#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_classification	i_context	i_dataset	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
HSPG2	3339	broad.mit.edu	37	1	22222770	22222770	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-2088-01	TCGA-61-2088-11	g.chr1:22222770A>G	ENST00000374695.3	-	2	176	c.97T>C	c.(97-99)Tct>Cct	p.S33P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	33					angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.S33P(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TCAGGCAGAGACAAGCCATCG	0.557																																																1	Substitution - Missense(1)	ovary(1)	1											242.0	200.0	214.0					1																	22222770		2203	4300	6503	22095357	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.97T>C	1.37:g.22222770A>G	ENSP00000363827:p.Ser33Pro		22095357	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	SNP	10	Broad	.	.	.	.	.	.	.	.	.	.	A	15.97	2.988552	0.53934	.	.	ENSG00000142798	ENST00000374695;ENST00000412328	T;T	0.79141	-1.24;0.31	4.85	4.85	0.62838	.	0.309418	0.20560	N	0.089934	T	0.65428	0.2690	L	0.27053	0.805	0.31014	N	0.718863	B	0.31153	0.31	B	0.28638	0.092	T	0.70626	-0.4820	10	0.72032	D	0.01	.	11.1154	0.48258	1.0:0.0:0.0:0.0	.	33	P98160	PGBM_HUMAN	P	33;12	ENSP00000363827:S33P;ENSP00000405412:S12P	ENSP00000363827:S33P	S	-	1	0	HSPG2	22095357	0.994000	0.37717	0.853000	0.33588	0.389000	0.30415	3.200000	0.51051	1.936000	0.56123	0.523000	0.50628	TCT		0.557	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		Missense_Mutation
USP21	27005	broad.mit.edu	37	1	161130818	161130818	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-2088-01	TCGA-61-2088-11	g.chr1:161130818C>T	ENST00000289865.8	+	2	609	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	USP21_ENST00000368002.3_Missense_Mutation_p.R130C|USP21_ENST00000368001.1_Missense_Mutation_p.R130C|RP11-297K8.2_ENST00000420498.1_RNA	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	130					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R130C(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGGAGGGCACCGTGGCACCGG	0.627																																																1	Substitution - Missense(1)	ovary(1)	1											80.0	74.0	76.0					1																	161130818		2203	4300	6503	159397442	SO:0001583	missense	27005			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.388C>T	1.37:g.161130818C>T	ENSP00000289865:p.Arg130Cys		159397442	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	CCDS30920.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692493	0.68271	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.45276	0.9;0.9;0.9	5.14	4.22	0.49857	.	0.632380	0.15419	N	0.263349	T	0.19005	0.0456	N	0.14661	0.345	0.41672	D	0.98924	D	0.63880	0.993	B	0.44315	0.446	T	0.06285	-1.0835	10	0.59425	D	0.04	.	14.7737	0.69699	0.0:0.8546:0.1453:0.0	.	130	Q9UK80	UBP21_HUMAN	C	130	ENSP00000356981:R130C;ENSP00000289865:R130C;ENSP00000356980:R130C	ENSP00000289865:R130C	R	+	1	0	USP21	159397442	0.813000	0.29090	0.869000	0.34112	0.993000	0.82548	1.707000	0.37888	1.381000	0.46364	0.561000	0.74099	CGT		0.627	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			Missense_Mutation
RERG	85004	broad.mit.edu	37	12	15262110	15262110	+	Silent	SNP	C	C	T			TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-2088-01	TCGA-61-2088-11	g.chr12:15262110C>T	ENST00000256953.2	-	5	870	c.534G>A	c.(532-534)agG>agA	p.R178R	RERG_ENST00000536465.1_Silent_p.R178R|RERG_ENST00000546331.1_Silent_p.R159R|RERG_ENST00000538313.1_Silent_p.R178R	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	178					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R178R(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						AGCTGCGTCGCCTCGTCTTGC	0.527																																																1	Substitution - coding silent(1)	ovary(1)	12											125.0	117.0	120.0					12																	15262110		2203	4300	6503	15153377	SO:0001819	synonymous_variant	85004			AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.534G>A	12.37:g.15262110C>T			15153377	B2R9R0|B4DI02	Silent	SNP	ENST00000256953.2	37	CCDS8673.1	SNP	26	Broad																																																																																				0.527	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		Silent
ZNF140	7699	broad.mit.edu	37	12	133659687	133659687	+	Splice_Site	SNP	A	A	C			TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-2088-01	TCGA-61-2088-11	g.chr12:133659687A>C	ENST00000355557.2	+	3	1292		c.e3-1		ZNF140_ENST00000319849.3_Splice_Site|ZNF140_ENST00000440550.2_Splice_Site|ZNF140_ENST00000544426.1_Intron	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CCGTCATTTCAGGGGTCAGTG	0.473																																																1	Unknown(1)	ovary(1)	12											0.0	1.0	1.0					12																	133659687		0	2	2	132169760	SO:0001630	splice_region_variant	7699			U09368	CCDS9282.1, CCDS73550.1	12q24.33	2013-01-08	2006-06-13		ENSG00000196387	ENSG00000196387		"""Zinc fingers, C2H2-type"", ""-"""	12925	protein-coding gene	gene with protein product		604082	"""zinc finger protein 140 (clone pHZ-39)"""			7557990	Standard	XR_245353		Approved	pHZ-39	uc001ulo.3	P52738	OTTHUMG00000167942	ENST00000355557.2:c.10-1A>C	12.37:g.133659687A>C			132169760	D3DXJ3|Q05CP6|Q8IV75	Splice_Site_SNP	SNP	ENST00000355557.2	37	CCDS9282.1	SNP	7	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.06|14.06	2.421932|2.421932	0.43020|0.43020	.|.	.|.	ENSG00000196387|ENSG00000196387	ENST00000355557;ENST00000356456;ENST00000440984;ENST00000319849;ENST00000440550|ENST00000429434	.|T	.|0.01051	.|5.4	2.89|2.89	2.89|2.89	0.33648|0.33648	.|.	.|.	.|.	.|.	.|.	.|T	.|0.02649	.|0.0080	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.55503	.|-0.8131	.|6	.|0.66056	.|D	.|0.02	.|.	7.6177|7.6177	0.28167|0.28167	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|P	-1|19	.|ENSP00000415499:Q19P	.|ENSP00000415499:Q19P	.|Q	+|+	.|2	.|0	ZNF140|ZNF140	132169760|132169760	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.851000|0.851000	0.48451|0.48451	3.937000|3.937000	0.56575|0.56575	1.564000|1.564000	0.49628|0.49628	0.460000|0.460000	0.39030|0.39030	.|CAG		0.473	ZNF140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397169.1	NM_003440	Intron	Splice_Site_SNP
GPR132	29933	broad.mit.edu	37	14	105518022	105518022	+	Missense_Mutation	SNP	C	C	T	rs569054802		TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-2088-01	TCGA-61-2088-11	g.chr14:105518022C>T	ENST00000329797.3	-	4	1363	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	GPR132_ENST00000392585.2_Missense_Mutation_p.R142Q|GPR132_ENST00000539291.2_Missense_Mutation_p.R151Q|GPR132_ENST00000546679.1_5'UTR	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	151	Poly-Arg.				G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R151Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GCGGCGGCCCCGACTCTCCAG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		17683	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	14											69.0	65.0	66.0					14																	105518022		2203	4300	6503	104589067	SO:0001583	missense	29933			AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.452G>A	14.37:g.105518022C>T	ENSP00000328818:p.Arg151Gln		104589067	A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	CCDS9997.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	15.29	2.788526	0.49997	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.72282	-0.64;-0.64;-0.64	4.97	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.518595	0.16719	N	0.202350	T	0.75451	0.3851	M	0.63169	1.94	0.19300	N	0.99998	D;D	0.69078	0.997;0.997	P;P	0.60541	0.876;0.876	T	0.63567	-0.6608	10	0.16420	T	0.52	.	9.7725	0.40598	0.0:0.8321:0.0:0.1679	.	142;151	B4E144;Q9UNW8	.;GP132_HUMAN	Q	151;142;151	ENSP00000328818:R151Q;ENSP00000376364:R142Q;ENSP00000438094:R151Q	ENSP00000328818:R151Q	R	-	2	0	GPR132	104589067	0.521000	0.26258	0.180000	0.23079	0.092000	0.18411	1.195000	0.32186	1.077000	0.40990	0.563000	0.77884	CGG		0.617	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		Missense_Mutation
MYH1	4619	broad.mit.edu	37	17	10398315	10398315	+	Missense_Mutation	SNP	C	C	T	rs145148453		TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-2088-01	TCGA-61-2088-11	g.chr17:10398315C>T	ENST00000226207.5	-	37	5493	c.5399G>A	c.(5398-5400)cGt>cAt	p.R1800H	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1800					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1800H(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCATCCAGACGATGCTGCAG	0.557																																																1	Substitution - Missense(1)	ovary(1)	17						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	144.0	139.0	141.0		5399	5.3	1.0	17	dbSNP_134	141	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH1	NM_005963.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	1800/1940	10398315	2,13004	2203	4300	6503	10339040	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5399G>A	17.37:g.10398315C>T	ENSP00000226207:p.Arg1800His		10339040	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516170	0.85495	2.27E-4	1.16E-4	ENSG00000109061	ENST00000226207	D	0.82526	-1.62	5.26	5.26	0.73747	Myosin tail (1);	0.000000	0.44097	U	0.000488	D	0.91553	0.7332	H	0.97918	4.105	0.58432	D	0.999999	P	0.47106	0.89	P	0.44990	0.466	D	0.94554	0.7756	10	0.87932	D	0	.	19.2282	0.93825	0.0:1.0:0.0:0.0	.	1800	P12882	MYH1_HUMAN	H	1800	ENSP00000226207:R1800H	ENSP00000226207:R1800H	R	-	2	0	MYH1	10339040	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	6.042000	0.70996	2.616000	0.88540	0.561000	0.74099	CGT		0.557	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		Missense_Mutation
SUPT6H	6830	broad.mit.edu	37	17	27005898	27005898	+	Silent	SNP	T	T	G			TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-2088-01	TCGA-61-2088-11	g.chr17:27005898T>G	ENST00000314616.6	+	11	1549	c.1266T>G	c.(1264-1266)gcT>gcG	p.A422A	SUPT6H_ENST00000347486.4_Silent_p.A422A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	422	Interaction with IWS1. {ECO:0000250}.|Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A422A(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGATGCAGGCTTATCAGTATG	0.512																																																1	Substitution - coding silent(1)	ovary(1)	17											134.0	127.0	129.0					17																	27005898		2203	4300	6503	24030025	SO:0001819	synonymous_variant	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1266T>G	17.37:g.27005898T>G			24030025	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	CCDS32596.1	SNP	56	Broad																																																																																				0.512	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		Silent
ANKRD13B	124930	broad.mit.edu	37	17	27937716	27937716	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-2088-01	TCGA-61-2088-11	g.chr17:27937716C>G	ENST00000394859.3	+	8	990	c.836C>G	c.(835-837)tCt>tGt	p.S279C	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	279						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.S279C(1)		cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						TATGGGGCATCTAACGTGGAG	0.532																																																1	Substitution - Missense(1)	ovary(1)	17											120.0	94.0	103.0					17																	27937716		2203	4300	6503	24961842	SO:0001583	missense	124930			AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.836C>G	17.37:g.27937716C>G	ENSP00000378328:p.Ser279Cys		24961842	Q8N7S9	Missense_Mutation	SNP	ENST00000394859.3	37	CCDS11251.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639482	0.87760	.	.	ENSG00000198720	ENST00000394859	T	0.48522	0.81	5.86	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	M	0.82517	2.595	0.80722	D	1	P	0.37688	0.605	P	0.52343	0.696	T	0.72114	-0.4388	10	0.66056	D	0.02	-28.9271	15.9124	0.79482	0.0:0.8641:0.1359:0.0	.	279	Q86YJ7	AN13B_HUMAN	C	279	ENSP00000378328:S279C	ENSP00000378328:S279C	S	+	2	0	ANKRD13B	24961842	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.131000	0.42074	1.459000	0.47892	0.650000	0.86243	TCT		0.532	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		Missense_Mutation
FARSA	2193	broad.mit.edu	37	19	13039613	13039613	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-2088-01	TCGA-61-2088-11	g.chr19:13039613G>T	ENST00000314606.4	-	5	570	c.552C>A	c.(550-552)agC>agA	p.S184R	FARSA_ENST00000423140.2_Intron|CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000588025.1_Missense_Mutation_p.S224R	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	184					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.S184R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GCTTGGAGATGCTGGTACTAA	0.617																																																1	Substitution - Missense(1)	ovary(1)	19											136.0	116.0	123.0					19																	13039613		2203	4300	6503	12900613	SO:0001583	missense	2193			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.552C>A	19.37:g.13039613G>T	ENSP00000320309:p.Ser184Arg		12900613	B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	CCDS12287.1	SNP	46	Broad	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866066	0.32977	.	.	ENSG00000179115	ENST00000314606	T	0.63744	-0.06	4.94	0.349	0.16032	.	0.096183	0.64402	D	0.000001	T	0.52805	0.1757	M	0.64997	1.995	0.40810	D	0.983419	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.002	T	0.43294	-0.9400	10	0.33141	T	0.24	-15.9222	8.7979	0.34890	0.4004:0.0:0.5996:0.0	.	184;184	Q6IBR2;Q9Y285	.;SYFA_HUMAN	R	184	ENSP00000320309:S184R	ENSP00000320309:S184R	S	-	3	2	FARSA	12900613	0.001000	0.12720	0.827000	0.32855	0.995000	0.86356	-0.364000	0.07583	0.021000	0.15133	0.563000	0.77884	AGC		0.617	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		Missense_Mutation
LRP1B	53353	broad.mit.edu	37	2	141202204	141202204	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-2088-01	TCGA-61-2088-11	g.chr2:141202204G>A	ENST00000389484.3	-	64	11073	c.10102C>T	c.(10102-10104)Ctc>Ttc	p.L3368F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3368	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L3368F(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAGCACAGAGTCCAGTCCCA	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	ovary(1)	2											98.0	91.0	94.0					2																	141202204		2203	4300	6503	140918674	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10102C>T	2.37:g.141202204G>A	ENSP00000374135:p.Leu3368Phe		140918674	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524692	0.85600	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95482	-3.72	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000002	D	0.94892	0.8349	N	0.25144	0.715	0.49687	D	0.999816	D	0.63880	0.993	P	0.61070	0.883	D	0.95049	0.8185	10	0.59425	D	0.04	.	14.9344	0.70941	0.0:0.0:0.857:0.143	.	3368	Q9NZR2	LRP1B_HUMAN	F	3368;3306	ENSP00000374135:L3368F	ENSP00000374135:L3368F	L	-	1	0	LRP1B	140918674	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	4.526000	0.60566	2.767000	0.95098	0.563000	0.77884	CTC		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		Missense_Mutation
RTP3	83597	broad.mit.edu	37	3	46542042	46542042	+	Silent	SNP	C	C	T			TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-2088-01	TCGA-61-2088-11	g.chr3:46542042C>T	ENST00000296142.3	+	2	924	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	118					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.L118L(1)		endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCTGAAAAACCTGGTGTTCCG	0.448																																																1	Substitution - coding silent(1)	ovary(1)	3											94.0	96.0	95.0					3																	46542042		2203	4300	6503	46517046	SO:0001819	synonymous_variant	83597			AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"""Receptor transporter proteins"""	15572	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 3"""	607181	"""transmembrane protein 7"", ""receptor transporter protein 3"""	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.352C>T	3.37:g.46542042C>T			46517046	A2RRP6	Silent	SNP	ENST00000296142.3	37	CCDS2740.1	SNP	24	Broad																																																																																				0.448	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		Silent
MED12L	116931	broad.mit.edu	37	3	151105912	151105912	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-2088-01	TCGA-61-2088-11	g.chr3:151105912G>T	ENST00000474524.1	+	35	5336	c.5298G>T	c.(5296-5298)aaG>aaT	p.K1766N	MED12L_ENST00000273432.4_Missense_Mutation_p.K1626N	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1766						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.K1766K(1)|p.K1766N(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGAAGAAAAGAAAACAAAAG	0.448																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	upper_aerodigestive_tract(1)|ovary(1)	3											52.0	50.0	51.0					3																	151105912		2203	4300	6503	152588602	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5298G>T	3.37:g.151105912G>T	ENSP00000417235:p.Lys1766Asn		152588602	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321053	0.60634	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.62105	0.25;0.05	5.81	4.93	0.64822	.	0.099058	0.64402	D	0.000002	T	0.68824	0.3043	L	0.32530	0.975	0.53005	D	0.999964	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.80764	0.994;0.991;0.987	T	0.65821	-0.6075	10	0.35671	T	0.21	-28.5688	14.8431	0.70240	0.0704:0.0:0.9296:0.0	.	1626;1765;1766	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	N	1766;1626	ENSP00000417235:K1766N;ENSP00000273432:K1626N	ENSP00000273432:K1626N	K	+	3	2	MED12L	152588602	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.137000	0.64789	2.746000	0.94184	0.655000	0.94253	AAG		0.448	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		Missense_Mutation
TRMT44	152992	broad.mit.edu	37	4	8477664	8477664	+	Missense_Mutation	SNP	C	C	T	rs576421639		TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-2088-01	TCGA-61-2088-11	g.chr4:8477664C>T	ENST00000389737.4	+	11	2210	c.2210C>T	c.(2209-2211)cCg>cTg	p.P737L	TRMT44_ENST00000511366.2_3'UTR	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	737					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.P345L(1)									GACTGCTGCCCGTTTGCCCAT	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18030	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	4											110.0	117.0	115.0					4																	8477664		2203	4300	6503	8528564	SO:0001583	missense	152992			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.2210C>T	4.37:g.8477664C>T	ENSP00000374387:p.Pro737Leu		8528564	Q8NA95	Missense_Mutation	SNP	ENST00000389737.4	37	CCDS3402.2	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398371	0.25205	.	.	ENSG00000155275	ENST00000389737;ENST00000285635	T	0.18338	2.22	5.32	4.48	0.54585	Zinc finger, CCCH-type (1);	0.141026	0.48767	D	0.000177	T	0.17534	0.0421	L	0.53671	1.685	0.44469	D	0.997408	B	0.14012	0.009	B	0.13407	0.009	T	0.02736	-1.1117	10	0.52906	T	0.07	-22.1768	9.8743	0.41194	0.1383:0.7887:0.0:0.073	.	737	Q8IYL2	TRM44_HUMAN	L	737;345	ENSP00000374387:P737L	ENSP00000285635:P345L	P	+	2	0	METTL19	8528564	0.903000	0.30736	0.855000	0.33649	0.005000	0.04900	2.273000	0.43381	1.249000	0.43950	-0.137000	0.14449	CCG		0.622	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		Missense_Mutation
MAP3K1	4214	broad.mit.edu	37	5	56181765	56181765	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-2088-01	TCGA-61-2088-11	g.chr5:56181765C>T	ENST00000399503.3	+	17	3989	c.3989C>T	c.(3988-3990)tCg>tTg	p.S1330L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1330	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATAGGGGGATCGGTGGCTCAT	0.343																																																0			5											76.0	70.0	72.0					5																	56181765		1823	4067	5890	56217522	SO:0001583	missense	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3989C>T	5.37:g.56181765C>T	ENSP00000382423:p.Ser1330Leu		56217522		Missense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760742	0.89932	.	.	ENSG00000095015	ENST00000399503	T	0.30981	1.51	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58163	0.2103	M	0.74467	2.265	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.61372	-0.7076	10	0.87932	D	0	.	19.414	0.94688	0.0:1.0:0.0:0.0	.	1330	Q13233	M3K1_HUMAN	L	1330	ENSP00000382423:S1330L	ENSP00000382423:S1330L	S	+	2	0	MAP3K1	56217522	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.743000	0.62110	2.591000	0.87537	0.655000	0.94253	TCG		0.343	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		Missense_Mutation
COL11A2	1302	broad.mit.edu	37	6	33141811	33141811	+	Missense_Mutation	SNP	G	G	A	rs553959025		TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-2088-01	TCGA-61-2088-11	g.chr6:33141811G>A	ENST00000374708.4	-	31	2506	c.2248C>T	c.(2248-2250)Cct>Tct	p.P750S	COL11A2_ENST00000341947.2_Missense_Mutation_p.P836S|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.P755S|COL11A2_ENST00000374713.1_Missense_Mutation_p.P789S|COL11A2_ENST00000361917.1_Missense_Mutation_p.P729S|COL11A2_ENST00000395197.1_Missense_Mutation_p.P776S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P810S|COL11A2_ENST00000357486.1_Missense_Mutation_p.P815S	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	836	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P836S(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCTCCCCGAGGCCCTGACTTC	0.617																																					Melanoma(1;90 116 3946 5341 17093)											1	Substitution - Missense(1)	ovary(1)	6											55.0	56.0	56.0					6																	33141811		1511	2709	4220	33249789	SO:0001583	missense	1302			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2248C>T	6.37:g.33141811G>A	ENSP00000363840:p.Pro750Ser		33249789	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	CCDS43452.1	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431979	0.62844	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	L	0.41492	1.28	0.80722	D	1	B;B;D	0.89917	0.147;0.147;1.0	B;B;D	0.79108	0.092;0.091;0.992	T	0.51919	-0.8644	10	0.51188	T	0.08	.	14.6041	0.68463	0.0:0.0:1.0:0.0	.	729;750;836	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	S	750;836;815;810;789;776;755;729	ENSP00000363840:P750S;ENSP00000339915:P836S;ENSP00000350079:P815S;ENSP00000363846:P810S;ENSP00000363845:P789S;ENSP00000378623:P776S;ENSP00000363844:P755S;ENSP00000355123:P729S	ENSP00000339915:P836S	P	-	1	0	COL11A2	33249789	1.000000	0.71417	0.988000	0.46212	0.924000	0.55760	4.005000	0.57075	2.306000	0.77630	0.448000	0.29417	CCT		0.617	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			Missense_Mutation
WNT2	7472	broad.mit.edu	37	7	116955206	116955206	+	Silent	SNP	G	G	A	rs370359868		TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-2088-01	TCGA-61-2088-11	g.chr7:116955206G>A	ENST00000265441.3	-	3	806	c.507C>T	c.(505-507)cgC>cgT	p.R169R	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	169					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.R169R(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCACAAATGCGCGGGCAAATT	0.483																																																1	Substitution - coding silent(1)	ovary(1)	7						G		0,4406		0,0,2203	140.0	128.0	132.0		507	-11.3	0.4	7		132	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	WNT2	NM_003391.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		169/361	116955206	2,13004	2203	4300	6503	116742442	SO:0001819	synonymous_variant	7472			X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.507C>T	7.37:g.116955206G>A			116742442	A4D0V1|Q75N05|Q9UDP9	Silent	SNP	ENST00000265441.3	37	CCDS5771.1	SNP	38	Broad																																																																																				0.483	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		Silent
PIGA	5277	broad.mit.edu	37	X	15349505	15349505	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-2088-01	TCGA-61-2088-11	g.chrX:15349505C>T	ENST00000333590.4	-	2	632	c.548G>A	c.(547-549)tGt>tAt	p.C183Y	PIGA_ENST00000428964.1_Intron|PIGA_ENST00000482148.1_Intron|PIGA_ENST00000542278.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	183					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)	p.C183Y(1)		endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					ATAAGACACACAAATGATGTG	0.413																																																1	Substitution - Missense(1)	ovary(1)	X											123.0	99.0	107.0					X																	15349505		2203	4300	6503	15259426	SO:0001583	missense	5277			BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.548G>A	X.37:g.15349505C>T	ENSP00000369820:p.Cys183Tyr		15259426	B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	ENST00000333590.4	37	CCDS14165.1	SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926656	0.73327	.	.	ENSG00000165195	ENST00000333590	T	0.76060	-0.99	5.88	5.88	0.94601	.	0.080951	0.85682	D	0.000000	D	0.87354	0.6156	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88623	0.3164	10	0.87932	D	0	-9.7569	18.0155	0.89239	0.0:1.0:0.0:0.0	.	183	P37287	PIGA_HUMAN	Y	183	ENSP00000369820:C183Y	ENSP00000369820:C183Y	C	-	2	0	PIGA	15259426	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.456000	0.80751	2.476000	0.83614	0.544000	0.68410	TGT		0.413	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7577563	7577571	+	In_Frame_Del	DEL	TGTTACACA	TGTTACACA	-	rs193920789|rs397516437|rs587782664		TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-61-2088-01	TCGA-61-2088-11	g.chr17:7577563_7577571delTGTTACACA	ENST00000269305.4	-	7	899_907	c.710_718delTGTGTAACA	c.(709-720)atgtgtaacagt>agt	p.MCN237del	TP53_ENST00000413465.2_In_Frame_Del_p.MCN237del|TP53_ENST00000359597.4_In_Frame_Del_p.MCN237del|TP53_ENST00000455263.2_In_Frame_Del_p.MCN237del|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_In_Frame_Del_p.MCN237del|TP53_ENST00000445888.2_In_Frame_Del_p.MCN237del	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M237I(109)|p.C238Y(65)|p.C238F(46)|p.N239D(33)|p.N239S(28)|p.C238S(21)|p.N239fs*25(14)|p.S240G(14)|p.C238R(14)|p.M237K(11)|p.0?(8)|p.N239K(7)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.M144I(4)|p.N239T(4)|p.M237_N239delMCN(4)|p.C238G(4)|p.C238*(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.S240C(3)|p.M237R(3)|p.N239_S240insX(2)|p.N239fs*8(2)|p.C238W(2)|p.S240fs*7(2)|p.M237fs*10(2)|p.N239_S240delNS(2)|p.M237T(2)|p.M144K(1)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.S240P(1)|p.H233_C242del10(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.C238fs*21(1)|p.C238C(1)|p.N239I(1)|p.M237fs*1(1)|p.N239N(1)|p.C145S(1)|p.S240R(1)|p.H233fs*6(1)|p.S240fs*26(1)|p.Y236_M237delYM(1)|p.N239*(1)|p.S240fs*23(1)|p.N239_C242>S(1)|p.N239fs*>48(1)|p.N146fs*>10(1)|p.C238fs*2(1)|p.C145G(1)|p.C238_N239insX(1)|p.N239_C242del(1)|p.M237_C238insX(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)	ATGCAGGAACTGTTACACATGTAGTTGTA	0.579		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"""	478	Substitution - Missense(396)|Insertion - Frameshift(24)|Deletion - In frame(16)|Deletion - Frameshift(14)|Whole gene deletion(8)|Substitution - Nonsense(5)|Insertion - In frame(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)|Complex - insertion inframe(1)|Complex - deletion inframe(1)	ovary(52)|breast(52)|lung(51)|large_intestine(43)|upper_aerodigestive_tract(42)|haematopoietic_and_lymphoid_tissue(39)|endometrium(27)|oesophagus(27)|central_nervous_system(26)|urinary_tract(19)|liver(17)|biliary_tract(15)|soft_tissue(14)|stomach(13)|pancreas(12)|bone(9)|prostate(6)|skin(5)|kidney(5)|thyroid(2)|meninges(1)|testis(1)	17	GRCh37	CM011014|CM025271|CM034930|CM056070	TP53	M																																				7518296	SO:0001651	inframe_deletion	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.710_718delTGTGTAACA	17.37:g.7577563_7577571delTGTTACACA	ENSP00000269305:p.Met237_Asn239del		7518288	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	ENST00000269305.4	37	CCDS11118.1	DEL	55	Broad																																																																																				0.579	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		In_Frame_Del
ZNF717	100131827	broad.mit.edu	37	3	75786818	75786826	+	In_Frame_Del	DEL	ACATTCATT	ACATTCATT	-	rs201263569|rs550801385|rs57577072	byFrequency	TCGA-61-2088-01	TCGA-61-2088-11							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-61-2088-01	TCGA-61-2088-11	g.chr3:75786818_75786826delACATTCATT	ENST00000478296.1	-	4	2074_2082	c.1798_1806delAATGAATGT	c.(1798-1806)aatgaatgtdel	p.NEC600del	ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000400845.3_In_Frame_Del_p.NEC643del|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000422325.1_In_Frame_Del_p.NEC650del|ZNF717_ENST00000491507.1_Intron			Q9BY31	ZN717_HUMAN	zinc finger protein 717	641					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N650_C652delNEC(1)		autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						AGGTTTTTCCACATTCATTACATACGTAA	0.407																																																1	Deletion - In frame(1)	ovary(1)	3																																								75869516	SO:0001651	inframe_deletion	100131827			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.1798_1806delAATGAATGT	3.37:g.75786818_75786826delACATTCATT	ENSP00000419377:p.Asn600_Cys602del		75869508		In_Frame_Del	DEL	ENST00000478296.1	37		DEL	6	Broad																																																																																				0.407	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223		In_Frame_Del
