#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FCN3	8547	broad.mit.edu	37	1	27697413	27697413	+	Silent	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr1:27697413G>A	ENST00000270879.4	-	6	449	c.444C>T	c.(442-444)tcC>tcT	p.S148S	FCN3_ENST00000354982.2_Silent_p.S137S	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	148	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTGTAGGAGGACCAAGAGC	0.562																																						uc001boa.2		NA																	0					0						c.(442-444)TCC>TCT		ficolin 3 isoform 1 precursor							57.0	63.0	61.0					1																	27697413		2203	4300	6503	SO:0001819	synonymous_variant	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27697413G>A	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.444C>T	1.37:g.27697413G>A						FCN3_uc001bob.2_Silent_p.S137S	p.S148S	NM_003665	NP_003656	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	6	450	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	148			Fibrinogen C-terminal.		Q6IBJ5|Q8WW86	Silent	SNP	ENST00000270879.4	37	c.444C>T	CCDS300.1																																																																																				0.562	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			11	64	0	0	0	0	11	64				
C1orf94	84970	broad.mit.edu	37	1	34666421	34666421	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr1:34666421T>C	ENST00000488417.1	+	3	1178	c.1058T>C	c.(1057-1059)tTt>tCt	p.F353S	C1orf94_ENST00000373374.3_Missense_Mutation_p.F163S	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	353										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGGAGCCTCTTTCTCAGCCAG	0.582																																						uc001bxs.3		NA																	0					0						c.(487-489)TTT>TCT		hypothetical protein LOC84970 isoform b							70.0	67.0	68.0					1																	34666421		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34666421T>C	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1058T>C	1.37:g.34666421T>C	ENSP00000435634:p.Phe353Ser					C1orf94_uc001bxt.2_Missense_Mutation_p.F353S	p.F163S	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN			3	887	+		Myeloproliferative disorder(586;0.0393)	163					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.488T>C	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.995546	0.54147	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.30182	1.54;1.54	5.61	1.88	0.25563	.	0.494570	0.18864	N	0.129026	T	0.22666	0.0547	L	0.55481	1.735	0.29474	N	0.856861	P	0.36535	0.557	B	0.31101	0.124	T	0.16158	-1.0412	10	0.62326	D	0.03	-18.1638	5.3113	0.15831	0.0:0.0908:0.3558:0.5534	.	353	Q6P1W5	CA094_HUMAN	S	163;353	ENSP00000362472:F163S;ENSP00000435634:F353S	ENSP00000362472:F163S	F	+	2	0	C1orf94	34439008	0.998000	0.40836	0.998000	0.56505	0.309000	0.27889	0.797000	0.26999	0.353000	0.24079	0.533000	0.62120	TTT		0.582	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		7	61	0	0	0	0	7	61				
SLC26A9	115019	broad.mit.edu	37	1	205904863	205904863	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr1:205904863C>T	ENST00000367135.3	-	2	199	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	SLC26A9_ENST00000367134.2_Missense_Mutation_p.R29Q|RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000340781.4_Missense_Mutation_p.R29Q	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	29					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGGGTATGTCCGGTCCTTCTT	0.547																																						uc001hdq.2		NA																	0				ovary(1)|skin(1)	2						c.(85-87)CGG>CAG		solute carrier family 26, member 9 isoform a							217.0	191.0	200.0					1																	205904863		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205904863C>T	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.86G>A	1.37:g.205904863C>T	ENSP00000356103:p.Arg29Gln					SLC26A9_uc001hdp.2_Missense_Mutation_p.R29Q	p.R29Q	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		2	200	-	Breast(84;0.201)		29					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.86G>A	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186025	0.94885	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.92858	-3.12;-3.07;-3.12	5.21	5.21	0.72293	.	0.662395	0.11722	U	0.535794	D	0.95316	0.8480	M	0.62723	1.935	0.47276	D	0.999373	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	D	0.92192	0.5760	10	0.20519	T	0.43	.	18.3498	0.90335	0.0:1.0:0.0:0.0	.	29;29	Q7LBE3;B1AVM8	S26A9_HUMAN;.	Q	29	ENSP00000341682:R29Q;ENSP00000356103:R29Q;ENSP00000356102:R29Q	ENSP00000341682:R29Q	R	-	2	0	SLC26A9	204171486	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.839000	0.69395	2.448000	0.82819	0.655000	0.94253	CGG		0.547	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		14	90	0	0	0	0	14	90				
IDE	3416	broad.mit.edu	37	10	94268582	94268582	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr10:94268582G>C	ENST00000265986.6	-	7	1019	c.963C>G	c.(961-963)gaC>gaG	p.D321E		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	321					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	ATTTCTGAAGGTCAGGTATGG	0.363																																						uc001kia.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(961-963)GAC>GAG		insulin-degrading enzyme isoform 1 precursor	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						155.0	156.0	156.0					10																	94268582		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94268582G>C	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.963C>G	10.37:g.94268582G>C	ENSP00000265986:p.Asp321Glu						p.D321E	NM_004969	NP_004960	P14735	IDE_HUMAN			7	1039	-			321					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.963C>G	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169718	0.57584	.	.	ENSG00000119912	ENST00000265986	T	0.07567	3.18	5.28	1.16	0.20824	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.24353	0.0590	M	0.74546	2.27	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.00726	-1.1592	10	0.54805	T	0.06	-18.4943	10.9496	0.47321	0.3486:0.0:0.6514:0.0	.	321	P14735	IDE_HUMAN	E	321	ENSP00000265986:D321E	ENSP00000265986:D321E	D	-	3	2	IDE	94258562	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.715000	0.47210	0.288000	0.22398	-0.262000	0.10625	GAC		0.363	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		11	112	0	0	0	0	11	112				
COL17A1	1308	broad.mit.edu	37	10	105821185	105821185	+	Silent	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr10:105821185G>A	ENST00000353479.5	-	13	1247	c.957C>T	c.(955-957)aaC>aaT	p.N319N	COL17A1_ENST00000393211.3_Silent_p.N319N|COL17A1_ENST00000369733.3_Silent_p.N319N	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	319	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAACGCCAGTGTTCACAGCCG	0.577																																						uc001kxr.2		NA																	0				ovary(4)|pancreas(1)	5						c.(955-957)AAC>AAT		alpha 1 type XVII collagen							65.0	52.0	56.0					10																	105821185		2203	4300	6503	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105821185G>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.957C>T	10.37:g.105821185G>A						COL17A1_uc010qqv.1_Silent_p.N303N	p.N319N	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	13	1126	-		Colorectal(252;0.103)|Breast(234;0.122)	319			Cytoplasmic (Potential).|Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.957C>T	CCDS7554.1																																																																																				0.577	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		5	25	0	0	0	0	5	25				
DCLRE1A	9937	broad.mit.edu	37	10	115601164	115601164	+	Splice_Site	SNP	C	C	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr10:115601164C>G	ENST00000361384.2	-	7	3738		c.e7+1		DCLRE1A_ENST00000369305.1_Splice_Site	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A						mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGAATGCTTACCTTAAAATTA	0.323								Other identified genes with known or suspected DNA repair function																														uc001law.2		NA																	0				skin(2)	2						c.e7+1	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA cross-link repair 1A							81.0	79.0	80.0					10																	115601164		2203	4300	6503	SO:0001630	splice_region_variant	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115601164C>G		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2820+1G>C	10.37:g.115601164C>G							p.K940_splice	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	7	3738	-								D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Splice_Site	SNP	ENST00000361384.2	37	c.2820_splice	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267951	0.80469	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9178	0.86156	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCLRE1A	115591154	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.088000	0.76901	2.591000	0.87537	0.585000	0.79938	.		0.323	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881	Intron	4	48	0	0	0	0	4	48				
DMBT1	1755	broad.mit.edu	37	10	124389869	124389869	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr10:124389869G>A	ENST00000338354.3	+	45	5607	c.5501G>A	c.(5500-5502)aGt>aAt	p.S1834N	DMBT1_ENST00000368956.2_Missense_Mutation_p.S1206N|DMBT1_ENST00000359586.6_Missense_Mutation_p.S554N|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1824N|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1206N|DMBT1_ENST00000368909.3_Missense_Mutation_p.S1834N|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1824N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1834	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGAATAGCAGTCTCCTGCTG	0.368																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(5500-5502)AGT>AAT		deleted in malignant brain tumors 1 isoform b							136.0	131.0	132.0					10																	124389869		1861	4109	5970	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124389869G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5501G>A	10.37:g.124389869G>A	ENSP00000342210:p.Ser1834Asn					DMBT1_uc001lgl.1_Missense_Mutation_p.S1824N|DMBT1_uc001lgm.1_Missense_Mutation_p.S1206N|DMBT1_uc009xzz.1_Missense_Mutation_p.S1834N|DMBT1_uc010qtx.1_Missense_Mutation_p.S554N|DMBT1_uc009yab.1_Missense_Mutation_p.S537N|DMBT1_uc009yac.1_Missense_Mutation_p.S128N	p.S1834N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			45	5607	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1834			CUB 1.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.5501G>A		.	.	.	.	.	.	.	.	.	.	G	8.715	0.913069	0.17907	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.34	-1.76	0.08006	CUB (5);	.	.	.	.	T	0.32585	0.0834	L	0.46567	1.45	0.09310	N	1	B;B;B;B;D;P;B	0.56968	0.019;0.104;0.019;0.178;0.978;0.459;0.256	B;B;B;B;P;B;P	0.53649	0.018;0.153;0.018;0.316;0.731;0.425;0.466	T	0.31530	-0.9940	9	0.24483	T	0.36	.	8.259	0.31773	0.1862:0.5757:0.2381:0.0	.	554;1814;1083;1963;1206;1824;1834	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	N	1834;1963;1834;1834;1834;1834;1206;1824;1206;1206;1834;1824;1206;554	ENSP00000342210:S1834N;ENSP00000343175:S1824N;ENSP00000327747:S1206N;ENSP00000357905:S1834N;ENSP00000357951:S1824N;ENSP00000357952:S1206N;ENSP00000352593:S554N	ENSP00000331522:S1206N	S	+	2	0	DMBT1	124379859	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.023000	0.03607	-0.199000	0.10317	0.655000	0.94253	AGT		0.368	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		4	60	0	0	0	0	4	60				
CCKBR	887	broad.mit.edu	37	11	6290927	6290927	+	Silent	SNP	T	T	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr11:6290927T>G	ENST00000334619.2	+	2	373	c.180T>G	c.(178-180)ctT>ctG	p.L60L	CCKBR_ENST00000525014.1_Silent_p.L60L|CCKBR_ENST00000531712.1_3'UTR|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525462.1_Silent_p.L60L	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	60					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAATCACTCTTTACGCAGTGA	0.532																																						uc001mcp.2		NA																	0				lung(5)|ovary(2)|breast(1)	8						c.(178-180)CTT>CTG		cholecystokinin B receptor	Pentagastrin(DB00183)						101.0	90.0	94.0					11																	6290927		2201	4296	6497	SO:0001819	synonymous_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6290927T>G	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.180T>G	11.37:g.6290927T>G						CCKBR_uc001mcq.2_5'UTR|CCKBR_uc001mcr.2_Silent_p.L60L|CCKBR_uc001mcs.2_Silent_p.L60L	p.L60L	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	2	373	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	60			Helical; Name=1; (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	c.180T>G	CCDS7761.1																																																																																				0.532	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		7	71	0	0	0	0	7	71				
DAK	26007	broad.mit.edu	37	11	61105464	61105464	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr11:61105464G>A	ENST00000394900.3	+	3	284	c.55G>A	c.(55-57)Gct>Act	p.A19T	DAK_ENST00000530057.1_3'UTR	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	19	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.			A -> S (in Ref. 4; BAD97300). {ECO:0000305}.	carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TGACGCTCTTGCTGGCCTGGT	0.622																																						uc001nre.2		NA																	0					0						c.(55-57)GCT>ACT		dihydroxyacetone kinase 2							85.0	70.0	75.0					11																	61105464		2203	4299	6502	SO:0001583	missense	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61105464G>A		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.55G>A	11.37:g.61105464G>A	ENSP00000378360:p.Ala19Thr					DDB1_uc010rlf.1_Intron|DAK_uc009ynm.1_5'UTR	p.A19T	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN			3	312	+			19	A -> S (in Ref. 3; BAD97300).		DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.55G>A	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331860	0.41297	.	.	ENSG00000149476	ENST00000394900;ENST00000532173;ENST00000524968;ENST00000529479	T;T;T	0.31510	1.49;1.49;1.49	5.8	3.94	0.45596	Dak kinase (2);	0.510041	0.23096	N	0.051962	T	0.20780	0.0500	N	0.20685	0.6	0.24933	N	0.991908	B	0.14012	0.009	B	0.19666	0.026	T	0.15292	-1.0442	10	0.31617	T	0.26	-1.8698	12.3151	0.54951	0.1384:0.0:0.8616:0.0	.	19	Q3LXA3	DHAK_HUMAN	T	19;19;19;18	ENSP00000378360:A19T;ENSP00000431844:A19T;ENSP00000432539:A18T	ENSP00000378360:A19T	A	+	1	0	DAK	60862040	0.940000	0.31905	0.911000	0.35937	0.953000	0.61014	1.849000	0.39318	0.824000	0.34613	-0.300000	0.09419	GCT		0.622	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		17	95	0	0	0	0	17	95				
CDK2AP2	10263	broad.mit.edu	37	11	67274859	67274859	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr11:67274859C>T	ENST00000301488.3	-	3	838	c.290G>A	c.(289-291)aGc>aAc	p.S97N	PITPNM1_ENST00000436757.2_5'Flank|PITPNM1_ENST00000356404.3_5'Flank|CDK2AP2_ENST00000531506.1_Missense_Mutation_p.S97N	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	97										lung(1)	1						CTCCATGGCGCTCTTGCTGCC	0.607																																						uc001oma.2		NA																	0					0						c.(289-291)AGC>AAC		cyclin-dependent kinase 2 associated protein 2							63.0	64.0	64.0					11																	67274859		2200	4295	6495	SO:0001583	missense	10263							g.chr11:67274859C>T	AF089814	CCDS8169.1	11q13	2010-05-17	2008-11-04		ENSG00000167797	ENSG00000167797			30833	protein-coding gene	gene with protein product	"""tumor suppressor deleted in oral cancer related 1"""		"""CDK2-associated protein 2"""			10082655	Standard	NM_005851		Approved	DOC-1R, p14	uc001oma.4	O75956		ENST00000301488.3:c.290G>A	11.37:g.67274859C>T	ENSP00000301488:p.Ser97Asn					PITPNM1_uc001oly.2_5'Flank|PITPNM1_uc001olz.2_5'Flank|CDK2AP2_uc009yry.2_RNA|CDK2AP2_uc001omb.2_Missense_Mutation_p.S106N	p.S97N	NM_005851	NP_005842	O75956	CDKA2_HUMAN			3	839	-			97						Missense_Mutation	SNP	ENST00000301488.3	37	c.290G>A	CCDS8169.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039173	0.93630	.	.	ENSG00000167797	ENST00000301488;ENST00000531506	.	.	.	5.14	5.14	0.70334	.	0.041391	0.85682	D	0.000000	T	0.74435	0.3716	L	0.52206	1.635	0.80722	D	1	D;D	0.76494	0.999;0.991	D;D	0.83275	0.996;0.982	T	0.74680	-0.3584	9	0.52906	T	0.07	-12.3364	16.138	0.81502	0.0:1.0:0.0:0.0	.	97;97	Q6IAV4;O75956	.;CDKA2_HUMAN	N	97	.	ENSP00000301488:S97N	S	-	2	0	CDK2AP2	67031435	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.456000	0.66665	2.670000	0.90874	0.561000	0.74099	AGC		0.607	CDK2AP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395535.1	NM_005851		12	92	0	0	0	0	12	92				
ZW10	9183	broad.mit.edu	37	11	113609058	113609058	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr11:113609058T>A	ENST00000200135.3	-	13	1956	c.1812A>T	c.(1810-1812)ttA>ttT	p.L604F		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	604					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TAGCACTTGATAATCTTTCCA	0.403																																						uc001poe.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1810-1812)TTA>TTT		centromere/kinetochore protein zw10							103.0	98.0	100.0					11																	113609058		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113609058T>A	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1812A>T	11.37:g.113609058T>A	ENSP00000200135:p.Leu604Phe					ZW10_uc009yyv.2_RNA	p.L604F	NM_004724	NP_004715	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	13	1849	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	604					A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.1812A>T	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	T	18.13	3.555301	0.65425	.	.	ENSG00000086827	ENST00000200135	T	0.60920	0.15	5.26	-0.197	0.13228	.	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	M	0.76574	2.34	0.58432	D	0.999999	D	0.76494	0.999	D	0.75484	0.986	T	0.62421	-0.6858	10	0.52906	T	0.07	-6.4647	0.3778	0.00390	0.2247:0.2725:0.1814:0.3214	.	604	O43264	ZW10_HUMAN	F	604	ENSP00000200135:L604F	ENSP00000200135:L604F	L	-	3	2	ZW10	113114268	0.001000	0.12720	1.000000	0.80357	0.993000	0.82548	-1.708000	0.01891	0.298000	0.22638	0.460000	0.39030	TTA		0.403	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		11	49	0	0	0	0	11	49				
CDKN1B	1027	broad.mit.edu	37	12	12871015	12871015	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:12871015A>G	ENST00000228872.4	+	1	958	c.242A>G	c.(241-243)aAg>aGg	p.K81R	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Missense_Mutation_p.K81R	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	81					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GAGGTGGAGAAGGGCAGCTTG	0.612																																						uc001rat.2		NA																	0				ovary(1)|lung(1)	2						c.(241-243)AAG>AGG		cyclin-dependent kinase inhibitor 1B							71.0	81.0	78.0					12																	12871015		2203	4300	6503	SO:0001583	missense	1027	Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4			autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12871015A>G	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.242A>G	12.37:g.12871015A>G	ENSP00000228872:p.Lys81Arg						p.K81R	NM_004064	NP_004055	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	714	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	81					Q16307|Q5U0H2|Q9BUS6	Missense_Mutation	SNP	ENST00000228872.4	37	c.242A>G	CCDS8653.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.251923	0.22880	.	.	ENSG00000111276	ENST00000228872;ENST00000535674;ENST00000396340	D;D	0.83914	-1.78;-1.73	5.4	2.66	0.31614	.	0.308598	0.35677	N	0.003049	T	0.68568	0.3015	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.49854	-0.8895	10	0.16420	T	0.52	-19.1798	7.3123	0.26481	0.6965:0.0:0.3035:0.0	.	81	P46527	CDN1B_HUMAN	R	81;30;81	ENSP00000228872:K81R;ENSP00000379629:K81R	ENSP00000228872:K81R	K	+	2	0	CDKN1B	12762282	0.995000	0.38212	0.991000	0.47740	0.989000	0.77384	1.594000	0.36697	0.678000	0.31325	0.528000	0.53228	AAG		0.612	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		9	86	0	0	0	0	9	86				
LMNTD1	160492	broad.mit.edu	37	12	25671777	25671777	+	Silent	SNP	A	A	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:25671777A>G	ENST00000282881.6	-	7	1227	c.1078T>C	c.(1078-1080)Ttg>Ctg	p.L360L	IFLTD1_ENST00000458174.2_Silent_p.L381L|IFLTD1_ENST00000445693.1_Silent_p.L297L|IFLTD1_ENST00000539744.1_Silent_p.L263L|IFLTD1_ENST00000413632.2_Silent_p.L341L	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		360					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TGTCTATCCAATCTGCCTCCA	0.517											OREG0031252	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc001rgs.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1078-1080)TTG>CTG		intermediate filament tail domain containing 1							150.0	134.0	140.0					12																	25671777		2203	4300	6503	SO:0001819	synonymous_variant	160492					intermediate filament	structural molecule activity	g.chr12:25671777A>G																												ENST00000282881.6:c.1078T>C	12.37:g.25671777A>G			OREG0031252	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	780	IFLTD1_uc001rgt.1_Silent_p.L263L|IFLTD1_uc010sji.1_Silent_p.L381L|IFLTD1_uc010sjj.1_Silent_p.L297L|IFLTD1_uc009zjc.2_Silent_p.L341L	p.L360L	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN			7	1228	-	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		360					B4DL27|B4DY70|Q8IY38	Silent	SNP	ENST00000282881.6	37	c.1078T>C	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	A	3.450	-0.112139	0.06881	.	.	ENSG00000152936	ENST00000543629	.	.	.	4.74	-0.559	0.11792	.	.	.	.	.	T	0.21841	0.0526	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25916	-1.0118	4	.	.	.	-7.4197	3.4881	0.07627	0.5259:0.0:0.3066:0.1675	.	.	.	.	T	134	.	.	I	-	2	0	IFLTD1	25563044	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.444000	0.21661	0.012000	0.14892	-0.468000	0.05107	ATT		0.517	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			6	73	0	0	0	0	6	73				
CORO1C	23603	broad.mit.edu	37	12	109051107	109051107	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:109051107G>C	ENST00000261401.3	-	6	895	c.723C>G	c.(721-723)agC>agG	p.S241R	CORO1C_ENST00000541050.1_Missense_Mutation_p.S241R|CORO1C_ENST00000549772.1_Missense_Mutation_p.S247R|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000421578.2_Missense_Mutation_p.S136R|CORO1C_ENST00000420959.2_Missense_Mutation_p.S294R	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	241					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GCTGCCGCTCGCTCATGCGGC	0.562																																						uc001tnj.2		NA																	0				skin(3)	3						c.(721-723)AGC>AGG		coronin, actin binding protein, 1C isoform 1							87.0	87.0	87.0					12																	109051107		2203	4300	6503	SO:0001583	missense	23603				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	g.chr12:109051107G>C	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.723C>G	12.37:g.109051107G>C	ENSP00000261401:p.Ser241Arg					CORO1C_uc009zva.2_Missense_Mutation_p.S294R|CORO1C_uc010sxf.1_Missense_Mutation_p.S204R	p.S241R	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN			6	819	-			241					A7MAP0|A7MAP1|B3KU12|Q9NSK5	Missense_Mutation	SNP	ENST00000261401.3	37	c.723C>G	CCDS9120.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233694	0.58886	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000421578;ENST00000549772;ENST00000420959	T;T;T;T;T	0.67523	-0.24;-0.24;1.02;-0.17;-0.27	5.26	-6.27	0.02026	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.76433	2.335	0.58432	D	0.999991	P;D;D	0.71674	0.943;0.998;0.998	P;D;D	0.65874	0.708;0.938;0.939	T	0.79541	-0.1761	10	0.59425	D	0.04	-10.9311	16.751	0.85485	0.5598:0.0:0.4402:0.0	.	204;294;241	B4DMH3;A7MAP1;Q9ULV4	.;.;COR1C_HUMAN	R	241;241;136;247;294	ENSP00000261401:S241R;ENSP00000438341:S241R;ENSP00000415554:S136R;ENSP00000447534:S247R;ENSP00000394496:S294R	ENSP00000261401:S241R	S	-	3	2	CORO1C	107575236	0.002000	0.14202	0.661000	0.29709	0.889000	0.51656	-1.073000	0.03430	-1.728000	0.01366	-1.917000	0.00517	AGC		0.562	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325		9	60	0	0	0	0	9	60				
OAS1	4938	broad.mit.edu	37	12	113348885	113348885	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:113348885C>T	ENST00000202917.5	+	3	762	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000452357.2_Missense_Mutation_p.P167S|OAS1_ENST00000551241.1_Missense_Mutation_p.P167S|OAS1_ENST00000445409.2_Missense_Mutation_p.P167S	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	167					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						TAAACCTAACCCCCAAATCTA	0.498																																						uc001tud.2		NA																	0				ovary(2)	2						c.(499-501)CCC>TCC		2',5'-oligoadenylate synthetase 1 isoform 1							82.0	74.0	77.0					12																	113348885		2203	4300	6503	SO:0001583	missense	4938				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113348885C>T	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.499C>T	12.37:g.113348885C>T	ENSP00000202917:p.Pro167Ser					OAS1_uc010syn.1_Missense_Mutation_p.P166S|OAS1_uc010syo.1_Intron|OAS1_uc001tub.2_Missense_Mutation_p.P167S|OAS1_uc001tuc.2_Missense_Mutation_p.P167S|OAS1_uc009zwf.2_Missense_Mutation_p.P166S	p.P167S	NM_016816	NP_058132	P00973	OAS1_HUMAN			3	605	+			167					A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	c.499C>T	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451358	0.43531	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000550689	T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92	4.31	3.42	0.39159	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.585543	0.15175	N	0.276408	T	0.10208	0.0250	L	0.54908	1.71	0.47308	D	0.999384	B;P;B;P;B	0.41947	0.183;0.766;0.183;0.714;0.152	B;B;B;B;B	0.35971	0.213;0.21;0.213;0.215;0.078	T	0.11131	-1.0600	10	0.44086	T	0.13	-8.2472	8.1558	0.31167	0.0:0.8893:0.0:0.1107	.	167;167;167;167;167	E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;OAS1_HUMAN;.;.	S	167;167;167;167;167;163	ENSP00000202917:P167S;ENSP00000388001:P167S;ENSP00000415721:P167S;ENSP00000448790:P167S;ENSP00000448348:P163S	ENSP00000202917:P167S	P	+	1	0	OAS1	111833268	0.020000	0.18652	0.513000	0.27749	0.456000	0.32438	0.526000	0.22971	1.179000	0.42884	0.561000	0.74099	CCC		0.498	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			3	30	0	0	0	0	3	30				
POP5	51367	broad.mit.edu	37	12	121017178	121017178	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:121017178G>T	ENST00000357500.4	-	5	470	c.435C>A	c.(433-435)agC>agA	p.S145R	POP5_ENST00000341039.2_Missense_Mutation_p.S95R|POP5_ENST00000542776.1_5'UTR	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	145					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CTAATAAGCAGCTTCTTGTCA	0.512																																						uc001tys.2		NA																	0					0						c.(433-435)AGC>AGA		processing of precursor 5 isoform a							106.0	105.0	105.0					12																	121017178		2203	4300	6503	SO:0001583	missense	51367				tRNA processing		protein binding|ribonuclease P activity	g.chr12:121017178G>T	AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.435C>A	12.37:g.121017178G>T	ENSP00000350098:p.Ser145Arg					POP5_uc001tyt.2_Missense_Mutation_p.S95R	p.S145R	NM_015918	NP_057002	Q969H6	POP5_HUMAN			5	467	-	all_neural(191;0.077)|Medulloblastoma(191;0.0922)		145					A6NL80|Q53FS5|Q9Y2Q6	Missense_Mutation	SNP	ENST00000357500.4	37	c.435C>A	CCDS9202.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094195	0.76870	.	.	ENSG00000167272	ENST00000341039;ENST00000357500	.	.	.	4.62	3.72	0.42706	.	0.090667	0.85682	D	0.000000	T	0.53318	0.1789	M	0.69823	2.125	0.39218	D	0.963457	B;B	0.33073	0.001;0.396	B;B	0.31614	0.001;0.133	T	0.61598	-0.7030	9	0.52906	T	0.07	-22.0111	10.2157	0.43166	0.0975:0.0:0.9025:0.0	.	95;145	A6NL80;Q969H6	.;POP5_HUMAN	R	95;145	.	ENSP00000341791:S95R	S	-	3	2	POP5	119501561	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	2.698000	0.47068	2.550000	0.86006	0.655000	0.94253	AGC		0.512	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1	NM_015918		9	83	1	0	0.00448238	0.00487706	9	83				
PITPNM2	57605	broad.mit.edu	37	12	123475222	123475222	+	Silent	SNP	T	T	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:123475222T>C	ENST00000542749.1	-	15	2502	c.2439A>G	c.(2437-2439)caA>caG	p.Q813Q	PITPNM2_ENST00000392428.1_Silent_p.Q534Q|PITPNM2_ENST00000280562.5_Silent_p.Q861Q|PITPNM2_ENST00000320201.4_Silent_p.Q813Q			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	813	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGCCATGCTCTTGGAAGGCTG	0.672																																						uc001uej.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2437-2439)CAA>CAG		phosphatidylinositol transfer protein,							50.0	41.0	44.0					12																	123475222		2203	4300	6503	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123475222T>C	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2439A>G	12.37:g.123475222T>C						PITPNM2_uc001uek.1_Silent_p.Q861Q	p.Q813Q	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	16	2578	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		813			DDHD.		Q9P271	Silent	SNP	ENST00000542749.1	37	c.2439A>G	CCDS9242.1																																																																																				0.672	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		3	31	0	0	0	0	3	31				
BRCA2	675	broad.mit.edu	37	13	32913306	32913306	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr13:32913306T>A	ENST00000380152.3	+	11	5047	c.4814T>A	c.(4813-4815)gTt>gAt	p.V1605D	BRCA2_ENST00000544455.1_Missense_Mutation_p.V1605D			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1605	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAACCTTGTTTCTATTGAG	0.343			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(4813-4815)GTT>GAT	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							66.0	72.0	70.0					13																	32913306		2203	4300	6503	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32913306T>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4814T>A	13.37:g.32913306T>A	ENSP00000369497:p.Val1605Asp	TCGA Ovarian(8;0.087)					p.V1605D	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	5041	+		Lung SC(185;0.0262)	1605					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.4814T>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.802123	0.31869	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00940	5.52;5.52	5.64	3.18	0.36537	.	1.741150	0.02637	N	0.104887	T	0.01523	0.0049	L	0.53249	1.67	0.09310	N	0.999991	B	0.25048	0.117	B	0.20184	0.028	T	0.49293	-0.8955	10	0.54805	T	0.06	.	3.1746	0.06564	0.1393:0.0746:0.1457:0.6404	.	1605	P51587	BRCA2_HUMAN	D	1605	ENSP00000369497:V1605D;ENSP00000439902:V1605D	ENSP00000369497:V1605D	V	+	2	0	BRCA2	31811306	0.973000	0.33851	0.006000	0.13384	0.054000	0.15201	0.638000	0.24674	0.406000	0.25560	0.533000	0.62120	GTT		0.343	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		4	75	0	0	0	0	4	75				
OR4K15	81127	broad.mit.edu	37	14	20443692	20443692	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr14:20443692A>C	ENST00000305051.5	+	1	90	c.15A>C	c.(13-15)ttA>ttC	p.L5F		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACTTCATTAACTGATCTCT	0.363																																						uc010tkx.1		NA																	0				ovary(1)	1						c.(13-15)TTA>TTC		olfactory receptor, family 4, subfamily K,							59.0	59.0	59.0					14																	20443692		2203	4299	6502	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20443692A>C		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.15A>C	14.37:g.20443692A>C	ENSP00000304077:p.Leu5Phe						p.L5F	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	15	+	all_cancers(95;0.00108)		5			Extracellular (Potential).		B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.15A>C	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	10.38	1.333285	0.24167	.	.	ENSG00000169488	ENST00000305051	T	0.18810	2.19	3.2	-6.41	0.01938	.	.	.	.	.	T	0.08537	0.0212	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36237	-0.9756	9	0.66056	D	0.02	.	6.0014	0.19523	0.6316:0.0:0.2294:0.139	.	5	Q8NH41	OR4KF_HUMAN	F	5	ENSP00000304077:L5F	ENSP00000304077:L5F	L	+	3	2	OR4K15	19513532	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-1.078000	0.03413	-1.343000	0.02219	0.383000	0.25322	TTA		0.363	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			3	57	0	0	0	0	3	57				
CCNB1IP1	57820	broad.mit.edu	37	14	20779905	20779905	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr14:20779905T>C	ENST00000398169.3	-	7	1254	c.638A>G	c.(637-639)aAc>aGc	p.N213S	CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.N213S|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.N213S|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.N213S|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.N213S|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.N213S			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	213					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		AAACTTGGAGTTGTTACCTAG	0.348			T	HMGA2	leiomyoma																																	uc001vwv.2		NA		Dom	yes		14	14q11.2	57820	T	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""			M	HMGA2		leiomyoma	HMGA2/CCNB1IP1(2)	0				soft_tissue(2)|ovary(1)	3						c.(637-639)AAC>AGC		cyclin B1 interacting protein 1 isoform 3							59.0	59.0	59.0					14																	20779905		2203	4300	6503	SO:0001583	missense	57820					chromosome|nucleus	ligase activity|metal ion binding|protein binding	g.chr14:20779905T>C	AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.638A>G	14.37:g.20779905T>C	ENSP00000381235:p.Asn213Ser					CCNB1IP1_uc001vww.2_Missense_Mutation_p.N213S|CCNB1IP1_uc001vwx.2_Missense_Mutation_p.N213S|CCNB1IP1_uc001vwy.2_Missense_Mutation_p.N213S|CCNB1IP1_uc001vwz.2_Missense_Mutation_p.N213S	p.N213S	NM_182851	NP_878271	Q9NPC3	CIP1_HUMAN	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)	7	1287	-	all_cancers(95;0.00092)	all_lung(585;0.235)	213						Missense_Mutation	SNP	ENST00000398169.3	37	c.638A>G	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	T	1.311	-0.602292	0.03744	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163	.	.	.	5.0	-3.4	0.04853	.	0.891322	0.09806	N	0.753468	T	0.10981	0.0268	N	0.04508	-0.205	0.19945	N	0.99994	B	0.02656	0.0	B	0.01281	0.0	T	0.31530	-0.9940	9	0.08837	T	0.75	-1.9606	1.7826	0.03035	0.1159:0.2575:0.3234:0.3032	.	213	Q9NPC3	CIP1_HUMAN	S	213	.	ENSP00000337396:N213S	N	-	2	0	CCNB1IP1	19849745	0.159000	0.22864	0.937000	0.37676	0.359000	0.29487	-0.289000	0.08365	-0.268000	0.09312	0.528000	0.53228	AAC		0.348	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	NM_021178, NM_182849, NM_182851, NM_182852		8	51	0	0	0	0	8	51				
SCFD1	23256	broad.mit.edu	37	14	31122764	31122764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr14:31122764G>A	ENST00000458591.2	+	10	1052	c.825G>A	c.(823-825)tgG>tgA	p.W275*	SCFD1_ENST00000421551.3_Nonsense_Mutation_p.W216*|SCFD1_ENST00000544052.2_Nonsense_Mutation_p.W208*|SCFD1_ENST00000396629.2_Nonsense_Mutation_p.W183*|SCFD1_ENST00000541123.1_Nonsense_Mutation_p.W90*	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	275					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		ATCATACTTGGACATATCAAG	0.328																																						uc001wqm.1		NA																	0					0						c.(823-825)TGG>TGA		vesicle transport-related protein isoform a							137.0	131.0	133.0					14																	31122764		2203	4300	6503	SO:0001587	stop_gained	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31122764G>A	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.825G>A	14.37:g.31122764G>A	ENSP00000390783:p.Trp275*					SCFD1_uc001wqn.1_Nonsense_Mutation_p.W208*|SCFD1_uc010tpg.1_Nonsense_Mutation_p.W216*|SCFD1_uc010tph.1_Nonsense_Mutation_p.W90*|SCFD1_uc010amf.1_Nonsense_Mutation_p.W90*|SCFD1_uc010tpi.1_Nonsense_Mutation_p.W183*|SCFD1_uc010amd.1_Nonsense_Mutation_p.W107*|SCFD1_uc010ame.1_Nonsense_Mutation_p.W208*	p.W275*	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	10	849	+	Hepatocellular(127;0.0877)		275					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Nonsense_Mutation	SNP	ENST00000458591.2	37	c.825G>A	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	G	38	6.853881	0.97889	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000396629;ENST00000469043	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.0034	18.9017	0.92444	0.0:0.0:1.0:0.0	.	.	.	.	X	275;208;216;90;183;130	.	ENSP00000309417:W283X	W	+	3	0	SCFD1	30192515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.567000	0.90737	2.711000	0.92665	0.591000	0.81541	TGG		0.328	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		5	91	0	0	0	0	5	91				
HERPUD1	9709	broad.mit.edu	37	16	56973962	56973962	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr16:56973962A>T	ENST00000439977.2	+	6	907	c.710A>T	c.(709-711)aAt>aTt	p.N237I	HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000379792.2_Missense_Mutation_p.N212I|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000300302.5_Missense_Mutation_p.N236I|RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000344114.4_Intron	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	237					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						GTGGTTGTTAATCCTGGAGCC	0.463			T	ERG	prostate																																	uc002eke.1		NA		Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		0					0						c.(709-711)AAT>ATT		homocysteine-inducible, endoplasmic reticulum							116.0	108.0	110.0					16																	56973962		2198	4300	6498	SO:0001583	missense	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56973962A>T	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.710A>T	16.37:g.56973962A>T	ENSP00000409555:p.Asn237Ile					HERPUD1_uc002ekf.1_Missense_Mutation_p.N236I|HERPUD1_uc002ekg.1_Missense_Mutation_p.N212I|HERPUD1_uc010cco.1_Missense_Mutation_p.N298I|HERPUD1_uc010ccp.1_Intron|HERPUD1_uc002ekh.1_Missense_Mutation_p.N55I	p.N237I	NM_014685	NP_055500	Q15011	HERP1_HUMAN			6	1119	+			237			Cytoplasmic (Potential).		E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	c.710A>T	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.665143	0.88251	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302	T	0.16897	2.31	5.89	5.89	0.94794	.	0.094233	0.64402	D	0.000002	T	0.38214	0.1032	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.988;0.999;0.986	T	0.05954	-1.0854	10	0.22109	T	0.4	-26.3849	15.4938	0.75632	1.0:0.0:0.0:0.0	.	237;212;236;237	A4UAE9;E9PGD1;Q15011-2;Q15011	.;.;.;HERP1_HUMAN	I	236;212;237	ENSP00000369118:N212I	ENSP00000300302:N237I	N	+	2	0	HERPUD1	55531463	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.855000	0.75445	2.246000	0.74042	0.533000	0.62120	AAT		0.463	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			4	29	0	0	0	0	4	29				
WWOX	51741	broad.mit.edu	37	16	78466645	78466645	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr16:78466645C>A	ENST00000566780.1	+	8	1418	c.1052C>A	c.(1051-1053)tCc>tAc	p.S351Y	WWOX_ENST00000408984.3_Missense_Mutation_p.S351Y|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	351	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTCACCAAGTCCATGGTAAGA	0.512																																						uc002ffk.2		NA																	0					0						c.(1051-1053)TCC>TAC		WW domain-containing oxidoreductase isoform 1							148.0	145.0	146.0					16																	78466645		2006	4186	6192	SO:0001583	missense	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78466645C>A	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.1052C>A	16.37:g.78466645C>A	ENSP00000457230:p.Ser351Tyr					WWOX_uc010vnk.1_Missense_Mutation_p.S238Y|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron	p.S351Y	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	8	1177	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	351			Interaction with MAPT (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	c.1052C>A	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677025	0.88445	.	.	ENSG00000186153	ENST00000408984	T	0.80214	-1.35	6.08	6.08	0.98989	NAD(P)-binding domain (1);	0.062177	0.64402	D	0.000003	D	0.93664	0.7976	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.94752	0.7928	10	0.87932	D	0	.	20.6647	0.99678	0.0:1.0:0.0:0.0	.	351	Q9NZC7	WWOX_HUMAN	Y	351	ENSP00000386161:S351Y	ENSP00000386161:S351Y	S	+	2	0	WWOX	77024146	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.487000	0.81328	2.890000	0.99128	0.655000	0.94253	TCC		0.512	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			16	207	1	0	4.15e-12	5.02e-12	16	207				
ZNF276	92822	broad.mit.edu	37	16	89789965	89789965	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr16:89789965C>T	ENST00000443381.2	+	4	951	c.854C>T	c.(853-855)aCc>aTc	p.T285I	VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000568064.1_Missense_Mutation_p.P204S|ZNF276_ENST00000446326.2_Missense_Mutation_p.P82S|ZNF276_ENST00000289816.5_Missense_Mutation_p.T210I	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCCCCTCAGACCTCCCAGGGT	0.677																																						uc002fos.3		NA																	0					0						c.(853-855)ACC>ATC		zinc finger protein 276 isoform a							24.0	29.0	27.0					16																	89789965		2196	4297	6493	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89789965C>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.854C>T	16.37:g.89789965C>T	ENSP00000415836:p.Thr285Ile					C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_Missense_Mutation_p.P82S|ZNF276_uc002fop.2_Missense_Mutation_p.P204S|ZNF276_uc002foq.3_Missense_Mutation_p.T210I|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Missense_Mutation_p.P82S|ZNF276_uc010cis.2_Missense_Mutation_p.T44I|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Missense_Mutation_p.T123I|ZNF276_uc010cit.1_Missense_Mutation_p.T44I	p.T285I	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	4	951	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	285					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.854C>T	CCDS45554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.420|5.420	0.262618|0.262618	0.10294|0.10294	.|.	.|.	ENSG00000158805|ENSG00000158805	ENST00000446326|ENST00000289816;ENST00000443381	T|T;T	0.12984|0.05996	2.63|3.36;3.42	5.66|5.66	-0.899|-0.899	0.10547|0.10547	.|.	.|1.649790	.|0.02791	.|N	.|0.122018	T|T	0.04407|0.04407	0.0121|0.0121	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B|B;B	0.02656|0.02656	0.0|0.0;0.0	B|B;B	0.01281|0.01281	0.0|0.0;0.0	T|T	0.40270|0.40270	-0.9572|-0.9572	9|10	0.62326|0.35671	D|T	0.03|0.21	-0.1455|-0.1455	0.3829|0.3829	0.00398|0.00398	0.3287:0.2372:0.2496:0.1845|0.3287:0.2372:0.2496:0.1845	.|.	82|123;285	A8K186|B4DIT3;Q8N554	.|.;ZN276_HUMAN	S|I	82|210;285	ENSP00000415999:P82S|ENSP00000289816:T210I;ENSP00000415836:T285I	ENSP00000415999:P82S|ENSP00000289816:T210I	P|T	+|+	1|2	0|0	ZNF276|ZNF276	88317466|88317466	0.023000|0.023000	0.18921|0.18921	0.007000|0.007000	0.13788|0.13788	0.710000|0.710000	0.40934|0.40934	0.184000|0.184000	0.16939|0.16939	-0.076000|-0.076000	0.12775|0.12775	-0.367000|-0.367000	0.07326|0.07326	CCT|ACC		0.677	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		5	48	0	0	0	0	5	48				
COPS3	8533	broad.mit.edu	37	17	17150427	17150427	+	Silent	SNP	T	T	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr17:17150427T>A	ENST00000268717.5	-	12	1363	c.1257A>T	c.(1255-1257)ccA>ccT	p.P419P	COPS3_ENST00000539941.2_Silent_p.P399P|COPS3_ENST00000439936.2_Silent_p.P341P	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	419					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						AATAACTGGATGGTTTGTTTC	0.438																																						uc002grd.2		NA																	0				skin(1)	1						c.(1255-1257)CCA>CCT		COP9 constitutive photomorphogenic homolog							248.0	235.0	239.0					17																	17150427		2203	4300	6503	SO:0001819	synonymous_variant	8533				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding	g.chr17:17150427T>A	AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3"", ""COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"""			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.1257A>T	17.37:g.17150427T>A						COPS3_uc010vwv.1_Silent_p.P399P|COPS3_uc010vww.1_Silent_p.P289P	p.P419P	NM_003653	NP_003644	Q9UNS2	CSN3_HUMAN			12	1348	-			419					B2R683|B4DY81|O43191|Q7LDR6	Silent	SNP	ENST00000268717.5	37	c.1257A>T	CCDS11183.1																																																																																				0.438	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2			4	116	0	0	0	0	4	116				
TNS4	84951	broad.mit.edu	37	17	38634851	38634851	+	Missense_Mutation	SNP	T	T	A	rs147778475		TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr17:38634851T>A	ENST00000254051.6	-	11	2118	c.1960A>T	c.(1960-1962)Atg>Ttg	p.M654L		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	654	Phosphatase tensin-type.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TCAGGGTCCATACCACAGAAG	0.617																																						uc010cxb.2		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1960-1962)ATG>TTG		tensin 4 precursor							108.0	88.0	95.0					17																	38634851		2203	4300	6503	SO:0001583	missense	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38634851T>A	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1960A>T	17.37:g.38634851T>A	ENSP00000254051:p.Met654Leu					TNS4_uc002huu.3_Missense_Mutation_p.M67L	p.M654L	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		11	2124	-		Breast(137;0.000496)	654			Phosphatase tensin-type.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	c.1960A>T	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	T	2.443	-0.328105	0.05314	.	.	ENSG00000131746	ENST00000377816;ENST00000394072;ENST00000254051	T	0.27402	1.67	5.0	2.56	0.30785	Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	4.932270	0.00166	N	0.000001	T	0.14098	0.0341	N	0.04508	-0.205	0.28486	N	0.914734	B;B	0.15719	0.003;0.014	B;B	0.16289	0.007;0.015	T	0.35724	-0.9777	10	0.02654	T	1	-15.1025	6.1254	0.20176	0.0:0.0814:0.3164:0.6022	.	654;67	Q8IZW8;F2Z318	TENS4_HUMAN;.	L	654;67;654	ENSP00000254051:M654L	ENSP00000254051:M654L	M	-	1	0	TNS4	35888377	0.006000	0.16342	1.000000	0.80357	0.967000	0.64934	-0.020000	0.12525	0.727000	0.32360	0.379000	0.24179	ATG		0.617	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		8	59	0	0	0	0	8	59				
ALPK2	115701	broad.mit.edu	37	18	56204982	56204982	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr18:56204982C>T	ENST00000361673.3	-	5	2650	c.2437G>A	c.(2437-2439)Gga>Aga	p.G813R	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	813						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AAACACGTTCCTTGGTCACCA	0.463																																						uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(2437-2439)GGA>AGA		heart alpha-kinase							126.0	115.0	119.0					18																	56204982		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56204982C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2437G>A	18.37:g.56204982C>T	ENSP00000354991:p.Gly813Arg					ALPK2_uc002lhk.1_Missense_Mutation_p.G144R	p.G813R	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	2651	-			813					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.2437G>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	7.079	0.569836	0.13560	.	.	ENSG00000198796	ENST00000361673	T	0.46063	0.88	5.57	2.81	0.32909	.	1.307360	0.04825	N	0.437643	T	0.40015	0.1100	L	0.46157	1.445	0.09310	N	1	P;B	0.45827	0.867;0.105	B;B	0.40677	0.337;0.042	T	0.33727	-0.9857	10	0.62326	D	0.03	-1.6505	8.2657	0.31813	0.0:0.7456:0.0:0.2544	.	813;813	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	R	813	ENSP00000354991:G813R	ENSP00000354991:G813R	G	-	1	0	ALPK2	54355962	0.000000	0.05858	0.003000	0.11579	0.042000	0.13812	0.822000	0.27352	0.723000	0.32274	0.591000	0.81541	GGA		0.463	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		7	55	0	0	0	0	7	55				
PLD3	23646	broad.mit.edu	37	19	40872532	40872532	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr19:40872532G>T	ENST00000409587.1	+	4	440	c.43G>T	c.(43-45)Gag>Tag	p.E15*	PLD3_ENST00000409281.1_Nonsense_Mutation_p.E15*|PLD3_ENST00000356508.5_Nonsense_Mutation_p.E15*|PLD3_ENST00000409419.1_Nonsense_Mutation_p.E15*|PLD3_ENST00000409735.4_Nonsense_Mutation_p.E15*			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	15					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GGTGCCTGCAGAGGAGCCCGC	0.632																																						uc002onm.3		NA																	0				skin(2)|ovary(1)	3						c.(43-45)GAG>TAG		phospholipase D3							51.0	58.0	56.0					19																	40872532		2203	4300	6503	SO:0001587	stop_gained	23646				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40872532G>T	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.43G>T	19.37:g.40872532G>T	ENSP00000387050:p.Glu15*					PLD3_uc002onj.3_Nonsense_Mutation_p.E15*|PLD3_uc002onk.3_Nonsense_Mutation_p.E15*|PLD3_uc002onl.3_Nonsense_Mutation_p.E15*|PLD3_uc002onn.2_Nonsense_Mutation_p.E15*|PLD3_uc002ono.2_Nonsense_Mutation_p.E15*	p.E15*	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		4	441	+			15			Cytoplasmic (Potential).		Q92853|Q9BW87	Nonsense_Mutation	SNP	ENST00000409587.1	37	c.43G>T	CCDS33027.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523396	0.85600	.	.	ENSG00000105223	ENST00000392032;ENST00000409419;ENST00000409587;ENST00000356508;ENST00000536031;ENST00000409735;ENST00000409281;ENST00000359274	.	.	.	4.39	4.39	0.52855	.	0.372251	0.28130	N	0.016490	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-13.6695	12.7892	0.57523	0.0:0.0:1.0:0.0	.	.	.	.	X	15	.	ENSP00000348901:E15X	E	+	1	0	PLD3	45564372	1.000000	0.71417	0.904000	0.35570	0.105000	0.19272	4.760000	0.62235	2.730000	0.93505	0.655000	0.94253	GAG		0.632	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		5	81	1	0	2.01e-06	2.32e-06	5	81				
KIR3DL1	3811	broad.mit.edu	37	19	55341406	55341406	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr19:55341406C>T	ENST00000391728.4	+	8	1162	c.1129C>T	c.(1129-1131)Cct>Tct	p.P377S	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.P282S|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P377S|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P360S|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P360S|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000402254.2_Intron	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	377					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGACCAAGAGCCTGCAGGGAA	0.532																																						uc002qhk.3		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1129-1131)CCT>TCT		killer cell immunoglobulin-like receptor, three							121.0	117.0	118.0					19																	55341406		1487	2610	4097	SO:0001583	missense	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55341406C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1129C>T	19.37:g.55341406C>T	ENSP00000375608:p.Pro377Ser					KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.P302S|KIR3DL1_uc010esf.2_Missense_Mutation_p.P282S|KIR3DL1_uc010yfo.1_Missense_Mutation_p.P319S|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank	p.P377S	NM_013289	NP_037421	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	8	1192	+			377			Cytoplasmic (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.1129C>T	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	5.190	0.220677	0.09863	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00527	6.9;7.09;6.9;7.09;6.79	0.569	0.569	0.17340	.	.	.	.	.	T	0.00608	0.0020	M	0.69463	2.115	0.09310	N	1	B;B;B	0.24533	0.105;0.006;0.039	B;B;B	0.29440	0.102;0.014;0.049	T	0.37596	-0.9699	8	0.87932	D	0	.	.	.	.	.	360;282;377	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	S	377;360;355;377;360;282	ENSP00000443350:P377S;ENSP00000442355:P360S;ENSP00000375608:P377S;ENSP00000326868:P360S;ENSP00000350901:P282S	ENSP00000326868:P360S	P	+	1	0	KIR3DL1	60033218	0.134000	0.22483	0.065000	0.19835	0.112000	0.19704	0.322000	0.19576	0.567000	0.29293	0.184000	0.17185	CCT		0.532	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		14	112	0	0	0	0	14	112				
GALNT13	114805	broad.mit.edu	37	2	155158099	155158099	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:155158099C>T	ENST00000392825.3	+	9	1720	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.P385S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	385					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CATCATATCCCCAGGTACACA	0.348																																						uc002tyr.3		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1153-1155)CCA>TCA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							122.0	125.0	124.0					2																	155158099		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155158099C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1153C>T	2.37:g.155158099C>T	ENSP00000376570:p.Pro385Ser					GALNT13_uc002tyt.3_Missense_Mutation_p.P385S|GALNT13_uc010foc.1_Missense_Mutation_p.P204S|GALNT13_uc010fod.2_Missense_Mutation_p.P138S	p.P385S	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			9	1720	+			385			Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.1153C>T	CCDS2199.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.2|29.2	4.988715|4.988715	0.93106|0.93106	.|.	.|.	ENSG00000144278|ENSG00000144278	ENST00000450838|ENST00000392825;ENST00000409237	.|T;T	.|0.70399	.|-0.48;-0.48	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.81039|0.81039	0.4740|0.4740	M|M	0.88979|0.88979	2.995|2.995	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.45986	.|0.666;0.707;0.866;0.87	.|B;B;P;B	.|0.46585	.|0.324;0.173;0.521;0.252	D|D	0.85052|0.85052	0.0929|0.0929	6|10	.|0.72032	.|D	.|0.01	.|.	18.6268|18.6268	0.91342|0.91342	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|385;385;385;385	.|Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.|.;.;.;GLT13_HUMAN	L|S	3|385	.|ENSP00000376570:P385S;ENSP00000387239:P385S	.|ENSP00000376570:P385S	P|P	+|+	2|1	0|0	GALNT13|GALNT13	154866345|154866345	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.729000|7.729000	0.84864|0.84864	2.715000|2.715000	0.92844|0.92844	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.348	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		6	99	0	0	0	0	6	99				
XIRP2	129446	broad.mit.edu	37	2	167760367	167760367	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:167760367G>C	ENST00000409728.1	+	2	464	c.375G>C	c.(373-375)aaG>aaC	p.K125N	XIRP2_ENST00000409043.1_Missense_Mutation_p.K125N|XIRP2_ENST00000409195.1_Missense_Mutation_p.K125N|XIRP2_ENST00000409756.2_Missense_Mutation_p.K125N|XIRP2_ENST00000295237.9_Missense_Mutation_p.K125N|XIRP2_ENST00000420519.1_Missense_Mutation_p.K125N	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGCTCCTAAGAGTGGAAACA	0.483																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(373-375)AAG>AAC		xin actin-binding repeat containing 2 isoform 1							111.0	114.0	113.0					2																	167760367		1976	4169	6145	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167760367G>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.375G>C	2.37:g.167760367G>C	ENSP00000386619:p.Lys125Asn					XIRP2_uc010fpn.2_Missense_Mutation_p.K125N|XIRP2_uc010fpo.2_Missense_Mutation_p.K125N|XIRP2_uc010fpp.2_Missense_Mutation_p.K125N	p.K125N	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			1	393	+			Error:Variant_position_missing_in_A4UGR9_after_alignment					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.375G>C	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150709	0.37923	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.78707	-1.19;-1.2;4.15;-1.19;-1.2;4.15	5.12	2.15	0.27550	.	.	.	.	.	T	0.60457	0.2270	.	.	.	0.09310	N	1	B;P	0.36535	0.403;0.557	B;B	0.36418	0.224;0.224	T	0.46219	-0.9207	8	0.21540	T	0.41	-1.4608	4.7371	0.12993	0.1872:0.1807:0.6321:0.0	.	125;125	A4UGR9-4;A4UGR9-6	.;.	N	125	ENSP00000386454:K125N;ENSP00000386619:K125N;ENSP00000386840:K125N;ENSP00000386724:K125N;ENSP00000415541:K125N;ENSP00000295237:K125N	ENSP00000295237:K125N	K	+	3	2	XIRP2	167468613	0.710000	0.27896	0.004000	0.12327	0.500000	0.33767	1.424000	0.34848	0.563000	0.29222	0.655000	0.94253	AAG		0.483	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		6	51	0	0	0	0	6	51				
TTN	7273	broad.mit.edu	37	2	179404673	179404673	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:179404673C>G	ENST00000591111.1	-	302	93420	c.93196G>C	c.(93196-93198)Gat>Cat	p.D31066H	TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D23834H|TTN-AS1_ENST00000415561.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D23767H|TTN_ENST00000460472.2_Missense_Mutation_p.D23642H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D32707H|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D30139H|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592836.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31066	Ig-like 139.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCTTTCATCAAGTTCATAA	0.373																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(90415-90417)GAT>CAT		titin isoform N2-A							95.0	87.0	90.0					2																	179404673		1881	4114	5995	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179404673C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93196G>C	2.37:g.179404673C>G	ENSP00000465570:p.Asp31066His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D23834H|TTN_uc010zfi.1_Missense_Mutation_p.D23767H|TTN_uc010zfj.1_Missense_Mutation_p.D23642H	p.D30139H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		301	90639	-			31066					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.90415G>C		.	.	.	.	.	.	.	.	.	.	C	16.54	3.151091	0.57151	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64438	-0.1;0.1;0.1;0.08	6.17	6.17	0.99709	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.79240	0.4412	M	0.81341	2.54	0.50171	D	0.999857	D;D;D;D	0.76494	0.995;0.998;0.999;0.998	P;D;D;P	0.66847	0.819;0.947;0.947;0.87	T	0.80856	-0.1195	9	0.87932	D	0	.	14.9567	0.71120	0.0:0.9326:0.0:0.0674	.	23642;23767;23834;31066	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	30139;23642;23834;23767;23639	ENSP00000343764:D30139H;ENSP00000434586:D23642H;ENSP00000340554:D23834H;ENSP00000352154:D23767H	ENSP00000340554:D23834H	D	-	1	0	TTN	179112919	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.902000	0.69869	2.941000	0.99782	0.655000	0.94253	GAT		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	70	0	0	0	0	4	70				
VIL1	7429	broad.mit.edu	37	2	219299377	219299377	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:219299377T>G	ENST00000248444.5	+	14	1717	c.1629T>G	c.(1627-1629)aaT>aaG	p.N543K	VIL1_ENST00000392114.2_Missense_Mutation_p.N232K	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	543	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAATTCCAATGATGTCTTTG	0.582																																						uc002via.2		NA																	0				ovary(1)	1						c.(1627-1629)AAT>AAG		villin 1							110.0	110.0	110.0					2																	219299377		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219299377T>G	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1629T>G	2.37:g.219299377T>G	ENSP00000248444:p.Asn543Lys					VIL1_uc010zke.1_Missense_Mutation_p.N232K|VIL1_uc002vib.2_Missense_Mutation_p.N543K	p.N543K	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	1694	+		Renal(207;0.0474)	543			Gelsolin-like 5.|Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.1629T>G	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.504920	0.64410	.	.	ENSG00000127831	ENST00000248444;ENST00000392114;ENST00000419986	T;T;T	0.56275	0.47;0.47;0.47	4.32	-2.58	0.06228	Gelsolin domain (1);	0.062764	0.64402	D	0.000012	T	0.67239	0.2872	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.65903	-0.6055	10	0.45353	T	0.12	-22.0185	11.5117	0.50496	0.0:0.4815:0.0:0.5185	.	543	P09327	VILI_HUMAN	K	543;232;112	ENSP00000248444:N543K;ENSP00000375962:N232K;ENSP00000394030:N112K	ENSP00000248444:N543K	N	+	3	2	VIL1	219007621	0.021000	0.18746	0.980000	0.43619	0.770000	0.43624	-0.958000	0.03857	-0.689000	0.05149	0.459000	0.35465	AAT		0.582	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		14	94	0	0	0	0	14	94				
GIGYF2	26058	broad.mit.edu	37	2	233671317	233671317	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:233671317A>T	ENST00000409547.1	+	17	2067	c.1756A>T	c.(1756-1758)Atg>Ttg	p.M586L	GIGYF2_ENST00000409196.3_Missense_Mutation_p.M580L|GIGYF2_ENST00000452341.2_Missense_Mutation_p.M417L|GIGYF2_ENST00000373563.4_Missense_Mutation_p.M586L|GIGYF2_ENST00000409480.1_Missense_Mutation_p.M608L|GIGYF2_ENST00000409451.3_Missense_Mutation_p.M607L|GIGYF2_ENST00000373566.3_Missense_Mutation_p.M608L	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	586					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TATCATGAAAATGTGGGGAAG	0.463																																						uc002vti.3		NA																	0				ovary(4)|central_nervous_system(3)	7						c.(1756-1758)ATG>TTG		GRB10 interacting GYF protein 2 isoform b							160.0	156.0	157.0					2																	233671317		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233671317A>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1756A>T	2.37:g.233671317A>T	ENSP00000386537:p.Met586Leu					GIGYF2_uc010zmj.1_Missense_Mutation_p.M586L|GIGYF2_uc002vtg.2_Missense_Mutation_p.M580L|GIGYF2_uc002vtj.3_Missense_Mutation_p.M607L|GIGYF2_uc002vtk.3_Missense_Mutation_p.M586L|GIGYF2_uc002vth.3_Missense_Mutation_p.M580L|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.M417L	p.M586L	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	17	2093	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	586					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.1756A>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.317354	0.60524	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.73469	-0.61;-0.6;-0.61;-0.6;-0.75;-0.61;-0.61;-0.75;-0.46	5.71	5.71	0.89125	GYF (3);	0.093088	0.64402	D	0.000001	T	0.64605	0.2613	N	0.03967	-0.31	0.45567	D	0.998516	P;B;B;P	0.49090	0.919;0.081;0.001;0.527	P;B;B;P	0.54856	0.622;0.095;0.005;0.762	T	0.65676	-0.6110	10	0.15952	T	0.53	-7.1399	15.9965	0.80250	1.0:0.0:0.0:0.0	.	417;607;586;580	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	L	608;529;586;608;586;586;529;580;607;580;417	ENSP00000362667:M608L;ENSP00000362664:M586L;ENSP00000386765:M608L;ENSP00000386537:M586L;ENSP00000404195:M529L;ENSP00000387070:M580L;ENSP00000387170:M607L;ENSP00000410297:M580L;ENSP00000411505:M417L	ENSP00000362664:M586L	M	+	1	0	GIGYF2	233379561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.298000	0.78815	2.174000	0.68829	0.460000	0.39030	ATG		0.463	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		10	106	0	0	0	0	10	106				
CSNK2A1	1457	broad.mit.edu	37	20	470519	470519	+	Missense_Mutation	SNP	C	C	T	rs375065792		TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr20:470519C>T	ENST00000217244.3	-	10	1003	c.628G>A	c.(628-630)Gat>Aat	p.D210N	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.D210N|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.D210N|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.D74N	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			AAACTATAATCGTACATCTGC	0.318																																						uc002wdw.1		NA																	0				ovary(1)	1						c.(628-630)GAT>AAT		casein kinase II alpha 1 subunit isoform a		C	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	82.0	71.0	75.0		628,628,220	5.0	1.0	20		75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CSNK2A1	NM_001895.3,NM_177559.2,NM_177560.2	23,23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	210/392,210/392,74/256	470519	1,13005	2203	4300	6503	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:470519C>T	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.628G>A	20.37:g.470519C>T	ENSP00000217244:p.Asp210Asn					CSNK2A1_uc002wdx.1_Missense_Mutation_p.D210N|CSNK2A1_uc002wdy.1_Missense_Mutation_p.D74N	p.D210N	NM_177559	NP_808227	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		10	1021	-		Breast(17;0.231)	210			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.628G>A	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	C	34	5.366657	0.95900	0.0	1.16E-4	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.45276	3.22;3.22;3.22;0.9	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.085586	0.85682	D	0.000000	T	0.56485	0.1988	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58901	-0.7554	10	0.87932	D	0	-3.4584	17.7447	0.88416	0.0:1.0:0.0:0.0	.	210	P68400	CSK21_HUMAN	N	210;210;210;210;74	ENSP00000383086:D210N;ENSP00000339247:D210N;ENSP00000217244:D210N;ENSP00000383076:D74N	ENSP00000217244:D210N	D	-	1	0	CSNK2A1	418519	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	7.567000	0.82357	2.741000	0.93983	0.585000	0.79938	GAT		0.318	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		3	47	0	0	0	0	3	47				
FAM65C	140876	broad.mit.edu	37	20	49204362	49204362	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr20:49204362G>T	ENST00000327979.2	-	21	3128	c.2717C>A	c.(2716-2718)gCc>gAc	p.A906D	FAM65C_ENST00000462842.1_5'UTR|FAM65C_ENST00000045083.2_Missense_Mutation_p.A906D|FAM65C_ENST00000535356.1_Missense_Mutation_p.A910D|MIR645_ENST00000385283.1_RNA			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	906										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTTTCCCGGGCTGCCGCCCG	0.592											OREG0026030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xvm.2		NA																	0				ovary(2)	2						c.(2716-2718)GCC>GAC		hypothetical protein LOC140876							42.0	45.0	44.0					20																	49204362		1927	4121	6048	SO:0001583	missense	140876							g.chr20:49204362G>T	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.2717C>A	20.37:g.49204362G>T	ENSP00000332663:p.Ala906Asp		OREG0026030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	960	FAM65C_uc010zyt.1_Missense_Mutation_p.A910D	p.A906D	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			21	3035	-			906					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.2717C>A	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223557	0.79576	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.79352	-1.26;-1.26;-1.26	5.67	5.67	0.87782	.	0.000000	0.64402	U	0.000003	D	0.89921	0.6855	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90829	0.4715	10	0.87932	D	0	-17.7522	19.7629	0.96329	0.0:0.0:1.0:0.0	.	910;906	F5H0X2;Q96MK2	.;FA65C_HUMAN	D	906;906;910	ENSP00000332663:A906D;ENSP00000045083:A906D;ENSP00000439802:A910D	ENSP00000045083:A906D	A	-	2	0	FAM65C	48637769	1.000000	0.71417	0.938000	0.37757	0.321000	0.28281	7.069000	0.76755	2.666000	0.90696	0.561000	0.74099	GCC		0.592	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			8	57	1	0	0.000157383	0.000173422	8	57				
CARD10	29775	broad.mit.edu	37	22	37914082	37914082	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr22:37914082T>A	ENST00000403299.1	-	3	485	c.269A>T	c.(268-270)aAg>aTg	p.K90M	CARD10_ENST00000251973.5_Missense_Mutation_p.K90M			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	90	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					ATAGCCCCTCTTGCCACGGCA	0.627																																						uc003asx.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6						c.(268-270)AAG>ATG		caspase recruitment domain protein 10							76.0	66.0	70.0					22																	37914082		2203	4300	6503	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37914082T>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.269A>T	22.37:g.37914082T>A	ENSP00000384570:p.Lys90Met					CARD10_uc003ast.1_RNA|CARD10_uc003asy.1_Missense_Mutation_p.K90M	p.K90M	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN			2	272	-	Melanoma(58;0.0574)		90			CARD.		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.269A>T	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909809	0.72983	.	.	ENSG00000100065	ENST00000403299;ENST00000251973	T;T	0.22336	1.96;1.96	4.8	3.75	0.43078	DEATH-like (2);Caspase Recruitment (2);	0.204899	0.42172	D	0.000757	T	0.37210	0.0995	L	0.55990	1.75	0.38953	D	0.958386	D	0.89917	1.0	D	0.72338	0.977	T	0.26538	-1.0100	10	0.72032	D	0.01	-42.8923	9.6582	0.39939	0.0:0.0848:0.0:0.9152	.	90	Q9BWT7	CAR10_HUMAN	M	90	ENSP00000384570:K90M;ENSP00000251973:K90M	ENSP00000251973:K90M	K	-	2	0	CARD10	36244028	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	5.581000	0.67471	1.903000	0.55091	0.460000	0.39030	AAG		0.627	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		6	49	0	0	0	0	6	49				
SLC2A9	56606	broad.mit.edu	37	4	9998412	9998412	+	Missense_Mutation	SNP	G	G	T	rs200013912		TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr4:9998412G>T	ENST00000264784.3	-	3	456	c.403C>A	c.(403-405)Ctt>Att	p.L135I	SLC2A9_ENST00000506583.1_Missense_Mutation_p.L106I|SLC2A9_ENST00000309065.3_Missense_Mutation_p.L106I	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	135					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	GACCTCCCAAGAACCTTTCCA	0.498													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20187	0.0		0.0	False		,,,				2504	0.0					uc003gmc.2		NA																	0				ovary(3)	3						c.(403-405)CTT>ATT		solute carrier family 2, member 9 protein							86.0	74.0	78.0					4																	9998412		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9998412G>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.403C>A	4.37:g.9998412G>T	ENSP00000264784:p.Leu135Ile					SLC2A9_uc003gmd.2_Missense_Mutation_p.L106I	p.L135I	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN			3	464	-			135			Cytoplasmic (Potential).		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.403C>A	CCDS3407.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	12.05	1.820714	0.32145	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;T;T;T	0.80994	-0.91;-0.91;-0.91;-1.44	5.14	4.3	0.51218	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.301718	0.31872	N	0.006932	T	0.76751	0.4031	M	0.61703	1.905	0.25889	N	0.983496	B;B	0.17852	0.02;0.024	B;B	0.26693	0.02;0.072	T	0.65022	-0.6269	9	.	.	.	.	10.0842	0.42408	0.0938:0.0:0.9062:0.0	.	106;135	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	I	106;135;106;106	ENSP00000422209:L106I;ENSP00000264784:L135I;ENSP00000311383:L106I;ENSP00000426800:L106I	.	L	-	1	0	SLC2A9	9607510	0.982000	0.34865	0.103000	0.21229	0.437000	0.31866	1.474000	0.35398	1.342000	0.45619	0.644000	0.83932	CTT		0.498	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			6	23	1	0	3.6e-05	4.04e-05	6	23				
CLOCK	9575	broad.mit.edu	37	4	56316289	56316289	+	Silent	SNP	T	T	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr4:56316289T>C	ENST00000309964.4	-	15	1567	c.1317A>G	c.(1315-1317)aaA>aaG	p.K439K	CLOCK_ENST00000513440.1_Silent_p.K439K|CLOCK_ENST00000381322.1_Silent_p.K439K	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	439	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TGTGAGATGATTTTCTTGAAC	0.433																																						uc003haz.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1315-1317)AAA>AAG		clock							128.0	129.0	128.0					4																	56316289		2203	4300	6503	SO:0001819	synonymous_variant	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56316289T>C	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.1317A>G	4.37:g.56316289T>C						CLOCK_uc003hba.1_Silent_p.K439K|CLOCK_uc010igu.1_5'Flank	p.K439K	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		17	2243	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		439					A0AV01|A2I2N9|O14516|Q9UIT8	Silent	SNP	ENST00000309964.4	37	c.1317A>G	CCDS3500.1																																																																																				0.433	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		5	46	0	0	0	0	5	46				
ETNPPL	64850	broad.mit.edu	37	4	109667916	109667916	+	Splice_Site	SNP	A	A	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr4:109667916A>C	ENST00000296486.3	-	10	1327		c.e10+1		ETNPPL_ENST00000510706.1_Splice_Site|ETNPPL_ENST00000411864.2_Splice_Site|ETNPPL_ENST00000512646.1_Splice_Site	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase							mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										GGGGTGAATTACTTGTAGATG	0.488																																						uc003hzc.2		NA																	0				ovary(1)	1						c.e10+1		alanine-glyoxylate aminotransferase 2-like 1							229.0	231.0	230.0					4																	109667916		2203	4300	6503	SO:0001630	splice_region_variant	64850				cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr4:109667916A>C	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1172+1T>G	4.37:g.109667916A>C						AGXT2L1_uc010imc.2_Splice_Site_p.K385_splice|AGXT2L1_uc011cfm.1_Splice_Site_p.K351_splice|AGXT2L1_uc011cfn.1_Splice_Site_p.K318_splice|AGXT2L1_uc011cfo.1_Splice_Site_p.K333_splice	p.K391_splice	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	10	1353	-								B7Z1Y0|E9PBY0|Q9H174	Splice_Site	SNP	ENST00000296486.3	37	c.1172_splice	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.830904	0.71258	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3671	0.60692	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AGXT2L1	109887365	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	6.912000	0.75753	1.943000	0.56356	0.528000	0.53228	.		0.488	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279	Intron	19	223	0	0	0	0	19	223				
C5orf22	55322	broad.mit.edu	37	5	31541084	31541084	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr5:31541084A>G	ENST00000325366.9	+	5	963	c.836A>G	c.(835-837)tAc>tGc	p.Y279C	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	279										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CAAGAGCTGTACCAATTTAAG	0.294																																						uc003jhj.3		NA																	0				ovary(2)	2						c.(835-837)TAC>TGC		hypothetical protein LOC55322							83.0	88.0	86.0					5																	31541084		2203	4300	6503	SO:0001583	missense	55322							g.chr5:31541084A>G	AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.836A>G	5.37:g.31541084A>G	ENSP00000326879:p.Tyr279Cys					C5orf22_uc011cnw.1_Intron|C5orf22_uc003jhk.3_Missense_Mutation_p.Y14C	p.Y279C	NM_018356	NP_060826	Q49AR2	CE022_HUMAN			5	963	+			279					Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	ENST00000325366.9	37	c.836A>G	CCDS3895.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.020297	0.54576	.	.	ENSG00000082213	ENST00000325366;ENST00000543911	T	0.51071	0.72	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73408	-0.3992	10	0.87932	D	0	-15.0553	15.8313	0.78752	1.0:0.0:0.0:0.0	.	279	Q49AR2	CE022_HUMAN	C	279;14	ENSP00000326879:Y279C	ENSP00000326879:Y279C	Y	+	2	0	C5orf22	31576841	1.000000	0.71417	0.696000	0.30242	0.206000	0.24218	8.439000	0.90308	2.139000	0.66308	0.482000	0.46254	TAC		0.294	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		7	66	0	0	0	0	7	66				
PCDHA7	56141	broad.mit.edu	37	5	140215046	140215046	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr5:140215046C>A	ENST00000525929.1	+	1	1078	c.1078C>A	c.(1078-1080)Cca>Aca	p.P360T	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P360T|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	360	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCCTATTCCAGAGGACGC	0.522																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	0				ovary(2)|skin(2)	4						c.(1078-1080)CCA>ACA		protocadherin alpha 7 isoform 1 precursor							166.0	150.0	155.0					5																	140215046		2203	4299	6502	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215046C>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1078C>A	5.37:g.140215046C>A	ENSP00000436426:p.Pro360Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.P360T	p.P360T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1078	+			360			Cadherin 4.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1078C>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	T	1.683	-0.506067	0.04231	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01665	4.7;4.7	4.04	-8.09	0.01090	Cadherin (3);Cadherin-like (1);	2.958550	0.03003	U	0.148442	T	0.02929	0.0087	L	0.58302	1.8	0.09310	N	1	B;B	0.31274	0.256;0.317	B;B	0.40602	0.242;0.334	T	0.39121	-0.9629	10	0.35671	T	0.21	.	5.5486	0.17078	0.4754:0.2946:0.0:0.23	.	360;360	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	T	360	ENSP00000436426:P360T;ENSP00000367365:P360T	ENSP00000367365:P360T	P	+	1	0	PCDHA7	140195230	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-2.774000	0.00777	-1.146000	0.02854	-0.979000	0.02580	CCA		0.522	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		11	96	1	0	2.81e-09	3.37e-09	11	96				
PCDHGA9	56107	broad.mit.edu	37	5	140784899	140784899	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr5:140784899T>C	ENST00000573521.1	+	1	2380	c.2380T>C	c.(2380-2382)Tct>Cct	p.S794P	PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	794					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGTGCGTCTCTGTTGATTC	0.423																																						uc003lkh.1		NA																	0					0						c.(2380-2382)TCT>CCT		protocadherin gamma subfamily A, 9 isoform 1							68.0	75.0	73.0					5																	140784899		2191	4297	6488	SO:0001583	missense	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140784899T>C	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.2380T>C	5.37:g.140784899T>C	ENSP00000460274:p.Ser794Pro					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.S794P|PCDHGB6_uc003lki.1_5'Flank|PCDHGB6_uc003lkj.1_5'Flank	p.S794P	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2380	+			794			Cytoplasmic (Potential).		A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.2380T>C	CCDS58981.1																																																																																				0.423	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		4	35	0	0	0	0	4	35				
CD2AP	23607	broad.mit.edu	37	6	47563699	47563699	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr6:47563699C>T	ENST00000359314.5	+	12	1667	c.1211C>T	c.(1210-1212)tCt>tTt	p.S404F		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	404	Pro-rich.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTACTGAGATCTTCTGGAACA	0.418																																						uc003oyw.2		NA																	0				ovary(1)|skin(1)	2						c.(1210-1212)TCT>TTT		CD2-associated protein							194.0	208.0	203.0					6																	47563699		2203	4300	6503	SO:0001583	missense	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47563699C>T	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1211C>T	6.37:g.47563699C>T	ENSP00000352264:p.Ser404Phe						p.S404F	NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		12	1667	+			404			Pro-rich.		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	c.1211C>T	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704671	0.48412	.	.	ENSG00000198087	ENST00000359314	T	0.27720	1.65	5.34	5.34	0.76211	.	0.828030	0.11105	N	0.599240	T	0.23171	0.0560	L	0.56769	1.78	0.21897	N	0.999483	B	0.31009	0.303	B	0.39617	0.305	T	0.21861	-1.0233	10	0.30854	T	0.27	-8.8548	14.5323	0.67934	0.0:1.0:0.0:0.0	.	404	Q9Y5K6	CD2AP_HUMAN	F	404	ENSP00000352264:S404F	ENSP00000352264:S404F	S	+	2	0	CD2AP	47671658	0.522000	0.26266	0.656000	0.29637	0.665000	0.39181	1.996000	0.40776	2.510000	0.84645	0.460000	0.39030	TCT		0.418	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			19	156	0	0	0	0	19	156				
AKAP12	9590	broad.mit.edu	37	6	151671792	151671792	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr6:151671792G>A	ENST00000253332.1	+	3	2455	c.2266G>A	c.(2266-2268)Gtt>Att	p.V756I	AKAP12_ENST00000359755.5_Missense_Mutation_p.V651I|AKAP12_ENST00000402676.2_Missense_Mutation_p.V756I|AKAP12_ENST00000354675.6_Missense_Mutation_p.V658I			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	756	AKAP 2.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGGGGAGGGCGTTTCCACCTG	0.537																																					Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NA																	0				large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(2266-2268)GTT>ATT		A kinase (PRKA) anchor protein 12 isoform 1							97.0	109.0	105.0					6																	151671792		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671792G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2266G>A	6.37:g.151671792G>A	ENSP00000253332:p.Val756Ile					AKAP12_uc003qoe.2_Missense_Mutation_p.V756I|AKAP12_uc003qof.2_Missense_Mutation_p.V658I|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.V651I	p.V756I	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2506	+		Ovarian(120;0.125)	756			AKAP 2.		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2266G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.197061	0.38806	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.63	5.63	0.86233	Protein kinase A anchoring, WSK motif (1);	0.000000	0.39615	N	0.001305	T	0.28433	0.0703	N	0.12182	0.205	0.28498	N	0.914158	D;D;D	0.69078	0.996;0.996;0.997	P;P;P	0.61328	0.753;0.753;0.887	T	0.15665	-1.0429	10	0.37606	T	0.19	.	13.3874	0.60803	0.0806:0.0:0.9194:0.0	.	651;658;756	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	I	756;756;658;651	ENSP00000384537:V756I;ENSP00000253332:V756I;ENSP00000346702:V658I;ENSP00000352794:V651I	ENSP00000253332:V756I	V	+	1	0	AKAP12	151713485	1.000000	0.71417	0.107000	0.21349	0.083000	0.17756	4.314000	0.59166	2.652000	0.90054	0.655000	0.94253	GTT		0.537	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			13	174	0	0	0	0	13	174				
DOCK4	9732	broad.mit.edu	37	7	111368576	111368576	+	Silent	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr7:111368576C>T	ENST00000437633.1	-	52	5911	c.5655G>A	c.(5653-5655)ccG>ccA	p.P1885P	DOCK4_ENST00000428084.1_Silent_p.P1894P|DOCK4_ENST00000494651.2_Silent_p.P768P	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1885	Pro-rich.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CGCCGTAGCTCGGCACGGGCA	0.662																																						uc003vfx.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(5653-5655)CCG>CCA		dedicator of cytokinesis 4							27.0	34.0	32.0					7																	111368576		2057	4177	6234	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111368576C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5655G>A	7.37:g.111368576C>T						DOCK4_uc011kml.1_Silent_p.P766P|DOCK4_uc011kmm.1_Silent_p.P754P|DOCK4_uc003vfw.2_Silent_p.P1297P|DOCK4_uc003vfy.2_Silent_p.P1930P|DOCK4_uc003vfv.2_Silent_p.P198P	p.P1885P	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			52	5924	-		Acute lymphoblastic leukemia(1;0.0441)	1885			Pro-rich.		O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.5655G>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.376683	0.01214	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	4.62	-9.24	0.00669	.	.	.	.	.	T	0.24928	0.0605	.	.	.	0.21967	N	0.999444	.	.	.	.	.	.	T	0.29058	-1.0024	4	.	.	.	.	8.387	0.32505	0.1182:0.6:0.1311:0.1507	.	.	.	.	Q	1308;1918	.	.	R	-	2	0	DOCK4	111155812	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.512000	0.02258	-1.462000	0.01907	-1.104000	0.02111	CGA		0.662	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		6	51	0	0	0	0	6	51				
CPA5	93979	broad.mit.edu	37	7	129986247	129986247	+	Splice_Site	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr7:129986247G>A	ENST00000485477.1	+	2	1050		c.e2-1		CPA5_ENST00000355388.3_Splice_Site|CPA5_ENST00000466363.2_Splice_Site|snoU13_ENST00000459205.1_RNA|CPA5_ENST00000431780.2_5'UTR|CPA5_ENST00000474905.1_5'UTR|CPA5_ENST00000393213.3_5'Flank|CPA5_ENST00000461828.1_5'UTR			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5							extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GGGCTTTCCAGCCTCTAGGTG	0.637																																						uc010lmd.1		NA																	0				ovary(2)	2						c.e4-1		carboxypeptidase A5 isoform 1																																				SO:0001630	splice_region_variant	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129986247G>A	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.-79-1G>A	7.37:g.129986247G>A						CPA5_uc003vps.2_5'UTR|CPA5_uc003vpt.2_5'UTR|CPA5_uc010lme.1_5'UTR|CPA5_uc003vpu.1_Splice_Site		NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN			4	542	+	Melanoma(18;0.0435)							G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Splice_Site	SNP	ENST00000485477.1	37	c.-78_splice	CCDS5819.1																																																																																				0.637	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441	Intron	4	28	0	0	0	0	4	28				
XRCC2	7516	broad.mit.edu	37	7	152346254	152346254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr7:152346254C>A	ENST00000359321.1	-	3	401	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	106					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TTGATTATTTCTTCAGAGCTT	0.378								Homologous recombination																														uc003wld.2		NA																	0				breast(1)|liver(1)	2						c.(316-318)GAA>TAA	Homologous_recombination	X-ray repair cross complementing protein 2							81.0	83.0	82.0					7																	152346254		2203	4300	6503	SO:0001587	stop_gained	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152346254C>A	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"""RAD51-like"""	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.316G>T	7.37:g.152346254C>A	ENSP00000352271:p.Glu106*						p.E106*	NM_005431	NP_005422	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	402	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	106					B2R925	Nonsense_Mutation	SNP	ENST00000359321.1	37	c.316G>T	CCDS5933.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911472	0.52439	.	.	ENSG00000196584	ENST00000359321	.	.	.	5.11	5.11	0.69529	.	0.363029	0.29522	N	0.011904	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-13.1414	17.5401	0.87845	0.0:1.0:0.0:0.0	.	.	.	.	X	106	.	ENSP00000352271:E106X	E	-	1	0	XRCC2	151977187	1.000000	0.71417	0.763000	0.31416	0.118000	0.20060	4.693000	0.61753	2.367000	0.80283	0.591000	0.81541	GAA		0.378	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		10	78	1	0	3.86e-05	4.31e-05	10	78				
EPHX2	2053	broad.mit.edu	37	8	27373874	27373874	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:27373874C>A	ENST00000521400.1	+	8	1299	c.869C>A	c.(868-870)gCt>gAt	p.A290D	EPHX2_ENST00000517536.1_Missense_Mutation_p.A107D|EPHX2_ENST00000521780.1_Missense_Mutation_p.A224D|EPHX2_ENST00000518379.1_Missense_Mutation_p.A258D|EPHX2_ENST00000380476.3_Missense_Mutation_p.A237D	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	290	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		CGGGTCCTAGCTATGGACATG	0.557											OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xfu.2		NA																	0				ovary(1)	1						c.(868-870)GCT>GAT		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						366.0	308.0	327.0					8																	27373874		2203	4300	6503	SO:0001583	missense	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27373874C>A	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.869C>A	8.37:g.27373874C>A	ENSP00000430269:p.Ala290Asp		OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	793	EPHX2_uc010lut.1_Missense_Mutation_p.A290D|EPHX2_uc010luu.2_Missense_Mutation_p.A258D|EPHX2_uc010luv.2_Missense_Mutation_p.A224D|EPHX2_uc003xfv.2_Missense_Mutation_p.A237D|EPHX2_uc010luw.2_Missense_Mutation_p.A224D|EPHX2_uc011lam.1_Missense_Mutation_p.A146D	p.A290D	NM_001979	NP_001970	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	8	950	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	290			Epoxide hydrolase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	c.869C>A	CCDS6060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.28|19.28	3.796323|3.796323	0.70567|0.70567	.|.	.|.	ENSG00000120915|ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379|ENST00000521684	T;T;T;T;T|.	0.64803|.	-0.12;-0.12;-0.12;-0.12;-0.12|.	5.67|5.67	4.79|4.79	0.61399|0.61399	Alpha/beta hydrolase fold-1 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87736|0.87736	0.6252|0.6252	H|H	0.98089|0.98089	4.145|4.145	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;0.993|.	D;D;D|.	0.85130|.	0.997;0.996;0.919|.	D|D	0.91124|0.91124	0.4932|0.4932	10|5	0.87932|.	D|.	0|.	-13.507|-13.507	12.9082|12.9082	0.58164|0.58164	0.0:0.9192:0.0:0.0808|0.0:0.9192:0.0:0.0808	.|.	258;290;290|.	E5RFU2;E7ETW9;P34913|.	.;.;HYES_HUMAN|.	D|I	290;107;224;237;294;258|249	ENSP00000430269:A290D;ENSP00000428875:A107D;ENSP00000430302:A224D;ENSP00000369843:A237D;ENSP00000427956:A258D|.	ENSP00000369843:A237D|.	A|L	+|+	2|1	0|2	EPHX2|EPHX2	27429791|27429791	0.997000|0.997000	0.39634|0.39634	0.179000|0.179000	0.23059|0.23059	0.677000|0.677000	0.39632|0.39632	4.027000|4.027000	0.57239|0.57239	2.677000|2.677000	0.91161|0.91161	0.561000|0.561000	0.74099|0.74099	GCT|CTA		0.557	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			21	193	1	0	1.97e-08	2.33e-08	21	193				
FUT10	84750	broad.mit.edu	37	8	33310867	33310867	+	Silent	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:33310867G>A	ENST00000327671.5	-	3	874	c.243C>T	c.(241-243)taC>taT	p.Y81Y	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Silent_p.Y53Y|FUT10_ENST00000524021.1_Silent_p.Y53Y|FUT10_ENST00000335589.3_Missense_Mutation_p.P7S	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	81					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GCATAATGGGGTAGCTGTCCA	0.478																																						uc003xje.2		NA																	0				ovary(1)|pancreas(1)	2						c.(241-243)TAC>TAT		fucosyltransferase 10							121.0	111.0	114.0					8																	33310867		2203	4300	6503	SO:0001819	synonymous_variant	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33310867G>A	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.243C>T	8.37:g.33310867G>A						FUT10_uc003xjc.2_Silent_p.Y88Y|FUT10_uc003xjd.2_Silent_p.Y53Y|FUT10_uc011lbi.1_Silent_p.Y131Y|FUT10_uc003xjf.2_Missense_Mutation_p.P7S|FUT10_uc003xjg.2_Silent_p.Y53Y|FUT10_uc003xjh.2_Silent_p.Y81Y|FUT10_uc003xji.1_Silent_p.Y81Y	p.Y81Y	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	3	599	-			81			Lumenal (Potential).		A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Silent	SNP	ENST00000327671.5	37	c.243C>T	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220992	0.39201	.	.	ENSG00000172728	ENST00000335589	T	0.37058	1.22	5.73	0.306	0.15806	.	.	.	.	.	T	0.26593	0.0650	.	.	.	0.19945	N	0.999941	B	0.06786	0.001	B	0.15052	0.012	T	0.25710	-1.0124	8	0.52906	T	0.07	5.0394	9.2486	0.37541	0.4996:0.0:0.5004:0.0	.	7	Q6P4F1-3	.	S	7	ENSP00000334997:P7S	ENSP00000334997:P7S	P	-	1	0	FUT10	33430409	0.999000	0.42202	0.086000	0.20670	0.136000	0.21042	0.542000	0.23222	0.093000	0.17368	-0.768000	0.03414	CCC		0.478	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		3	33	0	0	0	0	3	33				
ADAM2	2515	broad.mit.edu	37	8	39678606	39678606	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:39678606A>C	ENST00000265708.4	-	6	531	c.428T>G	c.(427-429)gTa>gGa	p.V143G	ADAM2_ENST00000347580.4_Missense_Mutation_p.V143G|ADAM2_ENST00000521880.1_Missense_Mutation_p.V143G|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Missense_Mutation_p.V143G	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	143					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTATGTTTTACTTGGTAAAT	0.328																																						uc003xnj.2		NA																	0				ovary(1)|lung(1)	2						c.(427-429)GTA>GGA		ADAM metallopeptidase domain 2 proprotein							72.0	72.0	72.0					8																	39678606		2203	4296	6499	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39678606A>C	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.428T>G	8.37:g.39678606A>C	ENSP00000265708:p.Val143Gly					ADAM2_uc003xnk.2_Missense_Mutation_p.V143G|ADAM2_uc011lck.1_Missense_Mutation_p.V143G|ADAM2_uc003xnl.2_Missense_Mutation_p.V143G	p.V143G	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	6	503	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	143					P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.428T>G	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.154997	0.57259	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02369	4.95;4.32;5.22;5.19	5.47	5.47	0.80525	.	.	.	.	.	T	0.05593	0.0147	N	0.08118	0	0.25132	N	0.990567	P;D;D;P	0.89917	0.928;1.0;0.98;0.928	P;D;P;P	0.77557	0.737;0.99;0.865;0.737	T	0.54563	-0.8275	8	.	.	.	.	13.5152	0.61537	1.0:0.0:0.0:0.0	.	143;143;143;143	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	G	143	ENSP00000343854:V143G;ENSP00000369182:V143G;ENSP00000265708:V143G;ENSP00000429352:V143G	.	V	-	2	0	ADAM2	39797763	0.372000	0.25064	0.058000	0.19502	0.004000	0.04260	4.482000	0.60257	2.076000	0.62316	0.533000	0.62120	GTA		0.328	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		8	42	0	0	0	0	8	42				
RGS20	8601	broad.mit.edu	37	8	54764582	54764582	+	Silent	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:54764582C>T	ENST00000297313.3	+	1	215	c.123C>T	c.(121-123)atC>atT	p.I41I	RGS20_ENST00000344277.6_Silent_p.I41I	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	41					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TTCACCAAATCACAGAAAATG	0.458																																						uc003xrp.2		NA																	0				ovary(1)	1						c.(121-123)ATC>ATT		regulator of G-protein signaling 20 isoform a							106.0	107.0	106.0					8																	54764582		2203	4300	6503	SO:0001819	synonymous_variant	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54764582C>T	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.123C>T	8.37:g.54764582C>T						RGS20_uc003xrq.2_Silent_p.I41I|RGS20_uc010lye.2_5'UTR|RGS20_uc010lyf.2_5'UTR	p.I41I	NM_170587	NP_733466	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		1	215	+			41					Q96BG9	Silent	SNP	ENST00000297313.3	37	c.123C>T	CCDS6155.1																																																																																				0.458	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			13	79	0	0	0	0	13	79				
SULF1	23213	broad.mit.edu	37	8	70488393	70488393	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:70488393C>T	ENST00000260128.4	+	6	1078	c.361C>T	c.(361-363)Cat>Tat	p.H121Y	SULF1_ENST00000402687.4_Missense_Mutation_p.H121Y|SULF1_ENST00000419716.3_Missense_Mutation_p.H121Y|SULF1_ENST00000458141.2_Missense_Mutation_p.H121Y	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	121					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCAGGCCATGCATGAGCCTCG	0.498																																						uc010lza.1		NA																	0				central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(361-363)CAT>TAT		sulfatase 1 precursor							141.0	123.0	129.0					8																	70488393		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70488393C>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.361C>T	8.37:g.70488393C>T	ENSP00000260128:p.His121Tyr					SULF1_uc003xyd.2_Missense_Mutation_p.H121Y|SULF1_uc003xye.2_Missense_Mutation_p.H121Y|SULF1_uc003xyf.2_Missense_Mutation_p.H121Y|SULF1_uc003xyg.2_Missense_Mutation_p.H121Y	p.H121Y	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		6	1078	+	Breast(64;0.0654)		121					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.361C>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103546	0.56291	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716;ENST00000525999	D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01	5.23	5.23	0.72850	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.62016	1.91	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	D	0.94974	0.8119	10	0.48119	T	0.1	.	18.7899	0.91969	0.0:1.0:0.0:0.0	.	121	Q8IWU6	SULF1_HUMAN	Y	121	ENSP00000403040:H121Y;ENSP00000260128:H121Y;ENSP00000385704:H121Y;ENSP00000390315:H121Y;ENSP00000431753:H121Y	ENSP00000260128:H121Y	H	+	1	0	SULF1	70650947	1.000000	0.71417	0.916000	0.36221	0.783000	0.44284	6.042000	0.70996	2.446000	0.82766	0.650000	0.86243	CAT		0.498	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		11	55	0	0	0	0	11	55				
ZFHX4	79776	broad.mit.edu	37	8	77765833	77765833	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:77765833A>G	ENST00000521891.2	+	10	7124	c.6676A>G	c.(6676-6678)Aaa>Gaa	p.K2226E	ZFHX4_ENST00000518282.1_Missense_Mutation_p.K2200E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K2181E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K2181E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCATTCAGTAAAAGGTCTTC	0.373										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(6541-6543)AAA>GAA		zinc finger homeodomain 4							79.0	75.0	76.0					8																	77765833		1882	4103	5985	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765833A>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6676A>G	8.37:g.77765833A>G	ENSP00000430497:p.Lys2226Glu	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.K2226E|ZFHX4_uc003yaw.1_Missense_Mutation_p.K2181E	p.K2181E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6928	+			2181			Homeobox 2.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.6541A>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	13.87	2.365324	0.41902	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	4.05	4.05	0.47172	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.47455	U	0.000239	D	0.88459	0.6442	L	0.46157	1.445	0.54753	D	0.99998	P;P;P	0.37330	0.455;0.59;0.59	B;B;B	0.35413	0.1;0.202;0.202	D	0.89193	0.3552	10	0.59425	D	0.04	.	13.4444	0.61131	1.0:0.0:0.0:0.0	.	2181;2181;2226	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	E	2226;2210;2181;2181;2200	ENSP00000430497:K2226E;ENSP00000399605:K2181E;ENSP00000050961:K2181E;ENSP00000430848:K2200E	ENSP00000050961:K2181E	K	+	1	0	ZFHX4	77928388	1.000000	0.71417	0.893000	0.35052	0.540000	0.34992	9.013000	0.93629	1.840000	0.53500	0.454000	0.30748	AAA		0.373	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		7	51	0	0	0	0	7	51				
RRM2B	50484	broad.mit.edu	37	8	103237159	103237159	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:103237159T>A	ENST00000251810.3	-	4	652	c.409A>T	c.(409-411)Atg>Ttg	p.M137L	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Missense_Mutation_p.M85L	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	137					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	AAACTGTACATCTCTGAGTGA	0.408								Modulation of nucleotide pools																														uc003ykn.2		NA																	0				ovary(2)	2						c.(409-411)ATG>TTG	Direct_reversal_of_damage|Modulation_of_nucleotide_pools	ribonucleotide reductase M2 B (TP53 inducible)							98.0	95.0	96.0					8																	103237159		2203	4300	6503	SO:0001583	missense	50484				deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr8:103237159T>A	AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.409A>T	8.37:g.103237159T>A	ENSP00000251810:p.Met137Leu					RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Missense_Mutation_p.M85L|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	p.M137L	NM_015713	NP_056528	Q7LG56	RIR2B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000728)		4	653	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		137					B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Missense_Mutation	SNP	ENST00000251810.3	37	c.409A>T	CCDS34932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.3|25.3	4.627130|4.627130	0.87560|0.87560	.|.	.|.	ENSG00000048392|ENSG00000048392	ENST00000522368|ENST00000251810;ENST00000535248;ENST00000395912	.|D;D	.|0.97328	.|-4.34;-4.34	5.68|5.68	4.5|4.5	0.54988|0.54988	.|Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	.|0.067258	.|0.85682	.|N	.|0.000000	D|D	0.97999|0.97999	0.9341|0.9341	H|H	0.97962|0.97962	4.115|4.115	0.80722|0.80722	D|D	1|1	.|P;P	.|0.42692	.|0.787;0.698	.|B;B	.|0.42386	.|0.386;0.282	D|D	0.97377|0.97377	0.9980|0.9980	5|10	.|0.66056	.|D	.|0.02	.|.	12.2596|12.2596	0.54642|0.54642	0.1274:0.0:0.0:0.8726|0.1274:0.0:0.0:0.8726	.|.	.|85;137	.|Q7LG56-2;Q7LG56	.|.;RIR2B_HUMAN	V|L	193|137;83;85	.|ENSP00000251810:M137L;ENSP00000379248:M85L	.|ENSP00000251810:M137L	D|M	-|-	2|1	0|0	RRM2B|RRM2B	103306335|103306335	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.949000|7.949000	0.87791|0.87791	1.036000|1.036000	0.39998|0.39998	0.482000|0.482000	0.46254|0.46254	GAT|ATG		0.408	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3			8	38	0	0	0	0	8	38				
TPD52L3	89882	broad.mit.edu	37	9	6328607	6328607	+	Silent	SNP	C	C	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr9:6328607C>G	ENST00000344545.5	+	1	259	c.12C>G	c.(10-12)gcC>gcG	p.A4A	TPD52L3_ENST00000314556.3_Silent_p.A4A|TPD52L3_ENST00000381428.1_Silent_p.A4A	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	4										large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		TGCCACATGCCAGGACAGAGA	0.468																																						uc003zjw.2		NA																	0					0						c.(10-12)GCC>GCG		protein kinase NYD-SP25 isoform 1							86.0	89.0	88.0					9																	6328607		2203	4300	6503	SO:0001819	synonymous_variant	89882						protein binding	g.chr9:6328607C>G	AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.12C>G	9.37:g.6328607C>G						TPD52L3_uc003zjv.2_Silent_p.A4A|TPD52L3_uc003zjx.1_Silent_p.A4A	p.A4A	NM_033516	NP_277051	Q96J77	TPD55_HUMAN		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)	1	233	+		Acute lymphoblastic leukemia(23;0.158)	4					Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Silent	SNP	ENST00000344545.5	37	c.12C>G	CCDS34986.1																																																																																				0.468	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516		60	94	0	0	0	0	60	94				
HSD17B3	3293	broad.mit.edu	37	9	98997827	98997827	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr9:98997827G>T	ENST00000375263.3	-	11	895	c.848C>A	c.(847-849)gCc>gAc	p.A283D	HSD17B3_ENST00000375262.2_Missense_Mutation_p.A233D|AL160269.1_ENST00000577254.1_RNA|HSD17B3_ENST00000464104.1_5'UTR	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	283					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				GAAGGCCCAGGCCGGGATCAG	0.527																																						uc004awa.1		NA																	0					0						c.(847-849)GCC>GAC		estradiol 17 beta-dehydrogenase 3	NADH(DB00157)						79.0	66.0	71.0					9																	98997827		2203	4300	6503	SO:0001583	missense	3293				androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr9:98997827G>T		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5212	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 2"""	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.848C>A	9.37:g.98997827G>T	ENSP00000364412:p.Ala283Asp					HSD17B3_uc010msc.1_Missense_Mutation_p.A233D	p.A283D	NM_000197	NP_000188	P37058	DHB3_HUMAN			11	896	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	283					Q5U0Q6	Missense_Mutation	SNP	ENST00000375263.3	37	c.848C>A	CCDS6716.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205100	0.39003	.	.	ENSG00000130948	ENST00000375263;ENST00000375262	D;D	0.85411	-1.95;-1.98	4.85	4.85	0.62838	.	0.652489	0.16586	N	0.207985	T	0.68751	0.3035	N	0.03608	-0.345	0.09310	N	1	B;B	0.30482	0.281;0.016	B;B	0.27608	0.081;0.003	T	0.61133	-0.7124	10	0.36615	T	0.2	-10.0164	13.6323	0.62202	0.0:0.0:1.0:0.0	.	233;283	Q5U0Q6;P37058	.;DHB3_HUMAN	D	283;233	ENSP00000364412:A283D;ENSP00000364411:A233D	ENSP00000364411:A233D	A	-	2	0	HSD17B3	98037648	0.125000	0.22332	0.007000	0.13788	0.252000	0.25951	2.832000	0.48152	2.677000	0.91161	0.591000	0.81541	GCC		0.527	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197		6	17	1	0	8.13e-05	9.01e-05	6	17				
GALNT12	79695	broad.mit.edu	37	9	101599413	101599413	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr9:101599413A>C	ENST00000375011.3	+	6	1195	c.1195A>C	c.(1195-1197)Aac>Cac	p.N399H		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	399					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CTACCATCGCAACCCCCGTGC	0.547																																						uc004ayz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1195-1197)AAC>CAC		N-acetylgalactosaminyltransferase 12							157.0	151.0	153.0					9																	101599413		2203	4300	6503	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101599413A>C	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1195A>C	9.37:g.101599413A>C	ENSP00000364150:p.Asn399His						p.N399H	NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN			6	1195	+		Acute lymphoblastic leukemia(62;0.0559)	399			Lumenal (Potential).		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.1195A>C	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.545015	0.86022	.	.	ENSG00000119514	ENST00000375011	T	0.68624	-0.34	5.73	5.73	0.89815	.	0.042369	0.85682	D	0.000000	T	0.72867	0.3514	M	0.66506	2.035	0.53005	D	0.999969	D	0.57257	0.979	P	0.52710	0.707	T	0.71748	-0.4499	10	0.30078	T	0.28	.	13.9745	0.64262	1.0:0.0:0.0:0.0	.	399	Q8IXK2	GLT12_HUMAN	H	399	ENSP00000364150:N399H	ENSP00000364150:N399H	N	+	1	0	GALNT12	100639234	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	9.108000	0.94275	2.198000	0.70561	0.533000	0.62120	AAC		0.547	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		7	114	0	0	0	0	7	114				
DMD	1756	broad.mit.edu	37	X	31947847	31947847	+	Silent	SNP	A	A	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chrX:31947847A>G	ENST00000357033.4	-	47	6984	c.6778T>C	c.(6778-6780)Ttg>Ctg	p.L2260L	DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Silent_p.L2256L|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2260					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGCAGGGGCAACTCTTCCACC	0.403																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(6778-6780)TTG>CTG		dystrophin Dp427m isoform							103.0	88.0	93.0					X																	31947847		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31947847A>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6778T>C	X.37:g.31947847A>G						DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Silent_p.L916L|DMD_uc004dcx.2_Silent_p.L919L|DMD_uc004dcz.2_Silent_p.L2137L|DMD_uc004dcy.1_Silent_p.L2256L|DMD_uc004ddb.1_Silent_p.L2252L|DMD_uc010ngn.1_Intron	p.L2260L	NM_004006	NP_003997	P11532	DMD_HUMAN			47	7022	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2260			Spectrin 16.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.6778T>C	CCDS14233.1																																																																																				0.403	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		11	29	0	0	0	0	11	29				
MAGEE1	57692	broad.mit.edu	37	X	75648934	75648934	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chrX:75648934C>T	ENST00000361470.2	+	1	889	c.611C>T	c.(610-612)cCt>cTt	p.P204L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	204	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGCCTACACCTGGTGAGGGA	0.687																																						uc004ecm.1		NA																	0				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(610-612)CCT>CTT		melanoma antigen family E, 1							24.0	20.0	21.0					X																	75648934		2197	4293	6490	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75648934C>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.611C>T	X.37:g.75648934C>T	ENSP00000354912:p.Pro204Leu						p.P204L	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	818	+			204			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.611C>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	3.245	-0.154579	0.06544	.	.	ENSG00000198934	ENST00000361470	T	0.08984	3.03	2.06	-0.765	0.11023	.	.	.	.	.	T	0.02455	0.0075	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46707	-0.9172	9	0.14656	T	0.56	.	2.9393	0.05825	0.2359:0.5127:0.0:0.2513	.	204	Q9HCI5	MAGE1_HUMAN	L	204	ENSP00000354912:P204L	ENSP00000354912:P204L	P	+	2	0	MAGEE1	75565338	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.217000	0.02979	-0.317000	0.08677	-0.371000	0.07208	CCT		0.687	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		4	13	0	0	0	0	4	13				
PABPC5	140886	broad.mit.edu	37	X	90691201	90691201	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chrX:90691201G>A	ENST00000312600.3	+	2	839	c.625G>A	c.(625-627)Gac>Aac	p.D209N	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Missense_Mutation_p.D45N	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	209	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CATTGGAGACGACATAGATGA	0.428																																						uc004efg.2		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(625-627)GAC>AAC		poly(A) binding protein, cytoplasmic 5							48.0	48.0	48.0					X																	90691201		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691201G>A	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.625G>A	X.37:g.90691201G>A	ENSP00000308012:p.Asp209Asn					PABPC5_uc004eff.1_Missense_Mutation_p.D45N	p.D209N	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			2	1065	+			209			RRM 3.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.625G>A	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470696	0.43942	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	D;D	0.95307	-3.67;-3.67	4.53	4.53	0.55603	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.049031	0.85682	D	0.000000	D	0.91250	0.7242	L	0.43923	1.385	0.58432	D	0.999999	B	0.09022	0.002	B	0.10450	0.005	D	0.87981	0.2743	10	0.41790	T	0.15	.	14.0714	0.64863	0.0:0.0:1.0:0.0	.	209	Q96DU9	PABP5_HUMAN	N	45;209;177	ENSP00000362197:D45N;ENSP00000308012:D209N	ENSP00000308012:D209N	D	+	1	0	PABPC5	90577857	1.000000	0.71417	0.971000	0.41717	0.891000	0.51852	6.209000	0.72171	2.495000	0.84180	0.600000	0.82982	GAC		0.428	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		5	21	0	0	0	0	5	21				
IGSF1	3547	broad.mit.edu	37	X	130409627	130409627	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chrX:130409627G>T	ENST00000361420.3	-	16	3088	c.3009C>A	c.(3007-3009)caC>caA	p.H1003Q	IGSF1_ENST00000370910.1_Missense_Mutation_p.H994Q|IGSF1_ENST00000370904.1_Missense_Mutation_p.H994Q|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Missense_Mutation_p.H1008Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1003	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.H1003Q(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTCCTTCTTTGTGCAGAATGT	0.527																																						uc004ewd.2		NA																	2	Substitution - Missense(2)		kidney(2)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(3007-3009)CAC>CAA		immunoglobulin superfamily, member 1 isoform 1							113.0	98.0	103.0					X																	130409627		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409627G>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3009C>A	X.37:g.130409627G>T	ENSP00000355010:p.His1003Gln					IGSF1_uc004ewe.3_Missense_Mutation_p.H997Q|IGSF1_uc004ewf.2_Missense_Mutation_p.H983Q	p.H1003Q	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			16	3247	-			1003			Extracellular (Potential).|Ig-like C2-type 10.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3009C>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901242	0.33535	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.32	2.45	0.29901	Immunoglobulin-like fold (1);	0.341686	0.22142	N	0.064031	T	0.22820	0.0551	L	0.60455	1.87	0.26862	N	0.967927	D;P;D	0.63880	0.993;0.563;0.987	D;B;D	0.75020	0.972;0.387;0.985	T	0.03957	-1.0989	10	0.38643	T	0.18	.	6.9963	0.24784	0.096:0.3263:0.5777:0.0	.	994;447;1003	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	Q	994;1003;994;1008	ENSP00000359947:H994Q;ENSP00000355010:H1003Q;ENSP00000359941:H994Q;ENSP00000359940:H1008Q	ENSP00000355010:H1003Q	H	-	3	2	IGSF1	130237308	1.000000	0.71417	0.997000	0.53966	0.554000	0.35429	0.669000	0.25142	0.242000	0.21303	0.600000	0.82982	CAC		0.527	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			10	47	1	0	9.31e-06	1.06e-05	10	47				
PSIP1	11168	broad.mit.edu	37	9	15486860	15486860	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr9:15486860delC	ENST00000380733.4	-	5	701	c.358delG	c.(358-360)gaafs	p.E120fs	PSIP1_ENST00000397519.2_Frame_Shift_Del_p.E120fs|PSIP1_ENST00000380715.1_Frame_Shift_Del_p.E120fs|PSIP1_ENST00000380716.4_Frame_Shift_Del_p.E120fs|PSIP1_ENST00000380738.4_Frame_Shift_Del_p.E120fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	120					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TCGGTATCTTCCTTTGAAACA	0.333																																						uc003zlv.3		NA																	0				breast(1)	1						c.(358-360)GAAfs		PC4 and SFRS1 interacting protein 1 isoform 2							156.0	141.0	146.0					9																	15486860		2203	4299	6502	SO:0001589	frameshift_variant	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15486860delC	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.358delG	9.37:g.15486860delC	ENSP00000370109:p.Glu120fs					PSIP1_uc003zlw.3_Frame_Shift_Del_p.E120fs|PSIP1_uc003zlz.3_Frame_Shift_Del_p.E120fs|PSIP1_uc003zma.3_Frame_Shift_Del_p.E120fs|PSIP1_uc003zly.2_Frame_Shift_Del_p.E120fs	p.E120fs	NM_033222	NP_150091	O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	5	688	-			120					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Frame_Shift_Del	DEL	ENST00000380733.4	37	c.358delG	CCDS6479.1																																																																																				0.333	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		19	125	NA	NA	NA	NA	19	125	---	---	---	---
