#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
ATRX	546	hgsc.bcm.edu	37	X	76777847	76777847	+	Missense_Mutation	SNP	T	T	C	rs368498507		TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chrX:76777847T>C	ENST00000373344.5	-	32	7083	c.6869A>G	c.(6868-6870)aAc>aGc	p.N2290S	ATRX_ENST00000395603.3_Missense_Mutation_p.N2252S|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2290					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.N2290S(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGTTGGTATGTTGAAACGCAT	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Substitution - Missense(1)	ovary(1)	X						T	SER/ASN,SER/ASN	0,3835		0,0,1632,571	83.0	78.0	80.0		6869,6755	5.7	1.0	X		80	2,6721		0,2,2425,1869	no	missense,missense	ATRX	NM_000489.3,NM_138270.2	46,46	0,2,4057,2440	CC,CT,TT,T		0.0297,0.0,0.0189	possibly-damaging,possibly-damaging	2290/2493,2252/2455	76777847	2,10556	2203	4296	6499	76664503	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6869A>G	X.37:g.76777847T>C	ENSP00000362441:p.Asn2290Ser		76664503	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.495320	0.44352	0.0	2.97E-4	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92495	-3.04;-3.05	5.65	5.65	0.86999	.	0.128620	0.49916	U	0.000138	D	0.93187	0.7830	L	0.29908	0.895	0.80722	D	1	D;P	0.89917	1.0;0.905	D;P	0.83275	0.996;0.543	D	0.93564	0.6898	10	0.49607	T	0.09	-8.5523	14.8945	0.70633	0.0:0.0:0.0:1.0	.	2252;2290	P46100-4;P46100	.;ATRX_HUMAN	S	2290;2252	ENSP00000362441:N2290S;ENSP00000378967:N2252S	ENSP00000362441:N2290S	N	-	2	0	ATRX	76664503	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.335000	0.65929	1.900000	0.55004	0.350000	0.21858	AAC		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
C14orf159	80017	hgsc.bcm.edu	37	14	91639670	91639670	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr14:91639670G>T	ENST00000523771.1	+	6	1082	c.479G>T	c.(478-480)tGc>tTc	p.C160F	C14orf159_ENST00000520328.1_Missense_Mutation_p.C160F|C14orf159_ENST00000523816.1_Missense_Mutation_p.C160F|C14orf159_ENST00000412671.2_Missense_Mutation_p.C165F|C14orf159_ENST00000518868.1_Missense_Mutation_p.C165F|C14orf159_ENST00000256324.10_Missense_Mutation_p.C165F|C14orf159_ENST00000525393.2_Missense_Mutation_p.C36F|C14orf159_ENST00000522322.1_Missense_Mutation_p.C160F|C14orf159_ENST00000521077.2_Missense_Mutation_p.C165F|C14orf159_ENST00000428926.2_Missense_Mutation_p.C160F			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	160						mitochondrion (GO:0005739)		p.C160F(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GGCTTCTGCTGCCCTCTGGTG	0.507											OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	14											68.0	62.0	64.0					14																	91639670		2203	4300	6503	90709423	SO:0001583	missense	80017			AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.479G>T	14.37:g.91639670G>T	ENSP00000429655:p.Cys160Phe	1284	90709423	B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.037048	0.54896	.	.	ENSG00000133943	ENST00000520328;ENST00000256324;ENST00000522170;ENST00000519950;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000517518;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	T;T;T;T;T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	4.55	3.67	0.42095	.	0.118256	0.64402	D	0.000008	T	0.45357	0.1338	M	0.77103	2.36	0.51482	D	0.999924	P;P;P;P;P;P	0.47545	0.897;0.695;0.897;0.733;0.733;0.875	P;P;P;B;B;B	0.51918	0.568;0.528;0.684;0.432;0.432;0.432	T	0.49322	-0.8952	10	0.59425	D	0.04	.	11.1808	0.48627	0.0873:0.0:0.9127:0.0	.	160;36;165;160;165;165	Q7Z3D6;Q8NB88;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.;.	F	160;165;165;165;165;165;160;165;36;160;160;160;165	ENSP00000429453:C160F;ENSP00000256324:C165F;ENSP00000430666:C165F;ENSP00000428296:C165F;ENSP00000430137:C165F;ENSP00000428263:C165F;ENSP00000428974:C160F;ENSP00000428652:C165F;ENSP00000435459:C36F;ENSP00000404343:C160F;ENSP00000427953:C160F;ENSP00000429655:C160F;ENSP00000404196:C165F	ENSP00000256324:C165F	C	+	2	0	C14orf159	90709423	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.581000	0.60949	1.261000	0.44149	-0.254000	0.11334	TGC		0.507	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952	
CCNA1	8900	hgsc.bcm.edu	37	13	37015329	37015329	+	Silent	SNP	T	T	A			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr13:37015329T>A	ENST00000255465.4	+	7	1437	c.1173T>A	c.(1171-1173)gcT>gcA	p.A391A	CCNA1_ENST00000449823.1_Silent_p.A347A|CCNA1_ENST00000418263.1_Silent_p.A390A|CCNA1_ENST00000440264.1_Silent_p.A347A			P78396	CCNA1_HUMAN	cyclin A1	391	Poly-Ala.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.A391A(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CTGCAGCAGCTTTTTGCCTGG	0.398																																																2	Substitution - coding silent(2)	ovary(2)	13											151.0	132.0	139.0					13																	37015329		2203	4300	6503	35913329	SO:0001819	synonymous_variant	8900			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1173T>A	13.37:g.37015329T>A			35913329	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Silent	SNP	ENST00000255465.4	37	CCDS9357.1																																																																																				0.398	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914	
AMER1	139285	hgsc.bcm.edu	37	X	63412538	63412538	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chrX:63412538G>A	ENST00000330258.3	-	2	901	c.629C>T	c.(628-630)tCa>tTa	p.S210L	AMER1_ENST00000374869.3_Missense_Mutation_p.S210L|AMER1_ENST00000403336.1_Missense_Mutation_p.S210L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	210					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.S210*(3)|p.S210L(1)									CTGAGGGGCTGAGCTCACGTG	0.602																																																71	Whole gene deletion(67)|Substitution - Nonsense(3)|Substitution - Missense(1)	kidney(68)|ovary(2)|large_intestine(1)	X											50.0	46.0	47.0					X																	63412538		2202	4297	6499	63329263	SO:0001583	missense	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.629C>T	X.37:g.63412538G>A	ENSP00000329117:p.Ser210Leu		63329263	A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	8.679	0.904626	0.17760	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.35236	1.32;1.32;1.32	5.13	5.13	0.70059	.	3.082560	0.00853	N	0.001844	T	0.51601	0.1684	L	0.46157	1.445	0.09310	N	1	P	0.51147	0.942	P	0.57057	0.812	T	0.43956	-0.9359	10	0.16896	T	0.51	-0.3726	12.7911	0.57534	0.0:0.1618:0.8382:0.0	.	210	Q5JTC6	F123B_HUMAN	L	210	ENSP00000364003:S210L;ENSP00000329117:S210L;ENSP00000384722:S210L	ENSP00000329117:S210L	S	-	2	0	FAM123B	63329263	0.379000	0.25123	0.016000	0.15963	0.112000	0.19704	2.061000	0.41403	2.508000	0.84585	0.600000	0.82982	TCA		0.602	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
HRNR	388697	hgsc.bcm.edu	37	1	152195729	152195729	+	Start_Codon_Del	DEL	T	T	-	rs397824794|rs530205886|rs200372988|rs34061715|rs561299511	byFrequency	TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr1:152195729delT	ENST00000368801.2	-	0	76				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin						establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.?(2)|p.M1L(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTTTAGGCATTTTTTTTTTT	0.378																																																3	Unknown(2)|Substitution - Missense(1)	ovary(2)|lung(1)	1											33.0	21.0	25.0					1																	152195729		2203	4300	6503	150462353	SO:0001582	initiator_codon_variant	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243		1.37:g.152195729delT			150462353	Q5DT20|Q5U1F4	Frame_Shift_Del	DEL	ENST00000368801.2	37	CCDS30859.1																																																																																				0.378	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
PDCD6IP	10015	hgsc.bcm.edu	37	3	33877623	33877623	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr3:33877623C>G	ENST00000307296.3	+	8	1299	c.922C>G	c.(922-924)Ctt>Gtt	p.L308V	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.L313V			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	308	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.L308V(1)		central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						CAATCGTGCCCTTGCTGCAGC	0.373																																																1	Substitution - Missense(1)	ovary(1)	3											163.0	166.0	165.0					3																	33877623		2203	4300	6503	33852627	SO:0001583	missense	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.922C>G	3.37:g.33877623C>G	ENSP00000307387:p.Leu308Val		33852627	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121773	0.94385	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.25085	1.82;1.82	5.18	5.18	0.71444	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	M	0.83774	2.66	0.80722	D	1	D;D;D	0.67145	0.996;0.977;0.977	D;P;P	0.66979	0.948;0.806;0.806	T	0.61574	-0.7035	10	0.62326	D	0.03	-13.0954	18.691	0.91582	0.0:1.0:0.0:0.0	.	89;313;308	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	V	308;313	ENSP00000307387:L308V;ENSP00000411825:L313V	ENSP00000307387:L308V	L	+	1	0	PDCD6IP	33852627	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.805000	0.86005	2.407000	0.81776	0.650000	0.86243	CTT		0.373	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2		
SPINK5	11005	hgsc.bcm.edu	37	5	147499875	147499875	+	Frame_Shift_Del	DEL	A	A	-	rs565782662		TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr5:147499875delA	ENST00000256084.7	+	26	2501	c.2459delA	c.(2458-2460)gaafs	p.E820fs	SPINK5_ENST00000359874.3_Frame_Shift_Del_p.E820fs|SPINK5_ENST00000398454.1_Frame_Shift_Del_p.E820fs	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	820	Kazal-like 12. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.K823fs*101(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCAGCTGAAAAAAAAAAG	0.393																																																1	Deletion - Frameshift(1)	ovary(1)	5											119.0	120.0	120.0					5																	147499875		1843	4089	5932	147480068	SO:0001589	frameshift_variant	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2459delA	5.37:g.147499875delA	ENSP00000256084:p.Glu820fs		147480068	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Frame_Shift_Del	DEL	ENST00000256084.7	37	CCDS43382.1																																																																																				0.393	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698	
ZNF681	148213	hgsc.bcm.edu	37	19	23927742	23927743	+	Frame_Shift_Del	DEL	CA	CA	-	rs61397759	byFrequency	TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr19:23927742_23927743delCA	ENST00000402377.3	-	4	750_751	c.609_610delTG	c.(607-612)tgtggafs	p.CG203fs	ZNF681_ENST00000395385.3_Frame_Shift_Del_p.CG134fs	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C134fs*5(1)|p.G135R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGGCTTTTCCACAGTCTTCAC	0.292														564	0.11262	0.0106	0.1441	5008	,	,		17190	0.0913		0.1998	False		,,,				2504	0.1605															2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|skin(1)	19								179,4075		8,163,1956						-2.8	0.0		dbSNP_129	28	1687,6547		180,1327,2610	yes	frameshift	ZNF681	NM_138286.2		188,1490,4566	A1A1,A1R,RR		20.4882,4.2078,14.9423				1866,10622				23719583	SO:0001589	frameshift_variant	148213			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.609_610delTG	19.37:g.23927744_23927745delCA	ENSP00000384000:p.Cys203fs		23719582	B3KVF7	Frame_Shift_Del	DEL	ENST00000402377.3	37	CCDS12414.2																																																																																				0.292	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286	
FAM160A1	729830	hgsc.bcm.edu	37	4	152559847	152559847	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr4:152559847G>A	ENST00000505231.1	+	7	1324	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T	FAM160A1_ENST00000435205.1_Missense_Mutation_p.A389T			Q05DH4	F16A1_HUMAN	family with sequence similarity 160, member A1	389										endometrium(2)|kidney(1)	3						GGTGTCTCTGGCATTATTCAG	0.373																																																0			4											243.0	191.0	207.0					4																	152559847		692	1591	2283	152779297	SO:0001583	missense	729830				CCDS47146.1	4q31.3	2012-11-30			ENSG00000164142	ENSG00000164142			34237	protein-coding gene	gene with protein product							Standard	NM_001109977		Approved	FLJ43373	uc003imj.2	Q05DH4	OTTHUMG00000161675	ENST00000505231.1:c.1165G>A	4.37:g.152559847G>A	ENSP00000421580:p.Ala389Thr		152779297	Q6ZUS2	Missense_Mutation	SNP	ENST00000505231.1	37	CCDS47146.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893390	0.91889	.	.	ENSG00000164142	ENST00000435205;ENST00000505231	T;T	0.30448	1.53;1.53	5.59	5.59	0.84812	.	.	.	.	.	T	0.47507	0.1449	L	0.49126	1.545	0.53688	D	0.999974	P	0.46859	0.885	P	0.58130	0.833	T	0.09037	-1.0693	9	0.27082	T	0.32	.	19.64	0.95754	0.0:0.0:1.0:0.0	.	389	Q05DH4	F16A1_HUMAN	T	389	ENSP00000413196:A389T;ENSP00000421580:A389T	ENSP00000413196:A389T	A	+	1	0	FAM160A1	152779297	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.557000	0.82243	2.652000	0.90054	0.585000	0.79938	GCA		0.373	FAM160A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365691.1	NM_001109977	
HMCN1	83872	hgsc.bcm.edu	37	1	186113408	186113408	+	Silent	SNP	G	G	A	rs115782304	byFrequency	TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr1:186113408G>A	ENST00000271588.4	+	90	14257	c.14028G>A	c.(14026-14028)gcG>gcA	p.A4676A	HMCN1_ENST00000367492.2_Silent_p.A4676A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4676	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.A4676A(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACCACCAGCGTTTGGTGGGT	0.443													G|||	16	0.00319489	0.0113	0.0014	5008	,	,		18867	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	1						G		56,4350	54.9+/-90.9	0,56,2147	148.0	151.0	150.0		14028	-10.8	0.0	1	dbSNP_132	150	0,8600		0,0,4300	no	coding-synonymous	HMCN1	NM_031935.2		0,56,6447	AA,AG,GG		0.0,1.271,0.4306		4676/5636	186113408	56,12950	2203	4300	6503	184380031	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14028G>A	1.37:g.186113408G>A			184380031	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.443	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
IFT140	9742	hgsc.bcm.edu	37	16	1575305	1575305	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr16:1575305G>A	ENST00000426508.2	-	22	3154	c.2791C>T	c.(2791-2793)Cgc>Tgc	p.R931C	IFT140_ENST00000361339.5_Missense_Mutation_p.R125C	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	931					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.R931C(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACCTCGAAGCGGTGCGTGTCC	0.622																																																1	Substitution - Missense(1)	ovary(1)	16											86.0	83.0	84.0					16																	1575305		2199	4300	6499	1515306	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2791C>T	16.37:g.1575305G>A	ENSP00000406012:p.Arg931Cys		1515306	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621503	0.28889	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.44083	0.93;0.93	5.34	3.18	0.36537	.	0.117941	0.52532	N	0.000066	T	0.32734	0.0839	L	0.48362	1.52	0.58432	D	0.999999	B;B	0.31351	0.076;0.32	B;B	0.27608	0.026;0.081	T	0.14035	-1.0487	10	0.36615	T	0.2	.	10.4205	0.44348	0.0835:0.0:0.7371:0.1794	.	931;618	Q96RY7;B4DR58	IF140_HUMAN;.	C	931;125;931	ENSP00000354895:R125C;ENSP00000406012:R931C	ENSP00000354895:R125C	R	-	1	0	IFT140	1515306	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	1.593000	0.36686	1.280000	0.44463	0.655000	0.94253	CGC		0.622	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714	
MIB1	57534	hgsc.bcm.edu	37	18	19378064	19378064	+	Missense_Mutation	SNP	G	G	A	rs376378881		TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr18:19378064G>A	ENST00000261537.6	+	8	1376	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	371					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R371Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AAAGTTGGCCGAGTACAACAG	0.368																																																1	Substitution - Missense(1)	ovary(1)	18						G	GLN/ARG	0,4406		0,0,2203	121.0	121.0	121.0		1112	5.2	1.0	18		121	1,8597	1.2+/-3.3	0,1,4298	no	missense	MIB1	NM_020774.2	43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	371/1007	19378064	1,13003	2203	4299	6502	17632062	SO:0001583	missense	57534			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1112G>A	18.37:g.19378064G>A	ENSP00000261537:p.Arg371Gln		17632062	B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530688	0.85706	0.0	1.16E-4	ENSG00000101752	ENST00000261537	T	0.37915	1.17	5.2	5.2	0.72013	.	0.063642	0.64402	D	0.000009	T	0.37348	0.1000	M	0.78801	2.425	0.58432	D	0.999999	P	0.48998	0.918	B	0.29524	0.103	T	0.54820	-0.8236	10	0.56958	D	0.05	-9.7576	19.0978	0.93260	0.0:0.0:1.0:0.0	.	371	Q86YT6	MIB1_HUMAN	Q	371	ENSP00000261537:R371Q	ENSP00000261537:R371Q	R	+	2	0	MIB1	17632062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.796000	0.99103	2.584000	0.87258	0.603000	0.83216	CGA		0.368	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774	
PDE4DIP	9659	hgsc.bcm.edu	37	1	144912276	144912276	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr1:144912276C>G	ENST00000369354.3	-	15	2188	c.1999G>C	c.(1999-2001)Gtg>Ctg	p.V667L	PDE4DIP_ENST00000529945.1_Missense_Mutation_p.V830L|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.V804L|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.V830L|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.V667L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.V804L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.V667L|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.V667L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.V733L|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.V454L|PDE4DIP_ENST00000524974.1_5'Flank			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	667					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.V667L(3)|p.V830L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGGCTTGCACCAACTTCTCT	0.383			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	4	Substitution - Missense(4)	lung(3)|ovary(1)	1											70.0	65.0	67.0					1																	144912276		2203	4300	6503	143623633	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1999G>C	1.37:g.144912276C>G	ENSP00000358360:p.Val667Leu		143623633	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354191	0.61293	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.56444	4.7;4.79;4.79;4.8;4.79;3.8;3.8;2.72;2.72;0.46	5.53	5.53	0.82687	.	.	.	.	.	T	0.50274	0.1606	L	0.57536	1.79	0.80722	D	1	P;D;P;D;P;D	0.63046	0.891;0.958;0.582;0.958;0.901;0.992	P;P;B;P;P;P	0.56163	0.487;0.793;0.188;0.793;0.545;0.712	T	0.41502	-0.9505	9	0.16896	T	0.51	.	15.0248	0.71659	0.0:1.0:0.0:0.0	.	830;454;667;830;733;667	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	L	733;667;667;830;804;804;667;667;830;830;454	ENSP00000327209:V733L;ENSP00000358360:V667L;ENSP00000358363:V667L;ENSP00000435654:V804L;ENSP00000358366:V804L;ENSP00000358357:V667L;ENSP00000358355:V667L;ENSP00000316434:V830L;ENSP00000433392:V830L;ENSP00000436791:V454L	ENSP00000327209:V733L	V	-	1	0	PDE4DIP	143623633	0.987000	0.35691	0.996000	0.52242	0.676000	0.39594	2.220000	0.42908	2.624000	0.88883	0.650000	0.86243	GTG		0.383	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
SELP	6403	hgsc.bcm.edu	37	1	169582293	169582293	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr1:169582293G>T	ENST00000263686.6	-	5	686	c.649C>A	c.(649-651)Ctg>Atg	p.L217M	SELP_ENST00000367786.2_Missense_Mutation_p.L217M|SELP_ENST00000367794.2_Missense_Mutation_p.L217M|SELP_ENST00000367788.2_Missense_Mutation_p.L217M|SELP_ENST00000367793.2_Missense_Mutation_p.L217M|SELP_ENST00000367792.2_Missense_Mutation_p.L217M|SELP_ENST00000458599.2_Missense_Mutation_p.L217M|SELP_ENST00000367791.2_Missense_Mutation_p.L217M	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	217	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.L217M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	AAGTTTCCCAGAGGGTGGCTG	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											83.0	78.0	80.0					1																	169582293		2203	4300	6503	167848917	SO:0001583	missense	6403			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.649C>A	1.37:g.169582293G>T	ENSP00000263686:p.Leu217Met		167848917	Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.82|17.82	3.483591|3.483591	0.63962|0.63962	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T;T;T|.	0.50813|.	0.73;0.73;0.73;0.73;0.73;0.73;0.73|.	5.98|5.98	5.98|5.98	0.97165|0.97165	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.44902|.	D|.	0.000417|.	T|T	0.76011|0.76011	0.3928|0.3928	M|M	0.91663|0.91663	3.23|3.23	0.31250|0.31250	N|N	0.694124|0.694124	D;D;D|.	0.76494|.	0.999;0.999;0.998|.	D;D;D|.	0.76575|.	0.984;0.988;0.985|.	T|T	0.78247|0.78247	-0.2278|-0.2278	10|5	0.34782|.	T|.	0.22|.	-8.7037|-8.7037	17.9372|17.9372	0.89015|0.89015	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	217;217;217|.	Q6NUL9;P16109;G3V1U2|.	.;LYAM3_HUMAN;.|.	M|Y	217;217;216;217;217;217;217;217;217;217;217;217;202|216	ENSP00000263686:L217M;ENSP00000356767:L217M;ENSP00000356768:L217M;ENSP00000356766:L217M;ENSP00000356765:L217M;ENSP00000356762:L217M;ENSP00000356760:L217M|.	ENSP00000263686:L217M|.	L|S	-|-	1|2	2|0	SELP|SELP	167848917|167848917	0.012000|0.012000	0.17670|0.17670	0.853000|0.853000	0.33588|0.33588	0.878000|0.878000	0.50629|0.50629	0.756000|0.756000	0.26419|0.26419	2.838000|2.838000	0.97847|0.97847	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.483	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005	
NME9	347736	hgsc.bcm.edu	37	3	138022468	138022468	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr3:138022468C>T	ENST00000333911.3	-	10	836	c.809G>A	c.(808-810)gGc>gAc	p.G270D	NME9_ENST00000536478.1_Missense_Mutation_p.G209D|NME9_ENST00000341790.5_Missense_Mutation_p.G207D|NME9_ENST00000484930.1_Missense_Mutation_p.G207D|NME9_ENST00000383180.2_Missense_Mutation_p.G209D|NME9_ENST00000317876.4_Missense_Mutation_p.G209D			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	270	NDK.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.G209D(1)									CATTTCTGTGCCGTACTGAGC	0.438																																																1	Substitution - Missense(1)	ovary(1)	3											69.0	65.0	67.0					3																	138022468		2203	4300	6503	139505158	SO:0001583	missense	347736			AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.809G>A	3.37:g.138022468C>T	ENSP00000335444:p.Gly270Asp		139505158	Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	ENST00000333911.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.977579|3.977579	0.74360|0.74360	.|.	.|.	ENSG00000181322|ENSG00000181322	ENST00000474690|ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911	.|T;T;T;T;T;T	.|0.59906	.|0.23;0.23;0.23;0.23;0.23;0.23	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.224693	.|0.43579	.|D	.|0.000546	T|T	0.78155|0.78155	0.4239|0.4239	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.97110	.|1.0;0.971;0.991	T|T	0.80430|0.80430	-0.1386|-0.1386	4|9	.|0.87932	.|D	.|0	-26.3951|-26.3951	17.3969|17.3969	0.87448|0.87448	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|207;270;209	.|Q86XW9-3;Q86XW9;Q86XW9-2	.|.;TXND6_HUMAN;.	T|D	149|209;209;207;207;209;270	.|ENSP00000372667:G209D;ENSP00000321929:G209D;ENSP00000419882:G207D;ENSP00000341084:G207D;ENSP00000440143:G209D;ENSP00000335444:G270D	.|ENSP00000321929:G209D	A|G	-|-	1|2	0|0	TXNDC6|TXNDC6	139505158|139505158	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.491000|0.491000	0.33493|0.33493	5.686000|5.686000	0.68211|0.68211	2.710000|2.710000	0.92621|0.92621	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.438	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130	
ZNF407	55628	hgsc.bcm.edu	37	18	72343013	72343013	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr18:72343013A>G	ENST00000299687.5	+	1	38	c.38A>G	c.(37-39)gAt>gGt	p.D13G	ZNF407_ENST00000309902.6_Missense_Mutation_p.D13G|ZNF407_ENST00000582337.1_Missense_Mutation_p.D13G|ZNF407_ENST00000577538.1_Missense_Mutation_p.D13G	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D13G(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AATGATGAGGATGAAAAGATA	0.408																																																1	Substitution - Missense(1)	ovary(1)	18											57.0	54.0	55.0					18																	72343013		1887	4109	5996	70472001	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.38A>G	18.37:g.72343013A>G	ENSP00000299687:p.Asp13Gly		70472001	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	A	8.080	0.772078	0.16051	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.18016	2.24;2.54	5.06	1.26	0.21427	.	.	.	.	.	T	0.10078	0.0247	L	0.34521	1.04	0.33792	D	0.625641	B;B;B	0.11235	0.004;0.004;0.0	B;B;B	0.13407	0.009;0.009;0.001	T	0.20438	-1.0275	9	0.30854	T	0.27	.	1.4137	0.02297	0.3983:0.147:0.3128:0.1419	.	13;13;13	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	G	13	ENSP00000299687:D13G;ENSP00000310359:D13G	ENSP00000299687:D13G	D	+	2	0	ZNF407	70472001	0.990000	0.36364	0.872000	0.34217	0.095000	0.18619	0.458000	0.21892	0.278000	0.22164	0.533000	0.62120	GAT		0.408	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
DBH	1621	hgsc.bcm.edu	37	9	136507391	136507391	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr9:136507391C>G	ENST00000393056.2	+	3	561	c.549C>G	c.(547-549)atC>atG	p.I183M		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	183					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.I183M(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	TGGAGGCCATCAACGGCTCGG	0.647																																																1	Substitution - Missense(1)	ovary(1)	9											37.0	40.0	39.0					9																	136507391		2203	4300	6503	135497212	SO:0001583	missense	1621			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.549C>G	9.37:g.136507391C>G	ENSP00000376776:p.Ile183Met		135497212	Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729805	0.30684	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.51325	0.71;0.83	4.97	4.08	0.47627	DOMON domain (1);	0.054232	0.64402	D	0.000001	T	0.58308	0.2113	M	0.81802	2.56	0.46654	D	0.999145	P	0.46395	0.877	P	0.51415	0.669	T	0.61681	-0.7013	10	0.66056	D	0.02	-15.2886	8.3581	0.32342	0.0:0.7602:0.0:0.2398	.	183	P09172	DOPO_HUMAN	M	183;120;120	ENSP00000376776:I183M;ENSP00000263611:I120M	ENSP00000263611:I120M	I	+	3	3	DBH	135497212	1.000000	0.71417	0.997000	0.53966	0.077000	0.17291	1.391000	0.34475	1.096000	0.41439	-0.424000	0.05967	ATC		0.647	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787	
LRPPRC	10128	hgsc.bcm.edu	37	2	44173340	44173340	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr2:44173340C>T	ENST00000260665.7	-	21	2179	c.2122G>A	c.(2122-2124)Gac>Aac	p.D708N		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	708					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.D708N(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTAACCATGTCGGATTCATAT	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											96.0	95.0	95.0					2																	44173340		2202	4299	6501	44026844	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2122G>A	2.37:g.44173340C>T	ENSP00000260665:p.Asp708Asn		44026844	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126338	0.56721	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.56103	0.48	5.63	4.76	0.60689	.	0.142946	0.64402	N	0.000006	T	0.50222	0.1603	M	0.72894	2.215	0.80722	D	1	P;B	0.36495	0.556;0.445	B;B	0.34590	0.186;0.044	T	0.48091	-0.9065	10	0.17832	T	0.49	-6.6379	14.4059	0.67081	0.0:0.9293:0.0:0.0707	.	608;708	F5H4J6;P42704	.;LPPRC_HUMAN	N	608;708	ENSP00000260665:D708N	ENSP00000260665:D708N	D	-	1	0	LRPPRC	44026844	1.000000	0.71417	0.916000	0.36221	0.560000	0.35617	5.581000	0.67471	1.387000	0.46486	0.650000	0.86243	GAC		0.348	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259	
ERBB2	2064	hgsc.bcm.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																													Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	7	Substitution - Missense(7)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)	17											251.0	204.0	220.0					17																	37868208		2203	4300	6503	35121734	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe		35121734	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2		
KDM2A	22992	hgsc.bcm.edu	37	11	66983400	66983400	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr11:66983400C>T	ENST00000529006.2	+	8	1113	c.667C>T	c.(667-669)Cac>Tac	p.H223Y	KDM2A_ENST00000398645.2_Missense_Mutation_p.H223Y|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	223	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.H223Y(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGTTTGGTATCACATCCATCA	0.423																																																1	Substitution - Missense(1)	ovary(1)	11											351.0	331.0	337.0					11																	66983400		1954	4154	6108	66739976	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.667C>T	11.37:g.66983400C>T	ENSP00000432786:p.His223Tyr		66739976	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228132	0.95173	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.70164	-0.46;-0.46	5.69	5.69	0.88448	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.85204	0.5643	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87285	0.2295	10	0.72032	D	0.01	-12.1794	18.8026	0.92023	0.0:1.0:0.0:0.0	.	223	Q9Y2K7	KDM2A_HUMAN	Y	223	ENSP00000381640:H223Y;ENSP00000432786:H223Y	ENSP00000381640:H223Y	H	+	1	0	KDM2A	66739976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.459000	0.80802	2.691000	0.91804	0.655000	0.94253	CAC		0.423	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308	
UNC79	57578	hgsc.bcm.edu	37	14	94120300	94120300	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr14:94120300C>T	ENST00000393151.2	+	38	6328	c.6328C>T	c.(6328-6330)Cgg>Tgg	p.R2110W	UNC79_ENST00000555664.1_Missense_Mutation_p.R2071W|UNC79_ENST00000256339.4_Missense_Mutation_p.R1933W|UNC79_ENST00000553484.1_Missense_Mutation_p.R2132W			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2110					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1933W(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GACTTTTTTACGGACCTTAGC	0.493																																																1	Substitution - Missense(1)	ovary(1)	14											174.0	159.0	164.0					14																	94120300		2203	4300	6503	93190053	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6328C>T	14.37:g.94120300C>T	ENSP00000376858:p.Arg2110Trp		93190053	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	C	19.61	3.860612	0.71834	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.54	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	L	0.53249	1.67	0.45899	D	0.998744	D	0.76494	0.999	D	0.76071	0.987	T	0.63037	-0.6726	10	0.87932	D	0	-15.8242	14.3727	0.66852	0.2678:0.7321:0.0:0.0	.	2132	C9JQL1	.	W	1933;2071;2132;2110;2132	ENSP00000256339:R1933W;ENSP00000450868:R2071W;ENSP00000451360:R2132W;ENSP00000376858:R2110W	ENSP00000256339:R1933W	R	+	1	2	KIAA1409	93190053	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.288000	0.33296	1.306000	0.44926	0.655000	0.94253	CGG		0.493	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
LRP1	4035	hgsc.bcm.edu	37	12	57570937	57570937	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr12:57570937G>A	ENST00000243077.3	+	25	4571	c.4105G>A	c.(4105-4107)Gag>Aag	p.E1369K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1369					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)	p.E1369K(1)		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)	GGATCAGATCGAGGTGGCCAA	0.617																																																1	Substitution - Missense(1)	ovary(1)	12											143.0	114.0	123.0					12																	57570937		2203	4300	6503	55857204	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.4105G>A	12.37:g.57570937G>A	ENSP00000243077:p.Glu1369Lys		55857204	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546499	0.86022	.	.	ENSG00000123384	ENST00000243077	D	0.89415	-2.51	5.0	5.0	0.66597	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	D	0.93471	0.7917	M	0.83774	2.66	0.80722	D	1	D	0.60575	0.988	P	0.57548	0.823	D	0.93356	0.6722	10	0.45353	T	0.12	.	17.2315	0.86985	0.0:0.0:1.0:0.0	.	1369	Q07954	LRP1_HUMAN	K	1369	ENSP00000243077:E1369K	ENSP00000243077:E1369K	E	+	1	0	LRP1	55857204	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	9.648000	0.98483	2.602000	0.87976	0.462000	0.41574	GAG		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
MAP7D2	256714	hgsc.bcm.edu	37	X	20043112	20043112	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chrX:20043112C>T	ENST00000379651.3	-	9	1264	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	MAP7D2_ENST00000452324.3_Missense_Mutation_p.E364K|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000379643.5_Missense_Mutation_p.E457K|MAP7D2_ENST00000543767.1_Missense_Mutation_p.E301K|MAP7D2_ENST00000443379.3_Missense_Mutation_p.E371K	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	416					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.E416K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TCCTCCTGTTCCTTCTGCAGC	0.522																																																1	Substitution - Missense(1)	ovary(1)	X											316.0	250.0	272.0					X																	20043112		2203	4300	6503	19953033	SO:0001583	missense	256714			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1246G>A	X.37:g.20043112C>T	ENSP00000368972:p.Glu416Lys		19953033	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508449	0.85282	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.61739	0.2371	M	0.78223	2.4	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.997;0.998;0.997	T	0.63545	-0.6613	10	0.48119	T	0.1	-19.4326	15.7827	0.78272	0.0:1.0:0.0:0.0	.	371;364;457;416;301	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	K	416;457;301;371;99;364	ENSP00000368972:E416K;ENSP00000368964:E457K;ENSP00000440691:E301K;ENSP00000388239:E371K;ENSP00000413301:E364K	ENSP00000368964:E457K	E	-	1	0	MAP7D2	19953033	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.663000	0.74431	2.323000	0.78572	0.600000	0.82982	GAA		0.522	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780	
MAPK14	1432	hgsc.bcm.edu	37	6	36070418	36070418	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr6:36070418A>T	ENST00000229794.4	+	10	1221	c.833A>T	c.(832-834)aAt>aTt	p.N278I	MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000229795.3_Missense_Mutation_p.N278I|MAPK14_ENST00000468133.1_Missense_Mutation_p.N201I	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)	p.N278I(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						ATTGGTGCCAATCCCCTGGGT	0.368																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)											1	Substitution - Missense(1)	ovary(1)	6											200.0	195.0	197.0					6																	36070418		2203	4300	6503	36178396	SO:0001583	missense	1432			L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.833A>T	6.37:g.36070418A>T	ENSP00000229794:p.Asn278Ile		36178396	A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Missense_Mutation	SNP	ENST00000229794.4	37	CCDS4816.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.481982	0.84747	.	.	ENSG00000112062	ENST00000229795;ENST00000229794;ENST00000468133	T;T;T	0.13538	2.58;2.58;2.58	4.82	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.25938	0.0632	M	0.67569	2.06	0.80722	D	1	D;D;D	0.69078	0.997;0.985;0.983	D;P;D	0.73708	0.981;0.844;0.909	T	0.02829	-1.1105	10	0.87932	D	0	.	14.6663	0.68910	1.0:0.0:0.0:0.0	.	278;278;278	Q16539;Q16539-2;Q16539-3	MK14_HUMAN;.;.	I	278;278;201	ENSP00000229795:N278I;ENSP00000229794:N278I;ENSP00000419837:N201I	ENSP00000229794:N278I	N	+	2	0	MAPK14	36178396	1.000000	0.71417	0.998000	0.56505	0.760000	0.43138	9.287000	0.95975	1.932000	0.55993	0.459000	0.35465	AAT		0.368	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315	
MYCBP2	23077	hgsc.bcm.edu	37	13	77695606	77695606	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr13:77695606G>A	ENST00000544440.2	-	55	7945	c.7928C>T	c.(7927-7929)tCt>tTt	p.S2643F	MYCBP2_ENST00000360084.5_Missense_Mutation_p.S106F|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2643F|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S2681F					MYC binding protein 2, E3 ubiquitin protein ligase									p.S2643F(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGGAGTTTGAGAATTCTGATC	0.398																																																1	Substitution - Missense(1)	ovary(1)	13											83.0	82.0	82.0					13																	77695606		2203	4300	6503	76593607	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7928C>T	13.37:g.77695606G>A	ENSP00000444596:p.Ser2643Phe		76593607		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	G	15.56	2.869160	0.51588	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.46451	1.57;1.57;1.57;0.87	5.47	5.47	0.80525	.	0.500335	0.22661	N	0.057196	T	0.31451	0.0797	L	0.29908	0.895	0.29198	N	0.875424	B;B	0.27791	0.189;0.022	B;B	0.29440	0.102;0.012	T	0.27088	-1.0084	10	0.56958	D	0.05	.	9.1724	0.37091	0.0838:0.1501:0.7662:0.0	.	2643;2643	O75592-2;O75592	.;MYCB2_HUMAN	F	2643;2681;2643;106	ENSP00000349892:S2643F;ENSP00000384288:S2681F;ENSP00000444596:S2643F;ENSP00000353197:S106F	ENSP00000349892:S2643F	S	-	2	0	MYCBP2	76593607	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.040000	0.49799	2.547000	0.85894	0.563000	0.77884	TCT		0.398	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
PPP2R5B	5526	hgsc.bcm.edu	37	11	64699341	64699341	+	Splice_Site	SNP	G	G	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr11:64699341G>T	ENST00000164133.2	+	11	1738		c.e11+1			NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.?(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCATTTCCAGGTATGAGGCAG	0.552																																																1	Unknown(1)	ovary(1)	11											55.0	55.0	55.0					11																	64699341		2201	4297	6498	64455917	SO:0001630	splice_region_variant	5526			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.1116+1G>T	11.37:g.64699341G>T			64455917	Q13853	Splice_Site	SNP	ENST00000164133.2	37	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774261	0.69992	.	.	ENSG00000068971	ENST00000164133;ENST00000527441	.	.	.	3.74	3.74	0.42951	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8614	0.63561	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP2R5B	64455917	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	9.137000	0.94496	2.394000	0.81467	0.455000	0.32223	.		0.552	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244	Intron
SLC2A1	6513	hgsc.bcm.edu	37	1	43392858	43392858	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr1:43392858A>G	ENST00000426263.3	-	10	1511	c.1333T>C	c.(1333-1335)Ttc>Ctc	p.F445L	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	445					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)	p.F445L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GTGAAGATGAAGAACAGAACC	0.517																																																1	Substitution - Missense(1)	ovary(1)	1											86.0	68.0	74.0					1																	43392858		2203	4300	6503	43165445	SO:0001583	missense	6513			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.1333T>C	1.37:g.43392858A>G	ENSP00000416293:p.Phe445Leu		43165445	A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	CCDS477.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.354426	0.24512	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019	T	0.73789	-0.78	5.66	5.66	0.87406	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	L	0.31294	0.92	0.80722	D	1	B	0.14012	0.009	B	0.17979	0.02	T	0.58142	-0.7688	10	0.22706	T	0.39	.	13.8441	0.63457	1.0:0.0:0.0:0.0	.	445	P11166	GTR1_HUMAN	L	445;445;387	ENSP00000416293:F445L	ENSP00000361579:F445L	F	-	1	0	SLC2A1	43165445	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.978000	0.70501	2.166000	0.68216	0.454000	0.30748	TTC		0.517	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516	
TP53	7157	hgsc.bcm.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	17	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	7517846	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		7517846	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
USP4	7375	hgsc.bcm.edu	37	3	49337910	49337910	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr3:49337910C>G	ENST00000265560.4	-	11	1548	c.1502G>C	c.(1501-1503)aGa>aCa	p.R501T	USP4_ENST00000351842.4_Missense_Mutation_p.R454T|USP4_ENST00000488520.1_5'Flank	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	501	USP.|Ubiquitin-like 2.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R501T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CTGAGTAGGTCTGCAGTGAGG	0.527																																																1	Substitution - Missense(1)	ovary(1)	3											116.0	115.0	115.0					3																	49337910		2203	4300	6503	49312914	SO:0001583	missense	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1502G>C	3.37:g.49337910C>G	ENSP00000265560:p.Arg501Thr		49312914	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	CCDS2793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.445584|3.445584	0.63178|0.63178	.|.	.|.	ENSG00000114316|ENSG00000114316	ENST00000431357|ENST00000351842;ENST00000265560	.|T;T	.|0.21031	.|2.03;2.15	5.83|5.83	5.83|5.83	0.93111|0.93111	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.080808	.|0.85682	.|D	.|0.000000	T|T	0.25306|0.25306	0.0615|0.0615	L|L	0.45744|0.45744	1.44|1.44	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.45768	.|0.837;0.578;0.866	.|B;B;P	.|0.46208	.|0.373;0.309;0.507	T|T	0.00521|0.00521	-1.1691|-1.1691	5|10	.|0.51188	.|T	.|0.08	-18.5278|-18.5278	12.073|12.073	0.53628|0.53628	0.0:0.921:0.0:0.079|0.0:0.921:0.0:0.079	.|.	.|454;501;501	.|Q13107-2;Q13107;Q08AK7	.|.;UBP4_HUMAN;.	H|T	239|454;501	.|ENSP00000341028:R454T;ENSP00000265560:R501T	.|ENSP00000265560:R501T	Q|R	-|-	3|2	2|0	USP4|USP4	49312914|49312914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.030000|2.030000	0.41108|0.41108	2.755000|2.755000	0.94549|0.94549	0.561000|0.561000	0.74099|0.74099	CAG|AGA		0.527	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443	
XIRP2	129446	hgsc.bcm.edu	37	2	168107660	168107660	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr2:168107660G>A	ENST00000409195.1	+	9	9847	c.9758G>A	c.(9757-9759)aGa>aAa	p.R3253K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R3031K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3253K|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3078					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R3253K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGTTCCTTCAGAGAATCTGTG	0.423																																																1	Substitution - Missense(1)	ovary(1)	2											61.0	57.0	58.0					2																	168107660		1878	4118	5996	167815906	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9758G>A	2.37:g.168107660G>A	ENSP00000386840:p.Arg3253Lys		167815906	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	8.011	0.757544	0.15846	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02140	4.43;4.43;4.43	5.61	1.45	0.22620	.	0.381248	0.30510	N	0.009468	T	0.01627	0.0052	L	0.28740	0.885	0.29420	N	0.860639	B;B;B	0.14805	0.007;0.011;0.004	B;B;B	0.13407	0.004;0.009;0.003	T	0.43956	-0.9359	10	0.14252	T	0.57	-5.8296	5.7571	0.18178	0.3109:0.0:0.5622:0.1269	.	3078;3078;3031	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	3253;3253;3031;667	ENSP00000386840:R3253K;ENSP00000295237:R3253K;ENSP00000387255:R3031K	ENSP00000295237:R3253K	R	+	2	0	XIRP2	167815906	0.450000	0.25697	0.930000	0.37139	0.191000	0.23601	0.626000	0.24492	0.374000	0.24650	0.460000	0.39030	AGA		0.423	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
