#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NDFIP2	54602	broad.mit.edu	37	13	80117788	80117788	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr13:80117788T>C	ENST00000218652.7	+	5	863	c.811T>C	c.(811-813)Tcc>Ccc	p.S271P		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	271					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		ATTTGGCCTTTCCTTGATCAA	0.378																																						ENST00000218652.7																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14						c.(811-813)Tcc>Ccc		Nedd4 family interacting protein 2							285.0	244.0	258.0					13																	80117788		2203	4300	6503	SO:0001583	missense	54602				negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding	g.chr13:80117788T>C	AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.811T>C	13.37:g.80117788T>C	ENSP00000218652:p.Ser271Pro						p.S271P	NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN		GBM - Glioblastoma multiforme(99;0.0196)	5	863	+		Acute lymphoblastic leukemia(28;0.205)	271					Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Missense_Mutation	SNP	ENST00000218652.7	37	c.811T>C	CCDS31998.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.827303	0.90955	.	.	ENSG00000102471	ENST00000218652;ENST00000487865	T;D	0.94793	0.75;-3.52	5.7	5.7	0.88788	.	0.124327	0.56097	D	0.000031	D	0.97099	0.9052	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97732	1.0203	10	0.87932	D	0	-17.477	15.9744	0.80049	0.0:0.0:0.0:1.0	.	157;271	B4DGY6;Q9NV92	.;NFIP2_HUMAN	P	271;168	ENSP00000218652:S271P;ENSP00000419200:S168P	ENSP00000218652:S271P	S	+	1	0	NDFIP2	79015789	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.588000	0.82629	2.165000	0.68154	0.528000	0.53228	TCC		0.378	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045380.2			62	52	0	0	0	1	0	62	52				
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33.0	42.0	39.0					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		3	55	0	0	0	1	0	3	55				
SLC12A1	6557	broad.mit.edu	37	15	48539642	48539642	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr15:48539642G>A	ENST00000558405.1	+	12	1683	c.1669G>A	c.(1669-1671)Gca>Aca	p.A557T	SLC12A1_ENST00000396577.3_Missense_Mutation_p.A557T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.A557T			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	557					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TATAGCCATGGCATTTATTCT	0.328																																						ENST00000396577.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(1669-1671)Gca>Aca		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						37.0	38.0	38.0					15																	48539642		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48539642G>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1669G>A	15.37:g.48539642G>A	ENSP00000453409:p.Ala557Thr					SLC12A1_ENST00000558405.1_Missense_Mutation_p.A557T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.A557T	p.A557T	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	13	1884	+		all_lung(180;0.00219)	557					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.1669G>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048000	0.93740	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	D;D	0.98835	-5.17;-5.17	5.33	5.33	0.75918	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98779	0.9589	M	0.69463	2.115	0.80722	D	1	B;P	0.42973	0.282;0.796	P;P	0.55965	0.513;0.788	D	0.99860	1.1082	10	0.87932	D	0	.	19.2116	0.93757	0.0:0.0:1.0:0.0	.	557;557	E9PDW4;Q13621	.;S12A1_HUMAN	T	370;557;557	ENSP00000370381:A557T;ENSP00000379822:A557T	ENSP00000370381:A557T	A	+	1	0	SLC12A1	46326934	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.652000	0.98499	2.766000	0.95052	0.655000	0.94253	GCA		0.328	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			14	8	0	0	0	1	0	14	8				
HS3ST1	9957	broad.mit.edu	37	4	11401181	11401181	+	Missense_Mutation	SNP	G	G	A	rs200959205		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr4:11401181G>A	ENST00000002596.5	-	2	1623	c.449C>T	c.(448-450)tCg>tTg	p.S150L		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	150					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CACGCGCTCCGACGGGTCTCG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18975	0.0		0.001	False		,,,				2504	0.0					ENST00000002596.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(448-450)tCg>tTg		heparan sulfate (glucosamine) 3-O-sulfotransferase 1		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	65.0	60.0	62.0		449	4.7	1.0	4		62	0,8600		0,0,4300	no	missense	HS3ST1	NM_005114.2	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	150/308	11401181	1,13005	2203	4300	6503	SO:0001583	missense	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401181G>A	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.449C>T	4.37:g.11401181G>A	ENSP00000002596:p.Ser150Leu						p.S150L	NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN			2	1623	-			150					B3KUA6|Q6PEY8	Missense_Mutation	SNP	ENST00000002596.5	37	c.449C>T	CCDS3408.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	22.0	4.234793	0.79800	2.27E-4	0.0	ENSG00000002587	ENST00000002596	D	0.81821	-1.54	5.61	4.72	0.59763	Sulfotransferase domain (1);	0.353745	0.27375	N	0.019649	T	0.75503	0.3858	N	0.20986	0.625	0.36245	D	0.853547	D	0.61697	0.99	P	0.54460	0.753	T	0.79193	-0.1904	10	0.56958	D	0.05	.	7.7333	0.28799	0.0919:0.2468:0.6614:0.0	.	150	O14792	HS3S1_HUMAN	L	150	ENSP00000002596:S150L	ENSP00000002596:S150L	S	-	2	0	HS3ST1	11010279	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.567000	0.53813	2.793000	0.96121	0.655000	0.94253	TCG		0.597	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		23	27	0	0	0	1	0	23	27				
ANKRD44	91526	broad.mit.edu	37	2	198051803	198051803	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:198051803C>T	ENST00000409153.1	-	2	237	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	ANKRD44_ENST00000282272.8_Missense_Mutation_p.G11S|ANKRD44_ENST00000409919.1_Missense_Mutation_p.G19S|ANKRD44_ENST00000450567.1_5'UTR|ANKRD44_ENST00000539527.1_5'UTR|ANKRD44_ENST00000328737.2_5'UTR			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	19										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCTGGATCACCGCTGAAGATT	0.443																																						ENST00000282272.8																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(31-33)Ggt>Agt		ankyrin repeat domain 44							155.0	154.0	154.0					2																	198051803		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:198051803C>T	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000409153.1:c.55G>A	2.37:g.198051803C>T	ENSP00000387141:p.Gly19Ser					ANKRD44_ENST00000409919.1_Missense_Mutation_p.G19S|ANKRD44_ENST00000539527.1_5'UTR|ANKRD44_ENST00000450567.1_5'UTR|ANKRD44_ENST00000409153.1_Missense_Mutation_p.G19S|ANKRD44_ENST00000328737.2_5'UTR	p.G11S	NM_001195144.1	NP_001182073.1	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		1	30	-			19					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000409153.1	37	c.31G>A		.	.	.	.	.	.	.	.	.	.	C	16.70	3.196192	0.58126	.	.	ENSG00000065413	ENST00000282272;ENST00000409153;ENST00000409919	T;T;T	0.40476	1.03;1.89;1.79	5.22	5.22	0.72569	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.65913	0.2737	M	0.77820	2.39	0.80722	D	1	P;D	0.89917	0.824;1.0	P;D	0.80764	0.627;0.994	T	0.68834	-0.5304	9	0.66056	D	0.02	.	16.3396	0.83078	0.0:1.0:0.0:0.0	.	19;19	Q8N8A2;Q8N8A2-3	ANR44_HUMAN;.	S	11;19;19	ENSP00000282272:G11S;ENSP00000387141:G19S;ENSP00000387233:G19S	ENSP00000282272:G11S	G	-	1	0	ANKRD44	197760048	0.999000	0.42202	0.381000	0.26106	0.088000	0.18126	5.896000	0.69822	2.708000	0.92522	0.650000	0.86243	GGT		0.443	ANKRD44-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335114.3	NM_153697		42	74	0	0	0	1	0	42	74				
CDC42BPB	9578	broad.mit.edu	37	14	103442111	103442111	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr14:103442111C>T	ENST00000361246.2	-	11	1705	c.1417G>A	c.(1417-1419)Ggc>Agc	p.G473S		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGAGATGAGCCGTGGAGGGAC	0.557																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(1417-1419)Ggc>Agc		CDC42 binding protein kinase beta (DMPK-like)							130.0	141.0	137.0					14																	103442111		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103442111C>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1417G>A	14.37:g.103442111C>T	ENSP00000355237:p.Gly473Ser						p.G473S	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	11	1705	-		Melanoma(154;0.155)	473						Missense_Mutation	SNP	ENST00000361246.2	37	c.1417G>A	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	8.590	0.884272	0.17467	.	.	ENSG00000198752	ENST00000361246	T	0.62941	-0.01	5.34	0.706	0.18133	.	0.303033	0.40385	N	0.001113	T	0.35393	0.0930	N	0.11927	0.2	0.40717	D	0.982625	B	0.02656	0.0	B	0.04013	0.001	T	0.16158	-1.0412	10	0.07813	T	0.8	.	9.9133	0.41419	0.0:0.6038:0.0:0.3962	.	473	Q9Y5S2	MRCKB_HUMAN	S	473	ENSP00000355237:G473S	ENSP00000355237:G473S	G	-	1	0	CDC42BPB	102511864	0.023000	0.18921	0.001000	0.08648	0.429000	0.31625	0.562000	0.23531	0.195000	0.20347	-0.145000	0.13849	GGC		0.557	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		36	121	0	0	0	1	0	36	121				
USP6NL	9712	broad.mit.edu	37	10	11531171	11531171	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr10:11531171C>T	ENST00000609104.1	-	10	988	c.594G>A	c.(592-594)atG>atA	p.M198I	USP6NL_ENST00000277575.5_Missense_Mutation_p.M215I|USP6NL_ENST00000379237.2_Missense_Mutation_p.M221I	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	198	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CGTTCATATACATGAGGAGTA	0.483																																						ENST00000379237.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(592-594)atG>atA		USP6 N-terminal like							88.0	90.0	89.0					10																	11531171		1918	4146	6064	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11531171C>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.594G>A	10.37:g.11531171C>T	ENSP00000476462:p.Met198Ile					USP6NL_ENST00000277575.5_Missense_Mutation_p.M215I	p.M198I	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			10	988	-			198			Rab-GAP TBC.		A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.594G>A	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200671	0.79015	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.03860	3.78;3.78	5.24	5.24	0.73138	Rab-GAP/TBC domain (4);	0.042306	0.85682	D	0.000000	T	0.09862	0.0242	L	0.43701	1.375	0.58432	D	0.999997	P;P	0.45126	0.756;0.851	P;P	0.46885	0.53;0.493	T	0.04693	-1.0933	10	0.46703	T	0.11	.	19.1829	0.93630	0.0:1.0:0.0:0.0	.	198;215	Q92738;Q92738-2	US6NL_HUMAN;.	I	198;215;198	ENSP00000277575:M215I;ENSP00000368539:M198I	ENSP00000277575:M215I	M	-	3	0	USP6NL	11571177	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.996000	0.57009	2.606000	0.88127	0.655000	0.94253	ATG		0.483	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		21	71	0	0	0	1	0	21	71				
ZFR	51663	broad.mit.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																						ENST00000265069.8																			1	Substitution - coding silent(1)	p.A294A(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(880-882)gcT>gcA		zinc finger RNA binding protein		A		0,4406		0,0,2203	35.0	36.0	36.0		882	-7.9	1.0	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407029A>T	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.882T>A	5.37:g.32407029A>T							p.A294A	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	984	-			294			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.882T>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			3	56	0	0	0	1	0	3	56				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	46	0	0	0	1	0	5	46				
POTEE	445582	broad.mit.edu	37	2	132021797	132021797	+	Silent	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:132021797C>T	ENST00000356920.5	+	15	2863	c.2769C>T	c.(2767-2769)ttC>ttT	p.F923F	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	923	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CCCTGGACTTCGAGCAGGAGA	0.597																																						ENST00000356920.5																			0											c.(2767-2769)ttC>ttT		POTE ankyrin domain family, member E							113.0	126.0	122.0					2																	132021797		2202	4295	6497	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:132021797C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2769C>T	2.37:g.132021797C>T						PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	p.F923F	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			15	2863	+			923			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.2769C>T	CCDS46414.1																																																																																				0.597	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		8	250	0	0	0	1	0	8	250				
UBR5	51366	broad.mit.edu	37	8	103269902	103269902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr8:103269902C>T	ENST00000520539.1	-	58	8751	c.8145G>A	c.(8143-8145)tgG>tgA	p.W2715*	UBR5_ENST00000521922.1_Nonsense_Mutation_p.W2708*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.W2714*|UBR5_ENST00000518205.1_Nonsense_Mutation_p.W443*|KB-431C1.5_ENST00000606361.1_RNA	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2715	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTACTATTGACCAGAACCAAC	0.328																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(8143-8145)tgG>tgA		ubiquitin protein ligase E3 component n-recognin 5							89.0	84.0	86.0					8																	103269902		2202	4300	6502	SO:0001587	stop_gained	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103269902C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8145G>A	8.37:g.103269902C>T	ENSP00000429084:p.Trp2715*					UBR5_ENST00000521922.1_Nonsense_Mutation_p.W2708*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.W2714*|KB-431C1.5_ENST00000606361.1_RNA|UBR5_ENST00000518205.1_Nonsense_Mutation_p.W443*	p.W2715*	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		58	8751	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2715			HECT.		B2RP24|J3KMW7|O94970|Q9NPL3	Nonsense_Mutation	SNP	ENST00000520539.1	37	c.8145G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	53	20.288976	0.99929	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3216	0.94243	0.0:1.0:0.0:0.0	.	.	.	.	X	2715;2714;443;2708	.	ENSP00000220959:W2714X	W	-	3	0	UBR5	103339078	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.578000	0.87016	0.585000	0.79938	TGG		0.328	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		8	109	0	0	0	1	0	8	109				
EFCAB5	374786	broad.mit.edu	37	17	28405524	28405524	+	Splice_Site	SNP	T	T	C			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:28405524T>C	ENST00000394835.3	+	15	3219		c.e15+2		EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Splice_Site	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5								calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTCATGCAGGTACGTTTCCTA	0.463																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.e15+2		EF-hand calcium binding domain 5							26.0	25.0	25.0					17																	28405524		1944	4133	6077	SO:0001630	splice_region_variant	374786						calcium ion binding	g.chr17:28405524T>C	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3027+2T>C	17.37:g.28405524T>C						EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Splice_Site		NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			15	3219	+								B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Splice_Site	SNP	ENST00000394835.3	37		CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	17.23	3.337098	0.60963	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2598	0.54645	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	EFCAB5	25429650	1.000000	0.71417	0.991000	0.47740	0.706000	0.40770	5.433000	0.66520	1.845000	0.53610	0.533000	0.62120	.		0.463	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529	Intron	12	7	0	0	0	1	0	12	7				
ABHD2	11057	broad.mit.edu	37	15	89736538	89736538	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr15:89736538A>G	ENST00000352732.5	+	10	1589	c.1069A>G	c.(1069-1071)Aaa>Gaa	p.K357E	ABHD2_ENST00000355100.3_Missense_Mutation_p.K357E|ABHD2_ENST00000565973.1_Missense_Mutation_p.K357E	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	357					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					AACCATTCCAAAATCTCTTTC	0.433																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(1069-1071)Aaa>Gaa		abhydrolase domain containing 2							215.0	172.0	187.0					15																	89736538		2200	4299	6499	SO:0001583	missense	11057					integral to membrane	carboxylesterase activity	g.chr15:89736538A>G	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.1069A>G	15.37:g.89736538A>G	ENSP00000268129:p.Lys357Glu					ABHD2_ENST00000355100.3_Missense_Mutation_p.K357E|ABHD2_ENST00000565973.1_Missense_Mutation_p.K357E	p.K357E	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN			10	1589	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		357					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	c.1069A>G	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.168921	0.78339	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.40756	1.02;1.02	5.33	5.33	0.75918	Alpha/beta hydrolase fold-1 (1);	0.098630	0.64402	D	0.000003	T	0.42040	0.1185	L	0.40543	1.245	0.44852	D	0.997862	B	0.26318	0.146	B	0.41946	0.371	T	0.16958	-1.0385	10	0.06365	T	0.9	-10.8604	15.6047	0.76658	1.0:0.0:0.0:0.0	.	357	P08910	ABHD2_HUMAN	E	357	ENSP00000268129:K357E;ENSP00000347217:K357E	ENSP00000268129:K357E	K	+	1	0	ABHD2	87537542	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	6.018000	0.70811	2.137000	0.66172	0.460000	0.39030	AAA		0.433	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			29	42	0	0	0	1	0	29	42				
CNOT1	23019	broad.mit.edu	37	16	58587700	58587700	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr16:58587700G>T	ENST00000317147.5	-	22	3288	c.2956C>A	c.(2956-2958)Cat>Aat	p.H986N	CNOT1_ENST00000441024.2_Missense_Mutation_p.H986N|CNOT1_ENST00000569240.1_Missense_Mutation_p.H981N|CNOT1_ENST00000245138.4_5'Flank|CNOT1_ENST00000569732.1_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	986	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTAAATGATGTGGAAATTGC	0.358																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(2956-2958)Cat>Aat		CCR4-NOT transcription complex, subunit 1							122.0	120.0	121.0					16																	58587700		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58587700G>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2956C>A	16.37:g.58587700G>T	ENSP00000320949:p.His986Asn					CNOT1_ENST00000569732.1_Intron|CNOT1_ENST00000569240.1_Missense_Mutation_p.H981N|CNOT1_ENST00000441024.2_Missense_Mutation_p.H986N	p.H986N	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	22	3288	-			986					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.2956C>A	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913936	0.52439	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.41758	1.01;0.99	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	N	0.03608	-0.345	0.80722	D	1	P;B;B	0.48294	0.908;0.086;0.011	D;B;B	0.64144	0.922;0.045;0.025	T	0.52779	-0.8530	10	0.34782	T	0.22	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	986;986;981	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	N	986;415;981;986	ENSP00000320949:H986N;ENSP00000413113:H986N	ENSP00000320949:H986N	H	-	1	0	CNOT1	57145201	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	CAT		0.358	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		25	35	1	0	1.42536e-11	1	1.45127e-11	25	35				
RYR2	6262	broad.mit.edu	37	1	237777667	237777667	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr1:237777667G>A	ENST00000366574.2	+	37	5556	c.5239G>A	c.(5239-5241)Ggc>Agc	p.G1747S	RYR2_ENST00000360064.6_Missense_Mutation_p.G1745S|RYR2_ENST00000542537.1_Missense_Mutation_p.G1731S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1747	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAAAAAACACGGCCTTCCAGG	0.517																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5239-5241)Ggc>Agc		ryanodine receptor 2 (cardiac)							66.0	66.0	66.0					1																	237777667		2042	4192	6234	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777667G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5239G>A	1.37:g.237777667G>A	ENSP00000355533:p.Gly1747Ser					RYR2_ENST00000542537.1_Missense_Mutation_p.G1731S|RYR2_ENST00000360064.6_Missense_Mutation_p.G1745S	p.G1747S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5556	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1747			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5239G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123204	0.37436	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73789	-0.78;-0.78;-0.78	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000008	T	0.63861	0.2547	N	0.11698	0.16	0.80722	D	1	D	0.63046	0.992	P	0.46940	0.532	T	0.62576	-0.6825	10	0.18276	T	0.48	.	19.2592	0.93961	0.0:0.0:1.0:0.0	.	1747	Q92736	RYR2_HUMAN	S	1747;1745;1731	ENSP00000355533:G1747S;ENSP00000353174:G1745S;ENSP00000443798:G1731S	ENSP00000353174:G1745S	G	+	1	0	RYR2	235844290	1.000000	0.71417	0.994000	0.49952	0.787000	0.44495	5.481000	0.66826	2.563000	0.86464	0.650000	0.86243	GGC		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	13	0	0	0	1	0	9	13				
WNT16	51384	broad.mit.edu	37	7	120979236	120979236	+	Missense_Mutation	SNP	G	G	A	rs554766007		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr7:120979236G>A	ENST00000222462.2	+	4	1225	c.935G>A	c.(934-936)cGt>cAt	p.R312H	WNT16_ENST00000361301.2_Missense_Mutation_p.R302H	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	312					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GAATGCAACCGTACATCAGAG	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		22223	0.0		0.0	False		,,,				2504	0.001					ENST00000222462.2																			0				breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18						c.(934-936)cGt>cAt		wingless-type MMTV integration site family, member 16							132.0	112.0	119.0					7																	120979236		2203	4300	6503	SO:0001583	missense	51384				anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr7:120979236G>A	AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.935G>A	7.37:g.120979236G>A	ENSP00000222462:p.Arg312His					WNT16_ENST00000361301.2_Missense_Mutation_p.R302H	p.R312H	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN			4	1225	+	all_neural(327;0.117)		312					Q2M3G1|Q9Y5C0	Missense_Mutation	SNP	ENST00000222462.2	37	c.935G>A	CCDS5781.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079532	0.94050	.	.	ENSG00000002745	ENST00000361301;ENST00000222462	T;T	0.76709	-1.04;-1.04	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82669	0.5087	M	0.71920	2.185	0.80722	D	1	D;D	0.60160	0.987;0.982	P;P	0.48400	0.495;0.576	D	0.83909	0.0294	10	0.56958	D	0.05	.	20.0762	0.97745	0.0:0.0:1.0:0.0	.	312;302	Q9UBV4;E9PH60	WNT16_HUMAN;.	H	302;312	ENSP00000355065:R302H;ENSP00000222462:R312H	ENSP00000222462:R312H	R	+	2	0	WNT16	120766472	1.000000	0.71417	0.969000	0.41365	0.983000	0.72400	8.022000	0.88759	2.756000	0.94617	0.655000	0.94253	CGT		0.493	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168		19	27	0	0	0	1	0	19	27				
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs59641550		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	59								p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562																																						ENST00000362097.1																			8	Substitution - Missense(8)	p.Q59E(8)	endometrium(8)	endometrium(4)	4						c.(175-177)Cag>Gag		G antigen 2A																																				SO:0001583	missense	729447							g.chrX:49355893C>G	U19143	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064			4099	protein-coding gene	gene with protein product	"""cancer/testis antigen family 4, member 2"""	300720	"""G antigen 2"""	GAGE2		7544395	Standard	NM_001127212		Approved	CT4.2		Q6NT46	OTTHUMG00000024143	ENST00000362097.1:c.175C>G	X.37:g.49355893C>G	ENSP00000355421:p.Gln59Glu						p.Q59E	NM_001127212.1	NP_001120684.1					3	258	+	Ovarian(276;0.236)								Missense_Mutation	SNP	ENST00000362097.1	37	c.175C>G	CCDS48114.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.861266	0.00064	.	.	ENSG00000189064	ENST00000362097	T	0.05447	3.44	0.869	-1.69	0.08186	.	.	.	.	.	T	0.00815	0.0027	N	0.00035	-2.545	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	8	0.02654	T	1	.	3.0546	0.06180	0.33:0.2512:0.4188:0.0	.	59	Q6NT46	GAG2A_HUMAN	E	59	ENSP00000355421:Q59E	ENSP00000355421:Q59E	Q	+	1	0	GAGE2A	49242837	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.119000	0.03276	-1.599000	0.01605	-0.870000	0.02990	CAG		0.562	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3			5	485	0	0	0	1	0	5	485				
ATP13A1	57130	broad.mit.edu	37	19	19770501	19770501	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr19:19770501C>T	ENST00000357324.6	-	3	612	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	ATP13A1_ENST00000291503.5_Missense_Mutation_p.V78M	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	196						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCGTTTCCCACAGGAAAGGCC	0.517																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(586-588)Gtg>Atg		ATPase type 13A1							63.0	64.0	64.0					19																	19770501		2203	4300	6503	SO:0001583	missense	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19770501C>T	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.586G>A	19.37:g.19770501C>T	ENSP00000349877:p.Val196Met					ATP13A1_ENST00000291503.5_Missense_Mutation_p.V78M	p.V196M	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN			3	612	-			196					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	c.586G>A	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905696	0.52333	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.82255	-1.57;-1.59	4.55	4.55	0.56014	.	0.131175	0.53938	D	0.000054	T	0.80048	0.4552	M	0.67625	2.065	0.38579	D	0.950132	P;P	0.42620	0.69;0.785	B;B	0.40901	0.343;0.247	T	0.80400	-0.1398	10	0.33141	T	0.24	-21.0066	10.1465	0.42767	0.1996:0.8004:0.0:0.0	.	196;78	Q9HD20;Q9HD20-2	AT131_HUMAN;.	M	78;196	ENSP00000291503:V78M;ENSP00000349877:V196M	ENSP00000291503:V78M	V	-	1	0	ATP13A1	19631501	0.995000	0.38212	0.393000	0.26258	0.877000	0.50540	3.099000	0.50267	2.086000	0.62901	0.655000	0.94253	GTG		0.517	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		11	27	0	0	0	1	0	11	27				
UBC	7316	broad.mit.edu	37	12	125397652	125397652	+	Silent	SNP	T	T	C	rs533073686	byFrequency	TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000546120.1_Silent_p.V146V|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													-|||	5	0.000998403	0.0	0.0	5008	,	,		27834	0.004		0.0	False		,,,				2504	0.001					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(664-666)gtA>gtG		ubiquitin C							228.0	202.0	211.0					12																	125397652		2203	4299	6502	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397652T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.666A>G	12.37:g.125397652T>C						UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.V222V	p.V222V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2242	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.666A>G	CCDS9260.1																																																																																				0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		4	167	0	0	0	1	0	4	167				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			35	58	0	0	0	1	0	35	58				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (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.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	2	0	0	0	1	0	20	2				
CCDC148	130940	broad.mit.edu	37	2	159166120	159166120	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:159166120C>T	ENST00000283233.5	-	9	1248	c.935G>A	c.(934-936)cGc>cAc	p.R312H	CCDC148_ENST00000409187.1_Missense_Mutation_p.R321H|CCDC148_ENST00000536771.1_Missense_Mutation_p.R226H	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	312										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TATAGCAAAGCGATATTGGTC	0.348																																						ENST00000283233.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(934-936)cGc>cAc		coiled-coil domain containing 148							88.0	89.0	89.0					2																	159166120		2201	4300	6501	SO:0001583	missense	130940							g.chr2:159166120C>T		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.935G>A	2.37:g.159166120C>T	ENSP00000283233:p.Arg312His					CCDC148_ENST00000536771.1_Missense_Mutation_p.R226H|CCDC148_ENST00000409187.1_Missense_Mutation_p.R321H	p.R312H	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN			9	1248	-			312					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	c.935G>A	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864656	0.32977	.	.	ENSG00000153237	ENST00000283233;ENST00000375617;ENST00000409187;ENST00000536771	T;T;T	0.34072	1.7;1.7;1.38	5.95	1.45	0.22620	.	.	.	.	.	T	0.19967	0.0480	N	0.16233	0.39	0.26387	N	0.976644	B;B;B;B;B	0.10296	0.003;0.001;0.003;0.001;0.001	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.001	T	0.26643	-1.0097	9	0.22109	T	0.4	0.0086	7.7086	0.28665	0.0:0.4618:0.0:0.5382	.	226;160;160;321;312	F5H839;C9JR76;Q8NFR7-2;B8ZZV3;Q8NFR7	.;.;.;.;CC148_HUMAN	H	312;160;321;226	ENSP00000283233:R312H;ENSP00000386674:R321H;ENSP00000443740:R226H	ENSP00000283233:R312H	R	-	2	0	CCDC148	158874366	0.872000	0.30054	0.994000	0.49952	0.908000	0.53690	-0.010000	0.12743	-0.049000	0.13379	-0.137000	0.14449	CGC		0.348	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		4	69	0	0	0	1	0	4	69				
PDE4D	5144	broad.mit.edu	37	5	58272256	58272256	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr5:58272256T>C	ENST00000340635.6	-	13	1926	c.1751A>G	c.(1750-1752)gAt>gGt	p.D584G	PDE4D_ENST00000358923.6_Missense_Mutation_p.D282G|PDE4D_ENST00000502484.2_Missense_Mutation_p.D523G|PDE4D_ENST00000360047.5_Missense_Mutation_p.D448G|PDE4D_ENST00000546160.1_Missense_Mutation_p.D523G|PDE4D_ENST00000405755.2_Missense_Mutation_p.D462G|PDE4D_ENST00000317118.8_Missense_Mutation_p.D293G|PDE4D_ENST00000507116.1_Missense_Mutation_p.D520G|PDE4D_ENST00000503258.1_Missense_Mutation_p.D454G	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	584					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AGTCTTCAAATCAGCCAGTAG	0.323																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(1750-1752)gAt>gGt		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						123.0	114.0	117.0					5																	58272256		1844	4095	5939	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58272256T>C		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1751A>G	5.37:g.58272256T>C	ENSP00000345502:p.Asp584Gly					PDE4D_ENST00000503258.1_Missense_Mutation_p.D454G|PDE4D_ENST00000317118.8_Missense_Mutation_p.D293G|PDE4D_ENST00000502484.2_Missense_Mutation_p.D523G|PDE4D_ENST00000546160.1_Missense_Mutation_p.D523G|PDE4D_ENST00000360047.5_Missense_Mutation_p.D448G|PDE4D_ENST00000358923.6_Missense_Mutation_p.D282G|PDE4D_ENST00000405755.2_Missense_Mutation_p.D462G|PDE4D_ENST00000507116.1_Missense_Mutation_p.D520G	p.D584G	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	13	1926	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	584					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.1751A>G	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349464	0.82132	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	4.65	4.65	0.58169	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.84991	0.5595	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;P;P	0.89917	0.985;0.988;0.985;1.0;1.0;0.985;0.456;0.794	D;D;D;D;D;D;B;B	0.91635	0.977;0.987;0.966;0.999;0.999;0.977;0.374;0.254	D	0.87671	0.2541	10	0.72032	D	0.01	.	14.5305	0.67923	0.0:0.0:0.0:1.0	.	523;584;520;447;462;454;359;293	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	G	584;453;448;520;282;293;454;462;523;523;282	ENSP00000345502:D584G;ENSP00000353152:D448G;ENSP00000424852:D520G;ENSP00000351800:D282G;ENSP00000321739:D293G;ENSP00000425605:D454G;ENSP00000384806:D462G;ENSP00000423094:D523G;ENSP00000442734:D523G;ENSP00000421013:D282G	ENSP00000321739:D293G	D	-	2	0	PDE4D	58308013	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.825000	0.86693	2.085000	0.62840	0.533000	0.62120	GAT		0.323	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			6	7	0	0	0	1	0	6	7				
RNF43	54894	broad.mit.edu	37	17	56439937	56439937	+	Missense_Mutation	SNP	G	G	A	rs373068965		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:56439937G>A	ENST00000584437.1	-	5	2610	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	RNF43_ENST00000583753.1_Missense_Mutation_p.R178C|RNF43_ENST00000500597.2_Missense_Mutation_p.R178C|RNF43_ENST00000577716.1_Missense_Mutation_p.R219C|RNF43_ENST00000581868.1_Missense_Mutation_p.R92C|RNF43_ENST00000407977.2_Missense_Mutation_p.R219C|RNF43_ENST00000577625.1_Missense_Mutation_p.R92C|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	219					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACCGGATGCGCAGCACCGAA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		12920	0.0		0.001	False		,,,				2504	0.0					ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(655-657)Cgc>Tgc		ring finger protein 43							72.0	63.0	66.0					17																	56439937		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56439937G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.655C>T	17.37:g.56439937G>A	ENSP00000463069:p.Arg219Cys					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Missense_Mutation_p.R178C|RNF43_ENST00000581868.1_Missense_Mutation_p.R92C|RNF43_ENST00000407977.2_Missense_Mutation_p.R219C|RNF43_ENST00000577716.1_Missense_Mutation_p.R219C|RNF43_ENST00000583753.1_Missense_Mutation_p.R178C|RNF43_ENST00000577625.1_Missense_Mutation_p.R92C	p.R219C			Q68DV7	RNF43_HUMAN			5	2610	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		219					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.655C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	34	5.309625	0.95629	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.10382	3.01;2.88	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.22166	0.0534	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.992;0.993;0.974	T	0.02059	-1.1221	10	0.56958	D	0.05	-22.6329	18.2123	0.89874	0.0:0.0:1.0:0.0	.	178;219;219	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	C	219;178	ENSP00000385328:R219C;ENSP00000441969:R178C	ENSP00000385328:R219C	R	-	1	0	RNF43	53794936	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.692000	0.84203	2.546000	0.85860	0.491000	0.48974	CGC		0.607	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		7	51	0	0	0	1	0	7	51				
SPATA31D1	389763	broad.mit.edu	37	9	84608365	84608365	+	Missense_Mutation	SNP	G	G	A	rs370117363		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr9:84608365G>A	ENST00000344803.2	+	4	3027	c.2980G>A	c.(2980-2982)Gtc>Atc	p.V994I		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	994					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCACCTGTCGTCCAAGAAGG	0.502																																						ENST00000344803.2																			0											c.(2980-2982)Gtc>Atc		SPATA31 subfamily D, member 1		G	ILE/VAL	0,3878		0,0,1939	144.0	146.0	146.0		2980	-1.3	0.0	9		146	1,8279		0,1,4139	no	missense	FAM75D1	NM_001001670.2	29	0,1,6078	AA,AG,GG		0.0121,0.0,0.0082	benign	994/1577	84608365	1,12157	1939	4140	6079	SO:0001583	missense	389763							g.chr9:84608365G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2980G>A	9.37:g.84608365G>A	ENSP00000341988:p.Val994Ile						p.V994I	NM_001001670.2	NP_001001670.1					4	3027	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.2980G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	7.888	0.731644	0.15507	0.0	1.21E-4	ENSG00000214929	ENST00000344803	T	0.04917	3.53	2.45	-1.28	0.09318	.	.	.	.	.	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.30326	0.276	B	0.27500	0.08	T	0.43048	-0.9415	9	0.37606	T	0.19	.	2.3029	0.04167	0.3792:0.0:0.3883:0.2325	.	994	Q6ZQQ2	F75D1_HUMAN	I	994	ENSP00000341988:V994I	ENSP00000341988:V994I	V	+	1	0	FAM75D1	83798185	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.401000	0.07232	-0.276000	0.09206	-0.233000	0.12211	GTC		0.502	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		34	142	0	0	0	1	0	34	142				
SLC4A2	6522	broad.mit.edu	37	7	150762020	150762020	+	Missense_Mutation	SNP	C	C	T	rs201141316	byFrequency	TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr7:150762020C>T	ENST00000485713.1	+	5	1585	c.545C>T	c.(544-546)gCg>gTg	p.A182V	SLC4A2_ENST00000413384.2_Missense_Mutation_p.A182V|SLC4A2_ENST00000461735.1_Missense_Mutation_p.A168V|SLC4A2_ENST00000310317.5_Missense_Mutation_p.A100V|SLC4A2_ENST00000392826.2_Missense_Mutation_p.A173V	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	182	Pro-rich.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCAGGAGGCGACTCCTCGG	0.587													C|||	3	0.000599042	0.0	0.0	5008	,	,		16082	0.002		0.0	False		,,,				2504	0.001					ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(544-546)gCg>gTg		solute carrier family 4 (anion exchanger), member 2		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	59.0	64.0	63.0		545,518,503,545	4.1	1.0	7		63	0,8600		0,0,4300	no	missense,missense,missense,missense	SLC4A2	NM_001199692.1,NM_001199693.1,NM_001199694.1,NM_003040.3	64,64,64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	182/1242,173/1233,168/1228,182/1242	150762020	1,13005	2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150762020C>T		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.545C>T	7.37:g.150762020C>T	ENSP00000419412:p.Ala182Val					SLC4A2_ENST00000461735.1_Missense_Mutation_p.A168V|SLC4A2_ENST00000310317.5_Missense_Mutation_p.A100V|SLC4A2_ENST00000413384.2_Missense_Mutation_p.A182V|SLC4A2_ENST00000392826.2_Missense_Mutation_p.A173V	p.A182V	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1585	+			182			Pro-rich.		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.545C>T	CCDS5917.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.15	2.451008	0.43531	2.27E-4	0.0	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.92	5.01	4.12	0.48240	.	0.598800	0.14918	N	0.290802	T	0.56934	0.2019	L	0.38531	1.155	0.21473	N	0.999673	P;P;P	0.43662	0.802;0.802;0.814	B;B;B	0.29663	0.105;0.105;0.049	T	0.42032	-0.9475	10	0.17369	T	0.5	.	11.8308	0.52295	0.0:0.8235:0.1765:0.0	.	173;168;182	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	V	182;182;100;173;168	ENSP00000419412:A182V;ENSP00000405600:A182V;ENSP00000311402:A100V;ENSP00000376571:A173V;ENSP00000419164:A168V	ENSP00000311402:A100V	A	+	2	0	SLC4A2	150392953	0.009000	0.17119	0.997000	0.53966	0.950000	0.60333	-0.106000	0.10890	1.219000	0.43474	0.655000	0.94253	GCG		0.587	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		14	38	0	0	0	1	0	14	38				
PLXNB1	5364	broad.mit.edu	37	3	48445969	48445969	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr3:48445969G>A	ENST00000358536.4	-	38	6601	c.6332C>T	c.(6331-6333)aCg>aTg	p.T2111M	PLXNB1_ENST00000358459.4_Missense_Mutation_p.T1928M|PLXNB1_ENST00000456774.1_Missense_Mutation_p.T1928M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.T2111M|PLXNB1_ENST00000448774.2_Missense_Mutation_p.T722M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2111					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTTCTGGGCCGTGCCATCCTC	0.547																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(6331-6333)aCg>aTg		plexin B1							55.0	53.0	53.0					3																	48445969		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48445969G>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.6332C>T	3.37:g.48445969G>A	ENSP00000351338:p.Thr2111Met					PLXNB1_ENST00000448774.2_Missense_Mutation_p.T722M|PLXNB1_ENST00000456774.1_Missense_Mutation_p.T1928M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.T2111M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.T1928M	p.T2111M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	38	6601	-			2111					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.6332C>T	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897873	0.33535	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.12147	3.94;3.95;3.94;2.71;3.95	4.87	4.0	0.46444	.	0.118658	0.56097	D	0.000032	T	0.19565	0.0470	L	0.34521	1.04	0.46222	D	0.998936	D;P	0.65815	0.995;0.884	P;B	0.56960	0.81;0.325	T	0.01188	-1.1424	10	0.34782	T	0.22	.	12.1864	0.54241	0.0822:0.0:0.9178:0.0	.	2111;1928	O43157;O43157-2	PLXB1_HUMAN;.	M	2111;1928;2111;722;1928	ENSP00000296440:T2111M;ENSP00000351242:T1928M;ENSP00000351338:T2111M;ENSP00000389320:T722M;ENSP00000414199:T1928M	ENSP00000296440:T2111M	T	-	2	0	PLXNB1	48420973	1.000000	0.71417	0.800000	0.32199	0.976000	0.68499	4.854000	0.62918	1.061000	0.40601	-0.142000	0.14014	ACG		0.547	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		11	12	0	0	0	1	0	11	12				
CNNM3	26505	broad.mit.edu	37	2	97492662	97492662	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:97492662T>C	ENST00000305510.3	+	3	1490	c.1462T>C	c.(1462-1464)Tat>Cat	p.Y488H	CNNM3_ENST00000377060.3_Missense_Mutation_p.Y440H|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	488					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						TGATGATGAATATAAAGTAAC	0.567																																						ENST00000305510.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						c.(1462-1464)Tat>Cat		cyclin M3							111.0	100.0	103.0					2																	97492662		2203	4300	6503	SO:0001583	missense	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97492662T>C	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1462T>C	2.37:g.97492662T>C	ENSP00000305449:p.Tyr488His					ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Missense_Mutation_p.Y440H	p.Y488H	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN			3	1490	+			488					B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	37	c.1462T>C	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	T	9.347	1.064410	0.20067	.	.	ENSG00000168763	ENST00000377060;ENST00000424641;ENST00000305510	D;D	0.90385	-2.37;-2.66	5.76	3.19	0.36642	.	0.599517	0.17080	N	0.187804	D	0.84683	0.5526	L	0.29908	0.895	0.09310	N	1	B;P	0.35192	0.117;0.489	P;B	0.45343	0.477;0.285	T	0.71882	-0.4458	10	0.15952	T	0.53	0.0144	2.8728	0.05621	0.1459:0.0778:0.1524:0.6239	.	440;488	Q8NE01-2;Q8NE01	.;CNNM3_HUMAN	H	440;440;488	ENSP00000366260:Y440H;ENSP00000305449:Y488H	ENSP00000305449:Y488H	Y	+	1	0	CNNM3	96856389	0.000000	0.05858	0.001000	0.08648	0.993000	0.82548	0.203000	0.17315	0.979000	0.38497	0.533000	0.62120	TAT		0.567	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		43	44	0	0	0	1	0	43	44				
PCSK5	5125	broad.mit.edu	37	9	78925604	78925604	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr9:78925604T>C	ENST00000545128.1	+	29	4178	c.3640T>C	c.(3640-3642)Tcc>Ccc	p.S1214P		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1214	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGTGTTTCCTCCTGTCCCCA	0.517																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(3640-3642)Tcc>Ccc		proprotein convertase subtilisin/kexin type 5							58.0	53.0	55.0					9																	78925604		876	1991	2867	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78925604T>C		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.3640T>C	9.37:g.78925604T>C	ENSP00000446280:p.Ser1214Pro						p.S1214P	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			29	4178	+			866					F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.3640T>C	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	T	8.781	0.928201	0.18131	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.31769	1.48;1.53	5.54	3.12	0.35913	.	0.702099	0.14508	N	0.315333	T	0.44030	0.1274	M	0.85299	2.745	0.30009	N	0.815301	.	.	.	.	.	.	T	0.41016	-0.9532	8	0.33141	T	0.24	-8.2173	6.2664	0.20930	0.1596:0.0:0.1671:0.6733	.	.	.	.	P	1214;944;914	ENSP00000446280:S1214P;ENSP00000411654:S914P	ENSP00000365945:S944P	S	+	1	0	PCSK5	78115424	0.005000	0.15991	0.727000	0.30756	0.040000	0.13550	0.111000	0.15458	0.353000	0.24079	-0.316000	0.08728	TCC		0.517	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	19	0	0	0	1	0	12	19				
KCNK16	83795	broad.mit.edu	37	6	39284602	39284602	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr6:39284602G>A	ENST00000373229.5	-	4	630	c.617C>T	c.(616-618)gCt>gTt	p.A206V	KCNK17_ENST00000453413.2_5'Flank|KCNK16_ENST00000437525.2_Missense_Mutation_p.A206V|KCNK16_ENST00000425054.2_Missense_Mutation_p.A206V|KCNK16_ENST00000373227.4_Missense_Mutation_p.A206V|KCNK16_ENST00000507712.1_Missense_Mutation_p.A141V|KCNK17_ENST00000373231.4_5'Flank	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	206				FAF -> LLS (in Ref. 2; AAP82867). {ECO:0000305}.	potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AGTGATGAAAGCAAAGTAGAA	0.542																																						ENST00000425054.2																			0				large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						c.(616-618)gCt>gTt		potassium channel, subfamily K, member 16							167.0	165.0	166.0					6																	39284602		2203	4300	6503	SO:0001583	missense	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39284602G>A	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.617C>T	6.37:g.39284602G>A	ENSP00000362326:p.Ala206Val					KCNK16_ENST00000437525.2_Missense_Mutation_p.A206V|KCNK16_ENST00000373227.4_Missense_Mutation_p.A206V|KCNK16_ENST00000373229.5_Missense_Mutation_p.A206V|KCNK16_ENST00000507712.1_Missense_Mutation_p.A141V	p.A206V	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN			4	616	-			206	FAF -> LLS (in Ref. 2; AAP82867).				B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	c.617C>T	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960268	0.74016	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000507712;ENST00000373227;ENST00000437525	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.35	5.35	0.76521	Ion transport 2 (1);	0.186449	0.45126	D	0.000394	T	0.28732	0.0712	L	0.46157	1.445	0.50039	D	0.999846	P;P;P;P	0.52692	0.811;0.951;0.952;0.955	P;P;B;P	0.60117	0.489;0.784;0.436;0.869	T	0.06427	-1.0827	10	0.02654	T	1	.	18.647	0.91415	0.0:0.0:1.0:0.0	.	206;206;206;206	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	V	206;206;141;206;206	ENSP00000362326:A206V;ENSP00000391498:A206V;ENSP00000423842:A141V;ENSP00000362324:A206V;ENSP00000415375:A206V	ENSP00000362324:A206V	A	-	2	0	KCNK16	39392580	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.953000	0.63624	2.519000	0.84933	0.561000	0.74099	GCT		0.542	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		4	201	0	0	0	1	0	4	201				
ATRX	546	broad.mit.edu	37	X	76829787	76829787	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chrX:76829787C>G	ENST00000373344.5	-	28	6468	c.6254G>C	c.(6253-6255)cGt>cCt	p.R2085P	ATRX_ENST00000395603.3_Missense_Mutation_p.R2047P|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2085	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACCATCTAAACGGTAATAGTC	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145	GRCh37	CM062435	ATRX	M		c.(6253-6255)cGt>cCt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						137.0	121.0	126.0					X																	76829787		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76829787C>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6254G>C	X.37:g.76829787C>G	ENSP00000362441:p.Arg2085Pro					ATRX_ENST00000395603.3_Missense_Mutation_p.R2047P|ATRX_ENST00000480283.1_5'UTR	p.R2085P	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			28	6468	-			2085			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6254G>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	-	18.11	3.549734	0.65311	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	T;T	0.75477	-0.94;-0.94	5.45	5.45	0.79879	Helicase, C-terminal (3);	0.000000	0.64402	U	0.000001	D	0.92825	0.7718	H	0.99391	4.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96137	0.9097	10	0.87932	D	0	-5.5915	18.0086	0.89216	0.0:1.0:0.0:0.0	.	2047;2085	P46100-4;P46100	.;ATRX_HUMAN	P	2085;2047	ENSP00000362441:R2085P;ENSP00000378967:R2047P	ENSP00000362441:R2085P	R	-	2	0	ATRX	76716443	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.090000	0.76916	2.288000	0.76882	0.540000	0.68198	CGT		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		84	16	0	0	0	1	0	84	16				
SPRR2D	6703	broad.mit.edu	37	1	153012733	153012733	+	Silent	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr1:153012733C>T	ENST00000368757.1	-	2	370	c.90G>A	c.(88-90)ccG>ccA	p.P30P	SPRR2D_ENST00000360379.3_Silent_p.P30P|SPRR2D_ENST00000368758.3_Silent_p.P30P|SPRR2D_ENST00000368756.1_Silent_p.P30P			P22532	SPR2D_HUMAN	small proline-rich protein 2D	30	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCACTTCGGGGGTGGAC	0.617																																						ENST00000368757.1																			0				endometrium(1)|skin(1)	2						c.(88-90)ccG>ccA		small proline-rich protein 2D							103.0	90.0	94.0					1																	153012733		2203	4297	6500	SO:0001819	synonymous_variant	6703				keratinization	cornified envelope|cytoplasm		g.chr1:153012733C>T	AF333954	CCDS30864.1	1q21-q22	2008-02-05			ENSG00000163216	ENSG00000163216			11264	protein-coding gene	gene with protein product						8325635	Standard	NM_006945		Approved		uc001fbb.2	P22532	OTTHUMG00000014396	ENST00000368757.1:c.90G>A	1.37:g.153012733C>T						SPRR2D_ENST00000368756.1_Silent_p.P30P|SPRR2D_ENST00000360379.3_Silent_p.P30P|SPRR2D_ENST00000368758.3_Silent_p.P30P	p.P30P			P22532	SPR2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	370	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		30			3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].		A4QN03|A8K5K2|D3DV33|Q5T523|Q96RM3	Silent	SNP	ENST00000368757.1	37	c.90G>A	CCDS30864.1																																																																																				0.617	SPRR2D-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040051.1			79	90	0	0	0	1	0	79	90				
AADAT	51166	broad.mit.edu	37	4	170990336	170990336	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr4:170990336T>A	ENST00000337664.4	-	7	1042	c.766A>T	c.(766-768)Atc>Ttc	p.I256F	AADAT_ENST00000509167.1_Missense_Mutation_p.I260F|AADAT_ENST00000515480.1_Missense_Mutation_p.I256F|AADAT_ENST00000353187.2_Missense_Mutation_p.I256F	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	256					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		TCAGCTCTGATGACACGTCCA	0.388																																						ENST00000337664.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11						c.(766-768)Atc>Ttc		aminoadipate aminotransferase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						84.0	81.0	82.0					4																	170990336		2203	4300	6503	SO:0001583	missense	51166				2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity	g.chr4:170990336T>A	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.766A>T	4.37:g.170990336T>A	ENSP00000336808:p.Ile256Phe					AADAT_ENST00000515480.1_Missense_Mutation_p.I256F|AADAT_ENST00000353187.2_Missense_Mutation_p.I256F|AADAT_ENST00000509167.1_Missense_Mutation_p.I260F	p.I256F	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	7	1042	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	256					B3KP84|Q9UL02	Missense_Mutation	SNP	ENST00000337664.4	37	c.766A>T	CCDS3814.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317260	0.81469	.	.	ENSG00000109576	ENST00000337664;ENST00000515480;ENST00000509167;ENST00000353187	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.24	5.24	0.73138	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.048392	0.85682	D	0.000000	T	0.74966	0.3786	M	0.91717	3.235	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.75484	0.976;0.986	T	0.81448	-0.0928	10	0.72032	D	0.01	-22.3237	15.8522	0.78940	0.0:0.0:0.0:1.0	.	260;256	Q8N5Z0-2;Q8N5Z0	.;AADAT_HUMAN	F	256;256;260;256	ENSP00000336808:I256F;ENSP00000423341:I256F;ENSP00000423190:I260F;ENSP00000226840:I256F	ENSP00000336808:I256F	I	-	1	0	AADAT	171226911	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.467000	0.53078	2.285000	0.76669	0.533000	0.62120	ATC		0.388	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228		25	37	0	0	0	1	0	25	37				
GOLGA6L7P	728310	broad.mit.edu	37	15	29092257	29092257	+	RNA	SNP	C	C	T	rs75388271		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr15:29092257C>T	ENST00000569815.1	-	0	258					NR_047567.1				golgin A6 family-like 7, pseudogene																		TCAGGGTTAGCGCCATGATTT	0.547																																						ENST00000569815.1																			0																																																			0							g.chr15:29092257C>T	AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29092257C>T								NR_047567.1						0	258	-									RNA	SNP	ENST00000569815.1	37																																																																																						0.547	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431796.1	XR_078490		3	25	0	0	0	1	0	3	25				
POGLUT1	56983	broad.mit.edu	37	3	119187879	119187879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr3:119187879G>A	ENST00000295588.4	+	1	95	c.11G>A	c.(10-12)tGg>tAg	p.W4*		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	4					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						ATGGAGTGGTGGGCTAGCTCG	0.711																																						ENST00000295588.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(10-12)tGg>tAg		protein O-glucosyltransferase 1							47.0	40.0	42.0					3																	119187879		2202	4299	6501	SO:0001587	stop_gained	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119187879G>A	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.11G>A	3.37:g.119187879G>A	ENSP00000295588:p.Trp4*						p.W4*	NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN			1	95	+			4					B2RD13|Q53GJ4|Q8N2T1	Nonsense_Mutation	SNP	ENST00000295588.4	37	c.11G>A	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032275	0.54790	.	.	ENSG00000163389	ENST00000295588	.	.	.	4.58	-1.38	0.09027	.	3.035780	0.00695	N	0.000753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	9.7467	7.973	0.30138	0.0:0.4287:0.2799:0.2914	.	.	.	.	X	4	.	ENSP00000295588:W4X	W	+	2	0	POGLUT1	120670569	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.181000	0.09740	-0.058000	0.13177	0.655000	0.94253	TGG		0.711	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		3	3	0	0	0	1	0	3	3				
AFF2	2334	broad.mit.edu	37	X	148038126	148038126	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chrX:148038126G>T	ENST00000370460.2	+	11	3030	c.2551G>T	c.(2551-2553)Ggc>Tgc	p.G851C	AFF2_ENST00000286437.5_Missense_Mutation_p.G492C|AFF2_ENST00000342251.3_Missense_Mutation_p.G818C|AFF2_ENST00000370457.5_Missense_Mutation_p.G818C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	851					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCTAAGGGCAAACGTAA	0.517																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(2551-2553)Ggc>Tgc		AF4/FMR2 family, member 2							65.0	64.0	64.0					X																	148038126		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148038126G>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2551G>T	X.37:g.148038126G>T	ENSP00000359489:p.Gly851Cys					AFF2_ENST00000342251.3_Missense_Mutation_p.G818C|AFF2_ENST00000286437.5_Missense_Mutation_p.G492C|AFF2_ENST00000370457.5_Missense_Mutation_p.G818C	p.G851C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			11	3030	+	Acute lymphoblastic leukemia(192;6.56e-05)		851					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.2551G>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019916	0.35606	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.87	2.8	0.32819	.	0.487137	0.23169	N	0.051159	T	0.67795	0.2931	L	0.59436	1.845	0.30424	N	0.777833	D;D;D;D;D;D	0.76494	0.999;0.998;0.998;0.998;0.998;0.999	P;P;P;P;P;D	0.65323	0.905;0.891;0.891;0.891;0.891;0.934	T	0.65142	-0.6240	10	0.62326	D	0.03	.	4.179	0.10365	0.2069:0.0:0.3906:0.4025	.	492;816;818;812;841;851	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	C	851;818;818;492	ENSP00000359489:G851C;ENSP00000359486:G818C;ENSP00000345459:G818C;ENSP00000286437:G492C	ENSP00000286437:G492C	G	+	1	0	AFF2	147845826	1.000000	0.71417	0.997000	0.53966	0.329000	0.28539	0.891000	0.28309	1.233000	0.43693	0.600000	0.82982	GGC		0.517	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		24	6	1	0	7.87624e-14	1	8.16796e-14	24	6				
LHX1	3975	broad.mit.edu	37	17	35298051	35298051	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:35298051G>A	ENST00000254457.5	+	3	1953	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	181					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCCAAGCGGCGGGGACCGCGC	0.667																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(541-543)cGg>cAg		LIM homeobox 1							42.0	47.0	45.0					17																	35298051		2203	4300	6503	SO:0001583	missense	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35298051G>A	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.542G>A	17.37:g.35298051G>A	ENSP00000254457:p.Arg181Gln					RP11-445F12.2_ENST00000607336.1_RNA	p.R181Q	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			3	1953	+		Breast(25;0.00607)	181					Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	c.542G>A	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	G	36	5.662446	0.96734	.	.	ENSG00000132130	ENST00000254457	D	0.97209	-4.29	4.26	4.26	0.50523	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.98295	0.9435	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98951	1.0794	10	0.72032	D	0.01	.	17.9822	0.89145	0.0:0.0:1.0:0.0	.	167;181	B4DPA6;P48742	.;LHX1_HUMAN	Q	181	ENSP00000254457:R181Q	ENSP00000254457:R181Q	R	+	2	0	LHX1	32372164	1.000000	0.71417	0.792000	0.32020	0.986000	0.74619	9.573000	0.98181	2.648000	0.89879	0.561000	0.74099	CGG		0.667	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		20	21	0	0	0	1	0	20	21				
ARID3C	138715	broad.mit.edu	37	9	34623537	34623537	+	Silent	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr9:34623537C>T	ENST00000378909.2	-	4	842	c.750G>A	c.(748-750)ttG>ttA	p.L250L		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	250	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		GGCCGGGACCCAAGGCTGGGT	0.721																																						ENST00000378909.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14						c.(748-750)ttG>ttA		AT rich interactive domain 3C (BRIGHT-like)							15.0	20.0	18.0					9																	34623537		2155	4238	6393	SO:0001819	synonymous_variant	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34623537C>T		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.750G>A	9.37:g.34623537C>T							p.L250L	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	4	842	-	all_epithelial(49;0.102)		250			Pro-rich.			Silent	SNP	ENST00000378909.2	37	c.750G>A	CCDS35006.1																																																																																				0.721	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		19	16	0	0	0	1	0	19	16				
TENM3	55714	broad.mit.edu	37	4	183710374	183710374	+	Silent	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr4:183710374G>A	ENST00000511685.1	+	25	5556	c.5433G>A	c.(5431-5433)ctG>ctA	p.L1811L	TENM3_ENST00000406950.2_Silent_p.L1811L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1811					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTCTCTGGCTGCCAAGCAGCA	0.498																																						ENST00000511685.1																			0											c.(5431-5433)ctG>ctA		teneurin transmembrane protein 3							51.0	51.0	51.0					4																	183710374		1964	4152	6116	SO:0001819	synonymous_variant	55714							g.chr4:183710374G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5433G>A	4.37:g.183710374G>A						TENM3_ENST00000406950.2_Silent_p.L1811L	p.L1811L							25	5556	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.5433G>A	CCDS47165.1																																																																																				0.498	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			11	12	0	0	0	1	0	11	12				
MED16	10025	broad.mit.edu	37	19	877046	877046	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr19:877046C>A	ENST00000589119.1	-	8	1487	c.1488G>T	c.(1486-1488)caG>caT	p.Q496H	MED16_ENST00000269814.4_Missense_Mutation_p.Q496H|MED16_ENST00000606828.1_Intron|MED16_ENST00000312090.6_Missense_Mutation_p.Q496H|MED16_ENST00000325464.1_Missense_Mutation_p.Q496H|MED16_ENST00000395808.3_Missense_Mutation_p.Q496H			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	496					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATACTGGGCTGCACGTGCA	0.682																																						ENST00000312090.6																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1486-1488)caG>caT		mediator complex subunit 16							55.0	46.0	49.0					19																	877046		2196	4296	6492	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:877046C>A	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1488G>T	19.37:g.877046C>A	ENSP00000464810:p.Gln496His					MED16_ENST00000269814.4_Missense_Mutation_p.Q496H|MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.Q496H|MED16_ENST00000395808.3_Missense_Mutation_p.Q496H|MED16_ENST00000325464.1_Missense_Mutation_p.Q496H	p.Q496H			Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1638	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	496					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.1488G>T	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	c	14.61	2.587714	0.46110	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000541440;ENST00000424039	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.03	4.03	0.46877	.	0.145790	0.49305	D	0.000147	T	0.38295	0.1035	N	0.04880	-0.145	0.53688	D	0.999972	D;D;D;D	0.58620	0.965;0.983;0.965;0.971	P;P;P;P	0.60345	0.799;0.847;0.799;0.873	T	0.41034	-0.9531	10	0.32370	T	0.25	-5.7431	15.2146	0.73254	0.0:1.0:0.0:0.0	.	496;496;496;496	Q9Y2X0-2;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;MED16_HUMAN	H	496;496;496;496;352;257;255;214;496	ENSP00000325612:Q496H;ENSP00000308528:Q496H;ENSP00000379153:Q496H;ENSP00000269814:Q496H	ENSP00000269814:Q496H	Q	-	3	2	MED16	828046	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.504000	0.53347	1.806000	0.52798	0.500000	0.49745	CAG		0.682	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		48	10	1	0	1.19451e-25	1	1.26213e-25	48	10				
RASSF2	9770	broad.mit.edu	37	20	4771250	4771250	+	Silent	SNP	C	C	T	rs370756464		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr20:4771250C>T	ENST00000379400.3	-	7	579	c.384G>A	c.(382-384)agG>agA	p.R128R	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.R128R	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	128					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCTTCAGGCCCCTGGAGTCTG	0.607																																					Melanoma(158;1891 3343 50738)	ENST00000379400.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(382-384)agG>agA		Ras association (RalGDS/AF-6) domain family member 2		C	,	2,4404	2.1+/-5.4	0,2,2201	33.0	32.0	32.0		384,384	0.9	1.0	20		32	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RASSF2	NM_014737.2,NM_170774.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	128/327,128/327	4771250	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4771250C>T	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.384G>A	20.37:g.4771250C>T						RASSF2_ENST00000379376.2_Silent_p.R128R|RASSF2_ENST00000478553.1_5'UTR	p.R128R	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN			7	579	-			128					A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Silent	SNP	ENST00000379400.3	37	c.384G>A	CCDS13083.1																																																																																				0.607	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		11	21	0	0	0	1	0	11	21				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	48	0	0	0	1	0	3	48				
DYNC2H1	79659	broad.mit.edu	37	11	103194689	103194689	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr11:103194689C>T	ENST00000375735.2	+	82	12154	c.12010C>T	c.(12010-12012)Cgc>Tgc	p.R4004C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R4011C|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4004					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAATATCGCTCGCTCATCTCA	0.393																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(12010-12012)Cgc>Tgc		dynein, cytoplasmic 2, heavy chain 1							69.0	68.0	68.0					11																	103194689		1874	4110	5984	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103194689C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.12010C>T	11.37:g.103194689C>T	ENSP00000364887:p.Arg4004Cys					DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R4011C|DYNC2H1_ENST00000334267.7_Intron	p.R4004C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	82	12154	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	4004					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.12010C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987871	0.74589	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.09350	2.99;2.99	5.82	5.82	0.92795	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.979	T	0.35301	-0.9794	10	0.72032	D	0.01	.	18.2756	0.90081	0.0:1.0:0.0:0.0	.	4004;4011	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	4004;4011;250	ENSP00000364887:R4004C;ENSP00000381167:R4011C	ENSP00000364887:R4004C	R	+	1	0	DYNC2H1	102699899	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.142000	0.58044	2.753000	0.94483	0.467000	0.42956	CGC		0.393	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		4	27	0	0	0	1	0	4	27				
IFT74	80173	broad.mit.edu	37	9	27062702	27062702	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr9:27062702G>A	ENST00000443698.1	+	20	1942	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M	IFT74_ENST00000380062.5_Missense_Mutation_p.V591M|IFT74_ENST00000433700.1_Missense_Mutation_p.V591M	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	591					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TAAAACCATCGTGGATGCTTT	0.403																																						ENST00000443698.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(1771-1773)Gtg>Atg		intraflagellar transport 74 homolog (Chlamydomonas)							103.0	94.0	97.0					9																	27062702		1864	4101	5965	SO:0001583	missense	80173					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum		g.chr9:27062702G>A	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.1771G>A	9.37:g.27062702G>A	ENSP00000404122:p.Val591Met					IFT74_ENST00000380062.5_Missense_Mutation_p.V591M|IFT74_ENST00000433700.1_Missense_Mutation_p.V591M	p.V591M	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)	20	1942	+		all_neural(11;2.36e-10)	591					Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	ENST00000443698.1	37	c.1771G>A	CCDS43793.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029133	0.35797	.	.	ENSG00000096872	ENST00000433700;ENST00000443698;ENST00000380062	T;T;T	0.12039	2.72;2.72;2.72	6.07	0.379	0.16213	.	0.363338	0.27912	N	0.017347	T	0.06462	0.0166	N	0.12182	0.205	0.24303	N	0.995115	B	0.22480	0.07	B	0.11329	0.006	T	0.37454	-0.9705	10	0.25106	T	0.35	-2.5082	9.7254	0.40328	0.6698:0.0:0.3302:0.0	.	591	Q96LB3	IFT74_HUMAN	M	591	ENSP00000389224:V591M;ENSP00000404122:V591M;ENSP00000369402:V591M	ENSP00000369402:V591M	V	+	1	0	IFT74	27052702	0.996000	0.38824	0.718000	0.30602	0.964000	0.63967	2.364000	0.44187	0.010000	0.14839	0.585000	0.79938	GTG		0.403	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103		21	31	0	0	0	1	0	21	31				
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-	rs199823862|rs372931983		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(607-615)tgfs		olfactory receptor, family 2, subfamily T, member 2				51,3755		2,47,1854						-2.5	0.6			76	261,7371		12,237,3567	no	frameshift	OR2T2	NM_001004136.1		14,284,5421	A1A1,A1R,RR		3.4198,1.34,2.7277				312,11126				SO:0001589	frameshift_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616705_248616711delTGCTGCG	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.607_613delTGCTGCG	1.37:g.248616705_248616711delTGCTGCG	ENSP00000343062:p.Cys203fs						p.CCV203fs	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	629_635	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		203					B2RNM1|B9EH01	Frame_Shift_Del	DEL	ENST00000342927.3	37	c.607_613delTGCTGCG	CCDS31116.1																																																																																				0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		7	35						7	35	---	---	---	---
IL17RD	54756	broad.mit.edu	37	3	57144240	57144240	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr3:57144240delT	ENST00000296318.7	-	4	498	c.410delA	c.(409-411)aacfs	p.N137fs	IL17RD_ENST00000427856.2_Frame_Shift_Del_p.N113fs|IL17RD_ENST00000320057.5_5'UTR|IL17RD_ENST00000463523.1_5'UTR	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	137					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GAAGCTACTGTTGAGCTGCTT	0.463																																						ENST00000296318.7																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16						c.(409-411)acfs		interleukin 17 receptor D							129.0	121.0	123.0					3																	57144240		1951	4150	6101	SO:0001589	frameshift_variant	54756					Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57144240delT	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.410delA	3.37:g.57144240delT	ENSP00000296318:p.Asn137fs					IL17RD_ENST00000427856.2_Frame_Shift_Del_p.N113fs|IL17RD_ENST00000320057.5_5'UTR|IL17RD_ENST00000463523.1_5'UTR	p.N137fs	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	4	498	-			137					Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Frame_Shift_Del	DEL	ENST00000296318.7	37	c.410delA	CCDS2880.2																																																																																				0.463	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		2	4						2	4	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121651419	121651420	+	In_Frame_Ins	INS	-	-	TTG			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr7:121651419_121651420insTTG	ENST00000393386.2	+	12	2730_2731	c.2319_2320insTTG	c.(2320-2322)ttg>TTGttg	p.774_774L>LL	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	774					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAGTCACCCCTTTGTTGCTTGA	0.485																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2317-2322)cctgtt>ccTTGtgtt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1																																				SO:0001652	inframe_insertion	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651419_121651420insTTG	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2323_2325dupTTG	7.37:g.121651423_121651425dupTTG	ENSP00000377047:p.Leu776dup					PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	p.773_774PV>PCV	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	2730_2731	+			773					A4D0W5|C9JFM0|O76043|Q9UDR6	In_Frame_Ins	INS	ENST00000393386.2	37	c.2319_2320insTTG	CCDS34740.1																																																																																				0.485	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		8	122						8	122	---	---	---	---
KIFC2	90990	broad.mit.edu	37	8	145698697	145698697	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr8:145698697delT	ENST00000301332.2	+	17	2758	c.2381delT	c.(2380-2382)ctgfs	p.L794fs	KIFC2_ENST00000301331.5_3'UTR|FOXH1_ENST00000525197.1_5'Flank	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	794	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CGCCGTCCCCTGGCAGTCCTC	0.746																																						ENST00000301332.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19						c.(2380-2382)cgfs		kinesin family member C2							11.0	9.0	10.0					8																	145698697		2107	4176	6283	SO:0001589	frameshift_variant	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145698697delT	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.2381delT	8.37:g.145698697delT	ENSP00000301332:p.Leu794fs					KIFC2_ENST00000301331.5_3'UTR	p.L794fs	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		17	2758	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		794			Pro-rich.		E9PHB2|Q96NN6	Frame_Shift_Del	DEL	ENST00000301332.2	37	c.2381delT	CCDS6427.1																																																																																				0.746	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		2	4						2	4	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14063263	14063263	+	RNA	DEL	A	A	-	rs113227652|rs369622005		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr11:14063263delA	ENST00000310358.7	+	0	1017							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GATTGCAGGGAAAAAAAAAAA	0.423																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein																																						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14063263delA	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14063263delA										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1017	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	DEL	ENST00000310358.7	37																																																																																						0.423	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		4	8						4	8	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343746	15343749	+	RNA	DEL	TCTG	TCTG	-	rs201012227|rs570464638	byFrequency	TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr21:15343746_15343749delTCTG	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		CTCTGTGCTTTCTGATGTGCTGCT	0.407														730	0.145767	0.174	0.121	5008	,	,		17936	0.1806		0.0924	False		,,,				2504	0.1442					ENST00000344693.5																			0																																																			0							g.chr21:15343746_15343749delTCTG			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343746_15343749delTCTG								NR_027270.1						0	736	-									RNA	DEL	ENST00000344693.5	37																																																																																						0.407	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			4	4						4	4	---	---	---	---
