#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_ACHILLES_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
Unknown	0	broad.mit.edu	37	1	13183742	13183742	+	IGR	SNP	G	G	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr1:13183742G>A								RP13-221M14.3 (19274 upstream) : PRAMEF26 (32613 downstream)																							AGAGCAGCCCGCAATTTTGCC	0.478																																							uc010obg.1		NA																	0					0						c.(130-132)GCG>GTG		heterogeneous nuclear ribonucleoprotein C-like							28.0	23.0	24.0					1																	13183742		691	1590	2281	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183742G>A																													1.37:g.13183742G>A							p.A44V	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	226	-			44						Missense_Mutation	SNP		37	c.131C>T																																																																																				0	0.478									9	55	0	0	0	0.069234	0	9	55				
PI4KB	5298	broad.mit.edu	37	1	151271344	151271344	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr1:151271344T>C	ENST00000368873.1	-	9	2123	c.1955A>G	c.(1954-1956)aAt>aGt	p.N652S	PI4KB_ENST00000368872.1_Missense_Mutation_p.N637S|RN7SL444P_ENST00000578948.1_RNA|PI4KB_ENST00000368875.2_Missense_Mutation_p.N664S|PI4KB_ENST00000271657.5_Missense_Mutation_p.N664S|PI4KB_ENST00000368874.4_Missense_Mutation_p.N637S|PI4KB_ENST00000529142.1_Missense_Mutation_p.N320S			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	652	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269, ECO:0000305}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.N664S(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTGCACAAAATTGCGCTGTGC	0.507																																					Colon(154;765 1838 9854 28443 37492)	Colon(154;765 1838 9854 28443 37492)	uc001ext.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1954-1956)AAT>AGT		catalytic phosphatidylinositol 4-kinase beta							210.0	198.0	202.0					1																	151271344		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151271344T>C	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1955A>G	1.37:g.151271344T>C	ENSP00000357867:p.Asn652Ser					PI4KB_uc001exr.2_Missense_Mutation_p.N664S|PI4KB_uc001exs.2_Missense_Mutation_p.N637S|PI4KB_uc001exu.2_Missense_Mutation_p.N637S|PI4KB_uc010pcw.1_Missense_Mutation_p.N320S	p.N652S	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	2370	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		652			PI3K/PI4K.		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.1955A>G		.	.	.	.	.	.	.	.	.	.	T	15.62	2.886360	0.51908	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000455060;ENST00000489889	T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.95	4.83	0.62350	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.130480	0.64402	D	0.000002	T	0.80232	0.4585	M	0.90425	3.115	0.80722	D	1	P;P;B	0.42785	0.669;0.79;0.332	P;B;B	0.48089	0.566;0.377;0.132	T	0.83328	-0.0014	10	0.72032	D	0.01	-11.5477	11.0508	0.47889	0.0:0.073:0.0:0.927	.	652;637;320	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	S	637;664;664;652;320;637;42;56	ENSP00000357868:N637S;ENSP00000357869:N664S;ENSP00000271657:N664S;ENSP00000357867:N652S;ENSP00000433149:N320S;ENSP00000357866:N637S;ENSP00000410974:N42S;ENSP00000432426:N56S	ENSP00000271657:N664S	N	-	2	0	PI4KB	149537968	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	3.874000	0.56101	1.072000	0.40860	0.533000	0.62120	AAT		0.507	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		18	201	0	0	0	0.0333	0	18	201				
USH2A	7399	broad.mit.edu	37	1	216419957	216419957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr1:216419957G>A	ENST00000307340.3	-	13	3165	c.2779C>T	c.(2779-2781)Caa>Taa	p.Q927*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.Q927*|USH2A_ENST00000366942.3_Nonsense_Mutation_p.Q927*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	927	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.Q927*(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTCTTCCTTGACGATTAGGC	0.433										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(2779-2781)CAA>TAA		usherin isoform B							170.0	166.0	167.0					1																	216419957		2203	4300	6503	SO:0001587	stop_gained	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216419957G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2779C>T	1.37:g.216419957G>A	ENSP00000305941:p.Gln927*	HNSCC(13;0.011)				USH2A_uc001hkv.2_Nonsense_Mutation_p.Q927*	p.Q927*	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	13	3166	-			927			Laminin EGF-like 8.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.2779C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	44	10.959199	0.99494	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	.	.	.	6.03	6.03	0.97812	.	0.000000	0.41294	D	0.000905	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	.	.	.	X	927	.	ENSP00000305941:Q927X	Q	-	1	0	USH2A	214486580	1.000000	0.71417	0.967000	0.41034	0.991000	0.79684	3.752000	0.55172	2.861000	0.98227	0.655000	0.94253	CAA		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		6	117	0	0	0	0.02938	0	6	117				
ARHGAP21	57584	broad.mit.edu	37	10	24896491	24896491	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr10:24896491G>A	ENST00000396432.2	-	11	3107	c.2621C>T	c.(2620-2622)tCa>tTa	p.S874L	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.S661L|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	873					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.S873L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTCTGTCTTTGAGTTGGGCTG	0.358																																							uc001isb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)	8						c.(2620-2622)TCA>TTA		Rho GTPase activating protein 21							100.0	99.0	99.0					10																	24896491		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24896491G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2621C>T	10.37:g.24896491G>A	ENSP00000379709:p.Ser874Leu					ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.S874L|ARHGAP21_uc010qdc.1_Missense_Mutation_p.S709L	p.S874L	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			11	3108	-			873					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.2621C>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452576	0.63290	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.64	5.64	0.86602	.	0.449885	0.23803	N	0.044404	T	0.33760	0.0874	L	0.34521	1.04	0.36744	D	0.882363	P;P	0.43826	0.818;0.757	B;B	0.39840	0.311;0.293	T	0.34725	-0.9817	10	0.54805	T	0.06	.	20.0769	0.97748	0.0:0.0:1.0:0.0	.	864;873	F8W9U9;Q5T5U3	.;RHG21_HUMAN	L	874;661;864;874;709	ENSP00000379709:S874L;ENSP00000365604:S661L;ENSP00000365592:S864L;ENSP00000405018:S874L	ENSP00000365604:S661L	S	-	2	0	ARHGAP21	24936497	1.000000	0.71417	0.991000	0.47740	0.953000	0.61014	5.481000	0.66826	2.820000	0.97059	0.650000	0.86243	TCA		0.358	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		4	114	0	0	0	0.014758	0	4	114				
CREM	1390	broad.mit.edu	37	10	35468111	35468111	+	Missense_Mutation	SNP	G	G	C			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr10:35468111G>C	ENST00000395895.2	+	6	625	c.463G>C	c.(463-465)Gaa>Caa	p.E155Q	CREM_ENST00000463314.1_Intron|CREM_ENST00000342105.3_Missense_Mutation_p.E51Q|CREM_ENST00000337656.4_Missense_Mutation_p.E106Q|CREM_ENST00000374728.3_Missense_Mutation_p.E90Q|CREM_ENST00000395887.3_Missense_Mutation_p.E76Q|CREM_ENST00000374721.3_Missense_Mutation_p.E139Q|CREM_ENST00000474362.1_Intron|CREM_ENST00000333809.8_Missense_Mutation_p.E155Q|CREM_ENST00000489388.1_3'UTR|CREM_ENST00000463960.1_Missense_Mutation_p.E51Q|CREM_ENST00000354759.3_Missense_Mutation_p.E106Q|CREM_ENST00000460270.1_Intron|CREM_ENST00000489321.1_Missense_Mutation_p.E90Q|CREM_ENST00000484283.1_Missense_Mutation_p.E76Q|CREM_ENST00000348787.2_Missense_Mutation_p.E90Q|CREM_ENST00000345491.3_Missense_Mutation_p.E106Q|CREM_ENST00000361599.4_Missense_Mutation_p.E76Q|CREM_ENST00000429130.3_Missense_Mutation_p.E139Q|CREM_ENST00000374726.3_Missense_Mutation_p.E90Q|CREM_ENST00000479070.1_Missense_Mutation_p.E106Q|CREM_ENST00000439705.1_Missense_Mutation_p.E155Q|CREM_ENST00000374734.3_Missense_Mutation_p.E106Q			Q03060	CREM_HUMAN	cAMP responsive element modulator	155	KID. {ECO:0000255|PROSITE- ProRule:PRU00312}.				cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E106Q(1)|p.E90Q(1)|p.E76Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						TCCCAAGATTGAAGAAGAGAG	0.393																																							uc001iyb.2		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(316-318)GAA>CAA		cAMP responsive element modulator isoform a							127.0	110.0	116.0					10																	35468111		2203	4300	6503	SO:0001583	missense	1390				cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:35468111G>C		CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.463G>C	10.37:g.35468111G>C	ENSP00000379232:p.Glu155Gln					CREM_uc001ixx.2_Missense_Mutation_p.E90Q|CREM_uc001ixy.2_Intron|CREM_uc001ixz.2_Intron|CREM_uc001iya.2_Missense_Mutation_p.E106Q|CREM_uc001iyc.2_Missense_Mutation_p.E90Q|CREM_uc001iyd.2_Missense_Mutation_p.E106Q|CREM_uc001iye.2_Missense_Mutation_p.E106Q|CREM_uc001iyf.2_Missense_Mutation_p.E76Q|CREM_uc001iyg.2_Missense_Mutation_p.E76Q|CREM_uc001iyh.2_Missense_Mutation_p.E51Q|CREM_uc001iyi.2_Missense_Mutation_p.E51Q|CREM_uc001iyj.2_5'UTR|CREM_uc001iyk.2_5'UTR	p.E106Q	NM_181571	NP_853549	Q03060	CREM_HUMAN			5	478	+			155			KID.		A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Missense_Mutation	SNP	ENST00000395895.2	37	c.316G>C		.	.	.	.	.	.	.	.	.	.	G	27.7	4.856907	0.91433	.	.	ENSG00000095794	ENST00000374726;ENST00000354759;ENST00000489321;ENST00000427847;ENST00000345491;ENST00000395895;ENST00000374728;ENST00000487132;ENST00000333809;ENST00000439705;ENST00000374734;ENST00000337656;ENST00000479070;ENST00000462058;ENST00000429130;ENST00000490263;ENST00000374721;ENST00000348787;ENST00000374722;ENST00000361599;ENST00000484283;ENST00000395887;ENST00000342105;ENST00000463960	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.93	5.93	0.95920	Coactivator CBP, pKID (2);	0.058143	0.64402	D	0.000002	D	0.87993	0.6318	M	0.68952	2.095	0.41882	D	0.99032	D;P;D;P;D;D;D;D;D;D	0.76494	0.998;0.628;0.957;0.923;0.999;0.993;0.998;0.992;0.988;0.999	D;P;P;P;D;D;D;D;D;D	0.91635	0.974;0.581;0.761;0.761;0.999;0.957;0.975;0.929;0.923;0.985	D	0.87665	0.2537	10	0.62326	D	0.03	1.327	20.3495	0.98807	0.0:0.0:1.0:0.0	.	155;51;76;76;106;106;90;106;106;90	Q03060;Q03060-7;Q03060-13;Q03060-12;A8MPQ2;E9PHM1;Q5W1A7;Q03060-16;Q5W1B0;Q96AG7	CREM_HUMAN;.;.;.;.;.;.;.;.;.	Q	90;106;90;106;106;155;90;90;155;155;106;106;106;139;139;139;139;90;139;76;76;76;51;51	ENSP00000363858:E90Q;ENSP00000346804:E106Q;ENSP00000419924:E90Q;ENSP00000403938:E106Q;ENSP00000265372:E106Q;ENSP00000379232:E155Q;ENSP00000363860:E90Q;ENSP00000418798:E90Q;ENSP00000333055:E155Q;ENSP00000409220:E155Q;ENSP00000363866:E106Q;ENSP00000337138:E106Q;ENSP00000420511:E106Q;ENSP00000393538:E139Q;ENSP00000363853:E139Q;ENSP00000345384:E90Q;ENSP00000354593:E76Q;ENSP00000417165:E76Q;ENSP00000379225:E76Q;ENSP00000341875:E51Q;ENSP00000419684:E51Q	ENSP00000333055:E155Q	E	+	1	0	CREM	35508117	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.583000	0.98217	2.814000	0.96858	0.591000	0.81541	GAA		0.393	CREM-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001881		3	76	0	0	0	0.004672	0	3	76				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																							uc010qex.1		NA																	0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	65	0	0	0	0.004672	0	3	65				
RTKN2	219790	broad.mit.edu	37	10	64000899	64000899	+	Splice_Site	SNP	A	A	G			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr10:64000899A>G	ENST00000373789.3	-	4	467		c.e4+1		RTKN2_ENST00000395260.3_Splice_Site|RTKN2_ENST00000395265.1_Splice_Site	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2						hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AATCATACATACGTTCTTTAT	0.289																																							uc001jlw.2		NA																	1	Unknown(1)		lung(1)		0						c.e4+1		rhotekin 2							47.0	48.0	48.0					10																	64000899		2201	4284	6485	SO:0001630	splice_region_variant	219790				signal transduction	intracellular		g.chr10:64000899A>G	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.370+1T>C	10.37:g.64000899A>G						RTKN2_uc001jlx.2_Splice_Site_p.R124_splice	p.R124_splice	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN			4	467	-	Prostate(12;0.0297)|all_hematologic(501;0.215)							Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Splice_Site	SNP	ENST00000373789.3	37	c.370_splice	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.209656	0.79240	.	.	ENSG00000182010	ENST00000395265;ENST00000373789;ENST00000395260	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.19	0.81981	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RTKN2	63670905	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.480000	0.81109	2.225000	0.72522	0.460000	0.39030	.		0.289	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307	Intron	3	35	0	0	0	0.004672	0	3	35				
DEAF1	10522	broad.mit.edu	37	11	679720	679720	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr11:679720G>A	ENST00000382409.3	-	8	1578	c.1094C>T	c.(1093-1095)cCg>cTg	p.P365L	RP11-754B17.1_ENST00000527799.1_RNA|DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Missense_Mutation_p.P276L	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	365					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P365L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GCCCTGGGCCGGACTCTCTGA	0.637																																							uc001lqq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1093-1095)CCG>CTG		deformed epidermal autoregulatory factor 1							80.0	71.0	74.0					11																	679720		2203	4300	6503	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:679720G>A	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.1094C>T	11.37:g.679720G>A	ENSP00000371846:p.Pro365Leu					DEAF1_uc009ycf.1_RNA	p.P365L	NM_021008	NP_066288	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	8	1787	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	365					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.1094C>T	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089249	0.76756	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.69175	-0.38	3.49	3.49	0.39957	.	0.079517	0.52532	D	0.000075	T	0.72479	0.3465	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.76838	-0.2811	10	0.87932	D	0	-14.4826	14.3254	0.66515	0.0:0.0:1.0:0.0	.	365	O75398	DEAF1_HUMAN	L	365;276;351;288	ENSP00000371846:P365L	ENSP00000341902:P276L	P	-	2	0	DEAF1	669720	1.000000	0.71417	0.464000	0.27143	0.693000	0.40251	8.737000	0.91562	1.975000	0.57531	0.557000	0.71058	CCG		0.637	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		6	41	0	0	0	0.02938	0	6	41				
NUP98	4928	broad.mit.edu	37	11	3704561	3704561	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr11:3704561G>A	ENST00000324932.7	-	30	5207	c.4787C>T	c.(4786-4788)gCc>gTc	p.A1596V	NUP98_ENST00000359171.4_Missense_Mutation_p.A1522V|NUP98_ENST00000355260.3_Missense_Mutation_p.A1522V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1613					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.A1596V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GATCCATTTGGCAGGTACACG	0.537			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																		uc001lyh.2		NA		Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(4786-4788)GCC>GTC		nucleoporin 98kD isoform 1							137.0	125.0	129.0					11																	3704561		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3704561G>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4787C>T	11.37:g.3704561G>A	ENSP00000316032:p.Ala1596Val					NUP98_uc001lyi.2_Missense_Mutation_p.A1522V|NUP98_uc001lyg.2_Missense_Mutation_p.A561V	p.A1596V	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	30	5078	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1613					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.4787C>T	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015409	0.35511	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260	.	.	.	6.14	6.14	0.99180	.	0.122178	0.56097	D	0.000031	T	0.41673	0.1169	N	0.25825	0.765	0.25345	N	0.988917	D;P;P	0.53462	0.96;0.702;0.617	P;B;B	0.48425	0.577;0.169;0.207	T	0.26950	-1.0088	9	0.30078	T	0.28	-18.0591	19.8479	0.96722	0.0:0.0:1.0:0.0	.	1522;1596;1510	P52948-2;P52948-5;P52948-6	.;.;.	V	1596;1522;1522	.	ENSP00000316032:A1596V	A	-	2	0	NUP98	3661137	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	5.421000	0.66447	2.937000	0.99478	0.650000	0.86243	GCC		0.537	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		22	71	0	0	0	0.083992	0	22	71				
OR1S1	219959	broad.mit.edu	37	11	57982677	57982677	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr11:57982677G>A	ENST00000309433.6	+	1	461	c.461G>A	c.(460-462)gGc>gAc	p.G154D		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CCCAGGTTCGGCATTTTGCTC	0.468																																							uc010rkc.1		NA																	0				breast(1)	1						c.(460-462)GGC>GAC		olfactory receptor, family 1, subfamily S,							203.0	194.0	197.0					11																	57982677		2201	4296	6497	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982677G>A	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.461G>A	11.37:g.57982677G>A	ENSP00000311688:p.Gly154Asp						p.G154D	NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN			1	461	+		Breast(21;0.0589)	154			Helical; Name=4; (Potential).		Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.461G>A	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	G	9.631	1.136374	0.21123	.	.	ENSG00000172774	ENST00000309433	T	0.38077	1.16	3.45	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.118214	0.38548	N	0.001648	T	0.27559	0.0677	N	0.19112	0.55	0.09310	N	0.999995	P	0.39424	0.673	B	0.40565	0.333	T	0.26643	-1.0097	10	0.87932	D	0	.	14.1	0.65049	0.0:0.0:1.0:0.0	.	154	Q8NH92	OR1S1_HUMAN	D	154	ENSP00000311688:G154D	ENSP00000311688:G154D	G	+	2	0	OR1S1	57739253	0.983000	0.35010	0.064000	0.19789	0.156000	0.22039	4.630000	0.61297	1.770000	0.52166	0.479000	0.44913	GGC		0.468	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		4	235	0	0	0	0.009096	0	4	235				
FERMT3	83706	broad.mit.edu	37	11	63990575	63990575	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr11:63990575C>T	ENST00000279227.5	+	14	1833	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C	FERMT3_ENST00000345728.5_Missense_Mutation_p.R576C|TRPT1_ENST00000540472.1_5'Flank	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	580					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)	p.R580C(1)|p.R576C(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CCGACTGATCCGCATCGACTT	0.627																																							uc001nyl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1738-1740)CGC>TGC		fermitin family homolog 3 long form							109.0	83.0	92.0					11																	63990575		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63990575C>T	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1738C>T	11.37:g.63990575C>T	ENSP00000279227:p.Arg580Cys					FERMT3_uc001nym.2_Missense_Mutation_p.R576C	p.R580C	NM_178443	NP_848537	Q86UX7	URP2_HUMAN			14	1887	+			580					Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.1738C>T	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207971	0.95033	.	.	ENSG00000149781	ENST00000345728;ENST00000279227;ENST00000545896	T;T;T	0.77620	-1.11;-1.11;-1.11	5.19	5.19	0.71726	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.88768	0.6526	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.90070	0.4162	10	0.87932	D	0	-23.8856	17.8551	0.88760	0.0:1.0:0.0:0.0	.	576;580	Q86UX7-2;Q86UX7	.;URP2_HUMAN	C	576;580;97	ENSP00000339950:R576C;ENSP00000279227:R580C;ENSP00000440209:R97C	ENSP00000279227:R580C	R	+	1	0	FERMT3	63747151	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.742000	0.55097	2.591000	0.87537	0.561000	0.74099	CGC		0.627	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		6	61	0	0	0	0.021553	0	6	61				
ABCC9	10060	broad.mit.edu	37	12	22068751	22068751	+	Silent	SNP	G	G	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr12:22068751G>A	ENST00000261201.4	-	5	666	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	ABCC9_ENST00000345162.2_Silent_p.L223L|ABCC9_ENST00000261200.4_Silent_p.L223L	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	223					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.L223L(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GCTTTTGACAGCAAATTCACA	0.393																																							uc001rfi.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(667-669)CTG>TTG		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						104.0	98.0	100.0					12																	22068751		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22068751G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.667C>T	12.37:g.22068751G>A						ABCC9_uc001rfh.2_Silent_p.L223L|ABCC9_uc001rfj.1_Silent_p.L223L	p.L223L	NM_005691	NP_005682	O60706	ABCC9_HUMAN			5	687	-			223			Cytoplasmic (Potential).		O60707	Silent	SNP	ENST00000261201.4	37	c.667C>T	CCDS8694.1																																																																																				0.393	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		3	79	0	0	0	0.004672	0	3	79				
LRRK2	120892	broad.mit.edu	37	12	40761481	40761481	+	Missense_Mutation	SNP	C	C	G			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr12:40761481C>G	ENST00000298910.7	+	51	7556	c.7498C>G	c.(7498-7500)Ctt>Gtt	p.L2500V		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2500					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.L2507V(1)|p.L2500V(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGACATCAATCTTCCACATGA	0.303																																							uc001rmg.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(7498-7500)CTT>GTT		leucine-rich repeat kinase 2							56.0	59.0	58.0					12																	40761481		2202	4297	6499	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40761481C>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7498C>G	12.37:g.40761481C>G	ENSP00000298910:p.Leu2500Val					LRRK2_uc009zjw.2_Missense_Mutation_p.L1338V|LRRK2_uc001rmi.2_3'UTR	p.L2500V	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			51	7619	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2500					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.7498C>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536373	0.65085	.	.	ENSG00000188906	ENST00000298910	T	0.80304	-1.36	5.3	4.41	0.53225	WD40 repeat-like-containing domain (1);	0.064020	0.64402	D	0.000005	T	0.81777	0.4894	M	0.68952	2.095	0.42755	D	0.993787	D;D	0.58268	0.982;0.982	P;P	0.47118	0.538;0.538	D	0.84148	0.0421	10	0.72032	D	0.01	.	13.7419	0.62853	0.0:0.9259:0.0:0.0741	.	2500;2500	Q17RV3;Q5S007	.;LRRK2_HUMAN	V	2500	ENSP00000298910:L2500V	ENSP00000298910:L2500V	L	+	1	0	LRRK2	39047748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.999000	0.57031	1.232000	0.43678	0.561000	0.74099	CTT		0.303	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		3	72	0	0	0	0.004672	0	3	72				
PRIM1	5557	broad.mit.edu	37	12	57128024	57128024	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr12:57128024T>A	ENST00000338193.6	-	12	1186	c.1150A>T	c.(1150-1152)Aag>Tag	p.K384*		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	384					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.K384*(1)		kidney(1)|lung(6)|prostate(1)	8						CTGGTCTTCTTATAATCTAAA	0.323																																							uc001smd.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1150-1152)AAG>TAG		DNA primase polypeptide 1							54.0	52.0	53.0					12																	57128024		1807	4067	5874	SO:0001587	stop_gained	5557				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding	g.chr12:57128024T>A	BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.1150A>T	12.37:g.57128024T>A	ENSP00000350491:p.Lys384*						p.K384*	NM_000946	NP_000937	P49642	PRI1_HUMAN			12	1214	-			384						Nonsense_Mutation	SNP	ENST00000338193.6	37	c.1150A>T	CCDS44926.1	.	.	.	.	.	.	.	.	.	.	T	34	5.411813	0.96072	.	.	ENSG00000198056	ENST00000537418;ENST00000338193	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6144	13.2065	0.59800	0.0:0.0:0.0:1.0	.	.	.	.	X	391;384	.	ENSP00000350491:K384X	K	-	1	0	PRIM1	55414291	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	6.744000	0.74854	2.086000	0.62901	0.397000	0.26171	AAG		0.323	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406956.1	NM_000946		6	25	0	0	0	0.02938	0	6	25				
EXOC3L4	91828	broad.mit.edu	37	14	103574737	103574737	+	Missense_Mutation	SNP	C	C	G			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr14:103574737C>G	ENST00000380069.3	+	10	1935	c.1859C>G	c.(1858-1860)tCc>tGc	p.S620C		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	620					exocytosis (GO:0006887)	exocyst (GO:0000145)		p.S620C(1)		cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						TCGCAGGGTTCCGAGGCCACA	0.637																																							uc001ymk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1858-1860)TCC>TGC		hypothetical protein LOC91828							135.0	120.0	125.0					14																	103574737		2203	4300	6503	SO:0001583	missense	91828							g.chr14:103574737C>G	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.1859C>G	14.37:g.103574737C>G	ENSP00000369409:p.Ser620Cys						p.S620C	NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Epithelial(46;0.221)		10	1935	+		Melanoma(154;0.155)	620					Q14CR2	Missense_Mutation	SNP	ENST00000380069.3	37	c.1859C>G	CCDS32163.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055808	0.55325	.	.	ENSG00000205436	ENST00000380069	T	0.09073	3.02	4.14	4.14	0.48551	.	0.000000	0.64402	D	0.000001	T	0.25717	0.0626	M	0.71581	2.175	0.50467	D	0.99987	D	0.89917	1.0	D	0.80764	0.994	T	0.00936	-1.1508	10	0.87932	D	0	-7.8661	11.8054	0.52152	0.0:1.0:0.0:0.0	.	620	Q17RC7	EX3L4_HUMAN	C	620	ENSP00000369409:S620C	ENSP00000369409:S620C	S	+	2	0	EXOC3L4	102644490	0.949000	0.32298	0.890000	0.34922	0.435000	0.31806	2.329000	0.43876	2.133000	0.65898	0.462000	0.41574	TCC		0.637	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		10	117	0	0	0	0.058154	0	10	117				
FAM81A	145773	broad.mit.edu	37	15	59801128	59801128	+	Missense_Mutation	SNP	C	C	G			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr15:59801128C>G	ENST00000288228.5	+	6	797	c.610C>G	c.(610-612)Cac>Gac	p.H204D		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	204								p.H201D(1)		endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						GAAGATGTCTCACAGAGACAG	0.338																																							uc002agc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(610-612)CAC>GAC		hypothetical protein LOC145773							76.0	70.0	72.0					15																	59801128		1820	4079	5899	SO:0001583	missense	145773							g.chr15:59801128C>G		CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.610C>G	15.37:g.59801128C>G	ENSP00000288228:p.His204Asp						p.H204D	NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN			6	797	+			204						Missense_Mutation	SNP	ENST00000288228.5	37	c.610C>G	CCDS45269.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348353	0.41599	.	.	ENSG00000157470	ENST00000288228	T	0.27890	1.64	5.73	5.73	0.89815	.	0.079800	0.53938	D	0.000047	T	0.32734	0.0839	L	0.36672	1.1	0.37501	D	0.91677	D	0.56968	0.978	P	0.50659	0.647	T	0.19647	-1.0299	10	0.59425	D	0.04	-25.1412	10.196	0.43054	0.0:0.9061:0.0:0.0939	.	204	Q8TBF8	FA81A_HUMAN	D	204	ENSP00000288228:H204D	ENSP00000288228:H204D	H	+	1	0	FAM81A	57588420	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.325000	0.52030	2.714000	0.92807	0.561000	0.74099	CAC		0.338	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415876.1	NM_152450		3	53	0	0	0	0.004672	0	3	53				
TRIP4	9325	broad.mit.edu	37	15	64717779	64717779	+	Silent	SNP	G	G	T			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr15:64717779G>T	ENST00000261884.3	+	11	1584	c.1524G>T	c.(1522-1524)ctG>ctT	p.L508L		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	508					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L508L(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						GTTGTCTTCTGGGCTGTGTGG	0.383																																							uc002anm.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(1522-1524)CTG>CTT		thyroid hormone receptor interactor 4							125.0	127.0	127.0					15																	64717779		2203	4300	6503	SO:0001819	synonymous_variant	9325				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding	g.chr15:64717779G>T	L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"""-"""	12310	protein-coding gene	gene with protein product	"""zinc finger, C2HC5-type"""	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.1524G>T	15.37:g.64717779G>T							p.L508L	NM_016213	NP_057297	Q15650	TRIP4_HUMAN			11	1567	+			508					B2RAS0|Q96ED7|Q9UKH0	Silent	SNP	ENST00000261884.3	37	c.1524G>T	CCDS10194.1																																																																																				0.383	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2	NM_016213		35	106	1	0	9.73076e-26	0.092188	1.0866e-25	35	106				
FANCI	55215	broad.mit.edu	37	15	89824490	89824490	+	Silent	SNP	C	C	T			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr15:89824490C>T	ENST00000310775.7	+	15	1557	c.1471C>T	c.(1471-1473)Ctg>Ttg	p.L491L	FANCI_ENST00000300027.8_Silent_p.L491L	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	491					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.L491L(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTTGTCCTTTCTGCCCCTTCA	0.413								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														uc010bnp.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1471-1473)CTG>TTG	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group I isoform							173.0	162.0	166.0					15																	89824490		2200	4299	6499	SO:0001819	synonymous_variant	55215	FanconAnemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89824490C>T	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.1471C>T	15.37:g.89824490C>T						FANCI_uc002bnm.1_Silent_p.L491L|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.L312L|FANCI_uc002bnq.1_5'UTR	p.L491L	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN			15	1561	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		491					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Silent	SNP	ENST00000310775.7	37	c.1471C>T	CCDS45346.1																																																																																				0.413	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		4	160	0	0	0	0.009096	0	4	160				
MLST8	64223	broad.mit.edu	37	16	2258828	2258828	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr16:2258828C>T	ENST00000569417.1	+	9	1285	c.931C>T	c.(931-933)Cac>Tac	p.H311Y	MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000301724.10_3'UTR|MLST8_ENST00000565250.1_Missense_Mutation_p.H311Y|MLST8_ENST00000564088.1_Missense_Mutation_p.H311Y|MLST8_ENST00000397124.1_Missense_Mutation_p.H311Y|MLST8_ENST00000382450.4_Missense_Mutation_p.H310Y	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	311					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.H311Y(1)		large_intestine(3)|lung(2)|skin(1)	6						GTATGGCGGCCACCAGAAGGC	0.622																																							uc002coz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(931-933)CAC>TAC		G protein beta subunit-like							104.0	124.0	118.0					16																	2258828		2092	4219	6311	SO:0001583	missense	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2258828C>T		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.931C>T	16.37:g.2258828C>T	ENSP00000456405:p.His311Tyr					MLST8_uc002cpa.2_Missense_Mutation_p.H127Y|MLST8_uc002cpb.2_Missense_Mutation_p.H310Y|MLST8_uc010uvx.1_Missense_Mutation_p.H245Y|MLST8_uc002cpc.2_Missense_Mutation_p.H311Y|MLST8_uc002cpd.2_Missense_Mutation_p.H245Y|MLST8_uc002cpe.2_Missense_Mutation_p.H311Y|MLST8_uc002cpg.2_Missense_Mutation_p.H330Y|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Missense_Mutation_p.H311Y	p.H311Y	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN			9	1050	+			311					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	c.931C>T	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	C	31	5.070852	0.93950	.	.	ENSG00000167965	ENST00000382450;ENST00000397124	T	0.53206	0.63	4.98	4.98	0.66077	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.76983	0.4064	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.84076	0.0382	9	0.87932	D	0	.	16.8313	0.85945	0.0:1.0:0.0:0.0	.	245;311	Q9BVC4-3;Q9BVC4	.;LST8_HUMAN	Y	311	ENSP00000380313:H311Y	ENSP00000371888:H311Y	H	+	1	0	MLST8	2198829	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.749000	0.85096	2.310000	0.77875	0.462000	0.41574	CAC		0.622	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		16	197	0	0	0	0.038395	0	16	197				
ABCC12	94160	broad.mit.edu	37	16	48145805	48145805	+	Missense_Mutation	SNP	T	T	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr16:48145805T>A	ENST00000311303.3	-	14	2351	c.2006A>T	c.(2005-2007)gAt>gTt	p.D669V	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.D669V	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	669	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.D669V(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AATAACTTCATCACAAGACTC	0.438																																							uc002efc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2005-2007)GAT>GTT		ATP-binding cassette protein C12							77.0	74.0	75.0					16																	48145805		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48145805T>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2006A>T	16.37:g.48145805T>A	ENSP00000311030:p.Asp669Val					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.D669V	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			14	2352	-		all_cancers(37;0.0474)|all_lung(18;0.047)	669			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2006A>T	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	T	16.30	3.083116	0.55861	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	D;D	0.96041	-3.89;-3.89	5.72	5.72	0.89469	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.048378	0.85682	D	0.000000	D	0.98692	0.9561	H	0.98351	4.21	0.80722	D	1	D	0.69078	0.997	D	0.77557	0.99	D	0.99616	1.0982	10	0.87932	D	0	.	14.9802	0.71306	0.0:0.0:0.0:1.0	.	669	Q96J65	MRP9_HUMAN	V	669;669;611	ENSP00000311030:D669V;ENSP00000401855:D669V	ENSP00000311030:D669V	D	-	2	0	ABCC12	46703306	1.000000	0.71417	0.995000	0.50966	0.106000	0.19336	7.215000	0.77966	2.178000	0.69098	0.459000	0.35465	GAT		0.438	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		9	19	0	0	0	0.069234	0	9	19				
SERPINF1	5176	broad.mit.edu	37	17	1675167	1675167	+	Splice_Site	SNP	G	G	A	rs138341386	byFrequency	TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr17:1675167G>A	ENST00000254722.4	+	5	604	c.441G>A	c.(439-441)aaG>aaA	p.K147K	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	147					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.K147K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						TCTTCTCAGAGCTGCGCATAA	0.562																																							uc002ftl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(439-441)AAG>AAA		serine (or cysteine) proteinase inhibitor, clade							38.0	38.0	38.0					17																	1675167		2203	4300	6503	SO:0001630	splice_region_variant	5176				cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	g.chr17:1675167G>A	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.440-1G>A	17.37:g.1675167G>A						SERPINF1_uc010cjw.2_5'UTR	p.K147K	NM_002615	NP_002606	P36955	PEDF_HUMAN			5	598	+			147					F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Silent	SNP	ENST00000254722.4	37	c.441G>A	CCDS11012.1																																																																																				0.562	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615	Silent	12	12	0	0	0	0.024245	0	12	12				
ATP1B2	482	broad.mit.edu	37	17	7557469	7557469	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr17:7557469C>T	ENST00000250111.4	+	4	853	c.446C>T	c.(445-447)gCc>gTc	p.A149V		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	149					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CCCAAACGTGCCTGCCAATTC	0.542																																							uc002gif.1		NA																	3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|bone(1)	central_nervous_system(1)|pancreas(1)	2						c.(445-447)GCC>GTC		Na+/K+ -ATPase beta 2 subunit							166.0	168.0	167.0					17																	7557469		2203	4300	6503	SO:0001583	missense	482				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	g.chr17:7557469C>T	U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"""ATPases / P-type"""	805	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-2"", ""sodium pump subunit beta-2"", ""sodium-potassium ATPase subunit beta 2 (non-catalytic)"""	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.446C>T	17.37:g.7557469C>T	ENSP00000250111:p.Ala149Val						p.A149V	NM_001678	NP_001669	P14415	AT1B2_HUMAN		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)	4	1029	+		all_cancers(10;0.000178)|Prostate(122;0.081)	149			Extracellular (Potential).		A0AV17|A8K278|D3DTQ2|O60444	Missense_Mutation	SNP	ENST00000250111.4	37	c.446C>T	CCDS32550.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941788	0.92526	.	.	ENSG00000129244	ENST00000250111	T	0.32988	1.43	5.02	5.02	0.67125	.	0.054164	0.85682	D	0.000000	T	0.44435	0.1293	L	0.38953	1.18	0.58432	D	0.999994	D	0.76494	0.999	D	0.66847	0.947	T	0.28839	-1.0031	10	0.45353	T	0.12	0.4245	15.8226	0.78667	0.0:1.0:0.0:0.0	.	149	P14415	AT1B2_HUMAN	V	149	ENSP00000250111:A149V	ENSP00000250111:A149V	A	+	2	0	ATP1B2	7498194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.162000	0.77515	2.330000	0.79161	0.561000	0.74099	GCC		0.542	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1	NM_001678		43	174	0	0	0	0.042209	0	43	174				
SLFN12	55106	broad.mit.edu	37	17	33749738	33749738	+	Missense_Mutation	SNP	G	G	C			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr17:33749738G>C	ENST00000394562.1	-	4	833	c.310C>G	c.(310-312)Ctg>Gtg	p.L104V	SLFN12_ENST00000460530.1_5'Flank|SLFN12_ENST00000304905.5_Missense_Mutation_p.L104V|SLFN12_ENST00000452764.3_Missense_Mutation_p.L104V			Q8IYM2	SLN12_HUMAN	schlafen family member 12	104							ATP binding (GO:0005524)	p.L104V(1)		breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAAAAATCAGAAAGTAGTTA	0.358																																							uc002hji.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(310-312)CTG>GTG		schlafen family member 12							67.0	66.0	66.0					17																	33749738		2203	4300	6503	SO:0001583	missense	55106						ATP binding	g.chr17:33749738G>C	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.310C>G	17.37:g.33749738G>C	ENSP00000378063:p.Leu104Val					SLFN12_uc002hjj.3_Missense_Mutation_p.L104V|SLFN12_uc010cts.2_Missense_Mutation_p.L104V	p.L104V	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	687	-		Ovarian(249;0.17)	104					A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	c.310C>G	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	g	9.397	1.076910	0.20227	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764;ENST00000447040	T;T;T;T	0.26223	3.62;3.62;3.62;1.75	3.27	-0.0323	0.13905	.	.	.	.	.	T	0.25865	0.0630	L	0.60845	1.875	0.09310	N	1	P	0.51057	0.941	P	0.46172	0.506	T	0.13361	-1.0512	9	0.41790	T	0.15	.	5.4329	0.16464	0.6794:0.0:0.3206:0.0	.	104	Q8IYM2	SLN12_HUMAN	V	104	ENSP00000378063:L104V;ENSP00000302077:L104V;ENSP00000394903:L104V;ENSP00000398315:L104V	ENSP00000302077:L104V	L	-	1	2	SLFN12	30773851	0.000000	0.05858	0.013000	0.15412	0.109000	0.19521	-0.474000	0.06607	0.045000	0.15804	0.436000	0.28706	CTG		0.358	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		6	66	0	0	0	0.021553	0	6	66				
LRRC37A2	474170	broad.mit.edu	37	17	44594493	44594493	+	Intron	SNP	G	G	C			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr17:44594493G>C	ENST00000576629.1	+	3	3104				ARL17A_ENST00000445552.2_Silent_p.L122L|ARL17A_ENST00000329240.4_Silent_p.L122L|LRRC37A2_ENST00000333412.3_Intron|ARL17A_ENST00000337845.7_3'UTR			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2							integral component of membrane (GO:0016021)		p.L122L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		ATCTGTCCAAGAGATGGGATG	0.388																																							uc002iko.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(364-366)CTC>CTG		hypothetical protein LOC51326 isoform b																																				SO:0001627	intron_variant	51326				protein transport|vesicle-mediated transport	Golgi apparatus	GTP binding	g.chr17:44594493G>C	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.2610-235G>C	17.37:g.44594493G>C						LRRC37A2_uc002ikn.1_Intron	p.L122L	NM_016632	NP_057716	Q8IVW1	ARL17_HUMAN			4	505	-			Error:Variant_position_missing_in_Q8IVW1_after_alignment					B7ZMC3	Silent	SNP	ENST00000576629.1	37	c.366C>G	CCDS42353.1																																																																																				0.388	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		7	80	0	0	0	0.02938	0	7	80				
SPOP	8405	broad.mit.edu	37	17	47688764	47688764	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr17:47688764A>C	ENST00000393328.2	-	7	901	c.536T>G	c.(535-537)gTa>gGa	p.V179G	SPOP_ENST00000503676.1_Missense_Mutation_p.V179G|SPOP_ENST00000393331.3_Missense_Mutation_p.V179G|SPOP_ENST00000504102.1_Missense_Mutation_p.V179G|SPOP_ENST00000347630.2_Missense_Mutation_p.V179G	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	179	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AGGAACCTTTACCATGTTCAT	0.493										Prostate(2;0.17)																													uc010dbk.2		NA																	0				prostate(2)|ovary(2)|lung(2)	6						c.(535-537)GTA>GGA		speckle-type POZ protein							141.0	145.0	144.0					17																	47688764		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47688764A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.536T>G	17.37:g.47688764A>C	ENSP00000377001:p.Val179Gly	Prostate(2;0.17)				SPOP_uc002ipb.2_Missense_Mutation_p.V179G|SPOP_uc002ipc.2_Missense_Mutation_p.V179G|SPOP_uc002ipd.2_Missense_Mutation_p.V179G|SPOP_uc002ipe.2_Missense_Mutation_p.V179G|SPOP_uc002ipf.2_Missense_Mutation_p.V179G|SPOP_uc002ipg.2_Missense_Mutation_p.V179G	p.V179G	NM_003563	NP_003554	O43791	SPOP_HUMAN			7	1168	-			179			Required for nuclear localization.|BTB.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.536T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.746325	0.69418	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970	T;T;T;T;T;T;T;T	0.73363	-0.63;-0.63;-0.63;-0.63;-0.63;-0.74;0.68;0.81	5.46	5.46	0.80206	BTB/POZ fold (2);	0.058011	0.64402	D	0.000002	D	0.82554	0.5062	L	0.59912	1.85	0.80722	D	1	P	0.43542	0.81	P	0.58391	0.838	D	0.84141	0.0417	10	0.87932	D	0	-10.8006	15.3491	0.74368	1.0:0.0:0.0:0.0	.	179	O43791	SPOP_HUMAN	G	179;179;179;179;63;179;132;179;179;179	ENSP00000377001:V179G;ENSP00000377004:V179G;ENSP00000240327:V179G;ENSP00000425905:V179G;ENSP00000420908:V179G;ENSP00000426986:V179G;ENSP00000420960:V179G;ENSP00000426262:V179G	ENSP00000240327:V179G	V	-	2	0	SPOP	45043763	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	9.080000	0.94040	2.296000	0.77279	0.482000	0.46254	GTA		0.493	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		6	179	0	0	0	0.038147	0	6	179				
EME1	146956	broad.mit.edu	37	17	48452594	48452594	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr17:48452594T>C	ENST00000338165.4	+	2	107	c.25T>C	c.(25-27)Tca>Cca	p.S9P	EME1_ENST00000393271.2_Missense_Mutation_p.S9P|MRPL27_ENST00000442592.3_5'Flank|EME1_ENST00000511648.2_Missense_Mutation_p.S9P|MRPL27_ENST00000225969.4_5'Flank|MRPL27_ENST00000503633.1_5'Flank|MRPL27_ENST00000507088.1_5'Flank	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	9					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.S9P(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			GTCATCACCCTCACTGGATTC	0.428								Direct reversal of damage;Homologous recombination																															uc002iqs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(25-27)TCA>CCA	Direct_reversal_of_damage|Homologous_recombination	essential meiotic endonuclease 1 homolog 1							71.0	68.0	69.0					17																	48452594		2203	4300	6503	SO:0001583	missense	146956				DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding	g.chr17:48452594T>C	BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.25T>C	17.37:g.48452594T>C	ENSP00000339897:p.Ser9Pro					MRPL27_uc002iqq.2_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.1_Missense_Mutation_p.S9P	p.S9P	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		2	98	+	Breast(11;5.62e-19)		9					Q96N62	Missense_Mutation	SNP	ENST00000338165.4	37	c.25T>C	CCDS11565.1	.	.	.	.	.	.	.	.	.	.	T	5.544	0.285199	0.10513	.	.	ENSG00000154920	ENST00000338165;ENST00000393271;ENST00000511519;ENST00000511648	T;T;T;T	0.19669	2.85;2.85;2.13;2.85	4.3	2.04	0.26737	.	0.725585	0.12386	N	0.473461	T	0.23249	0.0562	L	0.34521	1.04	0.09310	N	1	D;D	0.58620	0.983;0.971	P;P	0.56700	0.804;0.641	T	0.09840	-1.0656	10	0.35671	T	0.21	-14.6311	4.4111	0.11434	0.0:0.1033:0.2011:0.6956	.	9;9	Q96AY2-2;Q96AY2	.;EME1_HUMAN	P	9	ENSP00000339897:S9P;ENSP00000376952:S9P;ENSP00000423029:S9P;ENSP00000421700:S9P	ENSP00000339897:S9P	S	+	1	0	EME1	45807593	0.072000	0.21174	0.008000	0.14137	0.030000	0.12068	0.919000	0.28692	0.419000	0.25927	0.533000	0.62120	TCA		0.428	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463		6	98	0	0	0	0.021553	0	6	98				
LPIN2	9663	broad.mit.edu	37	18	2954540	2954540	+	Missense_Mutation	SNP	C	C	G			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr18:2954540C>G	ENST00000261596.4	-	3	488	c.250G>C	c.(250-252)Gga>Cga	p.G84R	RP11-737O24.2_ENST00000584431.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	84	N-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)	p.G84R(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		AAAGCTTCTCCGTTATCACCC	0.433																																							uc002klo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(250-252)GGA>CGA		lipin 2							143.0	133.0	136.0					18																	2954540		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2954540C>G	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.250G>C	18.37:g.2954540C>G	ENSP00000261596:p.Gly84Arg						p.G84R	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	3	489	-			84			N-LIP.		A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.250G>C	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017168	0.93404	.	.	ENSG00000101577	ENST00000261596;ENST00000455369;ENST00000455221	D	0.90261	-2.64	5.53	5.53	0.82687	Lipin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97155	0.9070	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98096	1.0412	10	0.87932	D	0	-15.6762	19.4895	0.95044	0.0:1.0:0.0:0.0	.	84	Q92539	LPIN2_HUMAN	R	84;84;121	ENSP00000261596:G84R	ENSP00000261596:G84R	G	-	1	0	LPIN2	2944540	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.729000	0.84864	2.596000	0.87737	0.655000	0.94253	GGA		0.433	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		7	75	0	0	0	0.047766	0	7	75				
PTBP1	5725	broad.mit.edu	37	19	803570	803570	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr19:803570G>A	ENST00000349038.4	+	3	122	c.49G>A	c.(49-51)Gac>Aac	p.D17N	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000356948.6_Missense_Mutation_p.D17N|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000394601.4_Missense_Mutation_p.D17N	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	17					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)	p.D17N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGGGATCTGACGAGCTTTT	0.627																																							uc002lpr.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)|skin(1)	2						c.(49-51)GAC>AAC		polypyrimidine tract-binding protein 1 isoform							127.0	118.0	121.0					19																	803570		2203	4300	6503	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:803570G>A	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.49G>A	19.37:g.803570G>A	ENSP00000014112:p.Asp17Asn					PTBP1_uc002lpp.2_Missense_Mutation_p.D17N|PTBP1_uc002lpq.2_Missense_Mutation_p.D17N|PTBP1_uc002lps.2_Intron|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_5'UTR	p.D17N	NM_031991	NP_114368	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	155	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	17					Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.49G>A	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130960	0.77549	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.56941	0.43;0.45;0.8	4.2	4.2	0.49525	.	0.057120	0.64402	D	0.000002	T	0.72145	0.3424	M	0.77486	2.375	0.80722	D	1	P;D;D	0.76494	0.954;0.999;0.991	P;D;D	0.72075	0.701;0.976;0.91	T	0.77643	-0.2511	10	0.87932	D	0	-31.6781	15.4922	0.75615	0.0:0.0:1.0:0.0	.	17;17;17	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	N	17	ENSP00000349428:D17N;ENSP00000408096:D17N;ENSP00000014112:D17N	ENSP00000014112:D17N	D	+	1	0	PTBP1	754570	1.000000	0.71417	0.999000	0.59377	0.428000	0.31595	9.130000	0.94437	2.067000	0.61834	0.557000	0.71058	GAC		0.627	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			6	70	0	0	0	0.047766	0	6	70				
MUC16	94025	broad.mit.edu	37	19	9066642	9066642	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr19:9066642G>A	ENST00000397910.4	-	3	21007	c.20804C>T	c.(20803-20805)tCc>tTc	p.S6935F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6937	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S6935F(2)|p.S2568F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCTCAGAGGAAACAGACAT	0.458																																							uc002mkp.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(20803-20805)TCC>TTC		mucin 16							257.0	239.0	245.0					19																	9066642		1970	4164	6134	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066642G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20804C>T	19.37:g.9066642G>A	ENSP00000381008:p.Ser6935Phe						p.S6935F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	21008	-			6937			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.20804C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.874	-0.233425	0.05983	.	.	ENSG00000181143	ENST00000397910	T	0.24151	1.87	2.74	-5.47	0.02600	.	.	.	.	.	T	0.10252	0.0251	N	0.08118	0	.	.	.	B	0.27594	0.182	B	0.27076	0.076	T	0.29366	-1.0014	8	0.87932	D	0	.	3.6607	0.08237	0.4951:0.0:0.2208:0.2841	.	6935	B5ME49	.	F	6935	ENSP00000381008:S6935F	ENSP00000381008:S6935F	S	-	2	0	MUC16	8927642	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.229000	0.02945	-1.632000	0.01541	-0.498000	0.04607	TCC		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		70	219	0	0	0	0.048971	0	70	219				
ZNF780A	284323	broad.mit.edu	37	19	40581559	40581559	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr19:40581559G>A	ENST00000595687.2	-	6	999	c.790C>T	c.(790-792)Ctt>Ttt	p.L264F	ZNF780A_ENST00000450241.2_Missense_Mutation_p.L230F|ZNF780A_ENST00000340963.5_Missense_Mutation_p.L264F|ZNF780A_ENST00000594395.1_Missense_Mutation_p.L265F|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.L265F	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L230F(1)|p.L265F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTTGAACAAGGTTTGAGCTA	0.398																																							uc002omy.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(790-792)CTT>TTT		zinc finger protein 780A isoform b							166.0	170.0	169.0					19																	40581559		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581559G>A	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.790C>T	19.37:g.40581559G>A	ENSP00000472189:p.Leu264Phe					ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.L264F|ZNF780A_uc010xvh.1_Missense_Mutation_p.L265F	p.L264F	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			6	1015	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		264			C2H2-type 4.		E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.790C>T	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276032	0.40294	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.52057	0.68;0.68	1.92	0.733	0.18289	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61451	0.2348	M	0.68317	2.08	0.09310	N	1	D;P	0.71674	0.998;0.662	D;B	0.77004	0.989;0.281	T	0.49234	-0.8961	9	0.59425	D	0.04	.	7.7313	0.28789	0.0:0.2646:0.7354:0.0	.	265;264	E9PB48;O75290	.;Z780A_HUMAN	F	264;265;264	ENSP00000400997:L265F;ENSP00000341507:L264F	ENSP00000341507:L264F	L	-	1	0	ZNF780A	45273399	0.185000	0.23213	0.002000	0.10522	0.442000	0.32017	0.787000	0.26858	0.095000	0.17434	0.305000	0.20034	CTT		0.398	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		45	154	0	0	0	0.048971	0	45	154				
NTF4	4909	broad.mit.edu	37	19	49564708	49564708	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr19:49564708C>T	ENST00000593537.1	-	1	546	c.547G>A	c.(547-549)Gat>Aat	p.D183N	CTB-60B18.18_ENST00000599209.1_lincRNA|CGB7_ENST00000597853.1_5'Flank|NTF4_ENST00000301411.3_Missense_Mutation_p.D183N|CGB7_ENST00000356213.4_5'Flank|NTF4_ENST00000451356.2_Intron|CTB-60B18.12_ENST00000597865.1_RNA|NTF4_ENST00000594938.1_5'Flank			P34130	NTF4_HUMAN	neurotrophin 4	183					adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)	p.D183N(1)		kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CCCTGGGCATCAGCGGTCAAT	0.667																																							uc002pmf.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(547-549)GAT>AAT		neurotrophin 5 preproprotein							42.0	36.0	38.0					19																	49564708		2203	4300	6503	SO:0001583	missense	4909				adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity	g.chr19:49564708C>T		CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"""Endogenous ligands"""	8024	protein-coding gene	gene with protein product	"""neurotrophic factor 4"""	162662	"""neurotrophin 5 (neurotrophin 4/5)"""	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.547G>A	19.37:g.49564708C>T	ENSP00000469455:p.Asp183Asn					CGB7_uc010yah.1_Intron	p.D183N	NM_006179	NP_006170	P34130	NTF4_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	688	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	183					Q6FH56	Missense_Mutation	SNP	ENST00000593537.1	37	c.547G>A	CCDS12754.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347138	0.61183	.	.	ENSG00000167744	ENST00000301411	T	0.69685	-0.42	3.27	2.23	0.28157	Nerve growth factor-related (5);	0.000000	0.64402	D	0.000001	T	0.61726	0.2370	L	0.53561	1.675	0.45205	D	0.998218	P	0.43826	0.818	B	0.43052	0.406	T	0.65372	-0.6184	10	0.87932	D	0	-5.7525	10.1227	0.42630	0.0:0.8934:0.0:0.1066	.	183	P34130	NTF4_HUMAN	N	183	ENSP00000301411:D183N	ENSP00000301411:D183N	D	-	1	0	NTF4	54256520	0.997000	0.39634	0.429000	0.26710	0.666000	0.39218	3.723000	0.54955	0.965000	0.38133	0.313000	0.20887	GAT		0.667	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466258.1	NM_006179		6	34	0	0	0	0.021553	0	6	34				
ZNF331	55422	broad.mit.edu	37	19	54074859	54074859	+	Splice_Site	SNP	G	G	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr19:54074859G>A	ENST00000253144.9	+	6	1344	c.11G>A	c.(10-12)gGt>gAt	p.G4D	ZNF331_ENST00000511154.1_Splice_Site_p.G4D|ZNF331_ENST00000449416.1_Splice_Site_p.G4D|ZNF331_ENST00000513999.1_Splice_Site_p.G4D|ZNF331_ENST00000411977.2_Splice_Site_p.G4D|ZNF331_ENST00000511593.2_Splice_Site_p.G4D|ZNF331_ENST00000512387.1_Splice_Site_p.G4D|ZNF331_ENST00000513265.1_Splice_Site_p.G4D	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G4D(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CTGTTTCAGGGTTTGGTGACG	0.542			T	?	follicular thyroid adenoma																																		uc002qbx.1		NA		Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6						c.(10-12)GGT>GAT		zinc finger protein 331							360.0	350.0	353.0					19																	54074859		2203	4300	6503	SO:0001630	splice_region_variant	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54074859G>A	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.10-1G>A	19.37:g.54074859G>A						ZNF331_uc002qby.1_Missense_Mutation_p.G4D|ZNF331_uc002qbz.1_Missense_Mutation_p.G4D|ZNF331_uc002qca.1_Missense_Mutation_p.G4D|ZNF331_uc010eqr.1_Missense_Mutation_p.G4D|ZNF331_uc002qcb.1_Missense_Mutation_p.G4D|ZNF331_uc002qcc.1_Missense_Mutation_p.G4D|ZNF331_uc002qcd.1_Missense_Mutation_p.G4D	p.G4D	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	6	1445	+			4					Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.11G>A	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	G	8.913	0.959088	0.18507	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000502248;ENST00000449416;ENST00000514374;ENST00000411977;ENST00000511154;ENST00000509047;ENST00000509585;ENST00000513999;ENST00000512387;ENST00000511567;ENST00000514022;ENST00000505949;ENST00000513265;ENST00000502616;ENST00000504493;ENST00000505426	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.00840	5.63;5.63;5.63;5.63;5.63;5.63;5.63;5.63;5.63;5.63;5.63;5.63;5.63;5.63;5.63;5.63;5.63;5.63	4.08	-0.794	0.10918	Krueppel-associated box (1);	.	.	.	.	T	0.00906	0.0030	L	0.55481	1.735	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.49560	-0.8927	9	0.18276	T	0.48	.	0.4976	0.00574	0.3363:0.1767:0.3062:0.1808	.	4	Q9NQX6	ZN331_HUMAN	D	4	ENSP00000253144:G4D;ENSP00000427439:G4D;ENSP00000423675:G4D;ENSP00000393817:G4D;ENSP00000424835:G4D;ENSP00000393336:G4D;ENSP00000421014:G4D;ENSP00000423263:G4D;ENSP00000426155:G4D;ENSP00000423156:G4D;ENSP00000421728:G4D;ENSP00000426127:G4D;ENSP00000422471:G4D;ENSP00000427532:G4D;ENSP00000426458:G4D;ENSP00000422586:G4D;ENSP00000425517:G4D;ENSP00000424929:G4D	ENSP00000253144:G4D	G	+	2	0	ZNF331	58766671	0.000000	0.05858	0.461000	0.27105	0.674000	0.39518	-1.016000	0.03633	0.062000	0.16340	0.655000	0.94253	GGT		0.542	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555	Missense_Mutation	41	503	0	0	0	0.048971	0	41	503				
LILRB2	10288	broad.mit.edu	37	19	54780707	54780707	+	Silent	SNP	G	G	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr19:54780707G>A	ENST00000391749.4	-	10	1708	c.1437C>T	c.(1435-1437)ctC>ctT	p.L479L	LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391746.1_Silent_p.L479L|LILRB2_ENST00000434421.1_Silent_p.L363L|LILRB2_ENST00000314446.5_Silent_p.L478L|LILRB2_ENST00000391748.1_Silent_p.L478L	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggagga	0.607																																							uc002qfb.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1435-1437)CTC>CTT		leukocyte immunoglobulin-like receptor,							180.0	141.0	154.0					19																	54780707		2203	4300	6503	SO:0001819	synonymous_variant	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54780707G>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1437C>T	19.37:g.54780707G>A						LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.L479L|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.L478L|LILRB2_uc010yet.1_Silent_p.L363L	p.L479L	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1703	-	Ovarian(34;0.19)		479			Helical; (Potential).		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	c.1437C>T	CCDS12886.1																																																																																				0.607	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			4	111	0	0	0	0.009096	0	4	111				
COL4A4	1286	broad.mit.edu	37	2	227886814	227886814	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr2:227886814C>T	ENST00000396625.3	-	44	4373	c.4166G>A	c.(4165-4167)gGa>gAa	p.G1389E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1386E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1389	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.G1389E(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCTTCTGGTCCTCTCATGCC	0.547																																							uc010zlt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11	GRCh37	CD052450	COL4A4	D		c.(4165-4167)GGA>GAA		alpha 4 type IV collagen precursor							126.0	134.0	131.0					2																	227886814		1887	4105	5992	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227886814C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4166G>A	2.37:g.227886814C>T	ENSP00000379866:p.Gly1389Glu						p.G1389E	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	43	4820	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1389			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.4166G>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370940	0.61624	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93547	-3.24;-3.24	5.63	5.63	0.86233	.	.	.	.	.	D	0.96021	0.8704	M	0.65498	2.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.95671	0.8723	9	0.56958	D	0.05	.	15.5218	0.75871	0.0:1.0:0.0:0.0	.	1389	P53420	CO4A4_HUMAN	E	1389;1386	ENSP00000379866:G1389E;ENSP00000328553:G1386E	ENSP00000328553:G1386E	G	-	2	0	COL4A4	227595058	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	3.910000	0.56371	2.802000	0.96397	0.561000	0.74099	GGA		0.547	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		7	200	0	0	0	0.02938	0	7	200				
SNRPB2	6629	broad.mit.edu	37	20	16717952	16717952	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr20:16717952G>T	ENST00000246071.6	+	4	500	c.284G>T	c.(283-285)cGt>cTt	p.R95L	SNRPB2_ENST00000377943.5_Missense_Mutation_p.R95L	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	95					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)	p.R95L(1)		large_intestine(2)|lung(2)|urinary_tract(1)	5						TCAAAAATGCGTGGAACTTTT	0.348																																							uc002wph.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(283-285)CGT>CTT		small nuclear ribonucleoprotein polypeptide B''							59.0	57.0	58.0					20																	16717952		2203	4300	6503	SO:0001583	missense	6629					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding	g.chr20:16717952G>T		CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"""RNA binding motif (RRM) containing"""	11155	protein-coding gene	gene with protein product		603520	"""small nuclear ribonucleoprotein polypeptide B2"", ""small nuclear ribonucleoprotein polypeptide B''"""			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.284G>T	20.37:g.16717952G>T	ENSP00000246071:p.Arg95Leu					SNRPB2_uc002wpi.1_Missense_Mutation_p.R95L	p.R95L	NM_003092	NP_003083	P08579	RU2B_HUMAN			4	500	+			95					B2R7J3|D3DW21|Q9UJD4	Missense_Mutation	SNP	ENST00000246071.6	37	c.284G>T	CCDS13123.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005666	0.54254	.	.	ENSG00000125870	ENST00000377943;ENST00000246071	T;T	0.05855	3.38;3.38	5.7	4.76	0.60689	.	0.093257	0.64402	D	0.000002	T	0.08313	0.0207	L	0.53249	1.67	0.54753	D	0.999982	B	0.23591	0.088	B	0.23018	0.043	T	0.08472	-1.0720	10	0.48119	T	0.1	-9.0556	10.7371	0.46130	0.1447:0.0:0.8553:0.0	.	95	P08579	RU2B_HUMAN	L	95	ENSP00000367178:R95L;ENSP00000246071:R95L	ENSP00000246071:R95L	R	+	2	0	SNRPB2	16665952	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.701000	0.68325	1.427000	0.47276	0.655000	0.94253	CGT		0.348	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078110.1	NM_003092		3	28	1	0	0.004672	0.004672	0.00481575	3	28				
NFS1	9054	broad.mit.edu	37	20	34260738	34260738	+	Missense_Mutation	SNP	C	C	G			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr20:34260738C>G	ENST00000374092.4	-	12	1319	c.1249G>C	c.(1249-1251)Gag>Cag	p.E417Q	NFS1_ENST00000498084.1_5'UTR|NFS1_ENST00000397425.1_Missense_Mutation_p.E357Q|NFS1_ENST00000540053.1_Missense_Mutation_p.E215Q|NFS1_ENST00000541387.1_Missense_Mutation_p.E366Q|NFS1_ENST00000374085.1_Missense_Mutation_p.E357Q|RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.R76S	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	417					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.E417Q(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	TCCACTTCCTCCTCTGTAGTG	0.453																																							uc002xdw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1249-1251)GAG>CAG		NFS1 nitrogen fixation 1 precursor	L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						102.0	84.0	90.0					20																	34260738		2203	4300	6503	SO:0001583	missense	9054				cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr20:34260738C>G	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.1249G>C	20.37:g.34260738C>G	ENSP00000363205:p.Glu417Gln					CPNE1_uc002xdn.1_RNA|CPNE1_uc002xdo.1_RNA|CPNE1_uc002xdp.1_RNA|NFS1_uc002xdt.1_Missense_Mutation_p.E357Q|NFS1_uc002xdu.1_Missense_Mutation_p.E357Q|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_Missense_Mutation_p.E215Q|NFS1_uc010zvl.1_Missense_Mutation_p.E366Q	p.E417Q	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)		12	1313	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		417					B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Missense_Mutation	SNP	ENST00000374092.4	37	c.1249G>C	CCDS13262.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817474	0.70912	.	.	ENSG00000244005	ENST00000374092;ENST00000374085;ENST00000397425;ENST00000540053;ENST00000541387	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	5.37	5.37	0.77165	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.195954	0.52532	D	0.000075	D	0.90031	0.6887	L	0.61218	1.895	0.80722	D	1	B;B	0.25955	0.138;0.021	B;B	0.36666	0.23;0.087	D	0.86786	0.1982	10	0.40728	T	0.16	-3.8616	19.3071	0.94167	0.0:1.0:0.0:0.0	.	366;417	F5GYK5;Q9Y697	.;NFS1_HUMAN	Q	417;357;357;215;366	ENSP00000363205:E417Q;ENSP00000363198:E357Q;ENSP00000380570:E357Q;ENSP00000438594:E215Q;ENSP00000440897:E366Q	ENSP00000363198:E357Q	E	-	1	0	NFS1	33724152	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.538000	0.67193	2.793000	0.96121	0.563000	0.77884	GAG		0.453	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100		3	55	0	0	0	0.004672	0	3	55				
CRYBB1	1414	broad.mit.edu	37	22	27012195	27012195	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr22:27012195C>T	ENST00000215939.2	-	2	219	c.89G>A	c.(88-90)gGa>gAa	p.G30E		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	30	N-terminal arm.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.G30E(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						AGGGGATGTTCCTGCAGGTGG	0.657																																							uc003acy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(88-90)GGA>GAA		crystallin, beta B1							97.0	91.0	93.0					22																	27012195		2203	4300	6503	SO:0001583	missense	1414				visual perception		structural constituent of eye lens	g.chr22:27012195C>T		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.89G>A	22.37:g.27012195C>T	ENSP00000215939:p.Gly30Glu						p.G30E	NM_001887	NP_001878	P53674	CRBB1_HUMAN			2	159	-			30			N-terminal arm.			Missense_Mutation	SNP	ENST00000215939.2	37	c.89G>A	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057722	0.55325	.	.	ENSG00000100122	ENST00000215939	T	0.75821	-0.97	4.13	3.02	0.34903	.	41.335500	0.01052	N	0.004500	T	0.69522	0.3120	L	0.29908	0.895	0.30076	N	0.809588	P	0.52316	0.952	P	0.45998	0.5	T	0.63175	-0.6696	10	0.23302	T	0.38	.	10.6676	0.45739	0.191:0.809:0.0:0.0	.	30	P53674	CRBB1_HUMAN	E	30	ENSP00000215939:G30E	ENSP00000215939:G30E	G	-	2	0	CRYBB1	25342195	0.457000	0.25752	0.554000	0.28268	0.060000	0.15804	0.605000	0.24179	2.282000	0.76494	0.491000	0.48974	GGA		0.657	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		5	86	0	0	0	0.02938	0	5	86				
SETD2	29072	broad.mit.edu	37	3	47103747	47103747	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr3:47103747T>A	ENST00000409792.3	-	14	6241	c.6199A>T	c.(6199-6201)Aag>Tag	p.K2067*	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2067					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.K1564*(1)|p.K2067*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGAGTTTGCTTGTCTGGGTCT	0.478			"""N, F, S, Mis"""		clear cell renal carcinoma																																		uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		2	Substitution - Nonsense(2)		lung(2)	kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(6199-6201)AAG>TAG		SET domain containing 2							310.0	306.0	307.0					3																	47103747		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47103747T>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6199A>T	3.37:g.47103747T>A	ENSP00000386759:p.Lys2067*					SETD2_uc003cqv.2_Nonsense_Mutation_p.K2134*|SETD2_uc003cqt.1_RNA	p.K2067*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	14	6252	-		Acute lymphoblastic leukemia(5;0.0169)	2067					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.6199A>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	44	10.789487	0.99468	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	4.58	4.58	0.56647	.	0.258530	0.26987	N	0.021493	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9149	0.24354	0.134:0.0:0.2652:0.6008	.	.	.	.	X	2067	.	ENSP00000386759:K2067X	K	-	1	0	SETD2	47078751	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	1.094000	0.30951	2.048000	0.60808	0.374000	0.22700	AAG		0.478	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		123	304	0	0	0	0.048971	0	123	304				
QRICH1	54870	broad.mit.edu	37	3	49095083	49095083	+	Nonsense_Mutation	SNP	C	C	A	rs531085975		TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr3:49095083C>A	ENST00000395443.2	-	3	1022	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	QRICH1_ENST00000357496.2_Nonsense_Mutation_p.E184*|QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000424300.1_Nonsense_Mutation_p.E184*	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	184	Gln-rich.					nucleus (GO:0005634)		p.E184*(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCCGGGATTTCTGCAGCCTGG	0.602																																							uc010hkq.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(550-552)GAA>TAA		glutamine-rich 1							92.0	92.0	92.0					3																	49095083		2203	4300	6503	SO:0001587	stop_gained	54870							g.chr3:49095083C>A		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.550G>T	3.37:g.49095083C>A	ENSP00000378830:p.Glu184*					QRICH1_uc003cvu.2_Nonsense_Mutation_p.E184*|QRICH1_uc003cvv.2_Nonsense_Mutation_p.E184*	p.E184*	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	4	846	-			184			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Nonsense_Mutation	SNP	ENST00000395443.2	37	c.550G>T	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	C	40	8.381651	0.98786	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.89	5.89	0.94794	.	0.139527	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-4.615	20.2527	0.98410	0.0:1.0:0.0:0.0	.	.	.	.	X	184	.	ENSP00000350094:E184X	E	-	1	0	QRICH1	49070087	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.759000	0.55227	2.788000	0.95919	0.557000	0.71058	GAA		0.602	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		5	66	1	0	0.00116845	0.021553	0.00126267	5	66				
KIAA1211	57482	broad.mit.edu	37	4	57189582	57189582	+	Missense_Mutation	SNP	C	C	G			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr4:57189582C>G	ENST00000504228.1	+	7	3332	c.3227C>G	c.(3226-3228)tCc>tGc	p.S1076C	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S1069C|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S1076C			Q6ZU35	K1211_HUMAN	KIAA1211	1076								p.S1076C(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TTAGATGGCTCCAAACTTACA	0.507																																							uc003hbk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3226-3228)TCC>TGC		hypothetical protein LOC57482							75.0	78.0	77.0					4																	57189582		1930	4139	6069	SO:0001583	missense	57482							g.chr4:57189582C>G	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3227C>G	4.37:g.57189582C>G	ENSP00000423366:p.Ser1076Cys					KIAA1211_uc010iha.2_Missense_Mutation_p.S1069C	p.S1076C	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			9	3618	+	Glioma(25;0.08)|all_neural(26;0.101)		1076					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.3227C>G	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276933	0.59758	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.17370	2.32;2.32;2.28	5.51	5.51	0.81932	.	.	.	.	.	T	0.41971	0.1182	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.65874	0.939;0.939	T	0.24657	-1.0154	9	0.87932	D	0	-10.4093	19.4281	0.94754	0.0:1.0:0.0:0.0	.	1069;1076	F5H1N7;Q6ZU35	.;K1211_HUMAN	C	1076;1076;1069	ENSP00000264229:S1076C;ENSP00000423366:S1076C;ENSP00000444006:S1069C	ENSP00000264229:S1076C	S	+	2	0	KIAA1211	56884339	1.000000	0.71417	0.991000	0.47740	0.075000	0.17131	7.191000	0.77763	2.583000	0.87209	0.563000	0.77884	TCC		0.507	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		4	40	0	0	0	0.014758	0	4	40				
SKIV2L2	23517	broad.mit.edu	37	5	54711811	54711811	+	Missense_Mutation	SNP	G	G	C			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr5:54711811G>C	ENST00000230640.5	+	25	3076	c.2822G>C	c.(2821-2823)aGa>aCa	p.R941T	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.R840T	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	941					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.R941T(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGTGCTAAAAGAATTGCAAAA	0.343																																					Melanoma(2;92 134 23744 29976 33782)	Melanoma(2;92 134 23744 29976 33782)	uc003jpy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2821-2823)AGA>ACA		superkiller viralicidic activity 2-like 2							58.0	61.0	60.0					5																	54711811		2203	4300	6503	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54711811G>C	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2822G>C	5.37:g.54711811G>C	ENSP00000230640:p.Arg941Thr					SKIV2L2_uc011cqi.1_Missense_Mutation_p.R840T	p.R941T	NM_015360	NP_056175	P42285	SK2L2_HUMAN			25	3088	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	941					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.2822G>C	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392767	0.62066	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.23754	1.89;1.89	5.77	5.77	0.91146	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.55178	0.1904	M	0.84511	2.7	0.80722	D	1	D;P	0.59357	0.985;0.792	P;B	0.61397	0.888;0.411	T	0.53229	-0.8468	10	0.40728	T	0.16	-18.0043	20.3626	0.98863	0.0:0.0:1.0:0.0	.	840;941	F5H7E2;P42285	.;SK2L2_HUMAN	T	941;840	ENSP00000230640:R941T;ENSP00000442583:R840T	ENSP00000230640:R941T	R	+	2	0	SKIV2L2	54747568	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.378000	0.97191	2.885000	0.99019	0.655000	0.94253	AGA		0.343	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			3	51	0	0	0	0.004672	0	3	51				
HMGCR	3156	broad.mit.edu	37	5	74646703	74646703	+	Silent	SNP	A	A	G			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr5:74646703A>G	ENST00000287936.4	+	9	1026	c.870A>G	c.(868-870)tcA>tcG	p.S290S	HMGCR_ENST00000343975.5_Silent_p.S290S|HMGCR_ENST00000511206.1_Silent_p.S290S	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	290					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)	p.S290S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTAAGGTTTCATTAGGACTGG	0.383																																							uc003kdp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(868-870)TCA>TCG		3-hydroxy-3-methylglutaryl-Coenzyme A reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						112.0	112.0	112.0					5																	74646703		2203	4300	6503	SO:0001819	synonymous_variant	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74646703A>G		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.870A>G	5.37:g.74646703A>G						HMGCR_uc011cst.1_Silent_p.S310S|HMGCR_uc003kdq.2_Silent_p.S290S|HMGCR_uc010izn.1_Silent_p.S91S	p.S290S	NM_000859	NP_000850	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	9	1026	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	290					B7Z3Y9|Q8N190	Silent	SNP	ENST00000287936.4	37	c.870A>G	CCDS4027.1																																																																																				0.383	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			7	103	0	0	0	0.038147	0	7	103				
SHPRH	257218	broad.mit.edu	37	6	146266576	146266576	+	Missense_Mutation	SNP	T	T	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr6:146266576T>A	ENST00000367505.2	-	8	1783	c.1519A>T	c.(1519-1521)Act>Tct	p.T507S	SHPRH_ENST00000275233.7_Missense_Mutation_p.T507S|SHPRH_ENST00000438092.2_Missense_Mutation_p.T507S|SHPRH_ENST00000367503.3_Missense_Mutation_p.T507S			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	507	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T507S(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AATGTAAAAGTCCCAGAAAAA	0.358																																							uc003qlf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(1519-1521)ACT>TCT		SNF2 histone linker PHD RING helicase isoform a							136.0	122.0	127.0					6																	146266576		1818	4073	5891	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146266576T>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1519A>T	6.37:g.146266576T>A	ENSP00000356475:p.Thr507Ser					SHPRH_uc003qld.2_Missense_Mutation_p.T507S|SHPRH_uc003qle.2_Missense_Mutation_p.T507S|SHPRH_uc003qlg.1_Missense_Mutation_p.T63S|SHPRH_uc003qlj.1_Missense_Mutation_p.T396S	p.T507S	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	8	1918	-		Ovarian(120;0.0365)	507			H15.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.1519A>T	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	9.551	1.115827	0.20795	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.52	4.32	0.51571	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);DEAD-like helicase (1);	0.076431	0.53938	D	0.000052	T	0.00845	0.0028	N	0.00052	-2.395	0.36600	D	0.874602	B;B;B;B	0.25272	0.037;0.01;0.008;0.122	B;B;B;B	0.23716	0.01;0.012;0.007;0.048	T	0.37454	-0.9705	10	0.11182	T	0.66	-19.956	8.3073	0.32049	0.4067:0.0:0.0:0.5933	.	396;507;507;396	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	S	507;507;507;507;396	ENSP00000356475:T507S;ENSP00000356473:T507S;ENSP00000412797:T507S;ENSP00000275233:T507S	ENSP00000275233:T507S	T	-	1	0	SHPRH	146308269	1.000000	0.71417	0.993000	0.49108	0.838000	0.47535	6.055000	0.71103	2.108000	0.64289	0.477000	0.44152	ACT		0.358	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		6	74	0	0	0	0.021553	0	6	74				
MYCT1	80177	broad.mit.edu	37	6	153043209	153043209	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr6:153043209C>T	ENST00000367245.5	+	2	537	c.529C>T	c.(529-531)Cct>Tct	p.P177S	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	177						nucleus (GO:0005634)		p.P177S(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TCCACCACTTCCTGTGGAAAC	0.493																																							uc003qpd.3		NA																	2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(1)	1						c.(529-531)CCT>TCT		myc target 1							91.0	87.0	88.0					6																	153043209		2203	4300	6503	SO:0001583	missense	80177					nucleus		g.chr6:153043209C>T	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.529C>T	6.37:g.153043209C>T	ENSP00000356214:p.Pro177Ser					MYCT1_uc010kjc.1_Missense_Mutation_p.P129S|MYCT1_uc003qpc.3_Missense_Mutation_p.P177S	p.P177S	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	537	+		Ovarian(120;0.0654)	177					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.529C>T	CCDS5239.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811199	0.70797	.	.	ENSG00000120279	ENST00000367245	T	0.29397	1.57	5.8	5.8	0.92144	.	0.221610	0.47852	D	0.000211	T	0.27134	0.0665	L	0.53249	1.67	0.80722	D	1	P;P	0.52316	0.952;0.775	P;B	0.48368	0.575;0.306	T	0.00975	-1.1494	10	0.36615	T	0.2	-24.9109	15.5232	0.75881	0.0:0.8624:0.1376:0.0	.	129;177	D6Q1S4;Q8N699	.;MYCT1_HUMAN	S	177	ENSP00000356214:P177S	ENSP00000356214:P177S	P	+	1	0	MYCT1	153084902	0.998000	0.40836	0.993000	0.49108	0.963000	0.63663	2.976000	0.49289	2.736000	0.93811	0.591000	0.81541	CCT		0.493	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		10	58	0	0	0	0.080935	0	10	58				
KIAA1324L	222223	broad.mit.edu	37	7	86526912	86526912	+	Missense_Mutation	SNP	G	G	T	rs147564059		TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr7:86526912G>T	ENST00000450689.2	-	19	2780	c.2595C>A	c.(2593-2595)ttC>ttA	p.F865L	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.F698L|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.F625L|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.F794L	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	865						integral component of membrane (GO:0016021)		p.F625L(1)|p.F625F(1)|p.F865L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ACAGGAAATAGAACGTACACC	0.458																																							uc011kha.1		NA																	3	Substitution - Missense(2)|Substitution - coding silent(1)	p.F625F(1)	lung(2)|skin(1)	ovary(6)|skin(1)	7						c.(2593-2595)TTC>TTA		hypothetical protein LOC222223 isoform 1							100.0	86.0	91.0					7																	86526912		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86526912G>T	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2595C>A	7.37:g.86526912G>T	ENSP00000413445:p.Phe865Leu					KIAA1324L_uc003uif.1_Missense_Mutation_p.F625L|KIAA1324L_uc011kgz.1_Missense_Mutation_p.F751L|KIAA1324L_uc003uie.2_Missense_Mutation_p.F698L	p.F865L	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			19	2780	-	Esophageal squamous(14;0.0058)		865			Extracellular (Potential).		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2595C>A	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.201359|4.201359	0.79015|0.79015	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.03889|.	3.77;3.77;3.77;3.77|.	5.59|5.59	2.81|2.81	0.32909|0.32909	Mannose-6-phosphate receptor, binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71871|0.71871	0.3391|0.3391	M|M	0.83483|0.83483	2.645|2.645	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.89917|.	1.0;0.998;0.998|.	D;D;D|.	0.91635|.	0.999;0.994;0.994|.	T|T	0.70487|0.70487	-0.4858|-0.4858	10|5	0.56958|.	D|.	0.05|.	.|.	7.8347|7.8347	0.29363|0.29363	0.3145:0.0:0.6855:0.0|0.3145:0.0:0.6855:0.0	.|.	865;625;698|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	L|I	865;625;794;698|826	ENSP00000413445:F865L;ENSP00000297222:F625L;ENSP00000397377:F794L;ENSP00000402390:F698L|.	ENSP00000297222:F625L|.	F|L	-|-	3|1	2|2	KIAA1324L|KIAA1324L	86364848|86364848	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.989000|0.989000	0.77384|0.77384	1.661000|1.661000	0.37408|0.37408	0.727000|0.727000	0.32360|0.32360	0.650000|0.650000	0.86243|0.86243	TTC|CTA		0.458	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		5	53	1	0	0.00198382	0.02938	0.00207681	5	53				
CROT	54677	broad.mit.edu	37	7	86998766	86998766	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr7:86998766G>A	ENST00000331536.3	+	7	807	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	CROT_ENST00000442291.1_Missense_Mutation_p.E208K|CROT_ENST00000419147.2_Missense_Mutation_p.E236K	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	208					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.E208K(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TGTAATACATGAAGGATGTTT	0.423																																							uc003uit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(622-624)GAA>AAA		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						208.0	194.0	199.0					7																	86998766		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:86998766G>A		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.622G>A	7.37:g.86998766G>A	ENSP00000331981:p.Glu208Lys					CROT_uc003uiu.2_Missense_Mutation_p.E236K	p.E208K	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			7	867	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		208					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.622G>A	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255599	0.80135	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89415	-2.51;-2.51;-2.51	5.1	5.1	0.69264	.	0.246159	0.46758	D	0.000273	D	0.83926	0.5360	L	0.28054	0.825	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.17098	0.017;0.002	T	0.77680	-0.2497	10	0.35671	T	0.21	-17.2387	19.0745	0.93154	0.0:0.0:1.0:0.0	.	236;208	E7EQF2;Q9UKG9	.;OCTC_HUMAN	K	236;208;208	ENSP00000413575:E236K;ENSP00000331981:E208K;ENSP00000411983:E208K	ENSP00000331981:E208K	E	+	1	0	CROT	86836702	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	5.613000	0.67688	2.803000	0.96430	0.585000	0.79938	GAA		0.423	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		11	150	0	0	0	0.105934	0	11	150				
LRP12	29967	broad.mit.edu	37	8	105509340	105509340	+	Silent	SNP	G	G	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr8:105509340G>A	ENST00000276654.5	-	5	1548	c.1440C>T	c.(1438-1440)agC>agT	p.S480S	LRP12_ENST00000424843.2_Silent_p.S461S|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	480	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.S480S(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTTCTTCATCGCTGCCATCAC	0.448																																							uc003yma.2		NA																	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)		0						c.(1438-1440)AGC>AGT		low density lipoprotein-related protein 12							144.0	121.0	129.0					8																	105509340		2203	4300	6503	SO:0001819	synonymous_variant	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105509340G>A	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1440C>T	8.37:g.105509340G>A						LRP12_uc003ymb.2_Silent_p.S461S|LRP12_uc003ylz.2_5'Flank	p.S480S	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	1535	-			480			Extracellular (Potential).|LDL-receptor class A 5.		A8K137|B4DRQ2	Silent	SNP	ENST00000276654.5	37	c.1440C>T	CCDS6303.1																																																																																				0.448	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		5	89	0	0	0	0.021553	0	5	89				
EFR3A	23167	broad.mit.edu	37	8	132996391	132996391	+	Silent	SNP	G	G	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr8:132996391G>A	ENST00000254624.5	+	15	1806	c.1581G>A	c.(1579-1581)ggG>ggA	p.G527G	EFR3A_ENST00000334503.4_Silent_p.G527G|EFR3A_ENST00000519656.1_Silent_p.G491G	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	527						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.G527G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CTCAGAATGGGCAACAGCTGT	0.348																																							uc003yte.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)	5						c.(1579-1581)GGG>GGA		EFR3 homolog A							59.0	58.0	58.0					8																	132996391		2203	4300	6503	SO:0001819	synonymous_variant	23167					plasma membrane	binding	g.chr8:132996391G>A	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1581G>A	8.37:g.132996391G>A							p.G527G	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		15	1782	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		527					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	ENST00000254624.5	37	c.1581G>A	CCDS34942.2																																																																																				0.348	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		3	60	0	0	0	0.004672	0	3	60				
KANK1	23189	broad.mit.edu	37	9	732583	732583	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr9:732583G>A	ENST00000382303.1	+	10	3863	c.3211G>A	c.(3211-3213)Gaa>Aaa	p.E1071K	KANK1_ENST00000382297.2_Missense_Mutation_p.E1071K|KANK1_ENST00000382293.3_Missense_Mutation_p.E913K|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1071					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.E913K(1)|p.E1071K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCAGGTTCAAGAATGTGAACC	0.488																																							uc003zgl.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(3211-3213)GAA>AAA		KN motif and ankyrin repeat domains 1 isoform a							175.0	155.0	162.0					9																	732583		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732583G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3211G>A	9.37:g.732583G>A	ENSP00000371740:p.Glu1071Lys					KANK1_uc003zgm.2_3'UTR|KANK1_uc003zgn.1_Missense_Mutation_p.E1071K|KANK1_uc003zgs.1_Missense_Mutation_p.E913K|KANK1_uc010mgx.1_Missense_Mutation_p.E26K|KANK1_uc010mgy.1_5'UTR|KANK1_uc003zgt.1_5'Flank	p.E1071K	NM_015158	NP_055973	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3860	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1071					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.3211G>A	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854109	0.71719	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293;ENST00000382289	T;T;T	0.17528	2.27;2.27;2.27	5.86	5.86	0.93980	.	0.210740	0.33553	N	0.004793	T	0.23806	0.0576	L	0.59436	1.845	0.80722	D	1	B;B	0.23316	0.004;0.083	B;B	0.20767	0.009;0.031	T	0.01725	-1.1287	10	0.56958	D	0.05	0.9381	20.1802	0.98196	0.0:0.0:1.0:0.0	.	94;1071	F5H7I5;Q14678	.;KANK1_HUMAN	K	1071;94;1071;913;26	ENSP00000371740:E1071K;ENSP00000371734:E1071K;ENSP00000371730:E913K	ENSP00000371726:E26K	E	+	1	0	KANK1	722583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.099000	0.76981	2.777000	0.95525	0.655000	0.94253	GAA		0.488	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		4	64	0	0	0	0.009096	0	4	64				
DAPK1	1612	broad.mit.edu	37	9	90220046	90220046	+	Silent	SNP	C	C	T	rs36207429		TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr9:90220046C>T	ENST00000408954.3	+	3	575	c.240C>T	c.(238-240)caC>caT	p.H80H	DAPK1_ENST00000472284.1_Silent_p.H80H|DAPK1_ENST00000491893.1_Silent_p.H80H|DAPK1_ENST00000469640.2_Silent_p.H80H|DAPK1_ENST00000358077.5_Silent_p.H80H	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H80H(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCACCCTGCACGAGGTCTATG	0.622									Chronic Lymphocytic Leukemia, Familial Clustering of				C|||	1	0.000199681	0.0008	0.0	5008	,	,		19807	0.0		0.0	False		,,,				2504	0.0						uc004apc.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(238-240)CAC>CAT		death-associated protein kinase 1							81.0	82.0	82.0					9																	90220046		2200	4299	6499	SO:0001819	synonymous_variant	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90220046C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.240C>T	9.37:g.90220046C>T						DAPK1_uc004ape.2_Silent_p.H80H|DAPK1_uc004apd.2_Silent_p.H80H|DAPK1_uc011ltg.1_Silent_p.H80H|DAPK1_uc011lth.1_Translation_Start_Site	p.H80H	NM_004938	NP_004929	P53355	DAPK1_HUMAN			3	378	+			80			Protein kinase.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	c.240C>T	CCDS43842.1																																																																																				0.622	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		12	32	0	0	0	0.09319	0	12	32				
ZDHHC15	158866	broad.mit.edu	37	X	74644506	74644506	+	Missense_Mutation	SNP	G	G	C			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chrX:74644506G>C	ENST00000373367.3	-	8	947	c.717C>G	c.(715-717)agC>agG	p.S239R	ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000541184.1_Missense_Mutation_p.S230R	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	239					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S239R(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TTTTGTTTCTGCTGACAAGCC	0.378																																							uc004ecg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(715-717)AGC>AGG		zinc finger, DHHC-type containing 15 isoform 1							83.0	67.0	72.0					X																	74644506		2203	4300	6503	SO:0001583	missense	158866					integral to membrane	zinc ion binding	g.chrX:74644506G>C	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.717C>G	X.37:g.74644506G>C	ENSP00000362465:p.Ser239Arg					ZDHHC15_uc004ech.2_Missense_Mutation_p.S230R|ZDHHC15_uc011mqo.1_RNA	p.S239R	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN			8	1195	-			239					B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	c.717C>G	CCDS14430.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796339	0.50208	.	.	ENSG00000102383	ENST00000373367;ENST00000541184	T;T	0.25085	1.82;1.82	5.88	5.88	0.94601	.	0.079517	0.85682	D	0.000000	T	0.41119	0.1145	L	0.60957	1.885	0.80722	D	1	B;D	0.58620	0.11;0.983	B;P	0.59825	0.145;0.864	T	0.07947	-1.0746	10	0.25106	T	0.35	-11.2065	13.3302	0.60483	0.0792:0.0:0.9207:0.0	.	230;239	B3KVG7;Q96MV8	.;ZDH15_HUMAN	R	239;230	ENSP00000362465:S239R;ENSP00000445420:S230R	ENSP00000362465:S239R	S	-	3	2	ZDHHC15	74561231	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.120000	0.41968	2.471000	0.83476	0.600000	0.82982	AGC		0.378	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		6	43	0	0	0	0.047766	0	6	43				
ALG13	79868	broad.mit.edu	37	X	110961491	110961491	+	Silent	SNP	A	A	G			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chrX:110961491A>G	ENST00000394780.3	+	10	1251	c.1239A>G	c.(1237-1239)tcA>tcG	p.S413S	ALG13_ENST00000251943.4_Silent_p.S309S	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	413					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.S413S(1)|p.S309S(1)		endometrium(2)|lung(10)|skin(1)	13						ACAAGAGTTCAAATCAGAATA	0.373																																							uc011msy.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(1)	1						c.(1237-1239)TCA>TCG		SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);							57.0	46.0	49.0					X																	110961491		1568	3576	5144	SO:0001819	synonymous_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110961491A>G	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.1239A>G	X.37:g.110961491A>G						ALG13_uc011msx.1_Silent_p.S309S|ALG13_uc011msz.1_Silent_p.S335S|ALG13_uc011mta.1_Silent_p.S309S|ALG13_uc011mtb.1_Silent_p.S309S	p.S413S			Q9NP73	ALG13_HUMAN			10	1273	+			413					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	c.1239A>G	CCDS55477.1																																																																																				0.373	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		2	13	0	0	0	0.009096	0	2	13				
ATF6	22926	broad.mit.edu	37	1	161816357	161816357	+	Frame_Shift_Del	DEL	A	A	-	rs368810553		TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr1:161816357delA	ENST00000367942.3	+	10	1373	c.1306delA	c.(1306-1308)aaafs	p.K436fs	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	436					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TATTATCCAGAAAAACAGCTA	0.403																																							uc001gbr.2		NA																	0				ovary(2)|skin(1)	3						c.(1306-1308)AAAfs		activating transcription factor 6							117.0	110.0	112.0					1																	161816357		2203	4300	6503	SO:0001589	frameshift_variant	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161816357delA	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1306delA	1.37:g.161816357delA	ENSP00000356919:p.Lys436fs					ATF6_uc001gbq.1_Frame_Shift_Del_p.K436fs	p.K436fs	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		10	1373	+	all_hematologic(112;0.156)		436			Lumenal (Potential).		O15139|Q5VW62|Q6IPB5|Q9UEC9	Frame_Shift_Del	DEL	ENST00000367942.3	37	c.1306delA	CCDS1235.1																																																																																				0.403	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		42	117	NA	NA	NA	NA	NA	42	117	---	---	---	---
DESI2	51029	broad.mit.edu	37	1	244868886	244868886	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr1:244868886delG	ENST00000302550.11	+	5	759	c.380delG	c.(379-381)tggfs	p.W127fs	DESI2_ENST00000263831.7_Frame_Shift_Del_p.W94fs	NM_016076.3	NP_057160.2	Q9BSY9	DESI2_HUMAN	desumoylating isopeptidase 2	127	PPPDE peptidase.					cytoplasm (GO:0005737)	peptidase activity (GO:0008233)										ATTCCTCGCTGGATCAATCGA	0.507																																							uc001iao.2		NA																	0				breast(3)	3						c.(379-381)TGGfs		PPPDE peptidase domain containing 1							116.0	123.0	120.0					1																	244868886		2203	4300	6503	SO:0001589	frameshift_variant	51029							g.chr1:244868886delG	AK025651	CCDS1626.1, CCDS73055.1	1q44	2012-05-16	2012-05-16	2012-05-16	ENSG00000121644	ENSG00000121644			24264	protein-coding gene	gene with protein product		614638	"""chromosome 1 open reading frame 121"", ""family with sequence similarity 152, member A"", ""PPPDE peptidase domain containing 1"""	C1orf121, FAM152A, PPPDE1		10810093, 22370726	Standard	XM_005273154		Approved	CGI-146, FLJ21998	uc001iao.3	Q9BSY9	OTTHUMG00000040398	ENST00000302550.11:c.380delG	1.37:g.244868886delG	ENSP00000306528:p.Trp127fs					PPPDE1_uc001iap.2_Frame_Shift_Del_p.W94fs|PPPDE1_uc001iaq.1_RNA	p.W127fs	NM_016076	NP_057160	Q9BSY9	PPDE1_HUMAN			5	644	+			127			PPPDE peptidase.		B1APK6|Q5VVC6|Q9NYS2|Q9Y3E4	Frame_Shift_Del	DEL	ENST00000302550.11	37	c.380delG	CCDS1626.1																																																																																				0.507	DESI2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097168.1	NM_016076		8	131	NA	NA	NA	NA	NA	8	131	---	---	---	---
CC2D2B	387707	broad.mit.edu	37	10	97776014	97776017	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	TTTC	TTTC	-	-	TTTC	TTTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr10:97776014_97776017delTTTC	ENST00000344386.3	+	6	629_632	c.465_468delTTTC	c.(463-468)aatttcfs	p.NF155fs	CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000458228.1_RNA|CC2D2B_ENST00000410012.2_Frame_Shift_Del_p.NF155fs|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	155										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TTCTCTGTAATTTCTTTCTGTATT	0.382																																							uc001kll.2		NA																	0				ovary(1)	1						c.(463-468)AATTTCfs		coiled-coil and C2 domain containing 2B isoform																																				SO:0001589	frameshift_variant	387707							g.chr10:97776014_97776017delTTTC	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.465_468delTTTC	10.37:g.97776018_97776021delTTTC	ENSP00000343747:p.Asn155fs					uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_Intron|CC2D2B_uc010qop.1_Frame_Shift_Del_p.N155fs	p.N155fs	NM_001001732	NP_001001732	Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	6	664_667	+		Colorectal(252;0.158)	155_156					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Frame_Shift_Del	DEL	ENST00000344386.3	37	c.465_468delTTTC	CCDS41555.1																																																																																				0.382	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		7	69	NA	NA	NA	NA	NA	7	69	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109698333	109698333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr12:109698333delT	ENST00000338432.7	+	48	6664	c.6545delT	c.(6544-6546)cttfs	p.L2182fs	ACACB_ENST00000377854.5_Frame_Shift_Del_p.L2112fs|ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377848.3_Frame_Shift_Del_p.L2182fs			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2182	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GTGGACGGCCTTAGACAATAC	0.552																																							uc001tob.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(6544-6546)CTTfs		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						174.0	160.0	165.0					12																	109698333		2203	4300	6503	SO:0001589	frameshift_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109698333delT	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6545delT	12.37:g.109698333delT	ENSP00000341044:p.Leu2182fs					ACACB_uc001toc.2_Frame_Shift_Del_p.L2182fs|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Frame_Shift_Del_p.L848fs	p.L2182fs	NM_001093	NP_001084	O00763	ACACB_HUMAN			48	6664	+			2182			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Frame_Shift_Del	DEL	ENST00000338432.7	37	c.6545delT	CCDS31898.1																																																																																				0.552	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		49	119	NA	NA	NA	NA	NA	49	119	---	---	---	---
APEX1	328	broad.mit.edu	37	14	20925518	20925520	+	In_Frame_Del	DEL	ATG	ATG	-	rs372749250		TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	ATG	ATG	-	-	ATG	ATG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr14:20925518_20925520delATG	ENST00000216714.3	+	5	1076_1078	c.808_810delATG	c.(808-810)atgdel	p.M271del	OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_3'UTR|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000398030.4_In_Frame_Del_p.M271del|APEX1_ENST00000555414.1_In_Frame_Del_p.M271del	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	271					aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	TTGGACTTATATGATGAATGCTC	0.502								Other BER factors																															uc001vxg.2		NA																	0				ovary(2)|breast(2)	4						c.(808-810)ATGdel	Direct_reversal_of_damage|Other_BER_factors	APEX nuclease 1	Lucanthone(DB04967)																																			SO:0001651	inframe_deletion	328				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	g.chr14:20925518_20925520delATG	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.808_810delATG	14.37:g.20925521_20925523delATG	ENSP00000216714:p.Met271del					OSGEP_uc001vxf.2_5'Flank|APEX1_uc001vxh.2_In_Frame_Del_p.M271del|APEX1_uc001vxi.2_In_Frame_Del_p.M271del|APEX1_uc001vxj.2_In_Frame_Del_p.M271del	p.M271del	NM_001641	NP_001632	P27695	APEX1_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	5	1140_1142	+	all_cancers(95;0.00123)	all_lung(585;0.235)	271					Q969L5|Q99775	In_Frame_Del	DEL	ENST00000216714.3	37	c.808_810delATG	CCDS9550.1																																																																																				0.502	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		51	164	NA	NA	NA	NA	NA	51	164	---	---	---	---
ZNF675	171392	broad.mit.edu	37	19	23845871	23845872	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-6216-01A-11D-1753-08	TCGA-67-6216-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6dc6da8c-2ecf-412f-b2c4-74529adb7c0f	c76da76a-6d03-4c51-94ed-b333c1be8ca1	g.chr19:23845871_23845872insT	ENST00000359788.4	-	2	260_261	c.92_93insA	c.(91-93)aatfs	p.N31fs	ZNF675_ENST00000601010.1_Frame_Shift_Ins_p.N31fs|ZNF675_ENST00000600313.1_Frame_Shift_Ins_p.N31fs|ZNF675_ENST00000596211.1_Frame_Shift_Ins_p.N31fs|ZNF675_ENST00000599168.1_Frame_Shift_Ins_p.N31fs|ZNF675_ENST00000601935.1_Frame_Shift_Ins_p.N31fs	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTAAAATCACATTTTTATATAA	0.386																																							uc002nri.2		NA																	0				ovary(1)|kidney(1)	2						c.(91-93)AATfs		zinc finger protein 675																																				SO:0001589	frameshift_variant	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23845871_23845872insT		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.93dupA	19.37:g.23845876_23845876dupT	ENSP00000352836:p.Asn31fs						p.N31fs	NM_138330	NP_612203	Q8TD23	ZN675_HUMAN			2	274_275	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	31			KRAB.		Q8N211	Frame_Shift_Ins	INS	ENST00000359788.4	37	c.92_93insA	CCDS32981.1																																																																																				0.386	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		7	189	NA	NA	NA	NA	NA	7	189	---	---	---	---
