65.0	64.0	64.0					1																	1961652		2203	4296	6499	1951512	SO:0001819	synonymous_variant	2563			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1290C>T	1.37:g.1961652C>T			1951512	Q8N4N9	Silent	SNP	ENST00000378585.4	37	CCDS36.1																																																																																				0.647	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815	
PTPRF	5792	broad.mit.edu	37	1	44044559	44044559	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr1:44044559G>A	ENST00000359947.4	+	7	987	c.647G>A	c.(646-648)cGt>cAt	p.R216H	PTPRF_ENST00000372413.3_Missense_Mutation_p.R216H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R216H|PTPRF_ENST00000372414.3_Missense_Mutation_p.R216H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	216	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R206H(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCAGGCACACGTTACTCAGCC	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											181.0	121.0	141.0					1																	44044559		2203	4300	6503	43817146	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.647G>A	1.37:g.44044559G>A	ENSP00000353030:p.Arg216His		43817146	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.	.	.	.	.	.	.	.	.	.	G	35	5.531671	0.96446	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	4.75	4.75	0.60458	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33382	N	0.004967	T	0.75474	0.3854	L	0.35793	1.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.995;0.995;0.997;0.981	T	0.75402	-0.3330	10	0.44086	T	0.13	.	18.6448	0.91407	0.0:0.0:1.0:0.0	.	216;216;216;222	Q5T020;P10586-2;P10586;Q5T019	.;.;PTPRF_HUMAN;.	H	216	ENSP00000353030:R216H;ENSP00000398822:R216H;ENSP00000361491:R216H;ENSP00000361490:R216H;ENSP00000413306:R216H	ENSP00000353030:R216H	R	+	2	0	PTPRF	43817146	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.751000	0.98889	2.583000	0.87209	0.591000	0.81541	CGT		0.607	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		
GBA	2629	broad.mit.edu	37	1	155207162	155207162	+	Silent	SNP	T	T	C			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr1:155207162T>C	ENST00000327247.5	-	8	1201	c.969A>G	c.(967-969)caA>caG	p.Q323Q	GBA_ENST00000368373.3_Silent_p.Q323Q|GBA_ENST00000428024.3_Silent_p.Q236Q|GBA_ENST00000427500.3_Silent_p.Q274Q|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000536770.1_Silent_p.Q210Q|GBA_ENST00000493842.1_5'Flank	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	323					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)	p.Q323Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	GCAGCAAGCGTTGGTCATCCA	0.557									Gaucher disease type I																																							1	Substitution - coding silent(1)	ovary(1)	1											89.0	77.0	81.0					1																	155207162		2203	4298	6501	153473786	SO:0001819	synonymous_variant	2629	Familial Cancer Database	glucocerebrosidase insufficiency	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.969A>G	1.37:g.155207162T>C			153473786	A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Silent	SNP	ENST00000327247.5	37	CCDS1102.1																																																																																				0.557	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157	
RET	5979	broad.mit.edu	37	10	43619215	43619215	+	Silent	SNP	C	C	T	rs373693875		TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr10:43619215C>T	ENST00000355710.3	+	17	3130	c.2898C>T	c.(2896-2898)acC>acT	p.T966T	RET_ENST00000340058.5_Silent_p.T966T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	966	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T966T(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTCTGAAGACCGGCCACCGGA	0.602		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	1	Substitution - coding silent(1)	ovary(1)	10						C	,	1,4405	2.1+/-5.4	0,1,2202	77.0	80.0	79.0		2898,2898	-10.3	0.3	10		79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RET	NM_020630.4,NM_020975.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	966/1073,966/1115	43619215	1,13005	2203	4300	6503	42939221	SO:0001819	synonymous_variant	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2898C>T	10.37:g.43619215C>T			42939221	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	CCDS7200.1																																																																																				0.602	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975	
OR52B6	340980	broad.mit.edu	37	11	5603050	5603050	+	Missense_Mutation	SNP	G	G	T	rs377549706		TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr11:5603050G>T	ENST00000345043.2	+	1	944	c.944G>T	c.(943-945)aGg>aTg	p.R315M	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R315M(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGGAGTGAGGACTAAGCCA	0.438																																																1	Substitution - Missense(1)	ovary(1)	11											196.0	175.0	182.0					11																	5603050		1919	4130	6049	5559626	SO:0001583	missense	340980			AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.944G>T	11.37:g.5603050G>T	ENSP00000341581:p.Arg315Met		5559626	Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619730	0.28801	.	.	ENSG00000187747	ENST00000345043	T	0.38240	1.15	4.8	1.53	0.23141	.	0.000000	0.41194	U	0.000927	T	0.53110	0.1776	M	0.80183	2.485	0.25690	N	0.985708	D	0.76494	0.999	D	0.64687	0.928	T	0.44742	-0.9308	10	0.87932	D	0	.	6.571	0.22539	0.4654:0.0:0.5346:0.0	.	315	Q8NGF0	O52B6_HUMAN	M	315	ENSP00000341581:R315M	ENSP00000341581:R315M	R	+	2	0	OR52B6	5559626	0.000000	0.05858	0.624000	0.29186	0.167000	0.22549	-0.009000	0.12765	0.126000	0.18424	0.591000	0.81541	AGG		0.438	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162	
SYT7	9066	broad.mit.edu	37	11	61300523	61300523	+	Missense_Mutation	SNP	G	G	A	rs529590239		TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr11:61300523G>A	ENST00000263846.4	-	4	616	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	SYT7_ENST00000540677.1_Missense_Mutation_p.R172W|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542836.1_Missense_Mutation_p.R141W|SYT7_ENST00000535826.1_Missense_Mutation_p.R216W|SYT7_ENST00000542670.1_Missense_Mutation_p.R305W|SYT7_ENST00000539008.1_Missense_Mutation_p.R380W	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	97					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.R97W(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGCTCGGTCCGGCGGTCGGAC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16502	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	11											100.0	92.0	95.0					11																	61300523		2202	4299	6501	61057099	SO:0001583	missense	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.289C>T	11.37:g.61300523G>A	ENSP00000263846:p.Arg97Trp		61057099	F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750571	0.69533	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.57752	0.38;0.41;0.56;0.46;0.42;0.43;1.8	4.47	2.41	0.29592	.	0.688216	0.13727	N	0.366950	T	0.52191	0.1719	N	0.14661	0.345	0.46458	D	0.999053	D;D	0.76494	0.999;0.975	D;B	0.63488	0.915;0.249	T	0.50154	-0.8861	10	0.54805	T	0.06	.	11.7644	0.51922	0.0:0.0:0.3322:0.6678	.	172;97	F5GZU9;O43581	.;SYT7_HUMAN	W	97;172;380;141;305;216;97	ENSP00000263846:R97W;ENSP00000444201:R172W;ENSP00000439694:R380W;ENSP00000444568:R141W;ENSP00000444019:R305W;ENSP00000437720:R216W;ENSP00000443576:R97W	ENSP00000263846:R97W	R	-	1	2	SYT7	61057099	1.000000	0.71417	0.999000	0.59377	0.922000	0.55478	0.753000	0.26376	0.312000	0.23038	0.462000	0.41574	CGG		0.632	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200	
STX5	6811	broad.mit.edu	37	11	62595064	62595064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr11:62595064G>A	ENST00000294179.3	-	3	418	c.265C>T	c.(265-267)Cga>Tga	p.R89*	STX5_ENST00000377897.4_Nonsense_Mutation_p.R89*|STX5_ENST00000394690.1_Nonsense_Mutation_p.R35*|STX5_ENST00000541317.1_5'UTR	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	89					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)	p.R89*(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						CTGCGTTGTCGGACAGCACGC	0.483																																																1	Substitution - Nonsense(1)	ovary(1)	11											133.0	120.0	124.0					11																	62595064		2201	4299	6500	62351640	SO:0001587	stop_gained	6811			U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.265C>T	11.37:g.62595064G>A	ENSP00000294179:p.Arg89*		62351640	B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Nonsense_Mutation	SNP	ENST00000294179.3	37	CCDS8038.2	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841403	0.71488	.	.	ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690	.	.	.	5.37	4.46	0.54185	.	0.168259	0.44902	D	0.000401	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-4.9805	6.9639	0.24613	0.088:0.0:0.7402:0.1717	.	.	.	.	X	89;89;35	.	ENSP00000294179:R89X	R	-	1	2	STX5	62351640	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.923000	0.40055	1.278000	0.44430	0.655000	0.94253	CGA		0.483	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164	
SHANK2	22941	broad.mit.edu	37	11	70348920	70348920	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr11:70348920G>C	ENST00000423696.2	-	8	1077	c.1041C>G	c.(1039-1041)gaC>gaG	p.D347E	SHANK2_ENST00000409161.1_Missense_Mutation_p.D137E|SHANK2_ENST00000449833.2_Missense_Mutation_p.D138E|SHANK2_ENST00000409530.1_Missense_Mutation_p.D137E|SHANK2_ENST00000338508.4_Missense_Mutation_p.D727E|SHANK2_ENST00000357171.3_Missense_Mutation_p.D138E|SHANK2_ENST00000449116.2_Missense_Mutation_p.D138E			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	347					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.D138E(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGGCGGTGTCGTCGGGGTCCA	0.657																																																1	Substitution - Missense(1)	ovary(1)	11											117.0	91.0	100.0					11																	70348920		2200	4294	6494	70026568	SO:0001583	missense	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1041C>G	11.37:g.70348920G>C	ENSP00000394536:p.Asp347Glu		70026568	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	6.053|6.053|6.053	0.378151|0.378151|0.378151	0.11466|0.11466|0.11466	.|.|.	.|.|.	ENSG00000162105|ENSG00000162105|ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018;ENST00000409530;ENST00000449116;ENST00000357171|ENST00000412252|ENST00000426687	T;T;T;T;T;T;T;T;T|.|.	0.38887|.|.	2.59;2.59;3.4;1.29;2.71;2.71;1.11;1.11;1.11|.|.	4.46|4.46|4.46	-4.29|-4.29|-4.29	0.03721|0.03721|0.03721	.|.|.	0.796156|.|.	0.11248|.|.	N|.|.	0.583928|.|.	T|T|T	0.45955|0.45955|0.45955	0.1368|0.1368|0.1368	L|L|L	0.34521|0.34521|0.34521	1.04|1.04|1.04	0.45914|0.45914|0.45914	D|D|D	0.998751|0.998751|0.998751	B;B;D;B|.|.	0.76494|.|.	0.028;0.201;0.999;0.303|.|.	B;B;D;B|.|.	0.87578|.|.	0.049;0.146;0.998;0.281|.|.	T|T|T	0.36212|0.36212|0.36212	-0.9757|-0.9757|-0.9757	10|5|5	0.24483|.|.	T|.|.	0.36|.|.	.|.|.	9.4507|9.4507|9.4507	0.38725|0.38725|0.38725	0.7586:0.1233:0.1181:0.0|0.7586:0.1233:0.1181:0.0|0.7586:0.1233:0.1181:0.0	.|.|.	138;347;726;138|.|.	B7ZKU9;Q9UPX8;Q9UPX8-3;Q9UPX8-4|.|.	.;SHAN2_HUMAN;.;.|.|.	E|G|R	138;137;15;727;347;361;357;137;138;138|137|136	ENSP00000399423:D138E;ENSP00000386491:D137E;ENSP00000402944:D15E;ENSP00000345193:D727E;ENSP00000394536:D347E;ENSP00000294018:D357E;ENSP00000387324:D137E;ENSP00000394939:D138E;ENSP00000349694:D138E|.|.	ENSP00000294018:D357E|.|.	D|R|T	-|-|-	3|1|2	2|2|0	SHANK2|SHANK2|SHANK2	70026568|70026568|70026568	0.051000|0.051000|0.051000	0.20477|0.20477|0.20477	0.390000|0.390000|0.390000	0.26220|0.26220|0.26220	0.481000|0.481000|0.481000	0.33189|0.33189|0.33189	-0.687000|-0.687000|-0.687000	0.05156|0.05156|0.05156	-1.006000|-1.006000|-1.006000	0.03412|0.03412|0.03412	0.462000|0.462000|0.462000	0.41574|0.41574|0.41574	GAC|CGA|ACG		0.657	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309	
RNFT2	84900	broad.mit.edu	37	12	117271726	117271726	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr12:117271726G>C	ENST00000257575.4	+	8	1245	c.1012G>C	c.(1012-1014)Gtt>Ctt	p.V338L	RNFT2_ENST00000392549.2_Missense_Mutation_p.V338L|RNFT2_ENST00000407967.3_Missense_Mutation_p.V338L|RNFT2_ENST00000319176.7_Intron			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	338						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.V248L(1)		endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GGTCCTGATCGTTCTCTACAG	0.612																																																1	Substitution - Missense(1)	ovary(1)	12											59.0	48.0	52.0					12																	117271726		2203	4300	6503	115756109	SO:0001583	missense	84900			AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.1012G>C	12.37:g.117271726G>C	ENSP00000257575:p.Val338Leu		115756109	E9PAM7|Q96SU5	Missense_Mutation	SNP	ENST00000257575.4	37	CCDS44987.1	.	.	.	.	.	.	.	.	.	.	G	4.495	0.091736	0.08632	.	.	ENSG00000135119	ENST00000257575;ENST00000407967;ENST00000392549	T;T	0.39997	1.05;1.05	4.85	-5.29	0.02747	.	0.516703	0.20519	N	0.090723	T	0.12689	0.0308	N	0.02181	-0.65	0.32145	N	0.585056	B;B	0.21753	0.004;0.06	B;B	0.17098	0.005;0.017	T	0.34875	-0.9811	10	0.05833	T	0.94	-2.4579	14.3619	0.66779	0.7787:0.0:0.2213:0.0	.	338;338	Q96EX2;E9PAM7	RNFT2_HUMAN;.	L	338	ENSP00000257575:V338L;ENSP00000376332:V338L	ENSP00000257575:V338L	V	+	1	0	RNFT2	115756109	0.996000	0.38824	0.013000	0.15412	0.966000	0.64601	1.093000	0.30939	-1.091000	0.03065	0.650000	0.86243	GTT		0.612	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814	
POTEG	404785	broad.mit.edu	37	14	19553823	19553823	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr14:19553823G>A	ENST00000409832.3	+	1	459	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	136								p.R136H(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TACCACGTCCGTCGAGAAGAT	0.577																																																1	Substitution - Missense(1)	ovary(1)	14											93.0	102.0	99.0					14																	19553823		1602	3367	4969	18623823	SO:0001583	missense	404785				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.407G>A	14.37:g.19553823G>A	ENSP00000386971:p.Arg136His		18623823	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	5.784	0.328972	0.10956	.	.	ENSG00000222036	ENST00000409832	T	0.53206	0.63	1.47	-2.95	0.05564	.	.	.	.	.	T	0.34687	0.0906	L	0.50333	1.59	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.24657	-1.0154	9	0.39692	T	0.17	.	4.5394	0.12049	0.0:0.4621:0.3049:0.2331	.	136	Q6S5H5	POTEG_HUMAN	H	136	ENSP00000386971:R136H	ENSP00000386971:R136H	R	+	2	0	POTEG	18623823	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.250000	0.08830	-0.851000	0.04147	-0.715000	0.03620	CGT		0.577	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356	
NRDE2	55051	broad.mit.edu	37	14	90755479	90755479	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr14:90755479C>T	ENST00000354366.3	-	11	2472	c.2240G>A	c.(2239-2241)tGc>tAc	p.C747Y	NRDE2_ENST00000357904.3_Missense_Mutation_p.C516Y	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	747								p.C747Y(1)									AGTGTGCAGGCACCAAATGAC	0.423																																																1	Substitution - Missense(1)	ovary(1)	14											101.0	114.0	110.0					14																	90755479		2203	4300	6503	89825232	SO:0001583	missense	55051			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2240G>A	14.37:g.90755479C>T	ENSP00000346335:p.Cys747Tyr		89825232	B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	8.004	0.756072	0.15846	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.46451	0.87;0.87	4.82	2.84	0.33178	.	0.164050	0.56097	D	0.000039	T	0.30978	0.0782	L	0.49126	1.545	0.80722	D	1	B	0.19706	0.038	B	0.18871	0.023	T	0.14309	-1.0477	10	0.02654	T	1	-4.5618	11.7611	0.51903	0.0:0.837:0.0:0.163	.	747	Q9H7Z3	CN102_HUMAN	Y	747;516	ENSP00000346335:C747Y;ENSP00000350579:C516Y	ENSP00000346335:C747Y	C	-	2	0	C14orf102	89825232	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	3.515000	0.53429	1.238000	0.43771	0.650000	0.86243	TGC		0.423	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970	
INO80	54617	broad.mit.edu	37	15	41384310	41384310	+	Missense_Mutation	SNP	T	T	C	rs145473172	byFrequency	TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr15:41384310T>C	ENST00000361937.3	-	5	876	c.452A>G	c.(451-453)aAt>aGt	p.N151S	INO80_ENST00000401393.3_Missense_Mutation_p.N151S			Q9ULG1	INO80_HUMAN	INO80 complex subunit	151	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.N151S(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCTGCTGAGATTGAGTTCTTC	0.378													T|||	24	0.00479233	0.0151	0.0043	5008	,	,		18882	0.0		0.001	False		,,,				2504	0.0															2	Substitution - Missense(2)	ovary(2)	15						T	SER/ASN	43,4363	46.0+/-80.4	0,43,2160	182.0	168.0	173.0		452	0.6	1.0	15	dbSNP_134	173	1,8599	1.2+/-3.3	0,1,4299	yes	missense	INO80	NM_017553.1	46	0,44,6459	CC,CT,TT		0.0116,0.9759,0.3383	benign	151/1557	41384310	44,12962	2203	4300	6503	39171602	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.452A>G	15.37:g.41384310T>C	ENSP00000355205:p.Asn151Ser		39171602	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	11	0.005036630036630037	9	0.018292682926829267	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	T	0.019	-1.452823	0.01080	0.009759	1.16E-4	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.89681	-2.55;-2.55	5.37	0.579	0.17397	.	0.582086	0.19443	N	0.114125	T	0.41050	0.1142	N	0.00583	-1.355	0.20703	N	0.999865	B	0.02656	0.0	B	0.01281	0.0	T	0.53493	-0.8431	10	0.09084	T	0.74	.	1.5532	0.02579	0.1122:0.2422:0.2519:0.3938	.	151	Q9ULG1	INO80_HUMAN	S	151	ENSP00000355205:N151S;ENSP00000384686:N151S	ENSP00000355205:N151S	N	-	2	0	INO80	39171602	1.000000	0.71417	0.995000	0.50966	0.336000	0.28762	0.986000	0.29590	-0.056000	0.13221	-0.568000	0.04159	AAT		0.378	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553	
C17orf97	400566	broad.mit.edu	37	17	263021	263021	+	Silent	SNP	C	C	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr17:263021C>T	ENST00000360127.6	+	2	403	c.387C>T	c.(385-387)ggC>ggT	p.G129G	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	129								p.G129G(1)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						AAGAGCGTGGCCCGAAACCAG	0.512																																																1	Substitution - coding silent(1)	ovary(1)	17											132.0	119.0	124.0					17																	263021		2203	4300	6503	263337	SO:0001819	synonymous_variant	400566			AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.387C>T	17.37:g.263021C>T			263337	A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000360127.6	37	CCDS32519.2																																																																																				0.512	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672	
MYO18A	399687	broad.mit.edu	37	17	27437013	27437013	+	Missense_Mutation	SNP	C	C	G	rs372516386		TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr17:27437013C>G	ENST00000527372.1	-	19	3374	c.3194G>C	c.(3193-3195)cGa>cCa	p.R1065P	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1065P|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1065P|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1065P	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1065	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.R1065P(1)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCTGCTGACTCGGCGGGAGGA	0.662																																					Esophageal Squamous(182;472 2015 7001 15270 22562)											1	Substitution - Missense(1)	ovary(1)	17											21.0	29.0	27.0					17																	27437013		2195	4295	6490	24461139	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3194G>C	17.37:g.27437013C>G	ENSP00000437073:p.Arg1065Pro		24461139	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589841	0.66105	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	D;D;D;D	0.88586	-2.29;-2.4;-2.28;-2.28	5.15	5.15	0.70609	Myosin head, motor domain (1);	0.000000	0.64402	D	0.000012	D	0.91002	0.7170	M	0.65975	2.015	0.35859	D	0.827374	B;P;P;D;D	0.55385	0.056;0.866;0.742;0.958;0.971	B;P;P;P;P	0.52881	0.071;0.496;0.496;0.712;0.512	D	0.90395	0.4398	10	0.15952	T	0.53	.	18.5878	0.91197	0.0:1.0:0.0:0.0	.	734;677;1065;1065;1065	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	P	1065;1065;1065;1065;1065;677	ENSP00000346291:R1065P;ENSP00000435932:R1065P;ENSP00000434228:R1065P;ENSP00000437073:R1065P	ENSP00000346291:R1065P	R	-	2	0	MYO18A	24461139	1.000000	0.71417	0.818000	0.32626	0.987000	0.75469	2.514000	0.45503	2.566000	0.86566	0.561000	0.74099	CGA		0.662	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	
OR7G1	125962	broad.mit.edu	37	19	9225745	9225745	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr19:9225745C>G	ENST00000541538.1	-	1	694	c.695G>C	c.(694-696)aGa>aCa	p.R232T	OR7G1_ENST00000293614.1_Missense_Mutation_p.R232T	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R232T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						ATACTTTCCTCTTGCTGATGG	0.398																																																1	Substitution - Missense(1)	ovary(1)	19											87.0	89.0	88.0					19																	9225745		2203	4300	6503	9086745	SO:0001583	missense	125962				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.695G>C	19.37:g.9225745C>G	ENSP00000444134:p.Arg232Thr		9086745	Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	c	6.664	0.491005	0.12702	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.00115	8.71;8.71	3.12	-0.217	0.13149	GPCR, rhodopsin-like superfamily (1);	0.432076	0.16938	U	0.193374	T	0.00073	0.0002	N	0.11724	0.165	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.16158	-1.0412	10	0.42905	T	0.14	.	3.9164	0.09225	0.0:0.3547:0.189:0.4563	.	232	Q8NGA0	OR7G1_HUMAN	T	232	ENSP00000293614:R232T;ENSP00000444134:R232T	ENSP00000293614:R232T	R	-	2	0	OR7G1	9086745	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.321000	0.19558	0.057000	0.16193	0.501000	0.49751	AGA		0.398	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1		
ZNF208	7757	broad.mit.edu	37	19	22155976	22155976	+	Missense_Mutation	SNP	C	C	A	rs184568351	byFrequency	TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr19:22155976C>A	ENST00000397126.4	-	4	2008	c.1860G>T	c.(1858-1860)aaG>aaT	p.K620N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	620					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K520N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTGAGACCTTACTAAAGG	0.368																																																1	Substitution - Missense(1)	ovary(1)	19											72.0	77.0	76.0					19																	22155976		2114	4252	6366	21947816	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1860G>T	19.37:g.22155976C>A	ENSP00000380315:p.Lys620Asn		21947816		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	1.999	-0.429929	0.04701	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.35605	1.3	2.66	0.0261	0.14148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35128	0.0921	.	.	.	0.09310	N	1	D	0.52996	0.957	P	0.52710	0.707	T	0.20538	-1.0272	8	0.26408	T	0.33	.	5.6278	0.17492	0.0:0.5344:0.3299:0.1357	.	520	O43345	ZN208_HUMAN	N	620;520	ENSP00000380315:K620N	ENSP00000380315:K620N	K	-	3	2	ZNF208	21947816	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-2.854000	0.00730	0.111000	0.17947	0.306000	0.20318	AAG		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
LRP3	4037	broad.mit.edu	37	19	33696381	33696381	+	Silent	SNP	C	C	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr19:33696381C>T	ENST00000253193.7	+	5	907	c.705C>T	c.(703-705)gaC>gaT	p.D235D	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	235	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)		p.D235D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GGCGCTGTGACGGCTTGCAGG	0.756																																																1	Substitution - coding silent(1)	ovary(1)	19											6.0	8.0	7.0					19																	33696381		1986	3965	5951	38388221	SO:0001819	synonymous_variant	4037			AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.705C>T	19.37:g.33696381C>T			38388221	B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	CCDS12430.1																																																																																				0.756	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4		
DYRK1B	9149	broad.mit.edu	37	19	40319198	40319198	+	Silent	SNP	G	G	A			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr19:40319198G>A	ENST00000593685.1	-	6	1014	c.546C>T	c.(544-546)ttC>ttT	p.F182F	DYRK1B_ENST00000430012.2_Silent_p.F182F|DYRK1B_ENST00000348817.3_Silent_p.F182F|DYRK1B_ENST00000323039.5_Silent_p.F182F|DYRK1B_ENST00000597639.1_Silent_p.F182F			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)	p.F182F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GGTGGTTCCGGAACATGAAGT	0.602																																																1	Substitution - coding silent(1)	ovary(1)	19											61.0	57.0	59.0					19																	40319198		2203	4300	6503	45011038	SO:0001819	synonymous_variant	9149			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.546C>T	19.37:g.40319198G>A			45011038	O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	CCDS12543.1																																																																																				0.602	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714	
DYRK1B	9149	broad.mit.edu	37	19	40320646	40320646	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr19:40320646G>C	ENST00000593685.1	-	5	862	c.394C>G	c.(394-396)Cag>Gag	p.Q132E	DYRK1B_ENST00000430012.2_Missense_Mutation_p.Q132E|DYRK1B_ENST00000348817.3_Missense_Mutation_p.Q132E|DYRK1B_ENST00000323039.5_Missense_Mutation_p.Q132E|DYRK1B_ENST00000597639.1_Missense_Mutation_p.Q132E			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)	p.Q132E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TCCTGGGTCTGATGATCATAG	0.557																																																1	Substitution - Missense(1)	ovary(1)	19											108.0	96.0	100.0					19																	40320646		2203	4300	6503	45012486	SO:0001583	missense	9149			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.394C>G	19.37:g.40320646G>C	ENSP00000469863:p.Gln132Glu		45012486	O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580509	0.46006	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.63913	-0.07;-0.07;-0.07	4.19	4.19	0.49359	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.127014	0.53938	D	0.000047	T	0.37945	0.1022	N	0.03177	-0.4	0.48341	D	0.999638	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.14023	0.01;0.007;0.01	T	0.21895	-1.0232	10	0.24483	T	0.36	.	14.0465	0.64708	0.0:0.0:1.0:0.0	.	132;132;132	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	E	132	ENSP00000312789:Q132E;ENSP00000221803:Q132E;ENSP00000403182:Q132E	ENSP00000312789:Q132E	Q	-	1	0	DYRK1B	45012486	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.243000	0.65395	2.169000	0.68431	0.561000	0.74099	CAG		0.557	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714	
ATP6V1A	523	broad.mit.edu	37	3	113497630	113497630	+	Silent	SNP	C	C	G			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr3:113497630C>G	ENST00000273398.3	+	2	138	c.30C>G	c.(28-30)ctC>ctG	p.L10L	ATP6V1A_ENST00000538620.1_5'UTR	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	10					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.L10L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CCAAAATACTCGATGAAGATA	0.299																																																1	Substitution - coding silent(1)	ovary(1)	3											68.0	69.0	68.0					3																	113497630		2203	4298	6501	114980320	SO:0001819	synonymous_variant	523			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.30C>G	3.37:g.113497630C>G			114980320	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Silent	SNP	ENST00000273398.3	37	CCDS2976.1																																																																																				0.299	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690	
USO1	8615	broad.mit.edu	37	4	76692047	76692047	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr4:76692047G>T	ENST00000538159.1	+	6	475	c.475G>T	c.(475-477)Gtg>Ttg	p.V159L	USO1_ENST00000514213.2_Missense_Mutation_p.V142L			O60763	USO1_HUMAN	USO1 vesicle transport factor	157	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.V85L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGGCCTCAGGTGCAACAAAT	0.353																																																1	Substitution - Missense(1)	ovary(1)	4											150.0	145.0	147.0					4																	76692047		1829	4080	5909	76911071	SO:0001583	missense	8615			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.475G>T	4.37:g.76692047G>T	ENSP00000440586:p.Val159Leu		76911071	B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37		.	.	.	.	.	.	.	.	.	.	G	18.31	3.595602	0.66219	.	.	ENSG00000138768	ENST00000538159;ENST00000514213;ENST00000264904	T;T	0.62105	0.05;0.05	5.77	5.77	0.91146	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	L	0.28776	0.89	0.80722	D	1	B	0.13145	0.007	B	0.14023	0.01	T	0.46414	-0.9193	10	0.14252	T	0.57	.	19.9859	0.97351	0.0:0.0:1.0:0.0	.	157	O60763	USO1_HUMAN	L	159;142;85	ENSP00000440586:V159L;ENSP00000444850:V142L	ENSP00000264904:V85L	V	+	1	0	USO1	76911071	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.080000	0.57620	2.729000	0.93468	0.655000	0.94253	GTG		0.353	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715	
PCDHGB3	56102	broad.mit.edu	37	5	140778299	140778299	+	Intron	SNP	G	G	A			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr5:140778299G>A	ENST00000576222.1	+	1	2546				PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTTAGACCGGGAACAACAG	0.483																																																0			5											102.0	104.0	103.0					5																	140778299		1914	4134	6048	140758483	SO:0001627	intron_variant	56101			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+25923G>A	5.37:g.140778299G>A			140758483	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.483	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
HIST1H2AE	3012	broad.mit.edu	37	6	26217314	26217314	+	Missense_Mutation	SNP	G	G	A	rs372540247		TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr6:26217314G>A	ENST00000303910.2	+	1	150	c.112G>A	c.(112-114)Ggc>Agc	p.G38S	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	38				GN -> AH (in Ref. 1; CAA24951). {ECO:0000305}.		extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G38S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				CCTCCGCAAAGGCAACTACTC	0.607																																																1	Substitution - Missense(1)	ovary(1)	6						G	SER/GLY	0,4406		0,0,2203	55.0	50.0	52.0		112	4.0	1.0	6		52	1,8599		0,1,4299	no	missense	HIST1H2AE	NM_021052.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	38/131	26217314	1,13005	2203	4300	6503	26325293	SO:0001583	missense	3012			M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.112G>A	6.37:g.26217314G>A	ENSP00000303373:p.Gly38Ser		26325293	P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	14.70	2.612935	0.46631	0.0	1.16E-4	ENSG00000168274	ENST00000303910	T	0.69306	-0.39	3.98	3.98	0.46160	.	0.000000	0.34676	U	0.003777	T	0.78710	0.4326	M	0.86740	2.835	0.53688	D	0.999972	.	.	.	.	.	.	D	0.83377	0.0010	8	0.72032	D	0.01	.	15.5689	0.76317	0.0:0.0:1.0:0.0	.	.	.	.	S	38	ENSP00000303373:G38S	ENSP00000303373:G38S	G	+	1	0	HIST1H2AE	26325293	1.000000	0.71417	0.958000	0.39756	0.004000	0.04260	9.392000	0.97252	2.215000	0.71742	0.585000	0.79938	GGC		0.607	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052	
VWA7	80737	broad.mit.edu	37	6	31736894	31736894	+	Nonsense_Mutation	SNP	G	G	C			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr6:31736894G>C	ENST00000375688.4	-	10	1604	c.1404C>G	c.(1402-1404)taC>taG	p.Y468*	VWA7_ENST00000447450.1_Nonsense_Mutation_p.Y468*|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375686.3_Nonsense_Mutation_p.Y468*			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	468	VWFA.					extracellular region (GO:0005576)		p.Y468*(1)									CCACTGCTTTGTATGGCTCAA	0.552																																																1	Substitution - Nonsense(1)	ovary(1)	6											141.0	98.0	113.0					6																	31736894		1511	2709	4220	31844873	SO:0001587	stop_gained	80737				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1404C>G	6.37:g.31736894G>C	ENSP00000364840:p.Tyr468*		31844873	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Nonsense_Mutation	SNP	ENST00000375688.4	37	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	G	36	5.658533	0.96734	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	.	.	.	5.65	-3.91	0.04168	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.794	12.8778	0.57999	0.4821:0.0:0.5179:0.0	.	.	.	.	X	468	.	ENSP00000364838:Y468X	Y	-	3	2	C6orf27	31844873	0.002000	0.14202	0.596000	0.28811	0.503000	0.33858	-0.372000	0.07504	-0.423000	0.07394	-0.379000	0.06801	TAC		0.552	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258	
RBAK	57786	broad.mit.edu	37	7	5097322	5097322	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr7:5097322T>G	ENST00000353796.3	+	5	474	c.150T>G	c.(148-150)gaT>gaG	p.D50E	RBAK-RBAKDN_ENST00000407184.1_Missense_Mutation_p.D50E|RBAK-RBAKDN_ENST00000396904.2_Missense_Mutation_p.D50E|RBAK_ENST00000396912.1_Missense_Mutation_p.D50E	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.D50E(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CAGGATATGATACCACCAAGC	0.453																																																1	Substitution - Missense(1)	ovary(1)	7											131.0	114.0	120.0					7																	5097322		2203	4300	6503	5063848	SO:0001583	missense	57786			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.150T>G	7.37:g.5097322T>G	ENSP00000275423:p.Asp50Glu		5063848	A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.071970	0.36566	.	.	ENSG00000146587	ENST00000407184;ENST00000353796;ENST00000396904;ENST00000396912	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	3.3	-2.64	0.06114	Krueppel-associated box (3);	0.141960	0.32459	N	0.006063	T	0.17450	0.0419	N	0.00670	-1.27	0.26781	N	0.969606	D	0.58970	0.984	D	0.67548	0.952	T	0.42068	-0.9473	9	0.02654	T	1	.	4.5353	0.12026	0.1452:0.4355:0.0:0.4194	.	50	Q9NYW8	RBAK_HUMAN	E	50	ENSP00000385560:D50E;ENSP00000275423:D50E;ENSP00000380112:D50E;ENSP00000380120:D50E	ENSP00000275423:D50E	D	+	3	2	RBAK	5063848	0.002000	0.14202	0.001000	0.08648	0.075000	0.17131	-0.339000	0.07832	-0.537000	0.06290	0.379000	0.24179	GAT		0.453	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163	
DLX6	1750	broad.mit.edu	37	7	96639147	96639147	+	Nonsense_Mutation	SNP	A	A	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr7:96639147A>T	ENST00000518156.2	+	3	1100	c.670A>T	c.(670-672)Aaa>Taa	p.K224*	DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000555308.1_Nonsense_Mutation_p.K96*|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000007660.5_Nonsense_Mutation_p.K196*|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	106					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K196*(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TAAGTTTAAGAAACTGCTGAA	0.537																																																1	Substitution - Nonsense(1)	ovary(1)	7											86.0	86.0	86.0					7																	96639147		2046	4208	6254	96477083	SO:0001587	stop_gained	1750				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.670A>T	7.37:g.96639147A>T	ENSP00000428480:p.Lys224*		96477083	A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Nonsense_Mutation	SNP	ENST00000518156.2	37	CCDS47647.2	.	.	.	.	.	.	.	.	.	.	A	35	5.586288	0.96578	.	.	ENSG00000006377	ENST00000518156;ENST00000007660;ENST00000555308	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0013	16.0796	0.80995	1.0:0.0:0.0:0.0	.	.	.	.	X	224;196;96	.	ENSP00000007660:K196X	K	+	1	0	DLX6	96477083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.281000	0.95811	2.206000	0.71126	0.533000	0.62120	AAA		0.537	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222	
PPP2R2A	5520	broad.mit.edu	37	8	26227853	26227853	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr8:26227853C>T	ENST00000380737.3	+	10	1597	c.1268C>T	c.(1267-1269)gCc>gTc	p.A423V	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.A433V	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	423					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.A423V(1)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		CTTCACACAGCCTGGCACCCC	0.413																																																1	Substitution - Missense(1)	ovary(1)	8											86.0	86.0	86.0					8																	26227853		2203	4300	6503	26283770	SO:0001583	missense	5520			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1268C>T	8.37:g.26227853C>T	ENSP00000370113:p.Ala423Val		26283770	B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297700	0.60086	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.34859	1.34;1.34	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.64283	0.2584	M	0.81682	2.555	0.80722	D	1	P;P;D	0.76494	0.469;0.76;0.999	B;B;D	0.72075	0.293;0.181;0.976	T	0.67221	-0.5725	10	0.72032	D	0.01	-28.052	19.3941	0.94598	0.0:1.0:0.0:0.0	.	433;423;424	B4E1T7;P63151;Q6ZP32	.;2ABA_HUMAN;.	V	423;433	ENSP00000370113:A423V;ENSP00000325074:A433V	ENSP00000325074:A433V	A	+	2	0	PPP2R2A	26283770	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.465000	0.66725	2.885000	0.99019	0.655000	0.94253	GCC		0.413	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717	
FNTA	2339	broad.mit.edu	37	8	42911646	42911646	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr8:42911646G>T	ENST00000302279.3	+	1	351	c.157G>T	c.(157-159)Gac>Tac	p.D53Y	FNTA_ENST00000342116.4_Missense_Mutation_p.D53Y|FNTA_ENST00000529687.1_5'Flank|RP11-598P20.5_ENST00000534420.1_Intron|FNTA_ENST00000524546.1_3'UTR	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	53					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)	p.D53Y(1)		cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CCCCATGGACGACGGGTTTGT	0.731																																																1	Substitution - Missense(1)	ovary(1)	8											14.0	14.0	14.0					8																	42911646		2187	4274	6461	43030803	SO:0001583	missense	2339			L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.157G>T	8.37:g.42911646G>T	ENSP00000303423:p.Asp53Tyr		43030803	A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221859	0.39300	.	.	ENSG00000168522	ENST00000302279;ENST00000342116;ENST00000531266	.	.	.	4.77	2.7	0.31948	.	0.220901	0.41097	D	0.000947	T	0.23572	0.0570	N	0.08118	0	0.33481	D	0.587501	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.002	T	0.13229	-1.0517	9	0.44086	T	0.13	-16.7304	6.0999	0.20041	0.0:0.1718:0.5513:0.2769	.	53;53	P49354-2;P49354	.;FNTA_HUMAN	Y	53;53;48	.	ENSP00000303423:D53Y	D	+	1	0	FNTA	43030803	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	1.306000	0.33505	0.966000	0.38159	0.460000	0.39030	GAC		0.731	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027	
ST18	9705	broad.mit.edu	37	8	53077785	53077785	+	Splice_Site	SNP	A	A	G			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr8:53077785A>G	ENST00000276480.7	-	12	1888	c.1205T>C	c.(1204-1206)aTt>aCt	p.I402T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	402					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.I402T(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CATGGCAAGAACTAAGCACAA	0.423																																																1	Substitution - Missense(1)	ovary(1)	8											161.0	153.0	156.0					8																	53077785		2203	4300	6503	53240338	SO:0001630	splice_region_variant	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1205-1T>C	8.37:g.53077785A>G			53240338	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.947711	0.92593	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.55588	0.51;0.57	5.92	5.92	0.95590	.	0.050099	0.85682	D	0.000000	T	0.71728	0.3374	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.69307	0.963;0.889	T	0.72597	-0.4245	10	0.45353	T	0.12	.	16.3526	0.83220	1.0:0.0:0.0:0.0	.	402;402	E5RHS3;O60284	.;ST18_HUMAN	T	402	ENSP00000276480:I402T;ENSP00000428521:I402T	ENSP00000276480:I402T	I	-	2	0	ST18	53240338	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.177000	0.94849	2.255000	0.74692	0.533000	0.62120	ATT		0.423	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		Missense_Mutation
DPY19L4	286148	broad.mit.edu	37	8	95746894	95746894	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr8:95746894G>A	ENST00000414645.2	+	3	263	c.164G>A	c.(163-165)gGc>gAc	p.G55D		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	55						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.G55D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATTTTCATTGGCTGTCTTGCA	0.338																																																1	Substitution - Missense(1)	ovary(1)	8											96.0	89.0	92.0					8																	95746894		2203	4300	6503	95816070	SO:0001583	missense	286148				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.164G>A	8.37:g.95746894G>A	ENSP00000389630:p.Gly55Asp		95816070	Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664308	0.88251	.	.	ENSG00000156162	ENST00000414645;ENST00000519176	T;T	0.68903	-0.36;0.63	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.73984	0.3657	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77459	-0.2580	10	0.66056	D	0.02	-5.971	18.7653	0.91869	0.0:0.0:1.0:0.0	.	55	Q7Z388	D19L4_HUMAN	D	55;26	ENSP00000389630:G55D;ENSP00000430417:G26D	ENSP00000389630:G55D	G	+	2	0	DPY19L4	95816070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.336000	0.90033	2.480000	0.83734	0.591000	0.81541	GGC		0.338	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787	
COL22A1	169044	broad.mit.edu	37	8	139618624	139618624	+	Splice_Site	SNP	C	C	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr8:139618624C>T	ENST00000303045.6	-	58	4550	c.4104G>A	c.(4102-4104)ccG>ccA	p.P1368P	COL22A1_ENST00000435777.1_Splice_Site_p.P1348P|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1368	Collagen-like 13.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P1368P(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTCTGCTTACCGGAGGCCCAC	0.557										HNSCC(7;0.00092)																																						1	Substitution - coding silent(1)	ovary(1)	8											40.0	44.0	43.0					8																	139618624		2203	4300	6503	139687806	SO:0001630	splice_region_variant	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4104+1G>A	8.37:g.139618624C>T			139687806	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																				0.557	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Silent
ELAVL2	1993	broad.mit.edu	37	9	23692598	23692598	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr9:23692598A>T	ENST00000397312.2	-	7	1311	c.1037T>A	c.(1036-1038)gTa>gAa	p.V346E	ELAVL2_ENST00000544538.1_Missense_Mutation_p.V346E|ELAVL2_ENST00000223951.6_Missense_Mutation_p.V333E|ELAVL2_ENST00000380110.4_Missense_Mutation_p.V376E|ELAVL2_ENST00000380117.1_Missense_Mutation_p.V346E	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	346	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V346E(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GACCTGCAGTACTCTGTCTCC	0.408																																																1	Substitution - Missense(1)	ovary(1)	9											70.0	64.0	66.0					9																	23692598		2203	4300	6503	23682598	SO:0001583	missense	1993			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.1037T>A	9.37:g.23692598A>T	ENSP00000380479:p.Val346Glu		23682598	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.978621	0.53720	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.18800	0.0451	N	0.11427	0.14	0.80722	D	1	P;P	0.49358	0.923;0.908	P;P	0.59056	0.826;0.851	T	0.13229	-1.0517	10	0.72032	D	0.01	.	16.4023	0.83644	1.0:0.0:0.0:0.0	.	346;333	Q12926;Q12926-2	ELAV2_HUMAN;.	E	333;346;346;333;346;374	ENSP00000223951:V333E;ENSP00000380479:V346E;ENSP00000440998:V346E;ENSP00000369460:V346E	ENSP00000223951:V333E	V	-	2	0	ELAVL2	23682598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.866000	0.92307	2.274000	0.75844	0.528000	0.53228	GTA		0.408	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	
ZNF462	58499	broad.mit.edu	37	9	109691199	109691199	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr9:109691199G>C	ENST00000277225.5	+	3	5295	c.5006G>C	c.(5005-5007)tGc>tCc	p.C1669S	ZNF462_ENST00000457913.1_Missense_Mutation_p.C1669S|ZNF462_ENST00000441147.2_Missense_Mutation_p.C514S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1669					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C1669S(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGTACTTCTGCTCCACGAGG	0.577																																																1	Substitution - Missense(1)	ovary(1)	9											133.0	120.0	125.0					9																	109691199		2203	4300	6503	108731020	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5006G>C	9.37:g.109691199G>C	ENSP00000277225:p.Cys1669Ser		108731020	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859718	0.51376	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06849	3.25;3.67;3.74;3.73	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.981;1.0	P;D	0.87578	0.781;0.998	T	0.01232	-1.1411	10	0.45353	T	0.12	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1669;1669	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	S	1669;1669;552;514	ENSP00000277225:C1669S;ENSP00000414570:C1669S;ENSP00000363818:C552S;ENSP00000397306:C514S	ENSP00000277225:C1669S	C	+	2	0	ZNF462	108731020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.598000	0.82745	2.861000	0.98227	0.655000	0.94253	TGC		0.577	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
SAGE1	55511	broad.mit.edu	37	X	134992667	134992667	+	Missense_Mutation	SNP	G	G	A	rs139744161		TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chrX:134992667G>A	ENST00000370709.3	+	15	1958	c.1958G>A	c.(1957-1959)cGt>cAt	p.R653H	SAGE1_ENST00000535938.1_Missense_Mutation_p.R653H|SAGE1_ENST00000324447.3_Missense_Mutation_p.R653H|SAGE1_ENST00000537770.1_Missense_Mutation_p.R277H			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	653						nucleus (GO:0005634)		p.R653H(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCATGGCTTCGTCATATGGCA	0.463																																																1	Substitution - Missense(1)	ovary(1)	X						G	HIS/ARG	0,3835		0,0,1632,571	163.0	134.0	144.0		1958	-1.0	0.0	X	dbSNP_134	144	1,6727		0,1,2427,1872	no	missense	SAGE1	NM_018666.2	29	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging	653/905	134992667	1,10562	2203	4300	6503	134820333	SO:0001583	missense	55511			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1958G>A	X.37:g.134992667G>A	ENSP00000359743:p.Arg653His		134820333	Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	9.709	1.156643	0.21454	0.0	1.49E-4	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.37058	1.22;1.22;1.38;1.22	0.494	-0.987	0.10249	.	0.898181	0.09256	U	0.827187	T	0.26882	0.0658	N	0.08118	0	0.09310	N	1	P;D	0.67145	0.956;0.996	B;P	0.56788	0.135;0.806	T	0.14839	-1.0458	9	0.35671	T	0.21	.	.	.	.	.	277;653	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	H	653;653;277;653	ENSP00000323191:R653H;ENSP00000445959:R653H;ENSP00000438276:R277H;ENSP00000359743:R653H	ENSP00000323191:R653H	R	+	2	0	SAGE1	134820333	0.031000	0.19500	0.001000	0.08648	0.012000	0.07955	-0.093000	0.11111	-0.514000	0.06488	0.287000	0.19450	CGT		0.463	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666	
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr17:7577105G>T	ENST00000269305.4	-	8	1022	c.833C>A	c.(832-834)cCt>cAt	p.P278H	TP53_ENST00000359597.4_Missense_Mutation_p.P278H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.P278H|TP53_ENST00000455263.2_Missense_Mutation_p.P278H|TP53_ENST00000420246.2_Missense_Mutation_p.P278H	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GTCTCTCCCAGGACAGGCACA	0.552		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"""	128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(1)	17	GRCh37	CM961376	TP53	M							72.0	63.0	66.0					17																	7577105		2203	4300	6503	7517830	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.833C>A	17.37:g.7577105G>T	ENSP00000269305:p.Pro278His		7517830	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532212	0.85812	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99887	-7.53;-7.53;-7.53;-7.53;-7.53;-7.53	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96442	0.9327	10	0.87932	D	0	-13.7877	11.4227	0.49991	0.0873:0.0:0.9127:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	278;278;278;278;278;267;146	ENSP00000352610:P278H;ENSP00000269305:P278H;ENSP00000398846:P278H;ENSP00000391127:P278H;ENSP00000391478:P278H;ENSP00000425104:P146H	ENSP00000269305:P278H	P	-	2	0	TP53	7517830	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.573000	0.98181	1.392000	0.46585	0.462000	0.41574	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
BRD2	6046	broad.mit.edu	37	6	32944598	32944599	+	Frame_Shift_Ins	INS	-	-	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	-	-	T	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr6:32944598_32944599insT	ENST00000374825.4	+	7	2786_2787	c.1085_1086insT	c.(1084-1089)tctaagfs	p.K363fs	BRD2_ENST00000395289.2_Frame_Shift_Ins_p.K363fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.K363fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.K363fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.K243fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.K316fs	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	363					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.K363fs*1(1)		central_nervous_system(3)|stomach(2)	5						GAGTTACTCTCTAAGAAGCATG	0.446																																																1	Insertion - Frameshift(1)	ovary(1)	6																																								33052577	SO:0001589	frameshift_variant	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1086dupT	6.37:g.32944599_32944599dupT	ENSP00000363958:p.Lys363fs		33052576	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Frame_Shift_Ins	INS	ENST00000374825.4	37	CCDS4762.1																																																																																				0.446	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2		
