#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CDK11A	728642	broad.mit.edu	37	1	1650803	1650803	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr1:1650803C>G	ENST00000378633.1	-	4	398	c.319G>C	c.(319-321)Gaa>Caa	p.E107Q	CDK11A_ENST00000378638.2_Missense_Mutation_p.E73Q|CDK11A_ENST00000357760.2_Missense_Mutation_p.E107Q|CDK11A_ENST00000378635.3_Missense_Mutation_p.E107Q|CDK11A_ENST00000356200.3_Missense_Mutation_p.E73Q|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000404249.3_Missense_Mutation_p.E107Q|CDK11A_ENST00000358779.5_Missense_Mutation_p.E107Q			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	107	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CTACATTTTTCTTTTCTCTTT	0.388																																					Pancreas(186;965 2119 30274 40311 50569)	uc001agv.1		NA																	0				skin(1)	1						c.(319-321)GAG>CAG		cell division cycle 2-like 1 (PITSLRE proteins)							205.0	197.0	200.0					1																	1650803		1916	4135	6051	SO:0001583	missense	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1650803C>G	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.319G>C	1.37:g.1650803C>G	ENSP00000367900:p.Glu107Gln					CDK11B_uc001ags.1_5'Flank|CDK11B_uc001agt.1_5'Flank|CDK11B_uc001aha.1_Missense_Mutation_p.E73Q|CDK11B_uc001agw.1_Missense_Mutation_p.E73Q|CDK11B_uc001agy.1_Missense_Mutation_p.E107Q|CDK11B_uc001agx.1_Missense_Mutation_p.E107Q|CDK11B_uc001agz.1_5'UTR|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc009vkr.2_Missense_Mutation_p.E107Q|CDK11A_uc009vks.2_Missense_Mutation_p.E107Q|CDK11A_uc010nys.1_Missense_Mutation_p.E107Q|CDK11A_uc010nyt.1_Missense_Mutation_p.E107Q|CDK11A_uc010nyu.1_RNA|CDK11A_uc009vkt.1_Missense_Mutation_p.E107Q|CDK11A_uc009vku.1_Missense_Mutation_p.E107Q|CDK11A_uc009vkv.1_Missense_Mutation_p.E107Q|CDK11A_uc001aht.1_Missense_Mutation_p.E107Q|CDK11B_uc001ahu.1_Missense_Mutation_p.E107Q|CDK11B_uc001ahv.1_Missense_Mutation_p.E107Q|CDK11B_uc001ahw.1_Missense_Mutation_p.E107Q	p.E107Q	NM_033486	NP_277021	P21127	CD11B_HUMAN			6	430	-			107					O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37	c.319G>C		.	.	.	.	.	.	.	.	.	.	-	22.8	4.338510	0.81911	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630;ENST00000378635;ENST00000479362	T;T;T;T;T;T;T;T	0.05996	3.36;3.36;3.36;3.36;3.72;3.36;3.36;3.36	5.06	4.13	0.48395	.	0.337134	0.26163	U	0.025963	T	0.14442	0.0349	L	0.27053	0.805	0.39329	D	0.965387	D;D;D;D;D;P;D;D;D;B;D	0.76494	0.995;0.993;0.995;0.993;0.998;0.844;0.994;0.999;0.995;0.112;0.998	P;P;D;D;D;B;D;D;D;B;D	0.80764	0.837;0.714;0.958;0.968;0.994;0.445;0.977;0.987;0.954;0.029;0.969	T	0.04115	-1.0976	10	0.59425	D	0.04	.	14.4875	0.67626	0.0:0.8524:0.1476:0.0	.	107;107;107;107;107;107;73;107;107;73;107	B4E0M9;B4E0N4;E7ESP2;Q5QPR3;Q9UQ88-2;Q9UQ88-4;Q5QPR4;P21127-3;Q9UQ88;P21127-6;P21127-2	.;.;.;.;.;.;.;.;CD11A_HUMAN;.;.	Q	73;107;107;107;107;73;73;107;107	ENSP00000348529:E73Q;ENSP00000384442:E107Q;ENSP00000350403:E107Q;ENSP00000351629:E107Q;ENSP00000367900:E107Q;ENSP00000367905:E73Q;ENSP00000367902:E107Q;ENSP00000423900:E107Q	ENSP00000348529:E73Q	E	-	1	0	CDK11A	1640663	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.961000	0.76042	1.084000	0.41184	0.655000	0.94253	GAA		0.388	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		38	127	0	0	0	0	38	127				
COL11A1	1301	broad.mit.edu	37	1	103461591	103461591	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr1:103461591G>A	ENST00000370096.3	-	27	2561	c.2249C>T	c.(2248-2250)cCt>cTt	p.P750L	COL11A1_ENST00000353414.4_Missense_Mutation_p.P711L|COL11A1_ENST00000358392.2_Missense_Mutation_p.P762L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P634L	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	750	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGTGGACCAGGGGGACCCTG	0.358																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2248-2250)CCT>CTT		alpha 1 type XI collagen isoform A							40.0	45.0	43.0					1																	103461591		2201	4300	6501	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103461591G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2249C>T	1.37:g.103461591G>A	ENSP00000359114:p.Pro750Leu					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.P762L|COL11A1_uc001dun.2_Missense_Mutation_p.P711L|COL11A1_uc009weh.2_Missense_Mutation_p.P634L	p.P750L	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	27	2567	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	750			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2249C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920352	0.73098	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09	5.71	5.71	0.89125	.	0.131699	0.53938	D	0.000052	D	0.96558	0.8877	L	0.53671	1.685	0.80722	D	1	B;B;B;B	0.29301	0.241;0.002;0.004;0.001	P;B;B;B	0.47786	0.557;0.004;0.004;0.002	D	0.95303	0.8405	10	0.52906	T	0.07	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	634;711;762;750	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	L	750;762;711;634	ENSP00000359114:P750L;ENSP00000351163:P762L;ENSP00000302551:P711L;ENSP00000426533:P634L	ENSP00000302551:P711L	P	-	2	0	COL11A1	103234179	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.054000	0.64275	2.687000	0.91594	0.655000	0.94253	CCT		0.358	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		23	87	0	0	0	0	23	87				
PMVK	10654	broad.mit.edu	37	1	154897618	154897618	+	Missense_Mutation	SNP	C	C	T	rs375698500		TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr1:154897618C>T	ENST00000368467.3	-	5	871	c.566G>A	c.(565-567)cGc>cAc	p.R189H		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	189					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGTCTGGAGCGGATAAATTC	0.572																																						uc001ffq.2		NA																	0					0						c.(565-567)CGC>CAC		phosphomevalonate kinase		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	133.0	138.0	137.0		566	-6.7	0.0	1		137	0,8600		0,0,4300	no	missense	PMVK	NM_006556.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	189/193	154897618	1,13005	2203	4300	6503	SO:0001583	missense	10654				cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding	g.chr1:154897618C>T	L77213	CCDS1073.1	1q21.3	2012-09-20			ENSG00000163344	ENSG00000163344	2.7.4.2		9141	protein-coding gene	gene with protein product		607622				8663599, 10191291	Standard	NM_006556		Approved	PMK, PMKA, HUMPMKI	uc001ffq.3	Q15126	OTTHUMG00000037415	ENST00000368467.3:c.566G>A	1.37:g.154897618C>T	ENSP00000357452:p.Arg189His						p.R189H	NM_006556	NP_006547	Q15126	PMVK_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		5	889	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		189					Q5TZW9	Missense_Mutation	SNP	ENST00000368467.3	37	c.566G>A	CCDS1073.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233881	0.22626	2.27E-4	0.0	ENSG00000163344	ENST00000368467	T	0.43688	0.94	4.86	-6.69	0.01772	.	1.314760	0.04666	N	0.409868	T	0.05502	0.0145	N	0.04636	-0.2	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20472	-1.0274	10	0.07813	T	0.8	0.0425	13.7736	0.63039	0.0:0.7463:0.0:0.2537	.	189	Q15126	PMVK_HUMAN	H	189	ENSP00000357452:R189H	ENSP00000357452:R189H	R	-	2	0	PMVK	153164242	0.000000	0.05858	0.000000	0.03702	0.340000	0.28889	-1.682000	0.01935	-1.649000	0.01508	0.561000	0.74099	CGC		0.572	PMVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091088.1	NM_006556		68	116	0	0	0	0	68	116				
CACNA1E	777	broad.mit.edu	37	1	181767512	181767512	+	Missense_Mutation	SNP	G	G	A	rs373618053	byFrequency	TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr1:181767512G>A	ENST00000367573.2	+	48	6484	c.6484G>A	c.(6484-6486)Gtc>Atc	p.V2162I	CACNA1E_ENST00000360108.3_Missense_Mutation_p.V2143I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1726I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V2051I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V2119I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V2113I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.V2100I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2162					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCTCCCACCCGTCCCGCCAAA	0.627													G|||	3	0.000599042	0.0015	0.0	5008	,	,		16293	0.0		0.0	False		,,,				2504	0.001					uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(6355-6357)GTC>ATC		calcium channel, voltage-dependent, R type,		G	ILE/VAL,ILE/VAL,ILE/VAL	1,3993		0,1,1996	81.0	94.0	90.0		6355,6484,6298	3.7	0.3	1		90	1,8307		0,1,4153	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	29,29,29	0,2,6149	AA,AG,GG		0.012,0.025,0.0163	possibly-damaging,possibly-damaging,possibly-damaging	2119/2271,2162/2314,2100/2252	181767512	2,12300	1997	4154	6151	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767512G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6484G>A	1.37:g.181767512G>A	ENSP00000356545:p.Val2162Ile					CACNA1E_uc009wxs.2_Missense_Mutation_p.V2007I|CACNA1E_uc009wxt.2_Missense_Mutation_p.V1388I	p.V2119I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			47	6520	+			2162			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6355G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654889	0.67472	2.5E-4	1.2E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96300	-3.9;-3.9;-3.9;-3.9;-3.97;-3.91;-3.9	5.55	3.66	0.41972	.	0.405200	0.26432	N	0.024414	D	0.93197	0.7833	N	0.22421	0.69	0.37095	D	0.899647	D;B	0.61080	0.989;0.306	P;B	0.47915	0.561;0.038	D	0.93286	0.6664	10	0.66056	D	0.02	.	11.6544	0.51309	0.0684:0.1229:0.8087:0.0	.	2100;2119	Q15878-2;Q15878-3	.;.	I	2119;2100;2113;2051;1726;2143;2162	ENSP00000356542:V2119I;ENSP00000434814:V2100I;ENSP00000350183:V2113I;ENSP00000351101:V2051I;ENSP00000356539:V1726I;ENSP00000353222:V2143I;ENSP00000356545:V2162I	ENSP00000350183:V2113I	V	+	1	0	CACNA1E	180034135	1.000000	0.71417	0.258000	0.24420	0.878000	0.50629	3.732000	0.55021	0.665000	0.31066	-0.336000	0.08194	GTC		0.627	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		43	94	0	0	0	0	43	94				
PTPRC	5788	broad.mit.edu	37	1	198711143	198711143	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr1:198711143T>C	ENST00000367376.2	+	24	2714	c.2543T>C	c.(2542-2544)gTg>gCg	p.V848A	PTPRC_ENST00000348564.6_Missense_Mutation_p.V689A|PTPRC_ENST00000594404.1_Missense_Mutation_p.V687A|PTPRC_ENST00000442510.2_Missense_Mutation_p.V850A|PTPRC_ENST00000352140.3_Missense_Mutation_p.V800A	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	848	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GGTCCCATTGTGGTGCACTGC	0.473																																						uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(2542-2544)GTG>GCG		protein tyrosine phosphatase, receptor type, C							49.0	48.0	48.0					1																	198711143		2203	4299	6502	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198711143T>C	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2543T>C	1.37:g.198711143T>C	ENSP00000356346:p.Val848Ala					PTPRC_uc001gus.1_Missense_Mutation_p.V800A|PTPRC_uc001gut.1_Missense_Mutation_p.V687A	p.V848A	NM_002838	NP_002829	P08575	PTPRC_HUMAN			24	2723	+			848			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2543T>C		.	.	.	.	.	.	.	.	.	.	T	24.1	4.489060	0.84962	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	D	0.85629	-2.01	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.179987	0.27315	N	0.019923	D	0.93419	0.7901	M	0.87827	2.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.94257	0.7499	10	0.87932	D	0	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	689;800;848	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	A	850;800;848;687	ENSP00000193532:V800A	ENSP00000306782:V687A	V	+	2	0	PTPRC	196977766	1.000000	0.71417	0.765000	0.31456	0.742000	0.42306	7.956000	0.87863	2.326000	0.78906	0.533000	0.62120	GTG		0.473	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				5	22	0	0	0	0	5	22				
CUBN	8029	broad.mit.edu	37	10	16942822	16942822	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr10:16942822G>A	ENST00000377833.4	-	53	8277	c.8212C>T	c.(8212-8214)Ccc>Tcc	p.P2738S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2738	CUB 20. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTGTATGGGGTTCAATATCA	0.433																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(8212-8214)CCC>TCC		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						70.0	62.0	65.0					10																	16942822		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16942822G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8212C>T	10.37:g.16942822G>A	ENSP00000367064:p.Pro2738Ser					CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.P94S	p.P2738S	NM_001081	NP_001072	O60494	CUBN_HUMAN			53	8264	-			2738			CUB 20.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.8212C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	1.402	-0.577877	0.03854	.	.	ENSG00000107611	ENST00000377833	T	0.16073	2.37	5.69	-11.4	0.00090	CUB (5);	4.053360	0.00622	N	0.000448	T	0.04907	0.0132	N	0.05280	-0.08	0.25466	N	0.987876	B	0.02656	0.0	B	0.04013	0.001	T	0.29305	-1.0016	10	0.08179	T	0.78	.	1.6689	0.02808	0.2386:0.1252:0.3469:0.2894	.	2738	O60494	CUBN_HUMAN	S	2738	ENSP00000367064:P2738S	ENSP00000367064:P2738S	P	-	1	0	CUBN	16982828	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.387000	0.01060	-3.955000	0.00087	-1.990000	0.00449	CCC		0.433	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		3	29	0	0	0	0	3	29				
POLR2L	5441	broad.mit.edu	37	11	840466	840466	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr11:840466G>T	ENST00000322028.4	-	2	146	c.110C>A	c.(109-111)gCc>gAc	p.A37D	TSPAN4_ENST00000397408.1_5'Flank|TSPAN4_ENST00000397397.2_5'Flank|TSPAN4_ENST00000397396.1_5'Flank|TSPAN4_ENST00000397411.2_5'Flank	NM_021128.4	NP_066951.1	P62875	RPAB5_HUMAN	polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa	37					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			lung(1)	1		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGGCCCAGGGCATCCAGCGC	0.622																																						uc001lsc.2		NA																	0					0						c.(109-111)GCC>GAC		DNA directed RNA polymerase II polypeptide L							108.0	86.0	94.0					11																	840466		2203	4298	6501	SO:0001583	missense	5441				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding	g.chr11:840466G>T	U37690	CCDS7720.1	11p15	2013-01-21	2002-08-29		ENSG00000177700	ENSG00000177700		"""RNA polymerase subunits"""	9199	protein-coding gene	gene with protein product		601189	"""polymerase (RNA) II (DNA directed) polypeptide L (7.6kD)"""			8786124	Standard	NM_021128		Approved	RPB10beta, RBP10, RPABC5, RPB7.6, hRPB7.6, hsRPB10b	uc001lsc.3	P62875	OTTHUMG00000133316	ENST00000322028.4:c.110C>A	11.37:g.840466G>T	ENSP00000324124:p.Ala37Asp					TSPAN4_uc001lsd.1_5'Flank|TSPAN4_uc001lse.1_5'Flank|TSPAN4_uc001lsf.1_5'Flank|TSPAN4_uc001lsg.1_5'Flank|TSPAN4_uc001lsh.1_5'Flank	p.A37D	NM_021128	NP_066951	P62875	RPAB5_HUMAN		all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	131	-		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)	37					P52436|Q6FHX3	Missense_Mutation	SNP	ENST00000322028.4	37	c.110C>A	CCDS7720.1	.	.	.	.	.	.	.	.	.	.	G	2.802	-0.248893	0.05867	.	.	ENSG00000177700	ENST00000322028	.	.	.	5.08	3.16	0.36331	Homeodomain-related (1);RNA polymerase subunit RPB10 (1);	0.122646	0.53938	D	0.000048	T	0.39627	0.1085	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.11275	-1.0594	8	0.16896	T	0.51	-2.6906	9.5233	0.39149	0.0755:0.0:0.782:0.1425	.	37	P62875	RPAB5_HUMAN	D	37	.	ENSP00000324124:A37D	A	-	2	0	POLR2L	830466	1.000000	0.71417	0.016000	0.15963	0.093000	0.18481	8.732000	0.91534	0.695000	0.31675	-0.373000	0.07131	GCC		0.622	POLR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257114.1	NM_021128		41	75	1	0	7.53e-24	8.83e-24	41	75				
FAM90A1	55138	broad.mit.edu	37	12	8375146	8375146	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr12:8375146G>C	ENST00000538603.1	-	7	1225	c.667C>G	c.(667-669)Ctc>Gtc	p.L223V	FAM90A1_ENST00000307435.6_Missense_Mutation_p.L223V	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	223							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		ACCACGAGGAGAGGCTCGGGG	0.647																																						uc001qui.2		NA																	0				ovary(1)	1						c.(667-669)CTC>GTC		hypothetical protein LOC55138							37.0	61.0	53.0					12																	8375146		2063	4196	6259	SO:0001583	missense	55138						nucleic acid binding|zinc ion binding	g.chr12:8375146G>C	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.667C>G	12.37:g.8375146G>C	ENSP00000445418:p.Leu223Val					FAM90A1_uc001quh.2_Missense_Mutation_p.L223V	p.L223V	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	7	1226	-			223					D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	c.667C>G	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	9.594	1.126869	0.20959	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.16073	2.37;2.37	0.722	-1.11	0.09840	.	.	.	.	.	T	0.18425	0.0442	L	0.39898	1.24	0.09310	N	1	D	0.60575	0.988	P	0.56042	0.79	T	0.22906	-1.0203	8	0.13853	T	0.58	1.683	.	.	.	.	223	Q86YD7	F90A1_HUMAN	V	223	ENSP00000307798:L223V;ENSP00000445418:L223V	ENSP00000307798:L223V	L	-	1	0	FAM90A1	8266413	0.009000	0.17119	0.001000	0.08648	0.006000	0.05464	0.308000	0.19314	-0.289000	0.09038	0.194000	0.17425	CTC		0.647	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		33	57	0	0	0	0	33	57				
PIP4K2C	79837	broad.mit.edu	37	12	57988994	57988994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr12:57988994C>T	ENST00000354947.5	+	3	374	c.358C>T	c.(358-360)Caa>Taa	p.Q120*	PIP4K2C_ENST00000422156.3_Nonsense_Mutation_p.Q120*|PIP4K2C_ENST00000540759.2_Nonsense_Mutation_p.Q120*|PIP4K2C_ENST00000550465.1_Nonsense_Mutation_p.Q102*			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	120	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CATTGATGACCAAGATTACTT	0.463																																						uc001sou.2		NA																	0				central_nervous_system(2)|lung(1)	3						c.(358-360)CAA>TAA		phosphatidylinositol-5-phosphate 4-kinase, type							158.0	162.0	161.0					12																	57988994		2203	4300	6503	SO:0001587	stop_gained	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57988994C>T	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.358C>T	12.37:g.57988994C>T	ENSP00000347032:p.Gln120*					PIP4K2C_uc001sot.2_Nonsense_Mutation_p.Q120*|PIP4K2C_uc010srs.1_Nonsense_Mutation_p.Q102*|PIP4K2C_uc010srt.1_Nonsense_Mutation_p.Q120*	p.Q120*	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN			3	489	+	Melanoma(17;0.122)		120			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Nonsense_Mutation	SNP	ENST00000354947.5	37	c.358C>T	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	C	36	5.750726	0.96890	.	.	ENSG00000166908	ENST00000422156;ENST00000540759;ENST00000436866;ENST00000551772;ENST00000550465;ENST00000354947	.	.	.	5.48	5.48	0.80851	.	0.135490	0.50627	D	0.000101	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-10.4896	18.4973	0.90869	0.0:1.0:0.0:0.0	.	.	.	.	X	120;120;120;99;102;120	.	ENSP00000347032:Q120X	Q	+	1	0	PIP4K2C	56275261	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.731000	0.84895	2.747000	0.94245	0.462000	0.41574	CAA		0.463	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		130	147	0	0	0	0	130	147				
SACS	26278	broad.mit.edu	37	13	23906082	23906082	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr13:23906082A>C	ENST00000382292.3	-	9	12206	c.11933T>G	c.(11932-11934)cTt>cGt	p.L3978R	SACS_ENST00000402364.1_Missense_Mutation_p.L3228R|SACS_ENST00000382298.3_Missense_Mutation_p.L3978R			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3978					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTGTTCTTCAAGTATACTGCT	0.398																																						uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(11932-11934)CTT>CGT		sacsin							107.0	109.0	109.0					13																	23906082		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23906082A>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11933T>G	13.37:g.23906082A>C	ENSP00000371729:p.Leu3978Arg					SACS_uc001uoo.2_Missense_Mutation_p.L3831R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.L3978R	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12522	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3978					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.11933T>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354743	0.61293	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88354	-2.23;-2.37;-2.23	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.89396	0.6703	N	0.19112	0.55	0.58432	D	0.999992	D	0.71674	0.998	D	0.63381	0.914	D	0.91337	0.5094	10	0.87932	D	0	.	15.8552	0.78972	1.0:0.0:0.0:0.0	.	3978	Q9NZJ4	SACS_HUMAN	R	3978;3228;3978	ENSP00000371729:L3978R;ENSP00000385844:L3228R;ENSP00000371735:L3978R	ENSP00000371729:L3978R	L	-	2	0	SACS	22804082	1.000000	0.71417	0.941000	0.38009	0.490000	0.33462	9.339000	0.96797	2.138000	0.66242	0.533000	0.62120	CTT		0.398	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		23	79	0	0	0	0	23	79				
AJUBA	84962	broad.mit.edu	37	14	23445688	23445688	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr14:23445688A>T	ENST00000262713.2	-	4	1591	c.1216T>A	c.(1216-1218)Tgt>Agt	p.C406S	AJUBA_ENST00000361265.4_Missense_Mutation_p.C406S|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_5'UTR	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	406	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										AAGTGACCACAGACACAGCAT	0.453																																						uc001whz.2		NA																	0					0						c.(1216-1218)TGT>AGT		ajuba isoform 1							186.0	196.0	193.0					14																	23445688		2203	4300	6503	SO:0001583	missense	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23445688A>T	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1216T>A	14.37:g.23445688A>T	ENSP00000262713:p.Cys406Ser					JUB_uc001why.2_5'UTR	p.C406S	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	4	1592	-	all_cancers(95;4.6e-05)		406			LIM zinc-binding 2.		A8MX18|D3DS37	Missense_Mutation	SNP	ENST00000262713.2	37	c.1216T>A	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.873921	0.91664	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	D;D	0.99311	-5.73;-5.73	5.67	5.67	0.87782	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97078	0.9782	10	0.87932	D	0	.	13.868	0.63600	1.0:0.0:0.0:0.0	.	406	Q96IF1	JUB_HUMAN	S	406	ENSP00000262713:C406S;ENSP00000354491:C406S	ENSP00000262713:C406S	C	-	1	0	JUB	22515528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.494000	0.90477	2.164000	0.68074	0.482000	0.46254	TGT		0.453	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			114	60	0	0	0	0	114	60				
ACOT1	641371	broad.mit.edu	37	14	74004392	74004392	+	Silent	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr14:74004392C>T	ENST00000311148.4	+	1	575	c.267C>T	c.(265-267)ccC>ccT	p.P89P	HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000560393.1_Intron|ACOT1_ENST00000557556.1_Silent_p.P89P	NM_001037161.1	NP_001032238.1	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	89					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		CCGAGAAACCCTTGGTGCGGC	0.736																																						uc001xol.1		NA																	0					0						c.(265-267)CCC>CCT		acyl-CoA thioesterase 1							10.0	9.0	9.0					14																	74004392		1754	3064	4818	SO:0001819	synonymous_variant	641371				acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	cytosol	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74004392C>T	DQ082754	CCDS32117.1	14q24.3	2013-09-20			ENSG00000184227	ENSG00000184227		"""Acyl CoA thioesterases"""	33128	protein-coding gene	gene with protein product		614313				16103133, 16940157	Standard	NM_001037161		Approved	ACH2, CTE-1, LACH2		Q86TX2	OTTHUMG00000171607	ENST00000311148.4:c.267C>T	14.37:g.74004392C>T						HEATR4_uc010tua.1_Intron|ACOT1_uc010tuc.1_Silent_p.P89P	p.P89P	NM_001037161	NP_001032238	Q86TX2	ACOT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)	1	465	+			89					A1L173|Q3I5F9	Silent	SNP	ENST00000311148.4	37	c.267C>T	CCDS32117.1																																																																																				0.736	ACOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414432.1	NM_001037161		4	16	0	0	0	0	4	16				
CDAN1	146059	broad.mit.edu	37	15	43023151	43023151	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr15:43023151T>C	ENST00000356231.3	-	13	2002	c.1979A>G	c.(1978-1980)cAg>cGg	p.Q660R		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	660					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AATGGAGTCCTGAAGCTCACC	0.607																																						uc001zql.2		NA																	0				ovary(2)	2						c.(1978-1980)CAG>CGG		codanin 1							74.0	85.0	81.0					15																	43023151		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43023151T>C	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1979A>G	15.37:g.43023151T>C	ENSP00000348564:p.Gln660Arg					CDAN1_uc001zqj.2_5'Flank|CDAN1_uc001zqk.2_5'UTR	p.Q660R	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	13	2096	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	660					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.1979A>G	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.492561	0.64074	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.88124	-2.34	5.62	5.62	0.85841	.	0.114883	0.64402	D	0.000012	D	0.88347	0.6412	L	0.45581	1.43	0.45342	D	0.998332	D	0.67145	0.996	P	0.61477	0.889	D	0.85401	0.1131	10	0.21014	T	0.42	-18.3271	10.3269	0.43798	0.1463:0.0:0.0:0.8537	.	660	Q8IWY9	CDAN1_HUMAN	R	660;658	ENSP00000348564:Q660R	ENSP00000267892:Q658R	Q	-	2	0	CDAN1	40810443	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.501000	0.45389	2.136000	0.66102	0.533000	0.62120	CAG		0.607	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		4	132	0	0	0	0	4	132				
ISL2	64843	broad.mit.edu	37	15	76633517	76633517	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr15:76633517C>G	ENST00000290759.4	+	5	998	c.838C>G	c.(838-840)Ccc>Gcc	p.P280A	RP11-685G9.2_ENST00000559539.1_RNA|RP11-685G9.4_ENST00000602530.1_lincRNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	280	LIM-binding domain (LID). {ECO:0000250}.				negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GGCGGGCAGTCCCATCCGCCA	0.657																																					GBM(97;953 1391 16164 31496 36951)	uc002bbw.1		NA																	0					0						c.(838-840)CCC>GCC		ISL LIM homeobox 2							28.0	30.0	29.0					15																	76633517		2197	4294	6491	SO:0001583	missense	64843					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:76633517C>G	AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"""Homeoboxes / LIM class"""	18524	protein-coding gene	gene with protein product		609481	"""ISL2 transcription factor, LIM/homeodomain, (islet-2)"""				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.838C>G	15.37:g.76633517C>G	ENSP00000290759:p.Pro280Ala						p.P280A	NM_145805	NP_665804	Q96A47	ISL2_HUMAN			5	916	+			280					B3KM37	Missense_Mutation	SNP	ENST00000290759.4	37	c.838C>G	CCDS10290.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650827	0.87958	.	.	ENSG00000159556	ENST00000290759	D	0.86432	-2.12	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.89989	0.6875	M	0.81942	2.565	0.80722	D	1	P	0.51449	0.945	P	0.49140	0.601	D	0.91711	0.5381	10	0.72032	D	0.01	.	14.4741	0.67535	0.0:1.0:0.0:0.0	.	280	Q96A47	ISL2_HUMAN	A	280	ENSP00000290759:P280A	ENSP00000290759:P280A	P	+	1	0	ISL2	74420572	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.546000	0.82137	2.252000	0.74401	0.491000	0.48974	CCC		0.657	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1			15	29	0	0	0	0	15	29				
RPL3L	6123	broad.mit.edu	37	16	1991308	1991308	+	IGR	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr16:1991308C>T	ENST00000268661.7	-	0	2182				MSRB1_ENST00000361871.3_Missense_Mutation_p.A52T|MSRB1_ENST00000489198.1_5'UTR|MSRB1_ENST00000564908.1_Missense_Mutation_p.A52T|MSRB1_ENST00000399753.2_Missense_Mutation_p.A52T	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						ACGCTGTCGGCGTGAATGGTC	0.622																																						uc010uvs.1		NA																	0				ovary(1)	1						c.(154-156)GCC>ACC		selenoprotein X, 1	L-Methionine(DB00134)						53.0	54.0	54.0					16																	1991308		2039	4179	6218	SO:0001628	intergenic_variant	51734				protein repair	cytoplasm|nucleus	peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding	g.chr16:1991308C>T	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685		16.37:g.1991308C>T							p.A52T	NM_016332	NP_057416	Q9NZV6	MSRB1_HUMAN			2	291	-			52						Missense_Mutation	SNP	ENST00000268661.7	37	c.154G>A	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606665	0.28623	.	.	ENSG00000198736	ENST00000361871;ENST00000399753	T;T	0.76578	-1.03;-1.03	4.94	1.55	0.23275	Mss4-like (1);Methionine sulphoxide reductase B (2);	0.525769	0.19888	N	0.103798	T	0.61540	0.2355	L	0.33753	1.03	0.09310	N	1	B	0.22146	0.065	B	0.15052	0.012	T	0.48547	-0.9026	10	0.33141	T	0.24	-8.9132	6.2927	0.21069	0.0:0.5497:0.29:0.1603	.	52	Q9NZV6	MSRB1_HUMAN	T	52	ENSP00000355084:A52T;ENSP00000382657:A52T	ENSP00000355084:A52T	A	-	1	0	SEPX1	1931309	0.000000	0.05858	0.073000	0.20177	0.195000	0.23768	0.313000	0.19415	1.055000	0.40461	0.655000	0.94253	GCC		0.622	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		7	50	0	0	0	0	7	50				
CYLD	1540	broad.mit.edu	37	16	50816274	50816274	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr16:50816274A>T	ENST00000427738.3	+	10	1928	c.1723A>T	c.(1723-1725)Act>Tct	p.T575S	CYLD_ENST00000568704.2_Missense_Mutation_p.T390S|CYLD_ENST00000566206.1_Missense_Mutation_p.T572S|CYLD_ENST00000569418.1_Missense_Mutation_p.T572S|CYLD_ENST00000398568.2_Missense_Mutation_p.T572S|CYLD_ENST00000540145.1_Missense_Mutation_p.T575S|CYLD_ENST00000564326.1_Missense_Mutation_p.T572S|RP11-327F22.4_ENST00000575917.1_RNA|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.T575S			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	575	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AGAAGAAAATACTCCACCAAA	0.303			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc002egp.1		NA	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		0				skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(1723-1725)ACT>TCT		ubiquitin carboxyl-terminal hydrolase CYLD							93.0	84.0	87.0					16																	50816274		1809	4076	5885	SO:0001583	missense	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50816274A>T	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1723A>T	16.37:g.50816274A>T	ENSP00000392025:p.Thr575Ser					CYLD_uc002ego.2_Missense_Mutation_p.T572S|CYLD_uc010cbs.1_Missense_Mutation_p.T572S|CYLD_uc002egq.1_Missense_Mutation_p.T572S|CYLD_uc002egr.1_Missense_Mutation_p.T572S|CYLD_uc002egs.1_Missense_Mutation_p.T572S	p.T575S	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			11	2138	+		all_cancers(37;0.0156)	575			Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.1723A>T	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.772482	0.90108	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.73152	-0.72;-0.72;-0.72	5.61	5.61	0.85477	Cytoskeleton-associated protein, Gly-rich domain (1);	0.044311	0.85682	D	0.000000	T	0.75391	0.3843	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.71674	0.997;0.998;0.998;0.997	D;D;D;D	0.76071	0.97;0.987;0.987;0.97	T	0.78922	-0.2013	10	0.66056	D	0.02	-21.2581	15.8025	0.78463	1.0:0.0:0.0:0.0	.	572;575;572;575	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	S	575;575;572;572	ENSP00000445447:T575S;ENSP00000308928:T575S;ENSP00000381574:T572S	ENSP00000308928:T575S	T	+	1	0	CYLD	49373775	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.861000	0.92277	2.127000	0.65507	0.482000	0.46254	ACT		0.303	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			12	21	0	0	0	0	12	21				
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr17:7578550G>T	ENST00000269305.4	-	5	569	c.380C>A	c.(379-381)tCc>tAc	p.S127Y	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.S127Y|TP53_ENST00000413465.2_Missense_Mutation_p.S127Y|TP53_ENST00000455263.2_Missense_Mutation_p.S127Y|TP53_ENST00000445888.2_Missense_Mutation_p.S127Y|TP53_ENST00000420246.2_Missense_Mutation_p.S127Y	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	127	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(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)	GAGGGCAGGGGAGTACTGTAG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		73	Substitution - Missense(41)|Deletion - In frame(10)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(4)|Unknown(1)	p.S127F(18)|p.S127Y(8)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.S127P(3)|p.S127T(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127C(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S127fs*43(1)|p.S127fs*42(1)|p.Y126fs*18(1)	lung(13)|ovary(8)|upper_aerodigestive_tract(7)|large_intestine(6)|central_nervous_system(6)|skin(5)|NS(4)|prostate(4)|bone(4)|urinary_tract(3)|breast(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|oesophagus(2)|biliary_tract(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(379-381)TCC>TAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							44.0	44.0	44.0					17																	7578550		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578550G>T	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.380C>A	17.37:g.7578550G>T	ENSP00000269305:p.Ser127Tyr	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)				TP53_uc002gig.1_Missense_Mutation_p.S127Y|TP53_uc002gih.2_Missense_Mutation_p.S127Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.S127Y|TP53_uc010cni.1_Missense_Mutation_p.S127Y|TP53_uc002gij.2_Missense_Mutation_p.S127Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.S34Y|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.S88Y	p.S127Y	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	574	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	127		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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	c.380C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276306	0.80580	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99940	-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39	5.48	4.51	0.55191	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	0.99933	0.9970	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.995;1.0;1.0;1.0	D	0.95614	0.8675	10	0.87932	D	0	-30.2503	12.2742	0.54724	0.0828:0.0:0.9172:0.0	.	88;127;127;34;127;127;127	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	127;127;127;127;127;127;116;34;34;127;127	ENSP00000410739:S127Y;ENSP00000352610:S127Y;ENSP00000269305:S127Y;ENSP00000398846:S127Y;ENSP00000391127:S127Y;ENSP00000391478:S127Y;ENSP00000423862:S34Y;ENSP00000424104:S127Y;ENSP00000426252:S127Y	ENSP00000269305:S127Y	S	-	2	0	TP53	7519275	1.000000	0.71417	0.890000	0.34922	0.931000	0.56810	9.763000	0.98947	1.448000	0.47680	0.655000	0.94253	TCC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	29	1	0	1.02e-10	1.16e-10	21	29				
ARMC6	93436	broad.mit.edu	37	19	19162842	19162842	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr19:19162842C>T	ENST00000535612.1	+	5	1123	c.691C>T	c.(691-693)Cat>Tat	p.H231Y	ARMC6_ENST00000269932.6_Missense_Mutation_p.H206Y|ARMC6_ENST00000392335.2_Missense_Mutation_p.H206Y|ARMC6_ENST00000392336.3_Missense_Mutation_p.H231Y|ARMC6_ENST00000546344.1_Missense_Mutation_p.H138Y	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	231					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			TGCCATCACCCATCATGGCCA	0.592																																						uc002nld.2		NA																	0					0						c.(691-693)CAT>TAT		armadillo repeat containing 6							91.0	54.0	67.0					19																	19162842		2203	4300	6503	SO:0001583	missense	93436						protein binding	g.chr19:19162842C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.691C>T	19.37:g.19162842C>T	ENSP00000444156:p.His231Tyr					ARMC6_uc002nlc.2_Missense_Mutation_p.H206Y|ARMC6_uc010xql.1_Missense_Mutation_p.H138Y|ARMC6_uc002nle.2_Missense_Mutation_p.H206Y|ARMC6_uc010xqm.1_Missense_Mutation_p.H231Y	p.H231Y	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		5	1039	+			231			ARM 1.		B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.691C>T	CCDS56089.1	.	.	.	.	.	.	.	.	.	.	C	4.637	0.118335	0.08881	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000537263;ENST00000269932;ENST00000546344;ENST00000541898;ENST00000535288;ENST00000545190;ENST00000379532;ENST00000392336	T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.32	3.09	0.35607	Armadillo-like helical (1);Armadillo-type fold (1);	0.920026	0.09397	N	0.807681	T	0.37404	0.1002	N	0.14661	0.345	0.09310	N	1	P	0.38978	0.652	B	0.41510	0.359	T	0.34700	-0.9818	10	0.59425	D	0.04	-13.803	12.9456	0.58371	0.4085:0.5915:0.0:0.0	.	231	Q6NXE6	ARMC6_HUMAN	Y	206;231;206;206;138;206;138;142;142;231	ENSP00000376147:H206Y;ENSP00000444156:H231Y;ENSP00000441948:H206Y;ENSP00000269932:H206Y;ENSP00000444341:H138Y;ENSP00000446037:H206Y;ENSP00000437580:H138Y;ENSP00000376148:H231Y	ENSP00000269932:H206Y	H	+	1	0	ARMC6	19023842	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.619000	0.24388	1.214000	0.43395	0.561000	0.74099	CAT		0.592	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		7	44	0	0	0	0	7	44				
RYR1	6261	broad.mit.edu	37	19	38991629	38991629	+	Splice_Site	SNP	C	C	T	rs575446156		TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr19:38991629C>T	ENST00000359596.3	+	47	7613	c.7613C>T	c.(7612-7614)aCg>aTg	p.T2538M	RYR1_ENST00000360985.3_Splice_Site_p.T2538M|RYR1_ENST00000355481.4_Splice_Site_p.T2538M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2538	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCGCTGGACACGGTGAGCAAC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		16923	0.001		0.0	False		,,,				2504	0.0					uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(7612-7614)ACG>ATG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						35.0	27.0	29.0					19																	38991629		2203	4300	6503	SO:0001630	splice_region_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38991629C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7614+1C>T	19.37:g.38991629C>T						RYR1_uc002oiu.2_Missense_Mutation_p.T2538M|RYR1_uc002oiv.1_Translation_Start_Site	p.T2538M	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		47	7743	+	all_cancers(60;7.91e-06)		2538			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7613C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342726	0.61073	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96554	-4.05;-4.05;-4.05	4.41	4.41	0.53225	.	0.000000	0.64402	U	0.000001	D	0.97788	0.9274	M	0.77820	2.39	0.50039	D	0.999848	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.926	D	0.98556	1.0639	10	0.72032	D	0.01	.	15.9284	0.79639	0.0:1.0:0.0:0.0	.	2538;2538	P21817-2;P21817	.;RYR1_HUMAN	M	2538	ENSP00000352608:T2538M;ENSP00000347667:T2538M;ENSP00000354254:T2538M	ENSP00000347667:T2538M	T	+	2	0	RYR1	43683469	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.621000	0.83083	2.259000	0.74868	0.491000	0.48974	ACG		0.612	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Missense_Mutation	8	14	0	0	0	0	8	14				
LTBP1	4052	broad.mit.edu	37	2	33623487	33623487	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr2:33623487T>C	ENST00000404816.2	+	34	5394	c.5041T>C	c.(5041-5043)Tgc>Cgc	p.C1681R	LTBP1_ENST00000402934.1_Missense_Mutation_p.C1300R|LTBP1_ENST00000407925.1_Missense_Mutation_p.C1355R|LTBP1_ENST00000354476.3_Missense_Mutation_p.C1682R|LTBP1_ENST00000418533.2_Missense_Mutation_p.C1313R|LTBP1_ENST00000272273.5_Missense_Mutation_p.C579R|LTBP1_ENST00000404525.1_Missense_Mutation_p.C1302R|LTBP1_ENST00000390003.4_Missense_Mutation_p.C1356R			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1681	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GAATGCCAAGTGCATTAACAC	0.438																																						uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(5044-5046)TGC>CGC		latent transforming growth factor beta binding							169.0	124.0	140.0					2																	33623487		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33623487T>C		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.5041T>C	2.37:g.33623487T>C	ENSP00000386043:p.Cys1681Arg					LTBP1_uc002rot.2_Missense_Mutation_p.C1356R|LTBP1_uc002rou.2_Missense_Mutation_p.C1355R|LTBP1_uc002rov.2_Missense_Mutation_p.C1302R|LTBP1_uc010ymz.1_Missense_Mutation_p.C1313R|LTBP1_uc010yna.1_Missense_Mutation_p.C1260R|LTBP1_uc010ynb.1_Missense_Mutation_p.C579R	p.C1682R	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			34	5044	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1681			EGF-like 18; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.5044T>C	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	T	20.3	3.968440	0.74131	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	D;D;D;D;D;D;D;D	0.99445	-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91	5.48	5.48	0.80851	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99771	0.9906	H	0.98918	4.37	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.997;1.0;0.999;0.999;0.999	D	0.96843	0.9619	9	0.87932	D	0	.	15.8734	0.79141	0.0:0.0:0.0:1.0	.	579;1681;1313;1302;1355;1356;1682	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	R	1681;1682;1356;1313;1300;1302;1355;579	ENSP00000386043:C1681R;ENSP00000346467:C1682R;ENSP00000374653:C1356R;ENSP00000393057:C1313R;ENSP00000384373:C1300R;ENSP00000385359:C1302R;ENSP00000384091:C1355R;ENSP00000272273:C579R	ENSP00000272273:C579R	C	+	1	0	LTBP1	33476991	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.905000	0.87416	2.204000	0.70986	0.528000	0.53228	TGC		0.438	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		40	50	0	0	0	0	40	50				
CYP27C1	339761	broad.mit.edu	37	2	127958736	127958736	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr2:127958736C>T	ENST00000335247.7	-	3	480	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	CYP27C1_ENST00000409327.1_Missense_Mutation_p.R117Q	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	117						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GCAGAATTCCCGCCAGGGCTT	0.522																																						uc002tod.2		NA																	0					0						c.(349-351)CGG>CAG		cytochrome P450, family 27, subfamily C,							93.0	104.0	100.0					2																	127958736		2203	4300	6503	SO:0001583	missense	339761					membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:127958736C>T	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.350G>A	2.37:g.127958736C>T	ENSP00000334128:p.Arg117Gln						p.R117Q	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.071)	3	481	-	Colorectal(110;0.1)		117					Q6ZNI7	Missense_Mutation	SNP	ENST00000335247.7	37	c.350G>A	CCDS33285.1	.	.	.	.	.	.	.	.	.	.	C	8.752	0.921545	0.17982	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.70749	-0.51;-0.51	4.06	-3.63	0.04529	.	0.485686	0.20195	N	0.097239	T	0.46444	0.1393	N	0.24115	0.695	0.21652	N	0.999604	B	0.15930	0.015	B	0.13407	0.009	T	0.23261	-1.0193	10	0.22706	T	0.39	-12.5418	6.5745	0.22557	0.1137:0.4911:0.0:0.3952	.	117	Q4G0S4	C27C1_HUMAN	Q	117	ENSP00000334128:R117Q;ENSP00000387198:R117Q	ENSP00000334128:R117Q	R	-	2	0	CYP27C1	127675206	0.191000	0.23288	0.688000	0.30117	0.602000	0.36980	0.297000	0.19101	-0.780000	0.04553	-0.140000	0.14226	CGG		0.522	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665		64	118	0	0	0	0	64	118				
CPS1	1373	broad.mit.edu	37	2	211441130	211441130	+	Silent	SNP	T	T	C			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr2:211441130T>C	ENST00000233072.5	+	3	493	c.297T>C	c.(295-297)ccT>ccC	p.P99P	CPS1_ENST00000430249.2_Silent_p.P105P	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	99	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGGCCAACCCTATTATTGGGA	0.428																																						uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(295-297)CCT>CCC		carbamoyl-phosphate synthetase 1 isoform b							181.0	166.0	171.0					2																	211441130		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211441130T>C	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.297T>C	2.37:g.211441130T>C						CPS1_uc010fur.2_Silent_p.P105P	p.P99P	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	3	429	+			99			Anthranilate phosphoribosyltransferase homolog.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.297T>C	CCDS2393.1																																																																																				0.428	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			3	117	0	0	0	0	3	117				
PREX1	57580	broad.mit.edu	37	20	47244457	47244457	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr20:47244457C>T	ENST00000371941.3	-	38	4833	c.4811G>A	c.(4810-4812)cGg>cAg	p.R1604Q	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1604					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCCGTGGCTCCGTGCCAAGAT	0.692																																						uc002xtw.1		NA																	0				lung(3)|ovary(2)|pancreas(1)	6						c.(4810-4812)CGG>CAG		phosphatidylinositol-3,4,							49.0	37.0	41.0					20																	47244457		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47244457C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4811G>A	20.37:g.47244457C>T	ENSP00000361009:p.Arg1604Gln					PREX1_uc002xtv.1_Missense_Mutation_p.R901Q	p.R1604Q	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		38	4834	-			1604					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.4811G>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	c	32	5.146019	0.94603	.	.	ENSG00000124126	ENST00000371941	T	0.63096	-0.02	4.31	4.31	0.51392	.	0.000000	0.48767	U	0.000173	T	0.76926	0.4056	L	0.61387	1.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80480	-0.1364	10	0.72032	D	0.01	.	16.7877	0.85578	0.0:1.0:0.0:0.0	.	1604;901	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	Q	1604	ENSP00000361009:R1604Q	ENSP00000361009:R1604Q	R	-	2	0	PREX1	46677864	1.000000	0.71417	0.994000	0.49952	0.890000	0.51754	7.437000	0.80417	1.949000	0.56562	0.457000	0.33378	CGG		0.692	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		11	30	0	0	0	0	11	30				
NKTR	4820	broad.mit.edu	37	3	42676726	42676726	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr3:42676726C>G	ENST00000232978.8	+	12	1219	c.1031C>G	c.(1030-1032)cCt>cGt	p.P344R	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	344					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TATCACACACCTCCAAGATCA	0.398																																						uc003clo.2		NA																	0				ovary(2)|skin(1)	3						c.(1030-1032)CCT>CGT		natural killer-tumor recognition sequence							97.0	93.0	94.0					3																	42676726		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42676726C>G		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1031C>G	3.37:g.42676726C>G	ENSP00000232978:p.Pro344Arg					NKTR_uc003clm.1_Missense_Mutation_p.P91R|NKTR_uc003clp.2_Missense_Mutation_p.P91R|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.P234R|NKTR_uc003clr.1_Missense_Mutation_p.P91R|NKTR_uc003cls.2_Missense_Mutation_p.P44R	p.P344R	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	12	1178	+			344						Missense_Mutation	SNP	ENST00000232978.8	37	c.1031C>G	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692514	0.88735	.	.	ENSG00000114857	ENST00000232978	T	0.33216	1.42	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.68435	-0.5409	10	0.72032	D	0.01	-17.7953	20.1862	0.98216	0.0:1.0:0.0:0.0	.	44;344	Q6M1B8;P30414	.;NKTR_HUMAN	R	344	ENSP00000232978:P344R	ENSP00000232978:P344R	P	+	2	0	NKTR	42651730	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.456000	0.80751	2.776000	0.95493	0.650000	0.86243	CCT		0.398	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		31	9	0	0	0	0	31	9				
NKTR	4820	broad.mit.edu	37	3	42680280	42680280	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr3:42680280G>T	ENST00000232978.8	+	13	3272	c.3084G>T	c.(3082-3084)gaG>gaT	p.E1028D	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1028					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AGGAGGAGGAGGAGATTGATG	0.358																																						uc003clo.2		NA																	0				ovary(2)|skin(1)	3						c.(3082-3084)GAG>GAT		natural killer-tumor recognition sequence							51.0	58.0	55.0					3																	42680280		2201	4298	6499	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680280G>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3084G>T	3.37:g.42680280G>T	ENSP00000232978:p.Glu1028Asp					NKTR_uc003clm.1_Missense_Mutation_p.E775D|NKTR_uc003clp.2_Missense_Mutation_p.E775D|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.E918D|NKTR_uc003clr.1_Missense_Mutation_p.E775D|NKTR_uc003cls.2_Missense_Mutation_p.E728D	p.E1028D	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3231	+			1028						Missense_Mutation	SNP	ENST00000232978.8	37	c.3084G>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.119956	0.37436	.	.	ENSG00000114857	ENST00000232978	T	0.22134	1.97	5.03	1.07	0.20283	.	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	M	0.69823	2.125	0.80722	D	1	P;B	0.42357	0.777;0.289	B;B	0.39068	0.289;0.151	T	0.03121	-1.1070	10	0.87932	D	0	-19.5671	7.1574	0.25645	0.3169:0.0:0.5728:0.1103	.	728;1028	Q6M1B8;P30414	.;NKTR_HUMAN	D	1028	ENSP00000232978:E1028D	ENSP00000232978:E1028D	E	+	3	2	NKTR	42655284	0.998000	0.40836	0.997000	0.53966	0.997000	0.91878	0.311000	0.19380	0.231000	0.21079	0.650000	0.86243	GAG		0.358	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		48	22	1	0	2.75e-27	3.24e-27	48	22				
BOC	91653	broad.mit.edu	37	3	112993314	112993314	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr3:112993314A>G	ENST00000495514.1	+	9	2031	c.1327A>G	c.(1327-1329)Agg>Ggg	p.R443G	BOC_ENST00000273395.4_Missense_Mutation_p.R443G|BOC_ENST00000355385.3_Missense_Mutation_p.R443G			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	443					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCAGATGCTGAGGGGGCAACC	0.652																																						uc003dzx.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6						c.(1327-1329)AGG>GGG		brother of CDO precursor							51.0	49.0	50.0					3																	112993314		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112993314A>G	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1327A>G	3.37:g.112993314A>G	ENSP00000418663:p.Arg443Gly					BOC_uc003dzy.2_Missense_Mutation_p.R443G|BOC_uc003dzz.2_Missense_Mutation_p.R443G|BOC_uc003eab.2_Missense_Mutation_p.R144G	p.R443G	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		9	1948	+			443			Extracellular (Potential).		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.1327A>G	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	A	5.785	0.329171	0.10956	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.60171	0.21;0.22;0.21	5.62	-0.331	0.12679	.	0.445817	0.22124	N	0.064287	T	0.41903	0.1179	L	0.54323	1.7	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13255	-1.0516	10	0.23302	T	0.38	.	3.3945	0.07300	0.4612:0.2976:0.0652:0.1761	.	443;443	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	G	443	ENSP00000418663:R443G;ENSP00000273395:R443G;ENSP00000347546:R443G	ENSP00000273395:R443G	R	+	1	2	BOC	114476004	0.867000	0.29959	0.829000	0.32907	0.104000	0.19210	0.138000	0.16016	0.381000	0.24851	0.460000	0.39030	AGG		0.652	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		36	36	0	0	0	0	36	36				
PLK4	10733	broad.mit.edu	37	4	128812740	128812740	+	Missense_Mutation	SNP	A	A	G	rs11552117		TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr4:128812740A>G	ENST00000270861.5	+	9	2216	c.1942A>G	c.(1942-1944)Att>Gtt	p.I648V	RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000514379.1_Missense_Mutation_p.I607V|PLK4_ENST00000513090.1_Missense_Mutation_p.I616V|PLK4_ENST00000515069.1_Missense_Mutation_p.I570V|PLK4_ENST00000507249.1_Missense_Mutation_p.I587V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	648					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GCAGATCACTATTTATTATCC	0.338																																					Colon(135;508 1718 19061 31832 42879)	uc003ifo.2		NA																	0					0						c.(1942-1944)ATT>GTT		polo-like kinase 4							72.0	79.0	77.0					4																	128812740		2202	4300	6502	SO:0001583	missense	10733				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128812740A>G	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.1942A>G	4.37:g.128812740A>G	ENSP00000270861:p.Ile648Val					PLK4_uc011cgs.1_Missense_Mutation_p.I616V|PLK4_uc011cgt.1_Missense_Mutation_p.I607V	p.I648V	NM_014264	NP_055079	O00444	PLK4_HUMAN			9	2187	+			648					B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.1942A>G	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.971764	0.00457	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.07	-0.368	0.12537	.	0.273561	0.36167	N	0.002742	T	0.12390	0.0301	N	0.10972	0.075	0.23010	N	0.998431	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.002	T	0.34378	-0.9831	10	0.09084	T	0.74	-1.3375	9.2667	0.37645	0.3418:0.0:0.6582:0.0	.	616;648	O00444-2;O00444	.;PLK4_HUMAN	V	648;570;616;587;607	ENSP00000270861:I648V;ENSP00000421774:I570V;ENSP00000427554:I616V;ENSP00000423412:I587V;ENSP00000423582:I607V	ENSP00000270861:I648V	I	+	1	0	PLK4	129032190	0.982000	0.34865	0.992000	0.48379	0.080000	0.17528	0.628000	0.24522	-0.030000	0.13804	-0.456000	0.05471	ATT		0.338	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			53	97	0	0	0	0	53	97				
AFF4	27125	broad.mit.edu	37	5	132269985	132269985	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr5:132269985G>A	ENST00000265343.5	-	3	1151	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.R258W	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	258	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R258W(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCATGGGCCGCACATAGGCA	0.517																																					Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2		NA																	1	Substitution - Missense(1)		breast(1)	ovary(2)|kidney(2)|skin(1)	5						c.(772-774)CGG>TGG		ALL1 fused gene from 5q31							165.0	149.0	155.0					5																	132269985		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132269985G>A	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.772C>T	5.37:g.132269985G>A	ENSP00000265343:p.Arg258Trp					AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Missense_Mutation_p.R258W|AFF4_uc003kyf.3_Missense_Mutation_p.R258W	p.R258W	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	1180	-		all_cancers(142;0.145)|Breast(839;0.198)	258			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.772C>T	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682751	0.68157	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.78816	-1.21;-1.21	5.35	4.39	0.52855	.	0.000000	0.85682	D	0.000000	D	0.87269	0.6135	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.996	D	0.88302	0.2950	10	0.87932	D	0	-7.5468	10.7873	0.46413	0.0:0.0:0.5738:0.4262	.	258;258;258	Q9UHB7-3;Q9UHB7-2;Q9UHB7	.;.;AFF4_HUMAN	W	258	ENSP00000265343:R258W;ENSP00000367858:R258W	ENSP00000265343:R258W	R	-	1	2	AFF4	132297884	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.342000	0.52159	2.509000	0.84616	0.557000	0.71058	CGG		0.517	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		4	95	0	0	0	0	4	95				
PCDHB8	56128	broad.mit.edu	37	5	140559714	140559714	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr5:140559714C>T	ENST00000239444.2	+	1	2344	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	700					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGTCTTCGCTCTTCCTC	0.672																																						uc011dai.1		NA																	0				skin(4)	4						c.(2098-2100)TCG>TTG		protocadherin beta 8 precursor							97.0	94.0	95.0					5																	140559714		2201	4297	6498	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559714C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2099C>T	5.37:g.140559714C>T	ENSP00000239444:p.Ser700Leu					PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.S700L	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2285	+			700			Helical; (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.2099C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	2.726	-0.265440	0.05754	.	.	ENSG00000120322	ENST00000239444	T	0.12984	2.63	4.22	1.99	0.26369	.	.	.	.	.	T	0.14313	0.0346	M	0.72624	2.21	0.09310	N	1	B	0.27559	0.181	B	0.26969	0.075	T	0.23048	-1.0199	9	0.34782	T	0.22	.	4.4498	0.11614	0.0:0.4236:0.0:0.5764	.	700	Q9UN66	PCDB8_HUMAN	L	700	ENSP00000239444:S700L	ENSP00000239444:S700L	S	+	2	0	PCDHB8	140539898	0.000000	0.05858	0.768000	0.31515	0.040000	0.13550	0.164000	0.16542	0.746000	0.32786	0.298000	0.19748	TCG		0.672	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		134	38	0	0	0	0	134	38				
NT5E	4907	broad.mit.edu	37	6	86197162	86197162	+	Silent	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr6:86197162C>T	ENST00000257770.3	+	5	1108	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	NT5E_ENST00000369651.3_Silent_p.C353C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	353					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	CTCAATCATGCCGCTTTAGAG	0.413																																					Melanoma(140;797 1765 2035 2752 18208)	uc003pko.3		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1057-1059)TGC>TGT		5' nucleotidase, ecto precursor	Pentoxifylline(DB00806)						163.0	155.0	158.0					6																	86197162		2203	4300	6503	SO:0001819	synonymous_variant	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86197162C>T	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1059C>T	6.37:g.86197162C>T						NT5E_uc010kbr.2_Silent_p.C353C	p.C353C	NM_002526	NP_002517	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	5	1615	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	353					B3KQI8|O75520|Q5W116	Silent	SNP	ENST00000257770.3	37	c.1059C>T	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	C	4.556	0.103180	0.08731	.	.	ENSG00000135318	ENST00000416334;ENST00000437581	.	.	.	5.48	4.61	0.57282	.	.	.	.	.	T	0.60183	0.2249	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61451	-0.7060	4	.	.	.	-11.8388	14.096	0.65021	0.0:0.9277:0.0:0.0723	.	.	.	.	V	118;49	.	.	A	+	2	0	NT5E	86253881	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	2.258000	0.43249	1.318000	0.45170	0.557000	0.71058	GCC		0.413	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			5	185	0	0	0	0	5	185				
SP8	221833	broad.mit.edu	37	7	20825289	20825289	+	Silent	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr7:20825289G>A	ENST00000361443.4	-	3	330	c.93C>T	c.(91-93)caC>caT	p.H31H	SP8_ENST00000418710.2_Silent_p.H49H	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	31	Ser-rich.				dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GTTTCCAGGGGTGGAAGCCTT	0.617																																						uc003suy.2		NA																	0				pancreas(1)	1						c.(91-93)CAC>CAT		Sp8 transcription factor isoform 2							50.0	51.0	51.0					7																	20825289		2203	4300	6503	SO:0001819	synonymous_variant	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20825289G>A		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.93C>T	7.37:g.20825289G>A						SP8_uc003suz.2_Silent_p.H49H	p.H31H	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN			3	334	-			31			Ser-rich.		Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	ENST00000361443.4	37	c.93C>T	CCDS5372.1																																																																																				0.617	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			21	42	0	0	0	0	21	42				
ABCB4	5244	broad.mit.edu	37	7	87051469	87051469	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr7:87051469C>T	ENST00000265723.4	-	18	2395	c.2284G>A	c.(2284-2286)Gga>Aga	p.G762R	ABCB4_ENST00000358400.3_Missense_Mutation_p.G762R|ABCB4_ENST00000359206.3_Missense_Mutation_p.G762R|ABCB4_ENST00000545634.1_Missense_Mutation_p.G762R|ABCB4_ENST00000453593.1_Missense_Mutation_p.G762R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	762	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		G -> E (in ICP3). {ECO:0000269|PubMed:15077010}.		cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GAAATAATTCCCAGAAATAAG	0.318																																						uc003uiv.1		NA																	0				ovary(4)|skin(1)|pancreas(1)	6	GRCh37	CM075953	ABCB4	M		c.(2284-2286)GGA>AGA		ATP-binding cassette, subfamily B, member 4							47.0	49.0	48.0					7																	87051469		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87051469C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2284G>A	7.37:g.87051469C>T	ENSP00000265723:p.Gly762Arg					ABCB4_uc003uiw.1_Missense_Mutation_p.G762R|ABCB4_uc003uix.1_Missense_Mutation_p.G762R	p.G762R	NM_018849	NP_061337	P21439	MDR3_HUMAN			18	2360	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		762		G -> E (in ICP).	Helical; (By similarity).|ABC transmembrane type-1 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.2284G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837133	0.91117	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73	5.99	5.99	0.97316	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.102794	0.64402	D	0.000003	D	0.97096	0.9051	H	0.95850	3.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.997	D	0.97794	1.0240	10	0.87932	D	0	-15.6568	18.2507	0.90002	0.0:1.0:0.0:0.0	.	762;762;762	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	R	762	ENSP00000352135:G762R;ENSP00000351172:G762R;ENSP00000265723:G762R;ENSP00000392983:G762R;ENSP00000437465:G762R	ENSP00000265723:G762R	G	-	1	0	ABCB4	86889405	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.242000	0.65389	2.840000	0.97914	0.655000	0.94253	GGA		0.318	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		3	15	0	0	0	0	3	15				
ZNF282	8427	broad.mit.edu	37	7	148909533	148909533	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr7:148909533G>A	ENST00000262085.3	+	6	1141	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	ZNF282_ENST00000479907.1_Missense_Mutation_p.D346N	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	346					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GGATTTGGCAGACAGAGATAT	0.453																																						uc003wfm.2		NA																	0					0						c.(1036-1038)GAC>AAC		zinc finger protein 282							79.0	68.0	72.0					7																	148909533		2203	4300	6503	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148909533G>A	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1036G>A	7.37:g.148909533G>A	ENSP00000262085:p.Asp346Asn					ZNF282_uc011kun.1_Missense_Mutation_p.D346N|ZNF282_uc003wfn.2_Missense_Mutation_p.D286N|ZNF282_uc003wfo.2_Intron	p.D346N	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	6	1141	+	Melanoma(164;0.15)		346					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.1036G>A	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671402	0.67814	.	.	ENSG00000170265	ENST00000262085;ENST00000479907	T;T	0.06449	3.3;5.11	5.38	5.38	0.77491	.	0.246250	0.28538	N	0.014990	T	0.06962	0.0177	L	0.34521	1.04	0.27578	N	0.949668	B;B;B	0.19817	0.039;0.039;0.039	B;B;B	0.18871	0.015;0.023;0.023	T	0.15350	-1.0440	10	0.42905	T	0.14	-18.9578	14.655	0.68825	0.0:0.0:1.0:0.0	.	346;318;346	B4DRI5;Q7Z2V4;Q9UDV7	.;.;ZN282_HUMAN	N	346	ENSP00000262085:D346N;ENSP00000418840:D346N	ENSP00000262085:D346N	D	+	1	0	ZNF282	148540466	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	3.829000	0.55760	2.529000	0.85273	0.655000	0.94253	GAC		0.453	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		3	31	0	0	0	0	3	31				
DPY19L4	286148	broad.mit.edu	37	8	95802031	95802031	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr8:95802031G>A	ENST00000414645.2	+	19	2164	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K	KB-1608C10.2_ENST00000510185.2_RNA|KB-1608C10.2_ENST00000521706.1_RNA	NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	689						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATTTTGTCATGAGGTCAAAAT	0.303																																						uc003ygx.2		NA																	0				ovary(2)	2						c.(2065-2067)GAG>AAG		dpy-19-like 4							92.0	102.0	99.0					8																	95802031		2203	4298	6501	SO:0001583	missense	286148					integral to membrane		g.chr8:95802031G>A		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.2065G>A	8.37:g.95802031G>A	ENSP00000389630:p.Glu689Lys						p.E689K	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN			19	2189	+	Breast(36;3.85e-06)		689					Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	c.2065G>A	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306467	0.95629	.	.	ENSG00000156162	ENST00000414645	T	0.56275	0.47	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.70701	0.3254	M	0.71036	2.16	0.58432	D	0.999999	D	0.71674	0.998	D	0.79108	0.992	T	0.65224	-0.6220	10	0.17832	T	0.49	-14.6975	19.1027	0.93281	0.0:0.0:1.0:0.0	.	689	Q7Z388	D19L4_HUMAN	K	689	ENSP00000389630:E689K	ENSP00000389630:E689K	E	+	1	0	DPY19L4	95871207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.781000	0.91805	2.563000	0.86464	0.563000	0.77884	GAG		0.303	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		98	188	0	0	0	0	98	188				
SECISBP2	79048	broad.mit.edu	37	9	91972404	91972404	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr9:91972404G>A	ENST00000375807.3	+	15	2263	c.2192G>A	c.(2191-2193)cGc>cAc	p.R731H	SECISBP2_ENST00000339901.4_Missense_Mutation_p.R658H|SECISBP2_ENST00000534113.2_Missense_Mutation_p.R663H	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	731					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GCTCTCAACCGCAAAGCTCTG	0.507																																						uc004aqj.1		NA																	0				ovary(2)|skin(1)	3						c.(2191-2193)CGC>CAC		SECIS binding protein 2							225.0	209.0	214.0					9																	91972404		2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91972404G>A	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2192G>A	9.37:g.91972404G>A	ENSP00000364965:p.Arg731His					SECISBP2_uc011ltk.1_Missense_Mutation_p.R730H|SECISBP2_uc004aqk.1_Missense_Mutation_p.R658H|SECISBP2_uc010mqo.1_Missense_Mutation_p.R436H|SECISBP2_uc011ltl.1_Missense_Mutation_p.R663H	p.R731H	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN			15	2272	+			731					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.2192G>A	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	34	5.309573	0.95629	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.78126	-1.15;-1.15;-1.15	4.68	4.68	0.58851	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	D	0.89684	0.6786	M	0.86864	2.845	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.91510	0.5226	10	0.87932	D	0	-12.5001	18.1344	0.89614	0.0:0.0:1.0:0.0	.	738;658;731	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	H	731;737;658;663	ENSP00000364965:R731H;ENSP00000364959:R658H;ENSP00000436650:R663H	ENSP00000364959:R658H	R	+	2	0	SECISBP2	91162224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.652000	0.98499	2.583000	0.87209	0.555000	0.69702	CGC		0.507	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		6	205	0	0	0	0	6	205				
ROR2	4920	broad.mit.edu	37	9	94519560	94519560	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr9:94519560G>A	ENST00000375708.3	-	3	655	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	ROR2_ENST00000375715.1_Missense_Mutation_p.R13W|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	153					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCACCCAGCCGCACAAACAGG	0.537																																						uc004arj.1		NA																	0				lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(457-459)CGG>TGG		receptor tyrosine kinase-like orphan receptor 2							93.0	85.0	88.0					9																	94519560		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94519560G>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.457C>T	9.37:g.94519560G>A	ENSP00000364860:p.Arg153Trp					ROR2_uc004ari.1_Missense_Mutation_p.R13W|ROR2_uc004ark.2_Missense_Mutation_p.R153W	p.R153W	NM_004560	NP_004551	Q01974	ROR2_HUMAN			3	656	-			153			Extracellular (Potential).		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.457C>T	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979760	0.74360	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.78816	-1.21;-0.69	4.98	2.86	0.33363	.	0.000000	0.40064	N	0.001192	T	0.80166	0.4573	L	0.29908	0.895	0.53688	D	0.999973	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.65684	0.821;0.913;0.937	T	0.82006	-0.0671	10	0.87932	D	0	.	14.4665	0.67488	0.0:0.0:0.7042:0.2958	.	153;153;13	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	W	13;153	ENSP00000364867:R13W;ENSP00000364860:R153W	ENSP00000364860:R153W	R	-	1	2	ROR2	93559381	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.587000	0.46128	0.740000	0.32651	0.655000	0.94253	CGG		0.537	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			4	123	0	0	0	0	4	123				
SUSD1	64420	broad.mit.edu	37	9	114886703	114886703	+	Silent	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr9:114886703G>A	ENST00000374270.3	-	6	892	c.720C>T	c.(718-720)ggC>ggT	p.G240G	SUSD1_ENST00000374264.2_Silent_p.G240G|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374263.3_Silent_p.G240G	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	240	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTGGAGGGTTGCCACAGTTGA	0.483																																						uc004bfu.2		NA																	0					0						c.(718-720)GGC>GGT		sushi domain containing 1 precursor							87.0	80.0	83.0					9																	114886703		2203	4300	6503	SO:0001819	synonymous_variant	64420					integral to membrane	calcium ion binding	g.chr9:114886703G>A	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.720C>T	9.37:g.114886703G>A						SUSD1_uc010mui.2_Silent_p.G240G|SUSD1_uc010muj.2_Silent_p.G240G	p.G240G	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN			6	761	-			240			Sushi 2.|Extracellular (Potential).		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Silent	SNP	ENST00000374270.3	37	c.720C>T	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.387|1.387	-0.581782|-0.581782	0.03854|0.03854	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000415074|ENST00000355396	.|.	.|.	.|.	5.96|5.96	3.02|3.02	0.34903|0.34903	.|.	.|.	.|.	.|.	.|.	T|.	0.54191|.	0.1843|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.47959|.	-0.9076|.	4|.	.|.	.|.	.|.	-21.7413|-21.7413	5.7351|5.7351	0.18061|0.18061	0.169:0.1595:0.6715:0.0|0.169:0.1595:0.6715:0.0	.|.	.|.	.|.	.|.	V|X	54|224	.|.	.|.	A|Q	-|-	2|1	0|0	SUSD1|SUSD1	113926524|113926524	0.389000|0.389000	0.25205|0.25205	0.728000|0.728000	0.30774|0.30774	0.114000|0.114000	0.19823|0.19823	0.474000|0.474000	0.22148|0.22148	0.861000|0.861000	0.35504|0.35504	-0.137000|-0.137000	0.14449|0.14449	GCA|CAA		0.483	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		76	39	0	0	0	0	76	39				
OR1N1	138883	broad.mit.edu	37	9	125288894	125288894	+	Nonsense_Mutation	SNP	G	G	A	rs563253378		TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr9:125288894G>A	ENST00000304880.2	-	1	678	c.679C>T	c.(679-681)Cga>Tga	p.R227*		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	227			R -> Q (in dbSNP:rs58226717).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R227*(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CCACGGGTTCGGACCCTCAGG	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22723	0.0		0.0	False		,,,				2504	0.0					uc004bmn.1		NA																	1	Substitution - Nonsense(1)		prostate(1)	upper_aerodigestive_tract(1)|breast(1)|skin(1)	3						c.(679-681)CGA>TGA		olfactory receptor, family 1, subfamily N,							85.0	72.0	77.0					9																	125288894		2203	4300	6503	SO:0001587	stop_gained	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125288894G>A	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.679C>T	9.37:g.125288894G>A	ENSP00000306974:p.Arg227*						p.R227*	NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN			1	679	-			227			Cytoplasmic (Potential).		A3KFM1|O43870|Q6IF16|Q96R93	Nonsense_Mutation	SNP	ENST00000304880.2	37	c.679C>T	CCDS6844.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523564	0.44866	.	.	ENSG00000171505	ENST00000304880	.	.	.	3.75	1.89	0.25635	.	0.293204	0.17403	U	0.175464	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.8798	0.13674	0.2031:0.1766:0.6203:0.0	.	.	.	.	X	227	.	ENSP00000306974:R227X	R	-	1	2	OR1N1	124328715	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.273000	0.08548	0.310000	0.22990	0.545000	0.68477	CGA		0.542	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			44	31	0	0	0	0	44	31				
SNAPC4	6621	broad.mit.edu	37	9	139273678	139273678	+	Silent	SNP	C	C	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr9:139273678C>A	ENST00000298532.2	-	21	2969	c.2601G>T	c.(2599-2601)gcG>gcT	p.A867A		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCCGGCTGGACGCCAGTCTTC	0.642																																						uc004chh.2		NA																	0					0						c.(2599-2601)GCG>GCT		small nuclear RNA activating complex,							15.0	21.0	19.0					9																	139273678		2180	4285	6465	SO:0001819	synonymous_variant	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139273678C>A	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2601G>T	9.37:g.139273678C>A							p.A867A	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	21	2610	-		Myeloproliferative disorder(178;0.0511)	867						Silent	SNP	ENST00000298532.2	37	c.2601G>T	CCDS6998.1																																																																																				0.642	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		6	30	1	0	8.13e-05	8.96e-05	6	30				
AMER1	139285	broad.mit.edu	37	X	63412939	63412939	+	Silent	SNP	T	T	C			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chrX:63412939T>C	ENST00000330258.3	-	2	500	c.228A>G	c.(226-228)ggA>ggG	p.G76G	AMER1_ENST00000374869.3_Silent_p.G76G|AMER1_ENST00000403336.1_Silent_p.G76G	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	76					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)									CTTTGCTCCGTCCCCCTCCAA	0.537																																						uc004dvo.2		NA																	67	Whole gene deletion(67)	p.0?(40)	kidney(65)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(226-228)GGA>GGG		family with sequence similarity 123B							129.0	102.0	111.0					X																	63412939		2203	4300	6503	SO:0001819	synonymous_variant	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63412939T>C	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.228A>G	X.37:g.63412939T>C							p.G76G	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	501	-			76					A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	c.228A>G	CCDS14377.2																																																																																				0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		3	74	0	0	0	0	3	74				
RLTPR	146206	broad.mit.edu	37	16	67680147	67680148	+	In_Frame_Ins	INS	-	-	CCTGGA			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr16:67680147_67680148insCCTGGA	ENST00000334583.6	+	5	636_637	c.308_309insCCTGGA	c.(307-312)gccctg>gcCCTGGAcctg	p.104_105insDL	RLTPR_ENST00000545661.1_In_Frame_Ins_p.104_105insDL	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	104					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGTGTGGCCGCCCTGGAACAGC	0.639																																						uc002etn.2		NA																	0				breast(1)	1						c.(307-309)GCC>GCCCTGGAC		RGD motif, leucine rich repeats, tropomodulin																																				SO:0001652	inframe_insertion	146206							g.chr16:67680147_67680148insCCTGGA	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.309_314dupCCTGGA	16.37:g.67680148_67680153dupCCTGGA	ENSP00000334958:p.Leu104_Glu105insAspLeu					RLTPR_uc010cel.1_In_Frame_Ins_p.103_104insLD|RLTPR_uc010vjr.1_In_Frame_Ins_p.103_104insLD	p.103_104insLD	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	5	428_429	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	103_104			LRR 2.		B8X2Z3	In_Frame_Ins	INS	ENST00000334583.6	37	c.308_309insCCTGGA	CCDS45513.1																																																																																				0.639	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		15	61	NA	NA	NA	NA	15	61	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577594	7577595	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr17:7577594_7577595delAC	ENST00000269305.4	-	7	875_876	c.686_687delGT	c.(685-687)tgtfs	p.C229fs	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Frame_Shift_Del_p.C229fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.C229fs	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	229	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C229fs*10(14)|p.0?(8)|p.?(5)|p.C229fs*1(4)|p.C229*(3)|p.C229F(3)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.C136fs*1(1)|p.C229S(1)|p.C136F(1)|p.T230fs*9(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.C136fs*10(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)	GGATGGTGGTACAGTCAGAGCC	0.53		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)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		52	Deletion - Frameshift(18)|Whole gene deletion(8)|Substitution - Missense(7)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Substitution - Nonsense(3)|Insertion - In frame(1)|Complex - frameshift(1)|Substitution - coding silent(1)	p.C229fs*10(10)|p.0?(7)|p.C229*(3)|p.C229S(2)|p.C229R(2)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.T230fs*9(1)|p.C229fs*1(1)|p.C229fs*18(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229G(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)	biliary_tract(14)|ovary(9)|breast(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|oesophagus(3)|central_nervous_system(2)|large_intestine(2)|urinary_tract(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|thymus(1)|skin(1)|pancreas(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CD076915	TP53	D		c.(685-687)TGTfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577594_7577595delAC	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.686_687delGT	17.37:g.7577594_7577595delAC	ENSP00000269305:p.Cys229fs	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)				TP53_uc002gig.1_Frame_Shift_Del_p.C229fs|TP53_uc002gih.2_Frame_Shift_Del_p.C229fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.C97fs|TP53_uc010cng.1_Frame_Shift_Del_p.C97fs|TP53_uc002gii.1_Frame_Shift_Del_p.C97fs|TP53_uc010cnh.1_Frame_Shift_Del_p.C229fs|TP53_uc010cni.1_Frame_Shift_Del_p.C229fs|TP53_uc002gij.2_Frame_Shift_Del_p.C229fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.C136fs|TP53_uc002gio.2_Frame_Shift_Del_p.C97fs	p.C229fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	880_881	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	229		C -> Y (in sporadic cancers; somatic mutation).|C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.686_687delGT	CCDS11118.1																																																																																				0.530	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	71	NA	NA	NA	NA	33	71	---	---	---	---
SSB	6741	broad.mit.edu	37	2	170665008	170665008	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr2:170665008delA	ENST00000409333.1	+	7	818	c.571delA	c.(571-573)aaafs	p.K192fs	SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	192					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTACTTTGCCAAAAAAAATGA	0.323																																						uc002ufk.2		NA																	0				skin(3)|pancreas(1)	4						c.(571-573)AAAfs		autoantigen La							82.0	82.0	82.0					2																	170665008		2203	4300	6503	SO:0001589	frameshift_variant	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170665008delA		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.571delA	2.37:g.170665008delA	ENSP00000386636:p.Lys192fs					SSB_uc002ufl.2_Frame_Shift_Del_p.K191fs|SSB_uc002ufm.2_Frame_Shift_Del_p.K191fs	p.K191fs	NM_003142	NP_003133	P05455	LA_HUMAN			7	678	+			191					Q15367|Q53XJ4	Frame_Shift_Del	DEL	ENST00000409333.1	37	c.571delA	CCDS2237.1																																																																																				0.323	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		7	118	NA	NA	NA	NA	7	118	---	---	---	---
DRICH1	51233	broad.mit.edu	37	22	23959767	23959769	+	In_Frame_Del	DEL	CAT	CAT	-	rs199862187|rs567906771	byFrequency	TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr22:23959767_23959769delCAT	ENST00000317749.5	-	7	809_811	c.512_514delATG	c.(511-516)gatgcc>gcc	p.D171del		NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		171	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTACCTGGGcatcatcatcatc	0.433														4	0.000798722	0.0	0.0029	5008	,	,		25110	0.001		0.0	False		,,,				2504	0.001					uc002zxf.2		NA																	0				skin(1)	1						c.(511-516)GATGCC>GCC		hypothetical protein LOC51233				38,3770		2,34,1868						-0.9	0.0			110	95,7919		9,77,3921	no	coding	C22orf43	NM_016449.3		11,111,5789	A1A1,A1R,RR		1.1854,0.9979,1.125				133,11689				SO:0001651	inframe_deletion	51233							g.chr22:23959767_23959769delCAT																												ENST00000317749.5:c.512_514delATG	22.37:g.23959776_23959778delCAT	ENSP00000316137:p.Asp171del						p.D171del	NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN			7	789_791	-			171			Asp-rich.		Q6ICJ8|Q6P4I3|Q9NU31	In_Frame_Del	DEL	ENST00000317749.5	37	c.512_514delATG	CCDS42985.1																																																																																				0.433	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			10	341	NA	NA	NA	NA	10	341	---	---	---	---
DNAJB11	51726	broad.mit.edu	37	3	186295532	186295534	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr3:186295532_186295534delTAT	ENST00000439351.1	+	5	1328_1330	c.399_401delTAT	c.(397-402)gatatt>gat	p.I135del	DNAJB11_ENST00000265028.3_In_Frame_Del_p.I135del			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	135					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)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GAGGAAGTGATATTATTGTAGAT	0.369																																						uc003fqi.2		NA																	0				ovary(1)|lung(1)	2						c.(397-402)GATATT>GAT		DnaJ (Hsp40) homolog, subfamily B, member 11																																				SO:0001651	inframe_deletion	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186295532_186295534delTAT	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.399_401delTAT	3.37:g.186295535_186295537delTAT	ENSP00000414398:p.Ile135del						p.I135del	NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	4	619_621	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		135					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	In_Frame_Del	DEL	ENST00000439351.1	37	c.399_401delTAT	CCDS3277.1																																																																																				0.369	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			20	64	NA	NA	NA	NA	20	64	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G	rs375659563		TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.e36-1		fibrocystin L precursor																																				SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110455173_110455174insG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4394-1->G	8.37:g.110455175_110455175dupG		HNSCC(38;0.096)					p.G1465_splice	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		36	4498	+								Q567P2|Q9UF27	Splice_Site	INS	ENST00000378402.5	37	c.4394_splice	CCDS47911.1																																																																																				0.322	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	9	193	NA	NA	NA	NA	9	193	---	---	---	---
