#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_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_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_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	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
PCBP2	5094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	53865444	53865444	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr12:53865444G>A	ENST00000439930.3	+	13	936	c.914G>A	c.(913-915)cGt>cAt	p.R305H	PCBP2_ENST00000548933.1_Missense_Mutation_p.R275H|PCBP2_ENST00000546463.1_Missense_Mutation_p.R302H|PCBP2_ENST00000359462.5_Missense_Mutation_p.R306H|PCBP2_ENST00000552819.1_Missense_Mutation_p.R262H|PCBP2_ENST00000437231.1_Missense_Mutation_p.R258H|PCBP2_ENST00000359282.5_Missense_Mutation_p.R271H|PCBP2_ENST00000549863.1_Missense_Mutation_p.R261H|PCBP2_ENST00000552296.2_Missense_Mutation_p.R301H|PCBP2_ENST00000447282.1_Missense_Mutation_p.R275H|PCBP2_ENST00000603815.1_Missense_Mutation_p.R305H|PCBP2_ENST00000455667.3_Missense_Mutation_p.R258H			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	305	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)	p.R306H(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						ATAATCGGGCGTCAAGGCGCC	0.498																																																1	Substitution - Missense(1)	central_nervous_system(1)											54.0	44.0	47.0					12																	53865444		2203	4300	6503	SO:0001583	missense	5094			BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.914G>A	12.37:g.53865444G>A	ENSP00000408949:p.Arg305His		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536741	0.65085	.	.	ENSG00000197111	ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000379777;ENST00000553064	T;T;T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.12	4.24	0.50183	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	M	0.68593	2.085	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.32010	0.001;0.055;0.009;0.027;0.009;0.351;0.055;0.02;0.02;0.033	B;B;B;B;B;B;B;B;B;B	0.29176	0.004;0.063;0.047;0.019;0.064;0.099;0.038;0.034;0.064;0.047	T	0.37798	-0.9690	10	0.87932	D	0	.	12.6068	0.56527	0.0816:0.0:0.9184:0.0	.	262;263;305;248;275;258;301;271;306;302	B4DXP5;F8VRG9;Q15366;F8VWQ4;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;PCBP2_HUMAN;.;.;.;.;.;.;.	H	271;275;258;305;261;306;248;302;301;263;262;258;275;222;135	ENSP00000352228:R271H;ENSP00000394116:R275H;ENSP00000390304:R258H;ENSP00000408949:R305H;ENSP00000447670:R261H;ENSP00000352438:R306H;ENSP00000448762:R302H;ENSP00000448927:R301H;ENSP00000449070:R262H;ENSP00000388008:R258H;ENSP00000449062:R275H	ENSP00000352228:R271H	R	+	2	0	PCBP2	52151711	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.564000	0.98151	1.396000	0.46663	0.650000	0.86243	CGT		0.498	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		6	44	6	44
LRP1	4035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	57601869	57601869	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr12:57601869G>A	ENST00000243077.3	+	77	12374	c.11908G>A	c.(11908-11910)Gga>Aga	p.G3970R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3970					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGGTGGCCGGAAACGTGTA	0.577																																																0													82.0	74.0	77.0					12																	57601869		2203	4300	6503	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11908G>A	12.37:g.57601869G>A	ENSP00000243077:p.Gly3970Arg		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630883	0.67015	.	.	ENSG00000123384	ENST00000243077	D	0.84223	-1.82	4.74	4.74	0.60224	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000001	D	0.85410	0.5690	N	0.21583	0.68	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79806	-0.1648	10	0.08599	T	0.76	.	17.0271	0.86450	0.0:0.0:1.0:0.0	.	3970	Q07954	LRP1_HUMAN	R	3970	ENSP00000243077:G3970R	ENSP00000243077:G3970R	G	+	1	0	LRP1	55888136	1.000000	0.71417	0.988000	0.46212	0.912000	0.54170	4.566000	0.60843	2.630000	0.89119	0.655000	0.94253	GGA		0.577	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		25	43	25	43
ATG2B	55102	hgsc.bcm.edu;broad.mit.edu	37	14	96798962	96798962	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr14:96798962A>G	ENST00000359933.4	-	9	2131	c.1238T>C	c.(1237-1239)aTg>aCg	p.M413T		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	413					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGACATGTCCATATCAGCCAT	0.378																																																0													91.0	89.0	90.0					14																	96798962		1836	4079	5915	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1238T>C	14.37:g.96798962A>G	ENSP00000353010:p.Met413Thr		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	A	17.52	3.410539	0.62399	.	.	ENSG00000066739	ENST00000359933	T	0.09538	2.97	6.06	6.06	0.98353	.	0.105878	0.64402	U	0.000010	T	0.22898	0.0553	L	0.32530	0.975	0.58432	D	0.999997	D	0.60160	0.987	D	0.66196	0.942	T	0.00512	-1.1696	10	0.48119	T	0.1	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	413	Q96BY7	ATG2B_HUMAN	T	413	ENSP00000353010:M413T	ENSP00000353010:M413T	M	-	2	0	ATG2B	95868715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.669000	0.91163	2.324000	0.78689	0.533000	0.62120	ATG		0.378	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		7	69	7	69
TTC23	64927	hgsc.bcm.edu;broad.mit.edu	37	15	99678265	99678265	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr15:99678265G>A	ENST00000394132.2	-	14	2111	c.1294C>T	c.(1294-1296)Cct>Tct	p.P432S	TTC23_ENST00000394135.3_Missense_Mutation_p.P432S|RP11-6O2.3_ENST00000564527.1_RNA|TTC23_ENST00000558613.1_Missense_Mutation_p.P432S|TTC23_ENST00000558663.1_Missense_Mutation_p.P432S|TTC23_ENST00000394136.1_Missense_Mutation_p.P432S|TTC23_ENST00000262074.4_Missense_Mutation_p.P432S			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	432										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GTGTCCTGAGGGATGCTGGTG	0.607																																																0													47.0	53.0	51.0					15																	99678265		1976	4144	6120	SO:0001583	missense	64927				CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.1294C>T	15.37:g.99678265G>A	ENSP00000377690:p.Pro432Ser		A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	ENST00000394132.2	37	CCDS10379.2	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418272	0.25552	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	4.67	1.62	0.23740	.	0.816706	0.10408	U	0.678305	T	0.07728	0.0194	L	0.29908	0.895	0.09310	N	0.999999	B	0.12013	0.005	B	0.12156	0.007	T	0.45160	-0.9280	10	0.08837	T	0.75	-2.1909	3.2382	0.06772	0.0978:0.1742:0.548:0.18	.	432	Q5W5X9	TTC23_HUMAN	S	432	ENSP00000377690:P432S;ENSP00000377693:P432S;ENSP00000262074:P432S;ENSP00000377692:P432S	ENSP00000262074:P432S	P	-	1	0	TTC23	97495788	0.000000	0.05858	0.001000	0.08648	0.288000	0.27193	-0.333000	0.07894	0.111000	0.17947	0.563000	0.77884	CCT		0.607	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905		5	51	5	51
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		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	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	12	13	12
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	T			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:7578176C>T	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	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						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.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	GCAAACCAGACCTCAGGCGGC	0.527		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"""	66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(1)|pancreas(1)	GRCh37	CS071266	TP53	S							80.0	75.0	77.0					17																	7578176		2203	4300	6503	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.672+1G>A	17.37:g.7578176C>T			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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024476	0.75390	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	16	25	16	25
KRT26	353288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	38926339	38926339	+	Silent	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:38926339G>A	ENST00000335552.4	-	4	765	c.717C>T	c.(715-717)aaC>aaT	p.N239N		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCACGTTCACGTTCCCCCCAG	0.488																																																0													153.0	142.0	145.0					17																	38926339		2203	4300	6503	SO:0001819	synonymous_variant	353288			AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.717C>T	17.37:g.38926339G>A				Silent	SNP	ENST00000335552.4	37	CCDS11374.1																																																																																				0.488	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		70	71	70	71
MYH14	79784	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	50720927	50720927	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr19:50720927A>G	ENST00000596571.1	+	2	461	c.461A>G	c.(460-462)tAc>tGc	p.Y154C	MYH14_ENST00000440075.2_Missense_Mutation_p.Y154C|MYH14_ENST00000598205.1_Missense_Mutation_p.Y154C|MYH14_ENST00000262269.8_Missense_Mutation_p.Y154C|MYH14_ENST00000376970.2_Missense_Mutation_p.Y154C|MYH14_ENST00000425460.1_Missense_Mutation_p.Y154C|MYH14_ENST00000601313.1_Missense_Mutation_p.Y154C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	154	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTTCCCATCTACACAGAAGCC	0.607																																																0													99.0	109.0	105.0					19																	50720927		2185	4284	6469	SO:0001583	missense	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.461A>G	19.37:g.50720927A>G	ENSP00000472819:p.Tyr154Cys		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229372	0.79688	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	4.63	4.63	0.57726	Myosin head, motor domain (3);	.	.	.	.	D	0.97158	0.9071	H	0.99011	4.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97925	1.0317	9	0.87932	D	0	.	12.3053	0.54898	1.0:0.0:0.0:0.0	.	154;154;154	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	C	154	ENSP00000406273:Y154C;ENSP00000366169:Y154C;ENSP00000407879:Y154C;ENSP00000262269:Y154C	ENSP00000262269:Y154C	Y	+	2	0	MYH14	55412739	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.083000	0.94067	2.083000	0.62718	0.533000	0.62120	TAC		0.607	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		62	84	62	84
LILRB2	10288	hgsc.bcm.edu;broad.mit.edu	37	19	54782405	54782405	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr19:54782405C>A	ENST00000391749.4	-	7	1238	c.967G>T	c.(967-969)Ggc>Tgc	p.G323C	LILRB2_ENST00000434421.1_Missense_Mutation_p.G207C|LILRB2_ENST00000314446.5_Missense_Mutation_p.G323C|LILRB2_ENST00000391748.1_Missense_Mutation_p.G323C|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391746.1_Missense_Mutation_p.G323C	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	323					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AAGGGTGTGCCACGGATCTGT	0.597																																																0													41.0	54.0	50.0					19																	54782405		2189	4300	6489	SO:0001583	missense	10288			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.967G>T	19.37:g.54782405C>A	ENSP00000375629:p.Gly323Cys		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	9.099	1.003556	0.19121	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00792	5.69;5.69;5.69;5.69;5.69	1.88	-3.77	0.04346	.	2.230900	0.02721	N	0.114037	T	0.01835	0.0058	M	0.71036	2.16	0.09310	N	1	P;P;P	0.48764	0.902;0.837;0.915	P;P;P	0.51999	0.687;0.687;0.592	T	0.35798	-0.9774	10	0.59425	D	0.04	.	0.771	0.01024	0.397:0.2545:0.1969:0.1516	.	323;340;323	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	C	323;323;323;323;207	ENSP00000375628:G323C;ENSP00000319960:G323C;ENSP00000375629:G323C;ENSP00000375626:G323C;ENSP00000410117:G207C	ENSP00000319960:G323C	G	-	1	0	LILRB2	59474217	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.207000	0.00558	-1.014000	0.03379	0.442000	0.29010	GGC		0.597	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			6	56	6	56
NPR1	4881	hgsc.bcm.edu;broad.mit.edu	37	1	153654206	153654206	+	Silent	SNP	C	C	T	rs148390726		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr1:153654206C>T	ENST00000368680.3	+	4	1534	c.1062C>T	c.(1060-1062)caC>caT	p.H354H	NPR1_ENST00000413826.1_3'UTR	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	354					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CATCCTTCCACGACGGGCTCC	0.582																																					Pancreas(141;1349 1870 15144 15830 40702)											0								C		4,4402	8.1+/-20.4	0,4,2199	85.0	75.0	78.0		1062	-4.4	0.9	1	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous	NPR1	NM_000906.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		354/1062	153654206	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1062C>T	1.37:g.153654206C>T			B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	CCDS1051.1																																																																																				0.582	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		7	112	7	112
TFCP2L1	29842	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	121991692	121991692	+	Silent	SNP	G	G	A	rs140466557	byFrequency	TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:121991692G>A	ENST00000263707.5	-	12	1270	c.1173C>T	c.(1171-1173)gaC>gaT	p.D391D		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	391					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CTCCACTGCCGTCCCGCTTCT	0.572													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20146	0.0		0.0	False		,,,				2504	0.0															0								G		2,4404	4.2+/-10.8	0,2,2201	106.0	95.0	99.0		1173	-11.6	0.0	2	dbSNP_134	99	0,8600		0,0,4300	no	coding-synonymous	TFCP2L1	NM_014553.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		391/480	121991692	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	29842			AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.1173C>T	2.37:g.121991692G>A			Q4ZG43	Silent	SNP	ENST00000263707.5	37	CCDS2134.1																																																																																				0.572	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		16	147	16	147
FKBP7	51661	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	179341854	179341854	+	Missense_Mutation	SNP	A	A	G	rs144779588		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:179341854A>G	ENST00000424785.2	-	2	366	c.308T>C	c.(307-309)aTg>aCg	p.M103T	FKBP7_ENST00000434643.2_Missense_Mutation_p.M103T|FKBP7_ENST00000464248.1_5'UTR	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	103	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TCCAGGGCACATATCTGTCAT	0.393																																					Melanoma(26;682 927 5286 17599 46613)											0													95.0	94.0	95.0					2																	179341854		2203	4300	6503	SO:0001583	missense	51661			AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150		"""EF-hand domain containing"""	3723	protein-coding gene	gene with protein product		607062	"""FK506-binding protein 7"""			9806833	Standard	NM_181342		Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.308T>C	2.37:g.179341854A>G	ENSP00000413152:p.Met103Thr		Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	Missense_Mutation	SNP	ENST00000424785.2	37	CCDS2280.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300445	0.81136	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	D;D	0.90324	-2.65;-2.65	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.96191	0.8758	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.943;0.995	D	0.96930	0.9680	10	0.87932	D	0	-9.6044	16.19	0.81981	1.0:0.0:0.0:0.0	.	103;103;103	B4DRE2;Q9Y680-3;Q9Y680-2	.;.;.	T	103	ENSP00000413152:M103T;ENSP00000415486:M103T	ENSP00000233092:M103T	M	-	2	0	FKBP7	179050100	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.962000	0.93254	2.225000	0.72522	0.460000	0.39030	ATG		0.393	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255783.1	NM_181342		50	76	50	76
NCKAP1	10787	hgsc.bcm.edu;broad.mit.edu	37	2	183829476	183829476	+	Silent	SNP	T	T	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:183829476T>C	ENST00000361354.4	-	17	2061	c.1689A>G	c.(1687-1689)tcA>tcG	p.S563S	NCKAP1_ENST00000360982.2_Silent_p.S569S	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	563					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGAGTATCTTGATTGAGAGG	0.323																																																0													111.0	105.0	107.0					2																	183829476		2203	4300	6503	SO:0001819	synonymous_variant	10787			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1689A>G	2.37:g.183829476T>C			O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	37	CCDS2287.1																																																																																				0.323	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		7	90	7	90
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			45	60	45	60
SLC34A2	10568	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	25677849	25677849	+	Silent	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr4:25677849G>A	ENST00000382051.3	+	13	1601	c.1551G>A	c.(1549-1551)ggG>ggA	p.G517G	SLC34A2_ENST00000503434.1_Silent_p.G516G|SLC34A2_ENST00000504570.1_Silent_p.G516G	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	517					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGGCCAAGGGGCTGGGCAACA	0.577			T	ROS1	NSCLC																																		Dom	yes		4	4p15.2	10568	"""solute carrier family 34 (sodium phosphate), member 2"""		E	0													164.0	142.0	150.0					4																	25677849		2203	4300	6503	SO:0001819	synonymous_variant	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1551G>A	4.37:g.25677849G>A			A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	CCDS3435.1																																																																																				0.577	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		69	106	69	106
SSBP2	23635	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	80785076	80785076	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:80785076G>T	ENST00000320672.4	-	6	635	c.425C>A	c.(424-426)cCt>cAt	p.P142H	SSBP2_ENST00000515395.1_Missense_Mutation_p.P112H|SSBP2_ENST00000514493.1_Missense_Mutation_p.P112H|SSBP2_ENST00000505980.1_Intron|SSBP2_ENST00000509053.1_Missense_Mutation_p.P112H	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	142	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TACCTGATTAGGTATCCTCAA	0.328																																																0													36.0	39.0	38.0					5																	80785076		2203	4299	6502	SO:0001583	missense	23635			AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.425C>A	5.37:g.80785076G>T	ENSP00000322977:p.Pro142His		B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	ENST00000320672.4	37	CCDS4056.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144490	0.57044	.	.	ENSG00000145687	ENST00000320672;ENST00000509053;ENST00000514493;ENST00000380182;ENST00000504985;ENST00000512923;ENST00000515395;ENST00000509013	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.78483	0.4290	M	0.74647	2.275	0.58432	D	0.999999	B;B;B;D;D	0.76494	0.109;0.024;0.176;0.999;0.999	B;B;B;D;D	0.80764	0.151;0.081;0.202;0.994;0.994	T	0.75085	-0.3442	9	0.31617	T	0.26	-4.7645	17.0462	0.86504	0.0:0.0:1.0:0.0	.	112;112;95;112;142	E9PDA8;E9PB74;A6ND70;B7Z665;P81877	.;.;.;.;SSBP2_HUMAN	H	142;112;112;95;48;48;112;138	.	ENSP00000322977:P142H	P	-	2	0	SSBP2	80820832	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.431000	0.73395	2.794000	0.96219	0.650000	0.86243	CCT		0.328	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1	NM_012446		6	34	6	34
FTMT	94033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	121188111	121188111	+	Silent	SNP	C	C	T			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:121188111C>T	ENST00000321339.1	+	1	462	c.453C>T	c.(451-453)gaC>gaT	p.D151D		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	151	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.D151D(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CGGAACAGGACGACTGGGAAA	0.582																																																1	Substitution - coding silent(1)	large_intestine(1)											89.0	88.0	88.0					5																	121188111		2203	4300	6503	SO:0001819	synonymous_variant	94033			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.453C>T	5.37:g.121188111C>T				Silent	SNP	ENST00000321339.1	37	CCDS4128.1																																																																																				0.582	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		12	136	12	136
GRIK2	2898	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	102372528	102372528	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr6:102372528G>A	ENST00000421544.1	+	12	2291	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	GRIK2_ENST00000413795.1_Missense_Mutation_p.V601M|GRIK2_ENST00000369138.1_Missense_Mutation_p.V601M|GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000369134.4_Missense_Mutation_p.V552M|GRIK2_ENST00000318991.6_Missense_Mutation_p.V601M	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	601					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGACTCAGACGTGGTGGAAAA	0.418																																																0													137.0	127.0	131.0					6																	102372528		2203	4300	6503	SO:0001583	missense	2898				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1801G>A	6.37:g.102372528G>A	ENSP00000397026:p.Val601Met		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581974	0.65992	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000318991;ENST00000369134	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.86	5.86	0.93980	Ionotropic glutamate receptor (2);	0.067039	0.64402	D	0.000012	T	0.44829	0.1312	L	0.53561	1.675	0.58432	D	0.999997	P;P;P	0.42518	0.741;0.782;0.741	B;B;B	0.40375	0.294;0.327;0.294	T	0.51172	-0.8739	10	0.62326	D	0.03	.	20.1802	0.98196	0.0:0.0:1.0:0.0	.	601;601;601	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	M	601;601;601;601;552	ENSP00000397026:V601M;ENSP00000405596:V601M;ENSP00000358134:V601M;ENSP00000313276:V601M;ENSP00000358130:V552M	ENSP00000313276:V601M	V	+	1	0	GRIK2	102479221	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.954000	0.87848	2.777000	0.95525	0.655000	0.94253	GTG		0.418	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			12	122	12	122
HECA	51696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	139487914	139487914	+	Silent	SNP	G	G	T			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr6:139487914G>T	ENST00000367658.2	+	2	1050	c.765G>T	c.(763-765)gtG>gtT	p.V255V	RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	255					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AGAAGGCAGTGGGTGCCGCAG	0.677																																																0													16.0	19.0	18.0					6																	139487914		2199	4300	6499	SO:0001819	synonymous_variant	51696			AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.765G>T	6.37:g.139487914G>T				Silent	SNP	ENST00000367658.2	37	CCDS5194.1																																																																																				0.677	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		5	25	5	25
DOCK4	9732	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	111624387	111624387	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr7:111624387T>C	ENST00000437633.1	-	7	779	c.523A>G	c.(523-525)Atc>Gtc	p.I175V	DOCK4_ENST00000428084.1_Missense_Mutation_p.I175V|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	175					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTAATGCTGATGTCTTCCGGA	0.463																																																0													81.0	82.0	81.0					7																	111624387		1893	4122	6015	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.523A>G	7.37:g.111624387T>C	ENSP00000404179:p.Ile175Val		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.204595	0.38905	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.03035	4.07;4.07	4.87	3.72	0.42706	.	0.111526	0.64402	D	0.000012	T	0.05227	0.0139	L	0.53671	1.685	0.80722	D	1	B;B;B;B	0.18013	0.012;0.025;0.025;0.012	B;B;B;B	0.20767	0.014;0.019;0.031;0.014	T	0.24083	-1.0170	10	0.51188	T	0.08	.	9.8363	0.40971	0.0:0.0814:0.0:0.9186	.	175;175;175;175	A4D0S8;Q149N6;Q149N5;Q8N1I0	.;.;.;DOCK4_HUMAN	V	163;175;175;163;174	ENSP00000410746:I175V;ENSP00000404179:I175V	ENSP00000345432:I163V	I	-	1	0	DOCK4	111411623	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.138000	0.58017	0.821000	0.34540	0.533000	0.62120	ATC		0.463	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		10	19	10	19
CSMD3	114788	hgsc.bcm.edu;broad.mit.edu	37	8	113504737	113504737	+	Silent	SNP	T	T	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr8:113504737T>C	ENST00000297405.5	-	31	5503	c.5259A>G	c.(5257-5259)agA>agG	p.R1753R	CSMD3_ENST00000343508.3_Silent_p.R1713R|CSMD3_ENST00000352409.3_Silent_p.R1753R|CSMD3_ENST00000455883.2_Silent_p.R1649R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1753	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGGCAAGGCTCTATTCCATC	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0													126.0	114.0	118.0					8																	113504737		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5259A>G	8.37:g.113504737T>C			Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	116	9	116
GRINA	2907	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	145066754	145066754	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr8:145066754T>A	ENST00000313269.5	+	6	1222	c.944T>A	c.(943-945)cTg>cAg	p.L315Q	GRINA_ENST00000395068.4_Missense_Mutation_p.L315Q	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	315						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TACGCCTCACTGGGCGCTCTG	0.617																																																0													103.0	81.0	88.0					8																	145066754		2203	4300	6503	SO:0001583	missense	2907			NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 3"""	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.944T>A	8.37:g.145066754T>A	ENSP00000314380:p.Leu315Gln		B3KXM7|O43836|Q8IVW7	Missense_Mutation	SNP	ENST00000313269.5	37	CCDS34961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.61|19.61	3.859347|3.859347	0.71834|0.71834	.|.	.|.	ENSG00000178719|ENSG00000178719	ENST00000313269;ENST00000395068;ENST00000537637|ENST00000534791	T;T|.	0.49720|.	0.77;0.77|.	5.17|5.17	3.98|3.98	0.46160|0.46160	.|.	0.304703|.	0.27664|.	N|.	0.018362|.	T|T	0.81616|0.81616	0.4860|0.4860	H|H	0.95187|0.95187	3.635|3.635	0.48087|0.48087	D|D	0.999582|0.999582	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	D|D	0.83404|0.83404	0.0024|0.0024	10|5	0.87932|.	D|.	0|.	-15.7076|-15.7076	9.0108|9.0108	0.36139|0.36139	0.0:0.0:0.1866:0.8134|0.0:0.0:0.1866:0.8134	.|.	315|.	Q7Z429|.	GRINA_HUMAN|.	Q|R	315;315;296|294	ENSP00000314380:L315Q;ENSP00000378507:L315Q|.	ENSP00000314380:L315Q|.	L|W	+|+	2|1	0|0	GRINA|GRINA	145138742|145138742	1.000000|1.000000	0.71417|0.71417	0.110000|0.110000	0.21437|0.21437	0.914000|0.914000	0.54420|0.54420	5.887000|5.887000	0.69751|0.69751	0.770000|0.770000	0.33336|0.33336	0.477000|0.477000	0.44152|0.44152	CTG|TGG		0.617	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184		25	44	25	44
ITGB1BP2	26548	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	70524875	70524875	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:70524875G>A	ENST00000373829.3	+	11	950	c.877G>A	c.(877-879)Gtc>Atc	p.V293I	ITGB1BP2_ENST00000538820.1_Missense_Mutation_p.V275I	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	293	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					AATCTCCCTGGTCAAGGCTGA	0.517																																																0													78.0	63.0	68.0					X																	70524875		2203	4300	6503	SO:0001583	missense	26548			AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.877G>A	X.37:g.70524875G>A	ENSP00000362935:p.Val293Ile		Q32N04|Q549J7	Missense_Mutation	SNP	ENST00000373829.3	37	CCDS14411.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513920	0.27123	.	.	ENSG00000147166	ENST00000373829;ENST00000538820	T;T	0.13657	2.57;2.57	5.01	3.02	0.34903	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.527726	0.19077	N	0.123355	T	0.04724	0.0128	N	0.04203	-0.255	0.26671	N	0.971734	B;B	0.34372	0.451;0.325	B;B	0.32090	0.098;0.14	T	0.31166	-0.9953	10	0.20519	T	0.43	-0.0514	4.3536	0.11167	0.1332:0.2327:0.6341:0.0	.	275;293	Q32N04;Q9UKP3	.;ITBP2_HUMAN	I	293;275	ENSP00000362935:V293I;ENSP00000440289:V275I	ENSP00000362935:V293I	V	+	1	0	ITGB1BP2	70441600	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.015000	0.29963	1.058000	0.40530	0.513000	0.50165	GTC		0.517	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057126.1	NM_012278		18	26	18	26
DIAPH2	1730	hgsc.bcm.edu;ucsc.edu	37	X	96396733	96396733	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:96396733A>C	ENST00000324765.8	+	22	3006	c.2659A>C	c.(2659-2661)Aaa>Caa	p.K887Q	DIAPH2_ENST00000355827.4_Missense_Mutation_p.K887Q|DIAPH2_ENST00000373061.3_Missense_Mutation_p.K887Q|DIAPH2_ENST00000373049.4_Missense_Mutation_p.K887Q|DIAPH2_ENST00000373054.4_Missense_Mutation_p.K883Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	887	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTGTGAGGAAAAATATCGAGA	0.338																																																0													68.0	63.0	64.0					X																	96396733		2202	4298	6500	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2659A>C	X.37:g.96396733A>C	ENSP00000321348:p.Lys887Gln		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.349801	0.24426	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1	5.46	4.27	0.50696	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.307516	0.29964	N	0.010759	T	0.23210	0.0561	L	0.60455	1.87	0.26721	N	0.970779	B;B	0.10296	0.003;0.002	B;B	0.15484	0.013;0.007	T	0.15578	-1.0432	10	0.62326	D	0.03	.	11.95	0.52950	0.8572:0.1428:0.0:0.0	.	887;887	O60879;O60879-2	DIAP2_HUMAN;.	Q	887;883;887;887;887;894	ENSP00000362152:K887Q;ENSP00000362145:K883Q;ENSP00000348082:K887Q;ENSP00000362140:K887Q;ENSP00000321348:K887Q	ENSP00000321348:K887Q	K	+	1	0	DIAPH2	96283389	1.000000	0.71417	0.948000	0.38648	0.236000	0.25371	3.848000	0.55903	0.683000	0.31428	0.486000	0.48141	AAA		0.338	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		5	44	5	44
OCRL	4952	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	128710473	128710473	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:128710473C>G	ENST00000371113.4	+	18	2224	c.2059C>G	c.(2059-2061)Ctg>Gtg	p.L687V	OCRL_ENST00000357121.5_Missense_Mutation_p.L687V	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	687					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CTTAGAGGCTCTGTGCCGTAT	0.403																																																0													137.0	115.0	123.0					X																	128710473		2203	4300	6503	SO:0001583	missense	4952			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2059C>G	X.37:g.128710473C>G	ENSP00000360154:p.Leu687Val		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945012	0.53079	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.21734	1.99;1.99	6.05	3.67	0.42095	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.145403	0.47455	D	0.000227	T	0.49558	0.1564	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.49652	-0.8917	10	0.87932	D	0	.	8.1504	0.31137	0.0:0.3106:0.0:0.6894	.	687;687	Q01968-2;Q01968	.;OCRL_HUMAN	V	687	ENSP00000360154:L687V;ENSP00000349635:L687V	ENSP00000349635:L687V	L	+	1	2	OCRL	128538154	0.675000	0.27558	1.000000	0.80357	0.971000	0.66376	0.339000	0.19875	0.375000	0.24679	-0.306000	0.09157	CTG		0.403	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		47	7	47	7
PJA2	9867	broad.mit.edu;ucsc.edu	37	5	108717302	108717302	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:108717302A>C	ENST00000361189.2	-	3	373	c.134T>G	c.(133-135)tTt>tGt	p.F45C	PJA2_ENST00000361557.3_Missense_Mutation_p.F45C|PJA2_ENST00000511624.1_5'UTR	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	45					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ACATGGTTTAAAACTGACATA	0.443																																																0													113.0	104.0	107.0					5																	108717302		2202	4300	6502	SO:0001583	missense	9867			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.134T>G	5.37:g.108717302A>C	ENSP00000354775:p.Phe45Cys		A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133006	0.77662	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.37235	1.21;1.21	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.59715	0.2214	M	0.68593	2.085	0.50632	D	0.999883	D	0.89917	1.0	D	0.91635	0.999	T	0.63157	-0.6700	10	0.87932	D	0	-19.1314	15.9856	0.80151	1.0:0.0:0.0:0.0	.	45	O43164	PJA2_HUMAN	C	45	ENSP00000354775:F45C;ENSP00000355284:F45C	ENSP00000354775:F45C	F	-	2	0	PJA2	108745201	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.161000	0.77505	2.180000	0.69256	0.455000	0.32223	TTT		0.443	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		9	81	9	81
CFAP54	144535	broad.mit.edu;ucsc.edu	37	12	97136314	97136314	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr12:97136314C>A	ENST00000524981.4	+	52	7192	c.7169C>A	c.(7168-7170)gCa>gAa	p.A2390E				Q96N23	CL055_HUMAN		0																	TGCCGCTTAGCATTGGTGACT	0.348																																																0													88.0	81.0	83.0					12																	97136314		2203	4300	6503	SO:0001583	missense	0																														ENST00000524981.4:c.7169C>A	12.37:g.97136314C>A	ENSP00000431759:p.Ala2390Glu			Missense_Mutation	SNP	ENST00000524981.4	37		.	.	.	.	.	.	.	.	.	.	C	16.04	3.008631	0.54361	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.79	3.96	0.45880	.	0.272597	0.32068	N	0.006629	T	0.50343	0.1610	M	0.61703	1.905	0.09310	N	1	D	0.55385	0.971	P	0.55455	0.776	T	0.43196	-0.9406	9	0.59425	D	0.04	-7.3279	7.4548	0.27258	0.0:0.733:0.0:0.267	.	815	Q6ZTY8	CL063_HUMAN	E	2390;815	.	ENSP00000345466:A815E	A	+	2	0	C12orf63	95660445	0.083000	0.21467	0.387000	0.26183	0.758000	0.43043	0.697000	0.25556	0.789000	0.33779	0.491000	0.48974	GCA		0.348	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			15	21	15	21
EIF1AX	1964	broad.mit.edu;ucsc.edu	37	X	20156729	20156729	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:20156729T>C	ENST00000379607.5	-	2	231	c.28A>G	c.(28-30)Aaa>Gaa	p.K10E	snoU2-30_ENST00000365012.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA|EIF1AX_ENST00000379593.1_Intron|snoU2_19_ENST00000364722.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	10					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CGTCTGTTTTTACCTCCTTTA	0.308																																																0													143.0	133.0	136.0					X																	20156729		2203	4300	6503	SO:0001583	missense	1964			L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.28A>G	X.37:g.20156729T>C	ENSP00000368927:p.Lys10Glu		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.423735	0.62733	.	.	ENSG00000173674	ENST00000379607	T	0.51325	0.71	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.74390	0.3710	H	0.96301	3.8	0.80722	D	1	B	0.28636	0.218	P	0.47162	0.54	T	0.79174	-0.1912	9	0.87932	D	0	-2.9692	14.0063	0.64465	0.0:0.0:0.0:1.0	.	10	P47813	IF1AX_HUMAN	E	10	ENSP00000368927:K10E	ENSP00000368927:K10E	K	-	1	0	EIF1AX	20066650	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.441000	0.80485	1.753000	0.51906	0.486000	0.48141	AAA		0.308	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			37	5	37	5
CCDC69	26112	broad.mit.edu;ucsc.edu	37	5	150565607	150565607	+	Nonsense_Mutation	SNP	G	G	A	rs371784207		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:150565607G>A	ENST00000355417.2	-	6	646	c.472C>T	c.(472-474)Cga>Tga	p.R158*	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	158										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTATAGTTTCGGCTCAGAATG	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14597	0.0		0.0	False		,,,				2504	0.0															0								G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	152.0	157.0	155.0		472	4.7	0.9	5		155	0,8600		0,0,4300	no	stop-gained	CCDC69	NM_015621.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		158/297	150565607	1,13005	2203	4300	6503	SO:0001587	stop_gained	26112				CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.472C>T	5.37:g.150565607G>A	ENSP00000347586:p.Arg158*		A8K9X6	Nonsense_Mutation	SNP	ENST00000355417.2	37	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093733	0.76870	2.27E-4	0.0	ENSG00000198624	ENST00000355417	.	.	.	5.61	4.69	0.59074	.	0.338342	0.24776	N	0.035694	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.3591	13.0669	0.59038	0.0:0.0:0.7781:0.2219	.	.	.	.	X	158	.	ENSP00000347586:R158X	R	-	1	2	CCDC69	150545800	0.998000	0.40836	0.933000	0.37362	0.045000	0.14185	2.234000	0.43035	2.793000	0.96121	0.655000	0.94253	CGA		0.557	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621		11	108	11	108
