#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
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	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		4	124	0	0	0	1	0	4	124				
CEP250	11190	broad.mit.edu	37	20	34084410	34084410	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:34084410A>G	ENST00000397527.1	+	25	3892	c.3172A>G	c.(3172-3174)Act>Gct	p.T1058A	CEP250_ENST00000342580.4_Missense_Mutation_p.T1002A	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1058	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TTTTAGCCTGACTCTGTCACT	0.433																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3172-3174)Act>Gct		centrosomal protein 250kDa							70.0	66.0	67.0					20																	34084410		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34084410A>G	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.3172A>G	20.37:g.34084410A>G	ENSP00000380661:p.Thr1058Ala					CEP250_ENST00000342580.4_Missense_Mutation_p.T1002A	p.T1058A	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		25	3892	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1058			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.3172A>G	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.460522	0.26248	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.09817	2.96;2.94	4.82	2.41	0.29592	.	0.825311	0.10912	N	0.620513	T	0.05823	0.0152	L	0.27053	0.805	0.19775	N	0.999956	B	0.06786	0.001	B	0.06405	0.002	T	0.45160	-0.9280	10	0.08599	T	0.76	.	2.8052	0.05425	0.5974:0.0:0.2147:0.1879	.	1058	Q9BV73	CP250_HUMAN	A	1058;1002	ENSP00000380661:T1058A;ENSP00000341541:T1002A	ENSP00000341541:T1002A	T	+	1	0	CEP250	33547824	0.977000	0.34250	1.000000	0.80357	0.923000	0.55619	0.822000	0.27352	0.822000	0.34565	0.528000	0.53228	ACT		0.433	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		64	91	0	0	0	1	0	64	91				
CHD1	1105	broad.mit.edu	37	5	98232063	98232063	+	Missense_Mutation	SNP	T	T	A	rs531435864		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:98232063T>A	ENST00000284049.3	-	11	1726	c.1577A>T	c.(1576-1578)gAa>gTa	p.E526V		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	526	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TAATTGATGTTCATGAAACAA	0.368																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(1576-1578)gAa>gTa		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						93.0	97.0	96.0					5																	98232063		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98232063T>A	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1577A>T	5.37:g.98232063T>A	ENSP00000284049:p.Glu526Val						p.E526V	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	11	1726	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	526			Helicase ATP-binding.		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.1577A>T	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.738290	0.49045	.	.	ENSG00000153922	ENST00000284049	D	0.93604	-3.25	5.12	5.12	0.69794	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.34411	U	0.003997	D	0.86777	0.6014	N	0.12569	0.235	0.80722	D	1	B	0.20988	0.05	B	0.24701	0.055	T	0.82748	-0.0304	10	0.27785	T	0.31	.	15.2078	0.73192	0.0:0.0:0.0:1.0	.	526	O14646	CHD1_HUMAN	V	526	ENSP00000284049:E526V	ENSP00000284049:E526V	E	-	2	0	CHD1	98259963	1.000000	0.71417	0.975000	0.42487	0.901000	0.52897	7.628000	0.83189	2.052000	0.61016	0.477000	0.44152	GAA		0.368	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		28	134	0	0	0	1	0	28	134				
FAN1	22909	broad.mit.edu	37	15	31221508	31221508	+	Missense_Mutation	SNP	C	C	T	rs145217832		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr15:31221508C>T	ENST00000362065.4	+	12	2986	c.2695C>T	c.(2695-2697)Cgg>Tgg	p.R899W	FAN1_ENST00000568145.1_3'UTR|RP11-540B6.6_ENST00000602886.1_RNA	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	899	VRR-NUC.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GGAGAGCCTGCGGGCCTGGGT	0.602								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(2695-2697)Cgg>Tgg	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1		C	TRP/ARG	0,4404		0,0,2202	123.0	122.0	122.0		2695	0.6	0.2	15	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAN1	NM_014967.4	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	899/1018	31221508	1,13003	2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31221508C>T		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2695C>T	15.37:g.31221508C>T	ENSP00000354497:p.Arg899Trp					FAN1_ENST00000568145.1_3'UTR	p.R899W	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			12	2986	+			899			VRR-NUC.		A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.2695C>T	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	C	9.993	1.231242	0.22626	0.0	1.16E-4	ENSG00000198690	ENST00000362065	D	0.86097	-2.07	5.39	0.643	0.17770	VRR-NUC (1);	1.057540	0.07316	N	0.876812	D	0.87943	0.6305	M	0.73372	2.23	0.44652	D	0.99763	D;P	0.89917	1.0;0.455	P;B	0.59703	0.862;0.12	T	0.81369	-0.0964	10	0.66056	D	0.02	-1.4087	1.8145	0.03097	0.1507:0.425:0.2104:0.2139	.	899;899	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	W	899	ENSP00000354497:R899W	ENSP00000354497:R899W	R	+	1	2	FAN1	29008800	0.002000	0.14202	0.238000	0.24106	0.165000	0.22458	-0.048000	0.11944	0.334000	0.23590	0.650000	0.86243	CGG		0.602	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		4	245	0	0	0	1	0	4	245				
CAPRIN2	65981	broad.mit.edu	37	12	30906347	30906347	+	Silent	SNP	C	C	T	rs151080170	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr12:30906347C>T	ENST00000395805.2	-	1	898	c.351G>A	c.(349-351)gcG>gcA	p.A117A	CAPRIN2_ENST00000417045.1_Silent_p.A117A|CAPRIN2_ENST00000308433.5_5'UTR|RP11-77I22.2_ENST00000500076.2_lincRNA|CAPRIN2_ENST00000251071.5_Silent_p.A117A|CAPRIN2_ENST00000298892.5_Silent_p.A117A	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGGTCTCATACGCTTGGGAAG	0.468											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(349-351)gcG>gcA		caprin family member 2		C	,,,	7,4399	12.9+/-30.5	0,7,2196	100.0	103.0	102.0		351,351,351,351	-10.7	0.9	12	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CAPRIN2	NM_001002259.1,NM_001206856.1,NM_023925.3,NM_032156.3	,,,	0,8,6495	TT,TC,CC		0.0116,0.1589,0.0615	,,,	117/1128,117/906,117/1078,117/961	30906347	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30906347C>T	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.351G>A	12.37:g.30906347C>T			OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	820	CAPRIN2_ENST00000417045.1_Silent_p.A117A|CAPRIN2_ENST00000298892.5_Silent_p.A117A|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000395805.2_Silent_p.A117A	p.A117A	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			1	1101	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		117						Silent	SNP	ENST00000395805.2	37	c.351G>A	CCDS55816.1																																																																																				0.468	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		90	179	0	0	0	1	0	90	179				
CDCP1	64866	broad.mit.edu	37	3	45134906	45134906	+	Missense_Mutation	SNP	G	G	A	rs374678265		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr3:45134906G>A	ENST00000296129.1	-	6	1624	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	497	CUB.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CGGGCAGAAGGAGCCGAAGTA	0.597																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(1489-1491)tCc>tTc		CUB domain containing protein 1		G	PHE/SER	0,4406		0,0,2203	93.0	84.0	87.0		1490	-0.7	1.0	3		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDCP1	NM_022842.3	155	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	497/837	45134906	1,13005	2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45134906G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1490C>T	3.37:g.45134906G>A	ENSP00000296129:p.Ser497Phe						p.S497F	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	6	1624	-			497			CUB.		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.1490C>T	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	G	2.031	-0.422385	0.04734	0.0	1.16E-4	ENSG00000163814	ENST00000296129	T	0.24538	1.85	5.7	-0.705	0.11252	.	0.879352	0.10399	N	0.679357	T	0.14570	0.0352	L	0.36672	1.1	0.54753	D	0.999986	B	0.06786	0.001	B	0.08055	0.003	T	0.28299	-1.0048	10	0.09843	T	0.71	.	4.2712	0.10787	0.2919:0.0:0.2435:0.4645	.	497	Q9H5V8	CDCP1_HUMAN	F	497	ENSP00000296129:S497F	ENSP00000296129:S497F	S	-	2	0	CDCP1	45109910	0.079000	0.21365	0.968000	0.41197	0.232000	0.25224	0.104000	0.15313	-0.135000	0.11495	-1.036000	0.02392	TCC		0.597	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		37	80	0	0	0	1	0	37	80				
GSTA2	2939	broad.mit.edu	37	6	52616504	52616504	+	Silent	SNP	G	G	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:52616504G>T	ENST00000493422.1	-	6	572	c.417C>A	c.(415-417)gtC>gtA	p.V139V		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	139	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	GGCTCTTTAAGACCTGGAGAA	0.542																																						ENST00000493422.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(415-417)gtC>gtA		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						125.0	112.0	116.0					6																	52616504		2203	4300	6503	SO:0001819	synonymous_variant	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52616504G>T	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.417C>A	6.37:g.52616504G>T							p.V139V	NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN			6	572	-	Lung NSC(77;0.118)		139			GST C-terminal.		Q12759|Q16491|Q9NTY6	Silent	SNP	ENST00000493422.1	37	c.417C>A	CCDS4944.1																																																																																				0.542	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		83	129	1	0	7.49063e-41	1	8.16287e-41	83	129				
C9orf47	286223	broad.mit.edu	37	9	91606803	91606803	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:91606803G>A	ENST00000334490.5	+	3	577	c.509G>A	c.(508-510)cGc>cAc	p.R170H	C9orf47_ENST00000375851.2_Missense_Mutation_p.R151H|C9orf47_ENST00000375850.3_Missense_Mutation_p.R203H|S1PR3_ENST00000358157.2_Intron			Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	170						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						CTTTTCCACCGCACCCGGAGC	0.617																																						ENST00000375851.2																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						c.(451-453)cGc>cAc		chromosome 9 open reading frame 47							66.0	63.0	64.0					9																	91606803		2203	4300	6503	SO:0001583	missense	286223					extracellular region		g.chr9:91606803G>A	AK094842	CCDS35062.1, CCDS47989.1	9q22.1	2008-02-05	2004-11-04		ENSG00000186354	ENSG00000186354			23669	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 108"""	C9orf108			Standard	NM_001001938		Approved	FLJ37523, bA791O21.3	uc004aqc.2	Q6ZRZ4	OTTHUMG00000020172	ENST00000334490.5:c.509G>A	9.37:g.91606803G>A	ENSP00000335616:p.Arg170His					S1PR3_ENST00000358157.2_Intron|C9orf47_ENST00000334490.5_Missense_Mutation_p.R170H|C9orf47_ENST00000375850.3_Missense_Mutation_p.R203H	p.R151H	NM_001001938.3|NM_001142413.1	NP_001001938.1|NP_001135885.1	Q6ZRZ4	CI047_HUMAN			3	585	+			170					B7ZMC7|Q5SQD7|Q7Z568|Q8N1V4	Missense_Mutation	SNP	ENST00000334490.5	37	c.452G>A	CCDS35062.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860905	0.32884	.	.	ENSG00000186354	ENST00000375851;ENST00000375850;ENST00000334490	.	.	.	2.63	-2.72	0.05968	.	.	.	.	.	T	0.16385	0.0394	N	0.08118	0	0.09310	N	0.99999	B;B	0.26400	0.148;0.148	B;B	0.11329	0.006;0.006	T	0.16335	-1.0406	8	0.87932	D	0	.	7.8615	0.29511	0.4064:0.0:0.5936:0.0	.	170;151	Q6ZRZ4;Q6ZRZ4-2	CI047_HUMAN;.	H	151;203;170	.	ENSP00000335616:R170H	R	+	2	0	C9orf47	90796623	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.598000	0.05706	-0.665000	0.05317	-0.378000	0.06908	CGC		0.617	C9orf47-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355972.1	NM_182599		4	86	0	0	0	1	0	4	86				
NKRF	55922	broad.mit.edu	37	X	118725078	118725078	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:118725078A>T	ENST00000371527.1	-	2	962	c.310T>A	c.(310-312)Tct>Act	p.S104T	NKRF_ENST00000304449.5_Missense_Mutation_p.S104T|NKRF_ENST00000487600.1_5'UTR|NKRF_ENST00000542113.1_Missense_Mutation_p.S119T	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	104	Active repression domain.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						ATACTGAAAGAGTCTTGAGTA	0.393																																						ENST00000371527.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(310-312)Tct>Act		NFKB repressing factor							132.0	113.0	120.0					X																	118725078		2203	4300	6503	SO:0001583	missense	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118725078A>T	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.310T>A	X.37:g.118725078A>T	ENSP00000360582:p.Ser104Thr					NKRF_ENST00000487600.1_5'UTR|NKRF_ENST00000304449.5_Missense_Mutation_p.S104T|NKRF_ENST00000542113.1_Missense_Mutation_p.S119T	p.S104T	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	962	-			104			Active repression domain.		G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	c.310T>A	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	A	0.751	-0.772719	0.02951	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.44881	0.92;0.92;0.91	4.54	3.26	0.37387	.	0.626320	0.16137	N	0.227904	T	0.21718	0.0523	N	0.08118	0	0.37389	D	0.912359	B	0.20261	0.043	B	0.17098	0.017	T	0.11891	-1.0569	10	0.33141	T	0.24	-14.0421	8.9395	0.35720	0.8317:0.0:0.0:0.1683	.	104	O15226	NKRF_HUMAN	T	104;104;119	ENSP00000360582:S104T;ENSP00000304803:S104T;ENSP00000442308:S119T	ENSP00000304803:S104T	S	-	1	0	NKRF	118609106	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.070000	0.50033	1.746000	0.51805	0.412000	0.27726	TCT		0.393	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		7	230	0	0	0	1	0	7	230				
CLCNKB	1188	broad.mit.edu	37	1	16375046	16375046	+	Silent	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:16375046C>T	ENST00000375679.4	+	7	735	c.624C>T	c.(622-624)ggC>ggT	p.G208G	CLCNKB_ENST00000375667.3_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	208					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCAGTGGGCGTGGCCACAG	0.657																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.(622-624)ggC>ggT		chloride channel, voltage-sensitive Kb							35.0	39.0	38.0					1																	16375046		2203	4298	6501	SO:0001819	synonymous_variant	1188							g.chr1:16375046C>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.624C>T	1.37:g.16375046C>T							p.G208G	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	7	735	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.624C>T	CCDS168.1																																																																																				0.657	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		21	50	0	0	0	1	0	21	50				
GALNT14	79623	broad.mit.edu	37	2	31167747	31167747	+	Silent	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:31167747G>A	ENST00000349752.5	-	8	1443	c.804C>T	c.(802-804)cgC>cgT	p.R268R	GALNT14_ENST00000406653.1_Silent_p.R248R|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Silent_p.R235R|GALNT14_ENST00000420311.2_Silent_p.R233R|GALNT14_ENST00000324589.5_Silent_p.R273R	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	268					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGGGGTCCAGGCGCCGAGCCT	0.587																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(802-804)cgC>cgT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							63.0	63.0	63.0					2																	31167747		2203	4300	6503	SO:0001819	synonymous_variant	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31167747G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.804C>T	2.37:g.31167747G>A						GALNT14_ENST00000324589.5_Silent_p.R273R|GALNT14_ENST00000356174.3_Silent_p.R235R|GALNT14_ENST00000420311.2_Silent_p.R233R|GALNT14_ENST00000406653.1_Silent_p.R248R|GALNT14_ENST00000486564.1_5'UTR	p.R268R	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			8	1443	-	Acute lymphoblastic leukemia(172;0.155)		268					B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	ENST00000349752.5	37	c.804C>T	CCDS1773.2																																																																																				0.587	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		38	73	0	0	0	1	0	38	73				
TACR3	6870	broad.mit.edu	37	4	104640397	104640397	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr4:104640397C>G	ENST00000304883.2	-	1	576	c.436G>C	c.(436-438)Gcg>Ccg	p.A146P		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	146					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CTATGAAGCGCGTAGATGAAA	0.532																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(436-438)Gcg>Ccg		tachykinin receptor 3							105.0	96.0	99.0					4																	104640397		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640397C>G	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.436G>C	4.37:g.104640397C>G	ENSP00000303325:p.Ala146Pro						p.A146P	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	576	-		Hepatocellular(203;0.217)	146					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.436G>C	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866399	0.91511	.	.	ENSG00000169836	ENST00000304883	T	0.39056	1.1	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.123056	0.56097	D	0.000040	T	0.66268	0.2772	M	0.79258	2.445	0.53005	D	0.99996	D	0.76494	0.999	D	0.70716	0.97	T	0.69957	-0.5004	10	0.62326	D	0.03	.	17.8687	0.88804	0.0:1.0:0.0:0.0	.	146	P29371	NK3R_HUMAN	P	146	ENSP00000303325:A146P	ENSP00000303325:A146P	A	-	1	0	TACR3	104859846	1.000000	0.71417	0.993000	0.49108	0.909000	0.53808	7.455000	0.80726	2.446000	0.82766	0.591000	0.81541	GCG		0.532	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		38	62	0	0	0	1	0	38	62				
CCDC180	100499483	broad.mit.edu	37	9	100077190	100077190	+	Missense_Mutation	SNP	C	C	T	rs200220636		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:100077190C>T	ENST00000357054.1	+	22	2241	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.R297W|CCDC180_ENST00000529487.1_Missense_Mutation_p.R297W|CCDC180_ENST00000395220.1_Missense_Mutation_p.R436W|CCDC180_ENST00000411667.2_Missense_Mutation_p.R294W|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	436						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CTACCTCATGCGGCCCGAAGT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		19493	0.0		0.001	False		,,,				2504	0.0					ENST00000375202.2																			0											c.(889-891)Cgg>Tgg		coiled-coil domain containing 180		C	TRP/ARG	0,4406		0,0,2203	90.0	85.0	87.0		889	3.9	1.0	9		87	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C9orf174	NM_020893.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	297/1702	100077190	1,13005	2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100077190C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1306C>T	9.37:g.100077190C>T	ENSP00000349562:p.Arg436Trp					CCDC180_ENST00000411667.2_Missense_Mutation_p.R294W|CCDC180_ENST00000529487.1_Missense_Mutation_p.R297W|CCDC180_ENST00000395220.1_Missense_Mutation_p.R436W|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.R436W	p.R297W							22	2241	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.889C>T		.	.	.	.	.	.	.	.	.	.	C	12.92	2.082601	0.36758	0.0	1.16E-4	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.85	3.93	0.45458	.	0.811347	0.11165	N	0.592605	T	0.30696	0.0773	N	0.22421	0.69	0.24609	N	0.99374	D;D;D;D	0.76494	0.999;0.997;0.997;0.997	P;P;P;P	0.59948	0.866;0.627;0.627;0.627	T	0.10428	-1.0630	10	0.72032	D	0.01	-14.6815	7.707	0.28657	0.1793:0.7346:0.0:0.0861	.	294;436;297;436	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	W	436;436;297;294;320;297	ENSP00000349562:R436W;ENSP00000378646:R436W;ENSP00000364348:R297W;ENSP00000414000:R294W;ENSP00000434727:R297W	ENSP00000349562:R436W	R	+	1	2	C9orf174	99117011	0.773000	0.28580	0.974000	0.42286	0.264000	0.26372	1.891000	0.39738	1.555000	0.49500	0.655000	0.94253	CGG		0.493	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		4	161	0	0	0	1	0	4	161				
ANO3	63982	broad.mit.edu	37	11	26463524	26463524	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:26463524T>C	ENST00000256737.3	+	2	958	c.106T>C	c.(106-108)Tcc>Ccc	p.S36P	ANO3_ENST00000537978.1_Missense_Mutation_p.S20P|ANO3_ENST00000525139.1_Missense_Mutation_p.S20P|ANO3_ENST00000531646.1_Missense_Mutation_p.S36P	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	36					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GTCTCGGAGATCCCTGCCTTG	0.438																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(106-108)Tcc>Ccc		anoctamin 3							143.0	147.0	146.0					11																	26463524		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26463524T>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.106T>C	11.37:g.26463524T>C	ENSP00000256737:p.Ser36Pro					ANO3_ENST00000537978.1_Missense_Mutation_p.S20P|ANO3_ENST00000525139.1_Missense_Mutation_p.S20P|ANO3_ENST00000531646.1_Missense_Mutation_p.S36P	p.S36P	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			2	958	+			36					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.106T>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146729	0.77888	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.24	5.24	0.73138	.	0.141593	0.49916	D	0.000123	T	0.66247	0.2770	N	0.24115	0.695	0.47407	D	0.999418	D	0.71674	0.998	D	0.75484	0.986	T	0.69712	-0.5071	10	0.66056	D	0.02	.	12.0981	0.53767	0.0:0.0:0.0:1.0	.	36	Q9BYT9	ANO3_HUMAN	P	20;20;36;36	ENSP00000440737:S20P;ENSP00000432576:S20P;ENSP00000256737:S36P;ENSP00000435275:S36P	ENSP00000256737:S36P	S	+	1	0	ANO3	26420100	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.281000	0.58965	2.284000	0.76573	0.528000	0.53228	TCC		0.438	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		117	153	0	0	0	1	0	117	153				
NT5DC1	221294	broad.mit.edu	37	6	116544280	116544280	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:116544280C>T	ENST00000319550.4	+	8	870	c.788C>T	c.(787-789)cCt>cTt	p.P263L		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	263							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AGTCAGAGACCTTTCCGGACA	0.398																																					Colon(128;1440 1664 38087 41475 42869)	ENST00000319550.4																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8						c.(787-789)cCt>cTt		5'-nucleotidase domain containing 1							123.0	120.0	121.0					6																	116544280		2203	4300	6503	SO:0001583	missense	221294						hydrolase activity|metal ion binding	g.chr6:116544280C>T	BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.788C>T	6.37:g.116544280C>T	ENSP00000326858:p.Pro263Leu						p.P263L	NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)	8	870	+		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)	263					B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	ENST00000319550.4	37	c.788C>T	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113423	0.56398	.	.	ENSG00000178425	ENST00000319550	T	0.25912	1.77	4.87	3.99	0.46301	HAD-like domain (1);	0.114194	0.64402	D	0.000010	T	0.19208	0.0461	L	0.61387	1.9	0.80722	D	1	B;P;P	0.37398	0.345;0.593;0.473	B;P;B	0.44477	0.429;0.451;0.283	T	0.02365	-1.1170	10	0.19590	T	0.45	-8.3972	12.506	0.55981	0.0:0.9174:0.0:0.0826	.	213;263;263	B3KR35;A8K2Z3;Q5TFE4	.;.;NT5D1_HUMAN	L	263	ENSP00000326858:P263L	ENSP00000326858:P263L	P	+	2	0	NT5DC1	116650973	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.131000	0.57970	2.271000	0.75665	0.555000	0.69702	CCT		0.398	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729		77	152	0	0	0	1	0	77	152				
TRPV1	7442	broad.mit.edu	37	17	3470222	3470222	+	Nonsense_Mutation	SNP	G	G	A	rs202102886		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:3470222G>A	ENST00000571088.1	-	16	2620	c.2407C>T	c.(2407-2409)Cga>Tga	p.R803*	TRPV1_ENST00000399756.4_Nonsense_Mutation_p.R803*|TRPV1_ENST00000425167.2_Nonsense_Mutation_p.R814*|TRPV1_ENST00000399759.3_Nonsense_Mutation_p.R803*|TRPV1_ENST00000576351.1_Nonsense_Mutation_p.R793*|SHPK_ENST00000572705.1_Nonsense_Mutation_p.R803*|TRPV1_ENST00000174621.6_Nonsense_Mutation_p.R801*|TRPV1_ENST00000310522.5_Nonsense_Mutation_p.R743*	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	803					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TGCCTATCTCGAGCACTTGCC	0.507																																					Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(2401-2403)Cga>Tga		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						41.0	43.0	42.0					17																	3470222		1948	4143	6091	SO:0001587	stop_gained	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3470222G>A	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.2407C>T	17.37:g.3470222G>A	ENSP00000461007:p.Arg803*					TRPV1_ENST00000425167.2_Nonsense_Mutation_p.R814*|TRPV1_ENST00000310522.5_Nonsense_Mutation_p.R743*|TRPV1_ENST00000399756.4_Nonsense_Mutation_p.R803*|SHPK_ENST00000572705.1_Nonsense_Mutation_p.R803*|TRPV1_ENST00000571088.1_Nonsense_Mutation_p.R803*|TRPV1_ENST00000576351.1_Nonsense_Mutation_p.R793*|TRPV1_ENST00000399759.3_Nonsense_Mutation_p.R803*	p.R801*			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	15	2690	-			803			Interaction with calmodulin (By similarity).		A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Nonsense_Mutation	SNP	ENST00000571088.1	37	c.2401C>T	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	G	37	6.200965	0.97371	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	.	.	.	5.07	4.09	0.47781	.	0.283622	0.25768	N	0.028430	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3957	11.3076	0.49345	0.0:0.0:0.8051:0.1949	.	.	.	.	X	803;803;801;814;743	.	ENSP00000174621:R801X	R	-	1	2	TRPV1	3416972	1.000000	0.71417	0.897000	0.35233	0.083000	0.17756	2.507000	0.45442	1.407000	0.46875	0.655000	0.94253	CGA		0.507	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		8	68	0	0	0	1	0	8	68				
SLC18A1	6570	broad.mit.edu	37	8	20038418	20038418	+	Missense_Mutation	SNP	G	G	A	rs201099277		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:20038418G>A	ENST00000276373.5	-	2	324	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	SLC18A1_ENST00000519026.1_Missense_Mutation_p.R20W|SLC18A1_ENST00000437980.1_Missense_Mutation_p.R20W|SLC18A1_ENST00000381608.4_Missense_Mutation_p.R20W|SLC18A1_ENST00000440926.1_Missense_Mutation_p.R20W|SLC18A1_ENST00000265808.7_Missense_Mutation_p.R20W	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	20					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	ACCAGCTGCCGGGACGCTCTC	0.587																																						ENST00000440926.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(58-60)Cgg>Tgg		solute carrier family 18 (vesicular monoamine transporter), member 1							108.0	85.0	93.0					8																	20038418		2203	4300	6503	SO:0001583	missense	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20038418G>A		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.58C>T	8.37:g.20038418G>A	ENSP00000276373:p.Arg20Trp					SLC18A1_ENST00000276373.5_Missense_Mutation_p.R20W|SLC18A1_ENST00000437980.1_Missense_Mutation_p.R20W|SLC18A1_ENST00000519026.1_Missense_Mutation_p.R20W|SLC18A1_ENST00000381608.4_Missense_Mutation_p.R20W|SLC18A1_ENST00000265808.7_Missense_Mutation_p.R20W	p.R20W	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	3	528	-			20					E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	c.58C>T	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462604	0.63513	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608;ENST00000522513	D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.71	3.84	0.44239	Major facilitator superfamily domain, general substrate transporter (1);	0.055622	0.64402	D	0.000001	D	0.91868	0.7426	M	0.90369	3.11	0.36058	D	0.84121	D;D;D	0.89917	1.0;0.999;0.999	D;P;D	0.76071	0.987;0.887;0.924	D	0.94485	0.7696	10	0.87932	D	0	-4.3532	12.8384	0.57786	0.0:0.0:0.7039:0.2961	.	20;20;20	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	W	20	ENSP00000265808:R20W;ENSP00000276373:R20W;ENSP00000387549:R20W;ENSP00000413361:R20W;ENSP00000429664:R20W;ENSP00000371021:R20W;ENSP00000428999:R20W	ENSP00000265808:R20W	R	-	1	2	SLC18A1	20082698	0.989000	0.36119	0.911000	0.35937	0.622000	0.37654	2.328000	0.43867	0.695000	0.31675	0.655000	0.94253	CGG		0.587	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			20	21	0	0	0	1	0	20	21				
DNAH2	146754	broad.mit.edu	37	17	7663221	7663221	+	Missense_Mutation	SNP	G	G	A	rs372631936		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:7663221G>A	ENST00000572933.1	+	17	4210	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R917H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	917	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCACCAAGCGCAAGTTACAT	0.562																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(2749-2751)cGc>cAc		dynein, axonemal, heavy chain 2		G	HIS/ARG	0,4406		0,0,2203	296.0	272.0	280.0		2750	3.2	1.0	17		280	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH2	NM_020877.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	917/4428	7663221	1,13005	2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7663221G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2750G>A	17.37:g.7663221G>A	ENSP00000458355:p.Arg917His					DNAH2_ENST00000389173.2_Missense_Mutation_p.R917H	p.R917H			Q9P225	DYH2_HUMAN			17	4210	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	917			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.2750G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	9.521	1.108362	0.20714	0.0	1.16E-4	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.23754	1.89	5.35	3.25	0.37280	.	0.207319	0.34853	N	0.003628	T	0.16685	0.0401	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.06552	-1.0820	10	0.44086	T	0.13	.	5.712	0.17941	0.1642:0.0:0.6781:0.1576	.	917	Q9P225	DYH2_HUMAN	H	917	ENSP00000373825:R917H	ENSP00000353818:R917H	R	+	2	0	DNAH2	7603946	0.821000	0.29204	1.000000	0.80357	0.183000	0.23260	1.940000	0.40223	1.284000	0.44531	-0.320000	0.08662	CGC		0.562	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	501	0	0	0	1	0	5	501				
PCSK2	5126	broad.mit.edu	37	20	17437095	17437095	+	Splice_Site	SNP	T	T	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:17437095T>A	ENST00000262545.2	+	10	1517		c.e10+2		PCSK2_ENST00000377899.1_Splice_Site|PCSK2_ENST00000536609.1_Splice_Site	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2						cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGAGGCTAAGTATGTTCATAG	0.557																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.e10+2		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						99.0	98.0	98.0					20																	17437095		2203	4300	6503	SO:0001630	splice_region_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17437095T>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1202+2T>A	20.37:g.17437095T>A						PCSK2_ENST00000536609.1_Splice_Site|PCSK2_ENST00000377899.1_Splice_Site		NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			10	1517	+								B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Splice_Site	SNP	ENST00000262545.2	37		CCDS13125.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.009055	0.93346	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1976	0.73104	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCSK2	17385095	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.964000	0.87933	2.273000	0.75805	0.482000	0.46254	.		0.557	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	Intron	15	191	0	0	0	1	0	15	191				
FRG1B	284802	broad.mit.edu	37	20	29623206	29623206	+	Silent	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:29623206C>T	ENST00000278882.3	+	3	398	c.18C>T	c.(16-18)taC>taT	p.Y6Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H8Y|FRG1B_ENST00000358464.4_Silent_p.Y6Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	6										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AACCTATATACATGCACTCGA	0.393																																						ENST00000439954.2																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(22-24)Cat>Tat																																						SO:0001819	synonymous_variant	0							g.chr20:29623206C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.18C>T	20.37:g.29623206C>T						FRG1B_ENST00000358464.4_Silent_p.Y6Y|FRG1B_ENST00000278882.3_Silent_p.Y6Y	p.H8Y							3	368	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.22C>T		.	.	.	.	.	.	.	.	.	.	c	0.007	-1.997367	0.00435	.	.	ENSG00000149531	ENST00000439954	T	0.42900	0.96	1.93	0.956	0.19608	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15694	-1.0428	5	.	.	.	.	7.7351	0.28810	0.2519:0.748:0.0:0.0	.	.	.	.	Y	8	ENSP00000408863:H8Y	.	H	+	1	0	FRG1B	28236867	1.000000	0.71417	0.970000	0.41538	0.072000	0.16883	3.799000	0.55529	0.383000	0.24910	-0.526000	0.04340	CAT		0.393	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		10	1276	0	0	0	1	0	10	1276				
CERS6	253782	broad.mit.edu	37	2	169626053	169626053	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:169626053A>G	ENST00000305747.6	+	10	1623	c.1036A>G	c.(1036-1038)Agc>Ggc	p.S346G	CERS6_ENST00000392687.4_Missense_Mutation_p.S354G|CERS6-AS1_ENST00000425636.2_RNA	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	346					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TATTGAGTCTAGCTCAGATGA	0.502																																						ENST00000305747.6																			0											c.(1036-1038)Agc>Ggc		ceramide synthase 6							114.0	109.0	111.0					2																	169626053		2203	4300	6503	SO:0001583	missense	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169626053A>G	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.1036A>G	2.37:g.169626053A>G	ENSP00000306579:p.Ser346Gly					CERS6_ENST00000392687.4_Missense_Mutation_p.S354G	p.S346G	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN			10	1623	+			346					Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.1036A>G	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.531797	0.85706	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	T;T	0.13089	2.82;2.62	5.97	5.97	0.96955	.	0.117031	0.85682	D	0.000000	T	0.22627	0.0546	M	0.78344	2.41	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.01472	-1.1346	10	0.52906	T	0.07	-4.471	16.43	0.83839	1.0:0.0:0.0:0.0	.	354;346	Q32M63;Q6ZMG9	.;CERS6_HUMAN	G	346;354	ENSP00000306579:S346G;ENSP00000376453:S354G	ENSP00000306579:S346G	S	+	1	0	CERS6	169334299	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.932000	0.75869	2.283000	0.76528	0.533000	0.62120	AGC		0.502	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		21	144	0	0	0	1	0	21	144				
CCR6	1235	broad.mit.edu	37	6	167550306	167550306	+	Silent	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:167550306C>T	ENST00000341935.5	+	3	1140	c.588C>T	c.(586-588)gtC>gtT	p.V196V	CCR6_ENST00000349984.4_Silent_p.V196V|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Silent_p.V196V	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	196					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GCAGCGATGTCTGTGAACCCA	0.483																																						ENST00000341935.5																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14						c.(586-588)gtC>gtT		chemokine (C-C motif) receptor 6							120.0	107.0	111.0					6																	167550306		2203	4300	6503	SO:0001819	synonymous_variant	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167550306C>T	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.588C>T	6.37:g.167550306C>T						CCR6_ENST00000400926.2_Silent_p.V196V|CCR6_ENST00000349984.4_Silent_p.V196V	p.V196V	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	3	1140	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	196					E1P5C6|P78553|Q92846	Silent	SNP	ENST00000341935.5	37	c.588C>T	CCDS5298.1																																																																																				0.483	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			6	153	0	0	0	1	0	6	153				
BCAM	4059	broad.mit.edu	37	19	45322335	45322335	+	Silent	SNP	G	G	A	rs79447398	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr19:45322335G>A	ENST00000270233.6	+	11	1381	c.1359G>A	c.(1357-1359)gcG>gcA	p.A453A	BCAM_ENST00000589651.1_Silent_p.A453A	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	453	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)	p.A453A(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TAAAGACAGCGGAAATAGAGC	0.582													G|||	10	0.00199681	0.0	0.0	5008	,	,		15803	0.0099		0.0	False		,,,				2504	0.0					ENST00000391955.1																			1	Substitution - coding silent(1)	p.A453A(1)	central_nervous_system(1)	central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1357-1359)gcG>gcA		basal cell adhesion molecule (Lutheran blood group)		G	,	1,4405		0,1,2202	138.0	159.0	152.0		1359,1359	-4.3	0.0	19	dbSNP_131	152	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BCAM	NM_001013257.1,NM_005581.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	453/589,453/629	45322335	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45322335G>A	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1359G>A	19.37:g.45322335G>A						BCAM_ENST00000270233.6_Silent_p.A453A	p.A453A			P50895	BCAM_HUMAN			11	1403	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	453			Ig-like C2-type 3.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Silent	SNP	ENST00000270233.6	37	c.1359G>A	CCDS12644.1																																																																																				0.582	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		4	192	0	0	0	1	0	4	192				
RP1	6101	broad.mit.edu	37	8	55537675	55537675	+	Silent	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:55537675A>G	ENST00000220676.1	+	4	1381	c.1233A>G	c.(1231-1233)caA>caG	p.Q411Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	411					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAAACATTCAAATGACAGATC	0.453																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(1231-1233)caA>caG		retinitis pigmentosa 1 (autosomal dominant)							97.0	97.0	97.0					8																	55537675		2203	4300	6503	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537675A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1233A>G	8.37:g.55537675A>G							p.Q411Q	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1381	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	411						Silent	SNP	ENST00000220676.1	37	c.1233A>G	CCDS6160.1																																																																																				0.453	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		4	111	0	0	0	1	0	4	111				
FAM134C	162427	broad.mit.edu	37	17	40761319	40761319	+	Silent	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:40761319G>A	ENST00000309428.5	-	1	83	c.24C>T	c.(22-24)ccC>ccT	p.P8P	FAM134C_ENST00000585894.1_Intron|TUBG1_ENST00000251413.3_5'Flank|FAM134C_ENST00000543197.1_5'UTR	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	8						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CTGGGGTCGTGGGAACCCCTT	0.687																																						ENST00000309428.5																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(22-24)ccC>ccT		family with sequence similarity 134, member C							17.0	23.0	21.0					17																	40761319		2120	4188	6308	SO:0001819	synonymous_variant	162427					integral to membrane		g.chr17:40761319G>A	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.24C>T	17.37:g.40761319G>A						FAM134C_ENST00000585894.1_Intron|FAM134C_ENST00000543197.1_5'UTR	p.P8P	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	1	83	-		Breast(137;0.00116)	8					B3KR75	Silent	SNP	ENST00000309428.5	37	c.24C>T	CCDS11432.1																																																																																				0.687	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		37	55	0	0	0	1	0	37	55				
DYNC1I2	1781	broad.mit.edu	37	2	172585349	172585349	+	Silent	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:172585349C>T	ENST00000397119.3	+	14	1547	c.1380C>T	c.(1378-1380)tgC>tgT	p.C460C	DYNC1I2_ENST00000263811.4_Silent_p.C454C|DYNC1I2_ENST00000409317.1_Silent_p.C454C|DYNC1I2_ENST00000410079.3_Silent_p.C452C|DYNC1I2_ENST00000358002.6_Silent_p.C452C|DYNC1I2_ENST00000409453.1_Silent_p.C460C|DYNC1I2_ENST00000409773.1_Silent_p.C460C|DYNC1I2_ENST00000409197.1_Silent_p.C434C|DYNC1I2_ENST00000534253.2_Silent_p.C460C|DYNC1I2_ENST00000340296.4_Silent_p.C434C|DYNC1I2_ENST00000508530.1_Silent_p.C434C	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	460					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ACACAGCATGCCGCCATGGCA	0.388																																						ENST00000534253.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15						c.(1378-1380)tgC>tgT		dynein, cytoplasmic 1, intermediate chain 2							73.0	66.0	68.0					2																	172585349		1866	4112	5978	SO:0001819	synonymous_variant	1781				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	g.chr2:172585349C>T	AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1380C>T	2.37:g.172585349C>T						DYNC1I2_ENST00000409453.1_Silent_p.C460C|DYNC1I2_ENST00000409197.1_Silent_p.C434C|DYNC1I2_ENST00000358002.6_Silent_p.C452C|DYNC1I2_ENST00000397119.3_Silent_p.C460C|DYNC1I2_ENST00000508530.1_Silent_p.C434C|DYNC1I2_ENST00000409317.1_Silent_p.C454C|DYNC1I2_ENST00000410079.3_Silent_p.C452C|DYNC1I2_ENST00000409773.1_Silent_p.C460C|DYNC1I2_ENST00000263811.4_Silent_p.C454C|DYNC1I2_ENST00000340296.4_Silent_p.C434C	p.C460C			Q13409	DC1I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.198)		14	1548	+			460					B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Silent	SNP	ENST00000397119.3	37	c.1380C>T	CCDS46450.1																																																																																				0.388	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378		3	35	0	0	0	1	0	3	35				
SLC25A5	292	broad.mit.edu	37	X	118602491	118602491	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:118602491G>A	ENST00000317881.8	+	1	129	c.13G>A	c.(13-15)Gct>Act	p.A5T	SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	5					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GACAGATGCCGCTGTGTCCTT	0.647																																						ENST00000317881.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12						c.(13-15)Gct>Act		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	Clodronate(DB00720)						23.0	21.0	22.0					X																	118602491		2201	4300	6501	SO:0001583	missense	292				chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding	g.chrX:118602491G>A	BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"""Solute carriers"""	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.13G>A	X.37:g.118602491G>A	ENSP00000360671:p.Ala5Thr					SLC25A5-AS1_ENST00000395539.2_RNA	p.A5T	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN			1	129	+			5					B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	c.13G>A	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608118	0.46527	.	.	ENSG00000005022	ENST00000317881	T	0.78364	-1.17	3.15	2.29	0.28610	Mitochondrial carrier domain (1);	0.121726	0.53938	N	0.000042	T	0.65575	0.2704	L	0.37697	1.125	0.58432	D	0.999995	B	0.06786	0.001	B	0.08055	0.003	T	0.59595	-0.7425	10	0.41790	T	0.15	.	9.3982	0.38415	0.1139:0.0:0.8861:0.0	.	5	P05141	ADT2_HUMAN	T	5	ENSP00000360671:A5T	ENSP00000360671:A5T	A	+	1	0	SLC25A5	118486519	1.000000	0.71417	0.998000	0.56505	0.680000	0.39746	3.707000	0.54838	0.725000	0.32318	0.538000	0.68166	GCT		0.647	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		10	23	0	0	0	1	0	10	23				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	175	0	0	0	1	0	9	175				
GRID1	2894	broad.mit.edu	37	10	87898634	87898634	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr10:87898634G>A	ENST00000327946.7	-	4	753	c.668C>T	c.(667-669)aCg>aTg	p.T223M		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	223					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GCGGCGAAGCGTGTCCCGGTA	0.587										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(667-669)aCg>aTg		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						183.0	156.0	165.0					10																	87898634		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87898634G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.668C>T	10.37:g.87898634G>A	ENSP00000330148:p.Thr223Met	Multiple Myeloma(13;0.14)					p.T223M	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			4	753	-			223					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.668C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.244495	0.79912	.	.	ENSG00000182771	ENST00000327946	D	0.83914	-1.78	5.17	5.17	0.71159	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89238	0.6658	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	D	0.90275	0.4310	10	0.72032	D	0.01	.	17.6915	0.88269	0.0:0.0:1.0:0.0	.	223	Q9ULK0	GRID1_HUMAN	M	223	ENSP00000330148:T223M	ENSP00000330148:T223M	T	-	2	0	GRID1	87888614	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.753000	0.98904	2.413000	0.81919	0.550000	0.68814	ACG		0.587	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		97	189	0	0	0	1	0	97	189				
SOHLH2	54937	broad.mit.edu	37	13	36743177	36743177	+	Silent	SNP	C	C	T	rs148509448		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr13:36743177C>T	ENST00000379881.3	-	11	1360	c.1272G>A	c.(1270-1272)gcG>gcA	p.A424A	SOHLH2_ENST00000554962.1_Silent_p.A501A|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.A501A	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	424					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GCTTTTAATACGCCCAAAACT	0.383																																						ENST00000379881.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1270-1272)gcG>gcA		spermatogenesis and oogenesis specific basic helix-loop-helix 2		T	,	1,4405	826.1+/-416.6	0,1,2202	142.0	139.0	140.0		1503,1272	2.1	1.0	13	dbSNP_134	140	1,8599	819.2+/-406.8	0,1,4299	yes	coding-synonymous,coding-synonymous	SOHLH2,CCDC169-SOHLH2	NM_001198910.1,NM_017826.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	501/503,424/426	36743177	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	54937							g.chr13:36743177C>T	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.1272G>A	13.37:g.36743177C>T						CCDC169-SOHLH2_ENST00000511166.1_Silent_p.A501A|SOHLH2_ENST00000554962.1_Silent_p.A501A	p.A424A	NM_017826.2	NP_060296.2			KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	11	1360	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)						B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	ENST00000379881.3	37	c.1272G>A	CCDS9355.1																																																																																				0.383	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		4	260	0	0	0	1	0	4	260				
PCDHGA3	56112	broad.mit.edu	37	5	140725473	140725473	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:140725473G>A	ENST00000253812.6	+	1	1873	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACACGGGCGAGGTGCGCAC	0.701																																						ENST00000253812.6																			0				breast(1)	1						c.(1873-1875)Gag>Aag									8.0	12.0	11.0					5																	140725473		1991	3987	5978	SO:0001583	missense	0							g.chr5:140725473G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1873G>A	5.37:g.140725473G>A	ENSP00000253812:p.Glu625Lys					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.E625K	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1873	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.1873G>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	32	5.180380	0.94846	.	.	ENSG00000254245	ENST00000253812	T	0.53206	0.63	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	0.000000	0.33515	U	0.004833	T	0.75824	0.3902	M	0.90542	3.125	0.43793	D	0.996331	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.81143	-0.1067	10	0.87932	D	0	.	18.9241	0.92537	0.0:0.0:1.0:0.0	.	625;625	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	K	625	ENSP00000253812:E625K	ENSP00000253812:E625K	E	+	1	0	PCDHGA3	140705657	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	6.599000	0.74127	2.636000	0.89361	0.558000	0.71614	GAG		0.701	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		9	150	0	0	0	1	0	9	150				
PCDH15	65217	broad.mit.edu	37	10	55587212	55587212	+	Silent	SNP	C	C	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr10:55587212C>G	ENST00000320301.6	-	32	4702	c.4308G>C	c.(4306-4308)ccG>ccC	p.P1436P	PCDH15_ENST00000395432.2_Silent_p.P1396P|PCDH15_ENST00000373965.2_Silent_p.P1443P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Silent_p.P1047P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Silent_p.P1411P|PCDH15_ENST00000395438.1_Silent_p.P1436P|PCDH15_ENST00000437009.1_Silent_p.P1365P|PCDH15_ENST00000395430.1_Silent_p.P1433P|PCDH15_ENST00000361849.3_Silent_p.P1436P|PCDH15_ENST00000414778.1_Silent_p.P1438P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Silent_p.P1443P|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1436	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				gcggcggcggcgggggcgCTG	0.582										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4327-4329)ccG>ccC		protocadherin-related 15							31.0	40.0	37.0					10																	55587212		2202	4299	6501	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587212C>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4308G>C	10.37:g.55587212C>G		HNSCC(58;0.16)				PCDH15_ENST00000395432.2_Silent_p.P1396P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Silent_p.P1436P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Silent_p.P1443P|PCDH15_ENST00000320301.6_Silent_p.P1436P|PCDH15_ENST00000361849.3_Silent_p.P1436P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Silent_p.P1047P|PCDH15_ENST00000437009.1_Silent_p.P1365P|PCDH15_ENST00000395430.1_Silent_p.P1433P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Silent_p.P1411P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Silent_p.P1438P	p.P1443P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4723	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1436			Poly-Pro.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.4329G>C	CCDS7248.1																																																																																				0.582	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		6	160	0	0	0	1	0	6	160				
A1BG	1	broad.mit.edu	37	19	58864428	58864428	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr19:58864428G>A	ENST00000263100.3	-	3	267	c.206C>T	c.(205-207)cCt>cTt	p.P69L	A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	69	Ig-like V-type 1.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		AAGGTGCACAGGCTCCTGGGC	0.617																																						ENST00000263100.3																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(205-207)cCt>cTt		alpha-1-B glycoprotein							78.0	76.0	77.0					19																	58864428		2203	4300	6503	SO:0001583	missense	1					extracellular region		g.chr19:58864428G>A		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.206C>T	19.37:g.58864428G>A	ENSP00000263100:p.Pro69Leu					A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA	p.P69L	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	3	267	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	69			Ig-like V-type 1.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	ENST00000263100.3	37	c.206C>T	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	G	5.059	0.196611	0.09599	.	.	ENSG00000121410	ENST00000263100	T	0.00678	5.87	3.52	-7.04	0.01578	Immunoglobulin-like fold (1);	1.143580	0.06718	N	0.774420	T	0.00468	0.0015	N	0.17800	0.525	0.09310	N	1	B	0.06786	0.001	B	0.20384	0.029	T	0.48317	-0.9046	10	0.08837	T	0.75	.	1.0784	0.01638	0.3992:0.2506:0.2059:0.1443	.	69	P04217	A1BG_HUMAN	L	69	ENSP00000263100:P69L	ENSP00000263100:P69L	P	-	2	0	A1BG	63556240	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.271000	0.02828	-1.526000	0.01760	-1.092000	0.02172	CCT		0.617	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		47	76	0	0	0	1	0	47	76				
COL14A1	7373	broad.mit.edu	37	8	121354641	121354641	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:121354641T>A	ENST00000297848.3	+	44	5114	c.4844T>A	c.(4843-4845)aTg>aAg	p.M1615K	COL14A1_ENST00000309791.4_Missense_Mutation_p.M1615K|COL14A1_ENST00000247781.3_Missense_Mutation_p.M1520K	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCTCAAGCCATGGTGAGATCA	0.488																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(4843-4845)aTg>aAg		collagen, type XIV, alpha 1							208.0	172.0	184.0					8																	121354641		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121354641T>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4844T>A	8.37:g.121354641T>A	ENSP00000297848:p.Met1615Lys					COL14A1_ENST00000247781.3_Missense_Mutation_p.M1520K|COL14A1_ENST00000309791.4_Missense_Mutation_p.M1615K	p.M1615K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		44	5114	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1615						Missense_Mutation	SNP	ENST00000297848.3	37	c.4844T>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404792	0.62288	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.87029	-2.1;-2.14;-2.2	5.31	5.31	0.75309	.	0.267486	0.45361	D	0.000376	D	0.83101	0.5181	L	0.50333	1.59	0.80722	D	1	P	0.34826	0.471	B	0.37346	0.247	T	0.79242	-0.1884	10	0.10636	T	0.68	.	13.5538	0.61747	0.0:0.0:0.0:1.0	.	1615	Q05707	COEA1_HUMAN	K	1615;1615;1520	ENSP00000311809:M1615K;ENSP00000297848:M1615K;ENSP00000247781:M1520K	ENSP00000247781:M1520K	M	+	2	0	COL14A1	121423822	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.877000	0.48506	2.017000	0.59298	0.454000	0.30748	ATG		0.488	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		43	80	0	0	0	1	0	43	80				
PTCD2	79810	broad.mit.edu	37	5	71638862	71638862	+	Splice_Site	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:71638862A>G	ENST00000380639.5	+	8	843	c.827A>G	c.(826-828)aAt>aGt	p.N276S	PTCD2_ENST00000503868.1_Splice_Site_p.N167S|PTCD2_ENST00000543322.1_3'UTR|PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000536805.1_Splice_Site_p.N104S	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	276					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		ATTAATTTAAATGTAAGTGAT	0.269																																						ENST00000380639.5																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11						c.e8+1		pentatricopeptide repeat domain 2							63.0	63.0	63.0					5																	71638862		2203	4297	6500	SO:0001630	splice_region_variant	79810							g.chr5:71638862A>G	BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.828+1A>G	5.37:g.71638862A>G						PTCD2_ENST00000543322.1_3'UTR|PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000536805.1_Splice_Site_p.N104_splice|PTCD2_ENST00000503868.1_Splice_Site_p.N167_splice	p.N276_splice	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	8	843	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	276					B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Splice_Site	SNP	ENST00000380639.5	37	c.828_splice	CCDS4014.2	.	.	.	.	.	.	.	.	.	.	A	11.79	1.743371	0.30865	.	.	ENSG00000049883	ENST00000380639;ENST00000503868;ENST00000510676;ENST00000536805	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.47	5.47	0.80525	.	0.215093	0.49305	D	0.000151	T	0.49218	0.1544	M	0.75447	2.3	0.32372	N	0.55578	P;P;P	0.47910	0.902;0.873;0.651	P;B;B	0.45881	0.496;0.356;0.112	T	0.64567	-0.6377	10	0.40728	T	0.16	.	13.078	0.59097	1.0:0.0:0.0:0.0	.	167;104;276	E9PFV7;B7Z8L7;Q8WV60	.;.;PTCD2_HUMAN	S	276;167;105;104	ENSP00000370013:N276S;ENSP00000427349:N167S;ENSP00000426295:N105S;ENSP00000444772:N104S	ENSP00000308948:N276S	N	+	2	0	PTCD2	71674618	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	5.603000	0.67619	2.085000	0.62840	0.477000	0.44152	AAT		0.269	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754	Missense_Mutation	17	140	0	0	0	1	0	17	140				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	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			53	112	0	0	0	1	0	53	112				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	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_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_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		41	11	0	0	0	1	0	41	11				
ODC1	4953	broad.mit.edu	37	2	10582221	10582221	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:10582221C>A	ENST00000234111.4	-	9	1340	c.830G>T	c.(829-831)aGa>aTa	p.R277I	ODC1_ENST00000405333.1_Missense_Mutation_p.R277I|ODC1_ENST00000446285.1_5'Flank	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	277					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	AACATAGTATCTGCCGGGCTC	0.433																																						ENST00000234111.4																			0				NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19						c.(829-831)aGa>aTa		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						88.0	87.0	87.0					2																	10582221		2203	4300	6503	SO:0001583	missense	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10582221C>A		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.830G>T	2.37:g.10582221C>A	ENSP00000234111:p.Arg277Ile					ODC1_ENST00000405333.1_Missense_Mutation_p.R277I	p.R277I	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	9	1340	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		277					Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	c.830G>T	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603119	0.96614	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.70516	-0.49;-0.49	5.79	5.79	0.91817	Orn/DAP/Arg decarboxylase 2, N-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91499	0.7316	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94386	0.7609	10	0.87932	D	0	.	20.0361	0.97558	0.0:1.0:0.0:0.0	.	277	P11926	DCOR_HUMAN	I	277;277;148	ENSP00000234111:R277I;ENSP00000385333:R277I	ENSP00000234111:R277I	R	-	2	0	ODC1	10499672	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.770000	0.85390	2.740000	0.93945	0.563000	0.77884	AGA		0.433	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			120	103	1	0	2.54773e-45	1	2.81243e-45	120	103				
MUC4	4585	broad.mit.edu	37	3	195507717	195507717	+	Silent	SNP	G	G	T	rs376353447		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr3:195507717G>T	ENST00000463781.3	-	2	11193	c.10734C>A	c.(10732-10734)tcC>tcA	p.S3578S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.S3578S|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S3578S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCTGTGGATACTGAGG	0.587																																						ENST00000463781.3																			1	Substitution - coding silent(1)	p.S3578S(1)	kidney(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(10732-10734)tcC>tcA		mucin 4, cell surface associated							8.0	8.0	8.0					3																	195507717		621	1507	2128	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195507717G>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10734C>A	3.37:g.195507717G>T						MUC4_ENST00000475231.1_Silent_p.S3578S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.S3578S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	11193	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	376					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.10734C>A	CCDS54700.1																																																																																				0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	1	1	0	6.4e-05	1	6.47619e-05	2	1				
KRTAP21-2	337978	broad.mit.edu	37	21	32119422	32119422	+	Silent	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr21:32119422G>A	ENST00000333892.2	-	1	129	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	33						intermediate filament (GO:0005882)	structural constituent of cutaneous appendage (GO:0030281)			lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						agccagagccgtatccacagc	0.537																																						ENST00000333892.2																			0				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(97-99)taC>taT		keratin associated protein 21-2							158.0	131.0	140.0					21																	32119422		2203	4300	6503	SO:0001819	synonymous_variant	337978					intermediate filament		g.chr21:32119422G>A	AP001709	CCDS13605.1	21q22.1	2006-03-13			ENSG00000187026	ENSG00000187026		"""Keratin associated proteins"""	18946	protein-coding gene	gene with protein product						12359730	Standard	NM_181617		Approved	KAP21.2	uc011adh.2	Q3LI59	OTTHUMG00000057769	ENST00000333892.2:c.99C>T	21.37:g.32119422G>A							p.Y33Y	NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN			1	129	-			33						Silent	SNP	ENST00000333892.2	37	c.99C>T	CCDS13605.1																																																																																				0.537	KRTAP21-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128221.2			76	22	0	0	0	1	0	76	22				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			8	84	0	0	0	1	0	8	84				
OR5B12	390191	broad.mit.edu	37	11	58207289	58207289	+	Silent	SNP	G	G	C			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:58207289G>C	ENST00000302572.2	-	1	357	c.336C>G	c.(334-336)ctC>ctG	p.L112L		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTGATGCCAGGAGGAAACTTT	0.443																																						ENST00000302572.2																			0				large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(334-336)ctC>ctG		olfactory receptor, family 5, subfamily B, member 12							108.0	102.0	104.0					11																	58207289		2201	4295	6496	SO:0001819	synonymous_variant	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207289G>C	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.336C>G	11.37:g.58207289G>C							p.L112L	NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN			1	357	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	112					B2RNL2|Q6IEV5	Silent	SNP	ENST00000302572.2	37	c.336C>G	CCDS31551.1																																																																																				0.443	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		5	177	0	0	0	1	0	5	177				
NUMA1	4926	broad.mit.edu	37	11	71724905	71724905	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:71724905C>T	ENST00000393695.3	-	15	3975	c.3644G>A	c.(3643-3645)cGg>cAg	p.R1215Q	NUMA1_ENST00000358965.6_Missense_Mutation_p.R1215Q|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTGCCGGCCCCGGGCCACCTG	0.612			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(3643-3645)cGg>cAg		nuclear mitotic apparatus protein 1							73.0	74.0	74.0					11																	71724905		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71724905C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3644G>A	11.37:g.71724905C>T	ENSP00000377298:p.Arg1215Gln					NUMA1_ENST00000358965.6_Missense_Mutation_p.R1215Q|NUMA1_ENST00000351960.6_Intron	p.R1215Q	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	3975	-			1215						Missense_Mutation	SNP	ENST00000393695.3	37	c.3644G>A	CCDS31633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.817|9.817	1.184834|1.184834	0.21870|0.21870	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000541584|ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	.|T;T	.|0.11930	.|2.73;2.73	4.81|4.81	2.91|2.91	0.33838|0.33838	.|.	.|0.166220	.|0.29466	.|N	.|0.012067	T|T	0.07234|0.07234	0.0183|0.0183	L|L	0.28274|0.28274	0.84|0.84	0.26791|0.26791	N|N	0.969399|0.969399	.|P;B;B;P	.|0.34615	.|0.459;0.012;0.012;0.459	.|B;B;B;B	.|0.25291	.|0.059;0.005;0.005;0.059	T|T	0.29610|0.29610	-1.0006|-1.0006	5|10	.|0.22706	.|T	.|0.39	.|.	8.1831|8.1831	0.31322|0.31322	0.0:0.6881:0.0:0.3119|0.0:0.6881:0.0:0.3119	.|.	.|1221;699;1215;1215	.|Q4LE64;Q59HB8;Q14980-2;Q14980	.|.;.;.;NUMA1_HUMAN	R|Q	60|1215;1215;778;184	.|ENSP00000351851:R1215Q;ENSP00000377298:R1215Q	.|ENSP00000351851:R1215Q	G|R	-|-	1|2	0|0	NUMA1|NUMA1	71402553|71402553	0.409000|0.409000	0.25368|0.25368	0.996000|0.996000	0.52242|0.52242	0.884000|0.884000	0.51177|0.51177	1.177000|1.177000	0.31969|0.31969	1.251000|1.251000	0.43983|0.43983	-0.140000|-0.140000	0.14226|0.14226	GGG|CGG		0.612	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			5	179	0	0	0	1	0	5	179				
FAM129B	64855	broad.mit.edu	37	9	130270452	130270452	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:130270452G>A	ENST00000373312.3	-	12	1675	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W	FAM129B_ENST00000373314.3_Missense_Mutation_p.R475W|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	488					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AACCTCTTCCGCACAGAGCTG	0.627																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1462-1464)Cgg>Tgg		family with sequence similarity 129, member B							53.0	55.0	54.0					9																	130270452		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130270452G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1462C>T	9.37:g.130270452G>A	ENSP00000362409:p.Arg488Trp					FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.R475W	p.R488W	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			12	1675	-			488					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1462C>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154823	0.78114	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.34472	1.36;1.36	4.93	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	M	0.76170	2.325	0.48040	D	0.999577	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.989;0.99;0.99	T	0.62067	-0.6932	10	0.87932	D	0	-23.9972	11.7007	0.51569	0.0:0.0:0.8222:0.1777	.	138;475;488	F5H3T0;Q96TA1-2;Q96TA1	.;.;NIBL1_HUMAN	W	475;138;488	ENSP00000362411:R475W;ENSP00000362409:R488W	ENSP00000362409:R488W	R	-	1	2	FAM129B	129310273	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.517000	0.35867	2.266000	0.75297	0.561000	0.74099	CGG		0.627	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		12	110	0	0	0	1	0	12	110				
SNHG14	104472715	broad.mit.edu	37	15	25335149	25335149	+	RNA	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr15:25335149C>T	ENST00000546682.1	+	0	839				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000384430.1_RNA|SNORD116-20_ENST00000384529.1_lincRNA|SNORD116-20_ENST00000384507.1_lincRNA|SNORD116-23_ENST00000384645.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TCATCCTCGTCGAACTGAGGT	0.483																																						ENST00000546682.1																			0																				272.0	231.0	243.0					15																	25335149		876	1991	2867			0							g.chr15:25335149C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25335149C>T						SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000384430.1_RNA		NR_003361.1						0	839	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.483	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			6	512	0	0	0	1	0	6	512				
KIAA0319	9856	broad.mit.edu	37	6	24582557	24582557	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:24582557C>T	ENST00000378214.3	-	6	1635	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	KIAA0319_ENST00000543707.1_Missense_Mutation_p.E371K|KIAA0319_ENST00000430948.2_Missense_Mutation_p.E326K|KIAA0319_ENST00000537886.1_Missense_Mutation_p.E371K|KIAA0319_ENST00000535378.1_Missense_Mutation_p.E362K	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	371	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AAATTCCATTCATAGTTGTAG	0.388																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(1084-1086)Gaa>Aaa		KIAA0319							254.0	245.0	248.0					6																	24582557		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24582557C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1111G>A	6.37:g.24582557C>T	ENSP00000367459:p.Glu371Lys					KIAA0319_ENST00000537886.1_Missense_Mutation_p.E371K|KIAA0319_ENST00000543707.1_Missense_Mutation_p.E371K|KIAA0319_ENST00000430948.2_Missense_Mutation_p.E326K|KIAA0319_ENST00000378214.3_Missense_Mutation_p.E371K	p.E362K	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			7	1726	-			371			PKD 1.		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.1084G>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365007	0.82463	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.08282	3.11;3.12;3.12;3.12;3.12	4.29	3.39	0.38822	PKD/Chitinase domain (1);Fibronectin, type III (1);	0.160733	0.41938	D	0.000786	T	0.18800	0.0451	M	0.78223	2.4	0.51233	D	0.999915	D;D;D	0.76494	0.999;0.996;0.997	D;D;D	0.85130	0.997;0.992;0.995	T	0.00688	-1.1609	10	0.48119	T	0.1	-16.5734	12.5965	0.56472	0.0:0.917:0.0:0.083	.	371;362;371	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	K	371;362;326;371;371	ENSP00000439700:E371K;ENSP00000442403:E362K;ENSP00000401086:E326K;ENSP00000367459:E371K;ENSP00000437656:E371K	ENSP00000367459:E371K	E	-	1	0	KIAA0319	24690536	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.369000	0.52365	2.191000	0.70037	0.484000	0.47621	GAA		0.388	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		80	176	0	0	0	1	0	80	176				
L1CAM	3897	broad.mit.edu	37	X	153128221	153128221	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:153128221G>A	ENST00000370060.1	-	29	3860	c.3671C>T	c.(3670-3672)tCg>tTg	p.S1224L	L1CAM_ENST00000370057.3_Missense_Mutation_p.S1224L|L1CAM_ENST00000370055.1_Missense_Mutation_p.S1215L|L1CAM_ENST00000543994.1_Missense_Mutation_p.S1226L|L1CAM_ENST00000361981.3_Missense_Mutation_p.S1215L|L1CAM_ENST00000361699.4_Missense_Mutation_p.S1220L|L1CAM_ENST00000538883.1_Missense_Mutation_p.S1222L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1224			S -> L (in HSAS). {ECO:0000269|PubMed:9744477}.		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCAATGAACGAACCATCCTC	0.607																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	GRCh37	CM981159	L1CAM	M		c.(3670-3672)tCg>tTg		L1 cell adhesion molecule							102.0	79.0	87.0					X																	153128221		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153128221G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3671C>T	X.37:g.153128221G>A	ENSP00000359077:p.Ser1224Leu					L1CAM_ENST00000361981.3_Missense_Mutation_p.S1215L|L1CAM_ENST00000370055.1_Missense_Mutation_p.S1215L|L1CAM_ENST00000370057.3_Missense_Mutation_p.S1224L|L1CAM_ENST00000538883.1_Missense_Mutation_p.S1222L|L1CAM_ENST00000361699.4_Missense_Mutation_p.S1220L|L1CAM_ENST00000543994.1_Missense_Mutation_p.S1226L	p.S1224L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			29	3860	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1224		S -> L (in HSAS).			A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.3671C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482620	0.84747	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000370058;ENST00000361699	D;D;D;D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93	4.7	4.7	0.59300	.	0.000000	0.52532	D	0.000079	D	0.97917	0.9315	M	0.88842	2.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98982	1.0805	10	0.87932	D	0	.	15.4779	0.75501	0.0:0.0:1.0:0.0	.	1215;1220;1224	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	L	1224;1226;1224;1222;1215;1215;120;1220	ENSP00000359077:S1224L;ENSP00000438430:S1226L;ENSP00000359074:S1224L;ENSP00000439645:S1222L;ENSP00000354712:S1215L;ENSP00000359072:S1215L;ENSP00000359075:S120L;ENSP00000355380:S1220L	ENSP00000355380:S1220L	S	-	2	0	L1CAM	152781415	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	9.550000	0.98110	2.162000	0.67917	0.529000	0.55759	TCG		0.607	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		56	136	0	0	0	1	0	56	136				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	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			8	81	0	0	0	1	0	8	81				
ITIH2	3698	broad.mit.edu	37	10	7774441	7774441	+	Splice_Site	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr10:7774441G>A	ENST00000358415.4	+	14	1953		c.e14+1		ITIH2_ENST00000379587.4_Splice_Site	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2						hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAGCTGAACGGTAAGAAGAGA	0.433																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.e14+1		inter-alpha-trypsin inhibitor heavy chain 2							81.0	75.0	77.0					10																	7774441		2203	4300	6503	SO:0001630	splice_region_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7774441G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1787+1G>A	10.37:g.7774441G>A						ITIH2_ENST00000379587.4_Splice_Site		NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			14	1953	+								Q14659|Q15484|Q5T986	Splice_Site	SNP	ENST00000358415.4	37		CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657536	0.67586	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0163	0.92896	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITIH2	7814447	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	8.517000	0.90555	2.498000	0.84270	0.643000	0.83706	.		0.433	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	Intron	26	52	0	0	0	1	0	26	52				
KALRN	8997	broad.mit.edu	37	3	123987699	123987699	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr3:123987699G>A	ENST00000240874.3	+	5	717	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	KALRN_ENST00000460856.1_Missense_Mutation_p.R187Q|KALRN_ENST00000360013.3_Missense_Mutation_p.R187Q	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	187					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATCGAACTGCGGCTCTCCCTG	0.602																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(559-561)cGg>cAg		kalirin, RhoGEF kinase							63.0	62.0	62.0					3																	123987699		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:123987699G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.560G>A	3.37:g.123987699G>A	ENSP00000240874:p.Arg187Gln					KALRN_ENST00000240874.3_Missense_Mutation_p.R187Q|KALRN_ENST00000460856.1_Missense_Mutation_p.R187Q	p.R187Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			5	687	+			187					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.560G>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.744702|5.744702	0.96882|0.96882	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000448253;ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.25579	.|1.79;1.79;1.79	5.46|5.46	5.46|5.46	0.80206|0.80206	.|Cellular retinaldehyde-binding/triple function, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59418|0.59418	0.2192|0.2192	M|M	0.87900|0.87900	2.915|2.915	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.997;1.0	.|D;D;D	.|0.91635	.|0.995;0.968;0.999	T|T	0.64202|0.64202	-0.6463|-0.6463	5|10	.|0.66056	.|D	.|0.02	.|.	19.5125|19.5125	0.95148|0.95148	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|187;187;187	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	S|Q	215;165|187	.|ENSP00000418611:R187Q;ENSP00000240874:R187Q;ENSP00000353109:R187Q	.|ENSP00000240874:R187Q	G|R	+|+	1|2	0|0	KALRN|KALRN	125470389|125470389	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.657000|9.657000	0.98554|0.98554	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.602	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		4	78	0	0	0	1	0	4	78				
RAB11FIP1	80223	broad.mit.edu	37	8	37732635	37732635	+	Silent	SNP	C	C	T	rs142192886	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:37732635C>T	ENST00000330843.4	-	3	1032	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P	RAB11FIP1_ENST00000522727.1_Silent_p.P192P|RAB11FIP1_ENST00000524118.1_Silent_p.P192P|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000287263.4_Silent_p.P340P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	340					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GGGAGGAGGACGGGCTGCTAT	0.532																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1018-1020)ccG>ccA		RAB11 family interacting protein 1 (class I)		C	,	3,4403	6.2+/-15.9	0,3,2200	258.0	260.0	260.0		1020,1020	-10.2	0.0	8	dbSNP_134	260	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RAB11FIP1	NM_001002814.2,NM_025151.4	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	340/1284,340/650	37732635	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732635C>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1020G>A	8.37:g.37732635C>T						RAB11FIP1_ENST00000524118.1_Silent_p.P192P|RAB11FIP1_ENST00000522727.1_Silent_p.P192P|RAB11FIP1_ENST00000287263.4_Silent_p.P340P	p.P340P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1032	-		Lung NSC(58;0.118)|all_lung(54;0.195)	340					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.1020G>A	CCDS34882.1																																																																																				0.532	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		5	577	0	0	0	1	0	5	577				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	223	0	0	0	1	0	6	223				
MAP6	4135	broad.mit.edu	37	11	75298555	75298555	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:75298555A>G	ENST00000304771.3	-	4	2741	c.1991T>C	c.(1990-1992)aTg>aCg	p.M664T	MAP6_ENST00000526689.1_5'Flank|CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.M335T	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	664	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					CTCAGAGACCATGGAACCTTG	0.488																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	ENST00000304771.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1990-1992)aTg>aCg		microtubule-associated protein 6							169.0	154.0	159.0					11																	75298555		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75298555A>G	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1991T>C	11.37:g.75298555A>G	ENSP00000307093:p.Met664Thr					MAP6_ENST00000526740.1_Missense_Mutation_p.M335T|CTD-2530H12.4_ENST00000527803.1_RNA	p.M664T	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN			4	2741	-	Ovarian(111;0.11)		664			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1991T>C	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	A	6.614	0.481723	0.12581	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.41400	1.0	5.01	-0.594	0.11664	.	1.798120	0.02690	N	0.110485	T	0.27278	0.0669	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04870	-1.0921	10	0.10636	T	0.68	0.1771	0.9609	0.01395	0.3566:0.3148:0.1763:0.1523	.	664	Q96JE9	MAP6_HUMAN	T	664;335;335	ENSP00000307093:M664T	ENSP00000307093:M664T	M	-	2	0	MAP6	74976203	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	-0.019000	0.12546	0.077000	0.16863	0.533000	0.62120	ATG		0.488	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		7	229	0	0	0	1	0	7	229				
SLC9A4	389015	broad.mit.edu	37	2	103120021	103120021	+	Silent	SNP	T	T	C			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:103120021T>C	ENST00000295269.4	+	3	1292	c.835T>C	c.(835-837)Ttg>Ctg	p.L279L		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	279					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TGGAGGGGTATTGTTTGGCAT	0.398																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(835-837)Ttg>Ctg		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							352.0	328.0	336.0					2																	103120021		2203	4300	6503	SO:0001819	synonymous_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103120021T>C		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.835T>C	2.37:g.103120021T>C							p.L279L	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			3	1292	+			279					Q69YK0	Silent	SNP	ENST00000295269.4	37	c.835T>C	CCDS33264.1																																																																																				0.398	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		65	94	0	0	0	1	0	65	94				
SGOL2	151246	broad.mit.edu	37	2	201438253	201438253	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:201438253A>G	ENST00000357799.4	+	7	3282	c.3184A>G	c.(3184-3186)Ata>Gta	p.I1062V		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1062					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGTGGAAGAAATAAAAGAAGG	0.378																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(3184-3186)Ata>Gta		shugoshin-like 2 (S. pombe)							75.0	74.0	74.0					2																	201438253		1810	4074	5884	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201438253A>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.3184A>G	2.37:g.201438253A>G	ENSP00000350447:p.Ile1062Val						p.I1062V	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	3282	+			1062					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.3184A>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	3.973	-0.008070	0.07773	.	.	ENSG00000163535	ENST00000357799	T	0.10573	2.86	5.16	-4.16	0.03869	.	1.344680	0.04912	N	0.453376	T	0.03608	0.0103	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.41980	-0.9478	10	0.06494	T	0.89	2.187	6.7223	0.23336	0.3536:0.0:0.5043:0.1422	.	1062;1062;1062	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	V	1062	ENSP00000350447:I1062V	ENSP00000350447:I1062V	I	+	1	0	SGOL2	201146498	0.002000	0.14202	0.000000	0.03702	0.028000	0.11728	0.183000	0.16919	-0.490000	0.06707	0.528000	0.53228	ATA		0.378	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		82	133	0	0	0	1	0	82	133				
ATG4B	23192	broad.mit.edu	37	2	242594686	242594686	+	Splice_Site	SNP	C	C	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:242594686C>A	ENST00000404914.3	+	6	489	c.386C>A	c.(385-387)gCg>gAg	p.A129E	ATG4B_ENST00000402096.1_Splice_Site_p.A55E|ATG4B_ENST00000474739.2_Splice_Site_p.A115E|ATG4B_ENST00000396411.3_Splice_Site_p.A55E|ATG4B_ENST00000405546.3_Splice_Site_p.A129E	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	129					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TTCCCTGCAGCGCAAATGGGA	0.597																																					Melanoma(78;458 1323 6342 12171 39523)	ENST00000405546.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.e6-1		autophagy related 4B, cysteine peptidase							119.0	122.0	121.0					2																	242594686		2087	4178	6265	SO:0001630	splice_region_variant	23192				autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	g.chr2:242594686C>A	AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"""APG4 autophagy 4 homolog B (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog B (S. cerevisiae)"""	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.386-1C>A	2.37:g.242594686C>A						ATG4B_ENST00000404914.3_Splice_Site_p.A129_splice|ATG4B_ENST00000402096.1_Splice_Site_p.A55_splice|ATG4B_ENST00000396411.3_Splice_Site_p.A55_splice|ATG4B_ENST00000474739.2_Splice_Site_p.A115_splice	p.A129_splice			Q9Y4P1	ATG4B_HUMAN		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)	6	888	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	129					B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Splice_Site	SNP	ENST00000404914.3	37	c.385_splice	CCDS46564.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454989	0.84209	.	.	ENSG00000168397	ENST00000405546;ENST00000337606;ENST00000402096;ENST00000404914;ENST00000419606;ENST00000474739;ENST00000396411;ENST00000425239;ENST00000430617;ENST00000429899;ENST00000311517	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.13	5.13	0.70059	.	0.051819	0.85682	D	0.000000	T	0.66076	0.2753	M	0.79343	2.45	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;0.999;0.996;0.997	D;D;D;D;D	0.78314	0.969;0.989;0.982;0.987;0.991	T	0.68059	-0.5509	9	.	.	.	.	17.3459	0.87309	0.0:1.0:0.0:0.0	.	115;246;217;129;55	F5H7P2;B4DZK0;Q9Y4P1-2;Q9Y4P1;Q9Y4P1-4	.;.;.;ATG4B_HUMAN;.	E	129;246;55;129;55;115;55;129;55;55;55	ENSP00000383964:A129E;ENSP00000384661:A55E;ENSP00000384259:A129E;ENSP00000400050:A55E;ENSP00000442378:A115E;ENSP00000379692:A55E;ENSP00000409895:A129E;ENSP00000407389:A55E;ENSP00000410526:A55E	.	A	+	2	0	ATG4B	242243359	1.000000	0.71417	0.975000	0.42487	0.689000	0.40095	6.575000	0.74018	2.404000	0.81709	0.462000	0.41574	GCG		0.597	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3	NM_013325	Missense_Mutation	3	23	1	0	0.150653	1	0.150653	3	23				
SERPINB5	5268	broad.mit.edu	37	18	61160386	61160386	+	Intron	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr18:61160386A>G	ENST00000382771.4	+	5	859				SERPINB5_ENST00000489441.1_Missense_Mutation_p.R209G|SERPINB5_ENST00000464346.1_Intron	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5						cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						GAAAAATGATAGGGACAGAGT	0.453																																						ENST00000489441.1																			0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(625-627)Agg>Ggg		serpin peptidase inhibitor, clade B (ovalbumin), member 5																																				SO:0001627	intron_variant	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61160386A>G	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.567+58A>G	18.37:g.61160386A>G						SERPINB5_ENST00000464346.1_Intron|SERPINB5_ENST00000382771.4_Intron	p.R209G			P36952	SPB5_HUMAN			5	720	+			0					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.625A>G	CCDS32839.1																																																																																				0.453	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		47	52	0	0	0	1	0	47	52				
OR2T5	401993	broad.mit.edu	37	1	248651994	248651994	+	Silent	SNP	C	C	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:248651994C>A	ENST00000366473.2	+	1	110	c.105C>A	c.(103-105)atC>atA	p.I35I		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	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)			GTGTGGTCATCTTTGTGGTTT	0.488																																						ENST00000366473.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9						c.(103-105)atC>atA		olfactory receptor, family 2, subfamily T, member 5							124.0	142.0	136.0					1																	248651994		2199	4298	6497	SO:0001819	synonymous_variant	401993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248651994C>A	BK004465	CCDS31118.1	1q44	2012-08-09			ENSG00000203661	ENSG00000203661		"""GPCR / Class A : Olfactory receptors"""	15017	protein-coding gene	gene with protein product							Standard	NM_001004697		Approved		uc001iem.1	Q6IEZ7	OTTHUMG00000040481	ENST00000366473.2:c.105C>A	1.37:g.248651994C>A							p.I35I	NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	110	+	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)		35						Silent	SNP	ENST00000366473.2	37	c.105C>A	CCDS31118.1																																																																																				0.488	OR2T5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097422.1	NM_001004697		9	332	1	0	1.41608e-15	1	1.52363e-15	9	332				
TBC1D4	9882	broad.mit.edu	37	13	75861079	75861079	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr13:75861079C>T	ENST00000377636.3	-	21	4092	c.3746G>A	c.(3745-3747)cGg>cAg	p.R1249Q	TBC1D4_ENST00000431480.2_Missense_Mutation_p.R1241Q|TBC1D4_ENST00000425511.1_Missense_Mutation_p.R413Q|TBC1D4_ENST00000377625.2_Missense_Mutation_p.R1186Q	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1249					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTCCAGGGTCCGGATTAAAGA	0.458																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3745-3747)cGg>cAg		TBC1 domain family, member 4							129.0	124.0	125.0					13																	75861079		1834	4086	5920	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75861079C>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.3746G>A	13.37:g.75861079C>T	ENSP00000366863:p.Arg1249Gln					TBC1D4_ENST00000425511.1_Missense_Mutation_p.R413Q|TBC1D4_ENST00000377625.2_Missense_Mutation_p.R1186Q|TBC1D4_ENST00000431480.2_Missense_Mutation_p.R1241Q	p.R1249Q	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	21	4092	-		Prostate(6;0.014)|Breast(118;0.0982)	1249					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.3746G>A	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361338	0.41801	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511	T;T;T;T	0.79554	4.03;4.02;4.05;-1.28	5.63	5.63	0.86233	.	0.109676	0.41294	D	0.000918	T	0.62122	0.2402	L	0.27053	0.805	0.51767	D	0.999935	B;B;B;B	0.30511	0.038;0.147;0.147;0.282	B;B;B;B	0.20384	0.006;0.021;0.024;0.029	T	0.57894	-0.7732	10	0.13108	T	0.6	-27.6576	6.1928	0.20534	0.1826:0.7063:0.0:0.1111	.	413;1186;1241;1249	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	Q	1249;1241;1186;413	ENSP00000366863:R1249Q;ENSP00000395986:R1241Q;ENSP00000366852:R1186Q;ENSP00000390654:R413Q	ENSP00000366852:R1186Q	R	-	2	0	TBC1D4	74759080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.255000	0.58804	2.798000	0.96311	0.655000	0.94253	CGG		0.458	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		5	261	0	0	0	1	0	5	261				
AHNAK	79026	broad.mit.edu	37	11	62289340	62289340	+	Silent	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:62289340G>A	ENST00000378024.4	-	5	12823	c.12549C>T	c.(12547-12549)gaC>gaT	p.D4183D	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4183					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTAAGTGCCAGTCTGGGCCTT	0.542																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(12547-12549)gaC>gaT		AHNAK nucleoprotein							185.0	190.0	188.0					11																	62289340		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62289340G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12549C>T	11.37:g.62289340G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.D4183D	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	12823	-		Melanoma(852;0.155)	4183					A1A586	Silent	SNP	ENST00000378024.4	37	c.12549C>T	CCDS31584.1																																																																																				0.542	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		217	424	0	0	0	1	0	217	424				
ARSE	415	broad.mit.edu	37	X	2854890	2854890	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:2854890T>C	ENST00000381134.3	-	10	1370	c.1304A>G	c.(1303-1305)cAa>cGa	p.Q435R	ARSE_ENST00000540563.1_Missense_Mutation_p.Q390R|ARSE_ENST00000545496.1_Missense_Mutation_p.Q460R	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	435					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGAAGGTCTTGGCCGTCAAT	0.567																																						ENST00000545496.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1378-1380)cAa>cGa		arylsulfatase E (chondrodysplasia punctata 1)							128.0	77.0	94.0					X																	2854890		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2854890T>C	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1304A>G	X.37:g.2854890T>C	ENSP00000370526:p.Gln435Arg					ARSE_ENST00000540563.1_Missense_Mutation_p.Q390R|ARSE_ENST00000381134.3_Missense_Mutation_p.Q435R	p.Q460R			P51690	ARSE_HUMAN			11	1670	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	435					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.1379A>G	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.842013	0.00068	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.92699	-3.09;-3.09;-3.09	3.77	-1.88	0.07713	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.804977	0.11593	N	0.548478	T	0.71022	0.3291	N	0.00894	-1.105	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.64032	-0.6502	10	0.02654	T	1	.	9.9792	0.41802	0.0:0.4775:0.0:0.5225	.	390;460;435	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	R	390;460;435	ENSP00000438198:Q390R;ENSP00000441417:Q460R;ENSP00000370526:Q435R	ENSP00000370526:Q435R	Q	-	2	0	ARSE	2864890	0.085000	0.21516	0.017000	0.16124	0.388000	0.30384	-0.162000	0.10012	-0.259000	0.09432	-0.657000	0.03884	CAA		0.567	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		27	54	0	0	0	1	0	27	54				
CASS4	57091	broad.mit.edu	37	20	55027795	55027795	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:55027795G>T	ENST00000360314.3	+	6	1788	c.1563G>T	c.(1561-1563)caG>caT	p.Q521H	CASS4_ENST00000371336.3_Missense_Mutation_p.Q521H|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	521					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ACCAGATGCAGACCATCTCCA	0.473																																						ENST00000371336.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(1561-1563)caG>caT		Cas scaffolding protein family member 4							79.0	76.0	77.0					20																	55027795		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027795G>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1563G>T	20.37:g.55027795G>T	ENSP00000353462:p.Gln521His					CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.Q521H	p.Q521H	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN			5	1764	+			521					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.1563G>T	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107629	0.56291	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.26518	1.73;1.73	5.78	3.75	0.43078	Serine rich protein interaction (1);	0.311519	0.35970	N	0.002874	T	0.47432	0.1445	M	0.84326	2.69	0.35348	D	0.787128	D;B;B	0.69078	0.997;0.063;0.028	D;B;B	0.66196	0.942;0.04;0.026	T	0.60120	-0.7325	10	0.72032	D	0.01	-10.4188	7.1054	0.25360	0.0649:0.2318:0.5837:0.1197	.	467;521;521	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	H	521	ENSP00000353462:Q521H;ENSP00000360387:Q521H	ENSP00000353462:Q521H	Q	+	3	2	CASS4	54461202	0.993000	0.37304	0.984000	0.44739	0.710000	0.40934	0.708000	0.25719	0.841000	0.35020	0.591000	0.81541	CAG		0.473	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		9	127	1	0	1.12685e-05	1	1.154e-05	9	127				
ANGPTL2	23452	broad.mit.edu	37	9	129854001	129854001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:129854001C>T	ENST00000373425.3	-	4	1847	c.1230G>A	c.(1228-1230)tgG>tgA	p.W410*	RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.W108*|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	410	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TGCCGTTGTGCCATGTAAAGG	0.532																																						ENST00000373425.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(1228-1230)tgG>tgA		angiopoietin-like 2							205.0	198.0	200.0					9																	129854001		2203	4300	6503	SO:0001587	stop_gained	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129854001C>T	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1230G>A	9.37:g.129854001C>T	ENSP00000362524:p.Trp410*					RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.W108*	p.W410*	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN			4	1847	-			410			Fibrinogen C-terminal.		Q5JT58|Q8NCH7	Nonsense_Mutation	SNP	ENST00000373425.3	37	c.1230G>A	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	C	42	9.799516	0.99267	.	.	ENSG00000136859	ENST00000373425;ENST00000373417	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.1061	0.93296	0.0:1.0:0.0:0.0	.	.	.	.	X	410;108	.	ENSP00000362516:W108X	W	-	3	0	ANGPTL2	128893822	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.855000	0.62925	2.574000	0.86865	0.655000	0.94253	TGG		0.532	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		6	508	0	0	0	1	0	6	508				
PGM2	55276	broad.mit.edu	37	4	37857282	37857282	+	Silent	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr4:37857282A>G	ENST00000381967.4	+	13	1756	c.1656A>G	c.(1654-1656)ggA>ggG	p.G552G	PGM2_ENST00000537241.1_Silent_p.G392G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	552					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TTGCTAATGGAGGCGTGGCCA	0.468																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(1654-1656)ggA>ggG		phosphoglucomutase 2							101.0	91.0	95.0					4																	37857282		2203	4300	6503	SO:0001819	synonymous_variant	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37857282A>G	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1656A>G	4.37:g.37857282A>G						PGM2_ENST00000537241.1_Silent_p.G392G	p.G552G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			13	1756	+			552					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Silent	SNP	ENST00000381967.4	37	c.1656A>G	CCDS3443.1																																																																																				0.468	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		4	149	0	0	0	1	0	4	149				
FOLH1B	219595	broad.mit.edu	37	11	89395322	89395322	+	RNA	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89395322C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89395322C>T										Q9HBA9	FOH1B_HUMAN			0	720	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.343	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		4	89	0	0	0	1	0	4	89				
ZFYVE16	9765	broad.mit.edu	37	5	79734068	79734068	+	Missense_Mutation	SNP	G	G	A	rs367799631		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:79734068G>A	ENST00000338008.5	+	3	1744	c.1564G>A	c.(1564-1566)Gca>Aca	p.A522T	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A522T|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A522T	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	522					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.A522T(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TGATGAAGGCGCAAAAAGTGG	0.353																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			1	Substitution - Missense(1)	p.A522T(1)	lung(1)	breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1564-1566)Gca>Aca		zinc finger, FYVE domain containing 16		G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	74.0	78.0	76.0		1564,1564	3.2	0.9	5		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZFYVE16	NM_001105251.1,NM_014733.3	58,58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	522/1540,522/1540	79734068	2,13004	2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79734068G>A	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.1564G>A	5.37:g.79734068G>A	ENSP00000337159:p.Ala522Thr					ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A522T|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A522T	p.A522T	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	3	1744	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	522					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.1564G>A	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	5.330	0.246272	0.10130	2.27E-4	1.16E-4	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.37584	1.19;1.19;1.19	5.63	3.24	0.37175	.	0.414834	0.25634	N	0.029328	T	0.15739	0.0379	N	0.08118	0	0.09310	N	0.999997	B;B	0.29671	0.0;0.254	B;B	0.19148	0.001;0.024	T	0.15983	-1.0418	10	0.25106	T	0.35	-1.1587	8.9058	0.35523	0.8526:0.0:0.1474:0.0	.	522;522	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	T	522	ENSP00000337159:A522T;ENSP00000423663:A522T;ENSP00000426848:A522T	ENSP00000337159:A522T	A	+	1	0	ZFYVE16	79769824	0.025000	0.19082	0.873000	0.34254	0.161000	0.22273	0.582000	0.23834	0.512000	0.28257	-1.004000	0.02495	GCA		0.353	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		4	191	0	0	0	1	0	4	191				
RRAGB	10325	broad.mit.edu	37	X	55782315	55782315	+	Silent	SNP	T	T	C			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:55782315T>C	ENST00000262850.7	+	9	1304	c.861T>C	c.(859-861)caT>caC	p.H287H	RRAGB_ENST00000374941.4_Silent_p.H259H	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GTGATGCCCATAGATTTGAGA	0.343																																						ENST00000374941.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						c.(775-777)caT>caC		Ras-related GTP binding B							104.0	93.0	97.0					X																	55782315		2203	4300	6503	SO:0001819	synonymous_variant	10325				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding	g.chrX:55782315T>C	X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.861T>C	X.37:g.55782315T>C						RRAGB_ENST00000262850.7_Silent_p.H287H	p.H259H	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN			8	1366	+			287						Silent	SNP	ENST00000262850.7	37	c.777T>C	CCDS14372.1																																																																																				0.343	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	NM_016656		46	64	0	0	0	1	0	46	64				
INSL4	3641	broad.mit.edu	37	9	5231539	5231539	+	Missense_Mutation	SNP	C	C	T	rs142741438	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:5231539C>T	ENST00000239316.4	+	1	121	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	6					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	insulin-like growth factor receptor binding (GO:0005159)|receptor binding (GO:0005102)			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		CAGCCTGTTCCGGTCCTATCT	0.542													T|||	9	0.00179712	0.0	0.0014	5008	,	,		20513	0.0		0.001	False		,,,				2504	0.0072					ENST00000239316.4																			0				endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6						c.(16-18)Cgg>Tgg		insulin-like 4 (placenta)		T	TRP/ARG	0,4406		0,0,2203	73.0	67.0	69.0		16	2.4	0.0	9	dbSNP_134	69	13,8587	818.3+/-406.9	0,13,4287	yes	missense	INSL4	NM_002195.1	101	0,13,6490	TT,TC,CC		0.1512,0.0,0.1	benign	6/140	5231539	13,12993	2203	4300	6503	SO:0001583	missense	3641				cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding	g.chr9:5231539C>T		CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211			6087	protein-coding gene	gene with protein product		600910				8666396, 9730618	Standard	NM_002195		Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.16C>T	9.37:g.5231539C>T	ENSP00000239316:p.Arg6Trp						p.R6W	NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)	1	121	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	6					A8K678|Q5W127	Missense_Mutation	SNP	ENST00000239316.4	37	c.16C>T	CCDS6459.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	4.418	0.077335	0.08485	0.0	0.001512	ENSG00000120211	ENST00000239316	T	0.17370	2.28	2.41	2.41	0.29592	.	0.719769	0.10310	N	0.690041	T	0.08223	0.0205	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34229	-0.9837	10	0.44086	T	0.13	.	4.3908	0.11339	0.0:0.1689:0.0:0.8311	.	6	Q14641	INSL4_HUMAN	W	6	ENSP00000239316:R6W	ENSP00000239316:R6W	R	+	1	2	INSL4	5221539	0.002000	0.14202	0.000000	0.03702	0.093000	0.18481	1.105000	0.31086	0.351000	0.24027	-1.140000	0.01884	CGG		0.542	INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051616.2	NM_002195		14	19	0	0	0	1	0	14	19				
MTPAP	55149	broad.mit.edu	37	10	30653878	30653878	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr10:30653878G>A	ENST00000358107.4	-	2	303	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	RN7SL241P_ENST00000482973.2_RNA|AL161651.1_ENST00000408070.1_RNA|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ccacAGAGGTGCTGCAATGCC	0.652																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(304-306)Cac>Tac		mitochondrial poly(A) polymerase																																				SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30653878G>A	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000358107.4:c.304C>T	10.37:g.30653878G>A	ENSP00000350820:p.His102Tyr					MTPAP_ENST00000488290.1_5'UTR	p.H102Y			Q9NVV4	PAPD1_HUMAN			2	303	-			0					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000358107.4	37	c.304C>T		.	.	.	.	.	.	.	.	.	.	.	6.821	0.520615	0.13005	.	.	ENSG00000107951	ENST00000358107	T	0.19105	2.17	0.436	0.436	0.16549	.	.	.	.	.	T	0.10766	0.0263	.	.	.	0.09310	N	1	B	0.34290	0.447	B	0.21151	0.033	T	0.25117	-1.0141	8	0.87932	D	0	.	2.8282	0.05491	0.3939:0.0:0.6061:0.0	.	102	Q9NVV4-2	.	Y	102	ENSP00000350820:H102Y	ENSP00000350820:H102Y	H	-	1	0	MTPAP	30693884	0.001000	0.12720	0.013000	0.15412	0.039000	0.13416	-0.012000	0.12699	0.468000	0.27243	0.205000	0.17691	CAC		0.652	MTPAP-201	KNOWN	basic	protein_coding	protein_coding		NM_018109		12	20	0	0	0	1	0	12	20				
AMPD1	270	broad.mit.edu	37	1	115231189	115231189	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:115231189C>A	ENST00000520113.2	-	3	322	c.307G>T	c.(307-309)Gcc>Tcc	p.A103S	AMPD1_ENST00000353928.6_Missense_Mutation_p.A70S|AMPD1_ENST00000369538.3_Missense_Mutation_p.A99S			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	103					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TACCTCCTGGCTTCTGTGGAG	0.468																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(295-297)Gcc>Tcc		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						107.0	103.0	105.0					1																	115231189		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115231189C>A	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.307G>T	1.37:g.115231189C>A	ENSP00000430075:p.Ala103Ser					AMPD1_ENST00000353928.6_Missense_Mutation_p.A70S|AMPD1_ENST00000520113.2_Missense_Mutation_p.A103S	p.A99S	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	342	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	70					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.295G>T	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	6.826	0.521645	0.13005	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;T;T	0.38077	1.16;1.16;1.16	5.91	4.05	0.47172	.	0.874022	0.10191	N	0.704683	T	0.06096	0.0158	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39251	-0.9623	10	0.10902	T	0.67	-0.7728	10.1324	0.42687	0.0:0.8472:0.0:0.1528	.	99;70	Q5TF02;P23109	.;AMPD1_HUMAN	S	103;99;70	ENSP00000430075:A103S;ENSP00000358551:A99S;ENSP00000316520:A70S	ENSP00000316520:A70S	A	-	1	0	AMPD1	115032712	0.021000	0.18746	0.272000	0.24630	0.526000	0.34562	0.686000	0.25392	0.840000	0.34995	0.650000	0.86243	GCC		0.468	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			7	206	1	0	2.0095e-06	1	2.08302e-06	7	206				
LZTS1	11178	broad.mit.edu	37	8	20112535	20112535	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:20112535C>T	ENST00000381569.1	-	2	515	c.158G>A	c.(157-159)gGc>gAc	p.G53D	LZTS1_ENST00000265801.6_Missense_Mutation_p.G53D|LZTS1_ENST00000522290.1_Missense_Mutation_p.G53D			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	53					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTGGACTTGCCGTGACCGGA	0.577																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(157-159)gGc>gAc		leucine zipper, putative tumor suppressor 1							94.0	88.0	90.0					8																	20112535		2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20112535C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.158G>A	8.37:g.20112535C>T	ENSP00000370981:p.Gly53Asp					LZTS1_ENST00000522290.1_Missense_Mutation_p.G53D|LZTS1_ENST00000265801.6_Missense_Mutation_p.G53D	p.G53D			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	2	515	-			53					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.158G>A	CCDS6015.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.43|15.43	2.830957|2.830957	0.50845|0.50845	.|.	.|.	ENSG00000061337|ENSG00000061337	ENST00000334294|ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	.|T;T;T	.|0.24151	.|2.2;2.2;1.87	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.457888	.|0.25601	.|N	.|0.029548	.|T	.|0.17577	.|0.0422	N|N	0.14661|0.14661	0.345|0.345	0.42195|0.42195	D|D	0.991743|0.991743	.|P;P	.|0.41366	.|0.589;0.747	.|B;B	.|0.39258	.|0.295;0.255	.|T	.|0.02844	.|-1.1103	.|10	.|0.62326	.|D	.|0.03	.|-41.4352	13.5254|13.5254	0.61593|0.61593	0.0:0.8439:0.1561:0.0|0.0:0.8439:0.1561:0.0	.|.	.|53;53	.|Q9Y250-4;Q9Y250	.|.;LZTS1_HUMAN	.|D	-1|53	.|ENSP00000370981:G53D;ENSP00000265801:G53D;ENSP00000429263:G53D	.|ENSP00000265801:G53D	.|G	-|-	.|2	.|0	LZTS1|LZTS1	20156815|20156815	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	2.376000|2.376000	0.44292|0.44292	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	.|GGC		0.577	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		4	167	0	0	0	1	0	4	167				
ZC3H7B	23264	broad.mit.edu	37	22	41723244	41723244	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr22:41723244A>T	ENST00000352645.4	+	5	577	c.320A>T	c.(319-321)aAg>aTg	p.K107M	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.K107M	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	107					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GACAGCGAGAAGGCGCTGGGC	0.632																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(319-321)aAg>aTg		zinc finger CCCH-type containing 7B							120.0	94.0	103.0					22																	41723244		2203	4300	6503	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41723244A>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.320A>T	22.37:g.41723244A>T	ENSP00000345793:p.Lys107Met					ZC3H7B_ENST00000351589.4_Missense_Mutation_p.K107M	p.K107M	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			5	577	+			107					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.320A>T	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.371703	0.61624	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.63417	-0.04;-0.04	5.27	5.27	0.74061	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.096995	0.64402	D	0.000001	T	0.74989	0.3789	M	0.69523	2.12	0.46131	D	0.998885	P;D	0.89917	0.917;1.0	P;D	0.74348	0.693;0.983	T	0.76462	-0.2950	10	0.52906	T	0.07	-26.3846	9.6868	0.40103	0.9222:0.0:0.0778:0.0	.	107;107	Q9UGR2-2;Q9UGR2	.;Z3H7B_HUMAN	M	107	ENSP00000345793:K107M;ENSP00000263243:K107M	ENSP00000263243:K107M	K	+	2	0	ZC3H7B	40053190	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	2.624000	0.46444	1.989000	0.58080	0.402000	0.26972	AAG		0.632	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		49	106	0	0	0	1	0	49	106				
MTTP	4547	broad.mit.edu	37	4	100540154	100540154	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr4:100540154delA	ENST00000265517.5	+	16	2444	c.2241delA	c.(2239-2241)ctafs	p.L747fs	MTTP_ENST00000511045.1_Frame_Shift_Del_p.L774fs|MTTP_ENST00000457717.1_Frame_Shift_Del_p.L747fs|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	747					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AATCTGGACTAAAAGCCAATA	0.348																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2239-2241)ctfs		microsomal triglyceride transfer protein	Hesperetin(DB01094)						140.0	142.0	141.0					4																	100540154		2203	4300	6503	SO:0001589	frameshift_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100540154delA		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2241delA	4.37:g.100540154delA	ENSP00000265517:p.Leu747fs					RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Frame_Shift_Del_p.L747fs|MTTP_ENST00000511045.1_Frame_Shift_Del_p.L774fs	p.L747fs	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	17	2497	+			747					A8K428|Q08AM4|Q6P5T3	Frame_Shift_Del	DEL	ENST00000265517.5	37	c.2241delA	CCDS3651.1																																																																																				0.348	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			21	263						21	263	---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1201-1203)aafs		cadherin 3, type 1, P-cadherin (placental)							229.0	242.0	238.0					16																	68718504		2198	4300	6498	SO:0001589	frameshift_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718504delA	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1201delA	16.37:g.68718504delA	ENSP00000264012:p.Lys401fs					CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1745	+		Ovarian(137;0.0564)	401			Cadherin 3.		B2R6F4|Q05DI6	Frame_Shift_Del	DEL	ENST00000264012.4	37	c.1201delA	CCDS10868.1																																																																																				0.522	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		8	699						8	699	---	---	---	---
CYBA	1535	broad.mit.edu	37	16	88712527	88712527	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr16:88712527delT	ENST00000261623.3	-	5	504	c.366delA	c.(364-366)ctafs	p.L123fs	CYBA_ENST00000569359.1_Frame_Shift_Del_p.L123fs|CYBA_ENST00000561972.1_5'Flank|CYBA_ENST00000567174.1_Frame_Shift_Del_p.L123fs	NM_000101.3	NP_000092.2	P13498	CY24A_HUMAN	cytochrome b-245, alpha polypeptide	123					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)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|cytochrome complex assembly (GO:0017004)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|negative regulation of glomerular filtration by angiotensin (GO:0003106)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of cell growth (GO:0030307)|positive regulation of endothelial cell proliferation (GO:0001938)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|response to nutrient levels (GO:0031667)|smooth muscle hypertrophy (GO:0014895)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|secretory granule (GO:0030141)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)	Dextromethorphan(DB00514)	CACTCACCAGTAGGTAGATGC	0.701																																						ENST00000569359.1																			0				endometrium(1)|liver(1)	2						c.(364-366)ctfs		cytochrome b-245, alpha polypeptide							16.0	17.0	17.0					16																	88712527		2127	4211	6338	SO:0001589	frameshift_variant	1535				cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding	g.chr16:88712527delT		CCDS32504.1	16q24	2014-09-17				ENSG00000051523		"""Cytochrome b genes"""	2577	protein-coding gene	gene with protein product	"""flavocytochrome b-558 alpha polypeptide"""	608508				2243141	Standard	NM_000101		Approved	p22-PHOX	uc002flb.4	P13498		ENST00000261623.3:c.366delA	16.37:g.88712527delT	ENSP00000261623:p.Leu123fs					CYBA_ENST00000567174.1_Frame_Shift_Del_p.L123fs|CYBA_ENST00000261623.3_Frame_Shift_Del_p.L123fs	p.L123fs			P13498	CY24A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	5	382	-			123					Q14090|Q9BR72	Frame_Shift_Del	DEL	ENST00000261623.3	37	c.366delA	CCDS32504.1																																																																																				0.701	CYBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422765.1	NM_000101		2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76937737	76937740	+	Frame_Shift_Del	DEL	TTAA	TTAA	-			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:76937737_76937740delTTAA	ENST00000373344.5	-	9	3222_3225	c.3008_3011delTTAA	c.(3007-3012)attaaafs	p.IK1003fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.IK965fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1003					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						TTGTTCCATTTTAATTACTTTTTT	0.328			"""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						c.(3007-3012)aafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	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:76937737_76937740delTTAA	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.3008_3011delTTAA	X.37:g.76937737_76937740delTTAA	ENSP00000362441:p.Ile1003fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.IK965fs	p.IK1003fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3222_3225	-			1003					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3008_3011delTTAA	CCDS14434.1																																																																																				0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		179	298						179	298	---	---	---	---
SPANXN2	494119	broad.mit.edu	37	X	142803692	142803692	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:142803692delT	ENST00000370498.1	-	1	824	c.71delA	c.(70-72)aatfs	p.N24fs		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	24										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.443																																						ENST00000370498.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(70-72)atfs		SPANX family, member N2				0,17,3704		0,0,0,1,12,3,1579,534	214.0	197.0	202.0			-0.2	0.0	X		204	1,105,6378		0,0,1,7,61,30,2288,1740	no	codingComplex	SPANXN2	NM_001009615.1		0,0,1,8,73,33,3867,2274	A1A1,A1A2,A1R,A2A2,A2R,A2,RR,R		1.6348,0.4569,1.2053			142803692	1,122,10082	2203	4300	6503	SO:0001589	frameshift_variant	494119							g.chrX:142803692delT		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.71delA	X.37:g.142803692delT	ENSP00000359529:p.Asn24fs						p.N24fs	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			1	824	-	Acute lymphoblastic leukemia(192;6.56e-05)		24					Q0ZNM2	Frame_Shift_Del	DEL	ENST00000370498.1	37	c.71delA	CCDS35419.1																																																																																				0.443	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		7	492						7	492	---	---	---	---
