#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
PGD	5226	broad.mit.edu	37	1	10477152	10477152	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:10477152C>G	ENST00000270776.8	+	9	991	c.953C>G	c.(952-954)tCa>tGa	p.S318*	PGD_ENST00000498356.1_3'UTR|PGD_ENST00000538557.1_Nonsense_Mutation_p.S305*|PGD_ENST00000541529.1_Nonsense_Mutation_p.S296*	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	318					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	GATAAGAAATCATTCCTGGAG	0.517																																						uc001arc.2		NA																	0				ovary(1)	1						c.(952-954)TCA>TGA		phosphogluconate dehydrogenase							112.0	112.0	112.0					1																	10477152		2203	4300	6503	SO:0001587	stop_gained	5226				pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding	g.chr1:10477152C>G	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.953C>G	1.37:g.10477152C>G	ENSP00000270776:p.Ser318*					PGD_uc001ard.2_Nonsense_Mutation_p.S238*|PGD_uc010oak.1_Nonsense_Mutation_p.S296*|PGD_uc010oal.1_Nonsense_Mutation_p.S305*	p.S318*	NM_002631	NP_002622	P52209	6PGD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	9	1043	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	318					A8K2Y9|B4DQJ8|Q9BWD8	Nonsense_Mutation	SNP	ENST00000270776.8	37	c.953C>G	CCDS113.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117277	0.77323	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	.	.	.	4.8	4.8	0.61643	.	0.430939	0.23074	N	0.052232	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.0052	18.2416	0.89969	0.0:1.0:0.0:0.0	.	.	.	.	X	296;264;318;305	.	.	S	+	2	0	PGD	10399739	0.020000	0.18652	0.681000	0.30009	0.907000	0.53573	2.814000	0.48010	2.366000	0.80165	0.655000	0.94253	TCA		0.517	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	NM_002631		12	57	0	0	0	0	12	57				
GJA9	81025	broad.mit.edu	37	1	39340697	39340697	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:39340697A>C	ENST00000360786.3	-	1	1326	c.1074T>G	c.(1072-1074)ttT>ttG	p.F358L	RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Missense_Mutation_p.F358L|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000357771.3_Missense_Mutation_p.F358L|RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	358					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GTTCTTTTCCAAATATTTTAT	0.343																																						uc001cct.1		NA																	0					0						c.(1072-1074)TTT>TTG		gap junction protein, alpha 9, 59kDa							116.0	118.0	117.0					1																	39340697		2203	4300	6503	SO:0001583	missense	81025				cell communication	connexon complex|integral to membrane		g.chr1:39340697A>C	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1074T>G	1.37:g.39340697A>C	ENSP00000354020:p.Phe358Leu					RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	p.F358L	NM_030772	NP_110399	P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	1355	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	358			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000360786.3	37	c.1074T>G	CCDS432.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.250204	0.22880	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.97352	-4.35;-4.24;-4.24	4.28	4.28	0.50868	.	20.772100	0.00465	U	0.000104	D	0.92648	0.7664	N	0.14661	0.345	0.19300	N	0.999978	B	0.02656	0.0	B	0.04013	0.001	T	0.83196	-0.0081	10	0.11182	T	0.66	.	8.7162	0.34411	0.8301:0.0:0.0:0.1699	.	358	P57773	CXA9_HUMAN	L	358	ENSP00000406846:F358L;ENSP00000350415:F358L;ENSP00000354020:F358L	ENSP00000350415:F358L	F	-	3	2	GJA9	39113284	0.312000	0.24545	0.465000	0.27155	0.557000	0.35523	2.909000	0.48758	2.153000	0.67306	0.533000	0.62120	TTT		0.343	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		8	40	0	0	0	0	8	40				
PABPC4	8761	broad.mit.edu	37	1	40034595	40034595	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:40034595T>C	ENST00000372857.3	-	6	1547	c.755A>G	c.(754-756)aAt>aGt	p.N252S	PABPC4_ENST00000529216.1_5'UTR|SNORA55_ENST00000364587.1_RNA|PABPC4_ENST00000372862.3_Missense_Mutation_p.N252S|PABPC4_ENST00000372856.3_Missense_Mutation_p.N252S|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.N252S	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	252	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCTTTTCCATTCATCTCTTC	0.368																																						uc010oiv.1		NA																	0					0						c.(754-756)AAT>AGT		poly A binding protein, cytoplasmic 4 isoform 2							163.0	160.0	161.0					1																	40034595		2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40034595T>C	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.755A>G	1.37:g.40034595T>C	ENSP00000361948:p.Asn252Ser					PABPC4_uc001cdl.2_Missense_Mutation_p.N252S|PABPC4_uc001cdm.2_Missense_Mutation_p.N252S|SNORA55_uc001cdo.1_5'Flank	p.N252S	NM_003819	NP_003810	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		6	1653	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	252			RRM 3.		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.755A>G	CCDS438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	32|32	5.124897|5.124897	0.94429|0.94429	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000421687;ENST00000474378|ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	.|T;T;T;T	.|0.09163	.|3.01;3.01;3.01;3.01	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.086124	.|0.85682	.|D	.|0.000000	T|T	0.35307|0.35307	0.0927|0.0927	M|M	0.75615|0.75615	2.305|2.305	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;0.995;0.975	.|D;P;D	.|0.79108	.|0.992;0.887;0.961	T|T	0.04752|0.04752	-1.0929|-1.0929	5|10	.|0.87932	.|D	.|0	.|.	16.8222|16.8222	0.85835|0.85835	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|252;252;252	.|Q13310;Q13310-2;Q4VC03	.|PABP4_HUMAN;.;.	V|S	154;165|252	.|ENSP00000361953:N252S;ENSP00000361949:N252S;ENSP00000361948:N252S;ENSP00000361947:N252S	.|ENSP00000361947:N252S	M|N	-|-	1|2	0|0	PABPC4|PABPC4	39807182|39807182	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.040000|8.040000	0.89188|0.89188	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.368	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		19	85	0	0	0	0	19	85				
EPHX4	253152	broad.mit.edu	37	1	92495738	92495738	+	Silent	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:92495738C>T	ENST00000370383.4	+	1	200	c.102C>T	c.(100-102)atC>atT	p.I34I		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	34						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						GCGCCTCCATCCACCTGCTCA	0.697																																					GBM(140;473 1857 5172 22066 49719)	uc001don.2		NA																	0				central_nervous_system(1)	1						c.(100-102)ATC>ATT		abhydrolase domain containing 7							31.0	23.0	26.0					1																	92495738		2203	4299	6502	SO:0001819	synonymous_variant	253152					integral to membrane	hydrolase activity	g.chr1:92495738C>T	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.102C>T	1.37:g.92495738C>T							p.I34I	NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN			1	206	+			34			Helical; Signal-anchor for type II membrane protein; (Potential).		Q8NCC6	Silent	SNP	ENST00000370383.4	37	c.102C>T	CCDS736.1																																																																																				0.697	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		4	4	0	0	0	0	4	4				
NBPF10	100132406	broad.mit.edu	37	1	145368604	145368604	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:145368604T>G	ENST00000369339.3	+	17	2189	c.1936T>G	c.(1936-1938)Tac>Gac	p.Y646D	NBPF10_ENST00000342960.5_Missense_Mutation_p.Y3528D|NBPF10_ENST00000369338.1_Missense_Mutation_p.Y644D			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	823	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTTCGCCCTTTACGTGGACAA	0.443																																						uc001end.3		NA																	0					0						c.(10807-10809)TAC>GAC		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145368604T>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1936T>G	1.37:g.145368604T>G	ENSP00000358345:p.Tyr646Asp					NBPF9_uc010oye.1_Missense_Mutation_p.Y887D|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Missense_Mutation_p.Y456D|NBPF10_uc010oyk.1_Missense_Mutation_p.Y244D|NBPF10_uc010oyl.1_Missense_Mutation_p.Y244D	p.Y3603D	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	86	10842	+	all_hematologic(923;0.032)		3528					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.10807T>G		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.473285	0.00167	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.04194	3.68;3.68	0.732	0.732	0.18283	.	.	.	.	.	T	0.00384	0.0012	N	0.01751	-0.74	0.09310	N	1	.	.	.	.	.	.	T	0.44862	-0.9300	7	0.02654	T	1	.	3.802	0.08761	0.0:0.0:0.5741:0.4259	.	.	.	.	D	648;644;3528	ENSP00000358344:Y644D;ENSP00000345684:Y3528D	ENSP00000345684:Y3528D	Y	+	1	0	NBPF10	144079961	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.993000	0.03720	-0.116000	0.11893	-0.835000	0.03068	TAC		0.443	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		5	261	0	0	0	0	5	261				
MRPL9	65005	broad.mit.edu	37	1	151735515	151735515	+	Silent	SNP	C	C	T	rs148707904	byFrequency	TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:151735515C>T	ENST00000368830.3	-	2	345	c.261G>A	c.(259-261)aaG>aaA	p.K87K	MRPL9_ENST00000467306.1_5'UTR|OAZ3_ENST00000479764.1_5'Flank|OAZ3_ENST00000321531.5_5'UTR|OAZ3_ENST00000315067.8_5'UTR|RP11-98D18.2_ENST00000420382.1_RNA|RP11-98D18.3_ENST00000512280.1_RNA|MRPL9_ENST00000368829.3_Silent_p.K87K|OAZ3_ENST00000453029.2_5'Flank	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	87					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGGCCGATGCTTCGTGTCCT	0.647																																						uc001eyv.2		NA																	0				ovary(1)	1						c.(259-261)AAG>AAA		mitochondrial ribosomal protein L9 precursor							74.0	77.0	76.0					1																	151735515		2203	4300	6503	SO:0001819	synonymous_variant	65005				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:151735515C>T	AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"""Mitochondrial ribosomal proteins / large subunits"""	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.261G>A	1.37:g.151735515C>T						MRPL9_uc009wmz.2_RNA|MRPL9_uc010pdk.1_Silent_p.K87K|MRPL9_uc009wna.1_Silent_p.K87K	p.K87K	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	346	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		87					B2RD99|Q5SZR2|Q9BSW8	Silent	SNP	ENST00000368830.3	37	c.261G>A	CCDS1003.1																																																																																				0.647	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036653.2	NM_031420		40	57	0	0	0	0	40	57				
IGSF8	93185	broad.mit.edu	37	1	160061631	160061631	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:160061631C>A	ENST00000368086.1	-	6	2040	c.1824G>T	c.(1822-1824)aaG>aaT	p.K608N	IGSF8_ENST00000460351.1_5'Flank|IGSF8_ENST00000314485.7_Missense_Mutation_p.K608N			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	608					cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TTCGAAGCCTCTTCATGAAGC	0.557																																						uc001fva.2		NA																	0					0						c.(1822-1824)AAG>AAT		immunoglobulin superfamily, member 8							146.0	128.0	134.0					1																	160061631		2203	4300	6503	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160061631C>A	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1824G>T	1.37:g.160061631C>A	ENSP00000357065:p.Lys608Asn					IGSF8_uc001fuz.2_Missense_Mutation_p.K608N|IGSF8_uc009wtf.2_Missense_Mutation_p.K608N	p.K608N	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		6	1869	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		608			Cytoplasmic (Potential).		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.1824G>T	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.703335	0.30232	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475	T;T	0.07567	3.18;3.18	3.42	2.5	0.30297	.	0.146330	0.42964	U	0.000627	T	0.08223	0.0205	L	0.27053	0.805	0.42195	D	0.991741	D	0.89917	1.0	D	0.85130	0.997	T	0.10291	-1.0636	10	0.87932	D	0	-11.6437	9.5168	0.39111	0.0:0.8901:0.0:0.1099	.	608	Q969P0	IGSF8_HUMAN	N	608;608;521	ENSP00000316664:K608N;ENSP00000357065:K608N	ENSP00000316664:K608N	K	-	3	2	IGSF8	158328255	1.000000	0.71417	0.978000	0.43139	0.030000	0.12068	1.433000	0.34947	0.749000	0.32854	0.407000	0.27541	AAG		0.557	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		3	56	1	0	0.00909568	0.00945098	3	56				
ZNF670	93474	broad.mit.edu	37	1	247201259	247201259	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:247201259C>G	ENST00000366503.2	-	4	820	c.662G>C	c.(661-663)gGa>gCa	p.G221A		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GGGTTTCTCTCCAGTATGAGT	0.358																																						uc001icd.1		NA																	0				ovary(1)	1						c.(661-663)GGA>GCA		zinc finger protein 670							66.0	69.0	68.0					1																	247201259		2203	4300	6503	SO:0001583	missense	93474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247201259C>G		CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.662G>C	1.37:g.247201259C>G	ENSP00000355459:p.Gly221Ala					ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	p.G221A	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		4	833	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	221						Missense_Mutation	SNP	ENST00000366503.2	37	c.662G>C	CCDS31087.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566563	0.65651	.	.	ENSG00000135747	ENST00000366503	T	0.26373	1.74	0.631	0.631	0.17699	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38585	0.1046	L	0.58669	1.825	0.29677	N	0.842004	D	0.61080	0.989	P	0.61940	0.896	T	0.28996	-1.0026	9	0.87932	D	0	.	7.0543	0.25091	0.0:0.9999:0.0:1.0E-4	.	221	Q9BS34	ZN670_HUMAN	A	221	ENSP00000355459:G221A	ENSP00000355459:G221A	G	-	2	0	ZNF670	245267882	0.031000	0.19500	0.346000	0.25655	0.493000	0.33554	1.361000	0.34136	0.598000	0.29829	0.460000	0.39030	GGA		0.358	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213		7	20	0	0	0	0	7	20				
DLG5	9231	broad.mit.edu	37	10	79555860	79555860	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr10:79555860C>T	ENST00000372391.2	-	29	5400	c.5395G>A	c.(5395-5397)Gat>Aat	p.D1799N	RP13-39P12.3_ENST00000434097.2_RNA|DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.D1459N	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1799	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GTGGTCACATCGAAATGGCCG	0.517																																						uc001jzk.2		NA																	0				ovary(5)|breast(3)	8						c.(5395-5397)GAT>AAT		discs large homolog 5							154.0	141.0	145.0					10																	79555860		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79555860C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5395G>A	10.37:g.79555860C>T	ENSP00000361467:p.Asp1799Asn					DLG5_uc001jzi.2_Missense_Mutation_p.D554N|DLG5_uc001jzj.2_Missense_Mutation_p.D1214N|DLG5_uc009xru.1_RNA	p.D1799N	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		29	5465	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1799			Guanylate kinase-like.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.5395G>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	36	5.693941	0.96793	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.41065	1.01;1.01;1.01	5.75	5.75	0.90469	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.40818	N	0.001018	T	0.51584	0.1683	N	0.25144	0.715	0.58432	D	0.999992	D;D	0.60160	0.987;0.964	D;P	0.64042	0.921;0.654	T	0.50717	-0.8795	10	0.49607	T	0.09	.	20.0154	0.97476	0.0:1.0:0.0:0.0	.	1799;1459	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	N	1799;760;1459	ENSP00000361467:D1799N;ENSP00000394797:D760N;ENSP00000361464:D1459N	ENSP00000361464:D1459N	D	-	1	0	DLG5	79225866	1.000000	0.71417	0.934000	0.37439	0.989000	0.77384	7.484000	0.81180	2.740000	0.93945	0.644000	0.83932	GAT		0.517	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			19	52	0	0	0	0	19	52				
MYOF	26509	broad.mit.edu	37	10	95191243	95191243	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr10:95191243C>A	ENST00000359263.4	-	4	266	c.267G>T	c.(265-267)aaG>aaT	p.K89N	MYOF_ENST00000371489.1_Missense_Mutation_p.K89N|MYOF_ENST00000371488.3_Missense_Mutation_p.K89N|MYOF_ENST00000371502.4_Missense_Mutation_p.K89N|MYOF_ENST00000358334.5_Missense_Mutation_p.K89N|MYOF_ENST00000371501.4_Missense_Mutation_p.K89N	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	89					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGTCAGGTCCTTCAGGGCTA	0.498																																						uc001kin.2		NA																	0				ovary(3)|breast(1)	4						c.(265-267)AAG>AAT		myoferlin isoform a							83.0	79.0	80.0					10																	95191243		1963	4170	6133	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95191243C>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.267G>T	10.37:g.95191243C>A	ENSP00000352208:p.Lys89Asn					MYOF_uc001kio.2_Missense_Mutation_p.K89N|MYOF_uc001kip.3_Missense_Mutation_p.K89N|MYOF_uc009xuf.2_Missense_Mutation_p.K71N	p.K89N	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			4	390	-			89			Cytoplasmic (Potential).		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.267G>T	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282662	0.59867	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489;ENST00000371488	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	5.62	2.78	0.32641	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.156944	0.56097	D	0.000026	T	0.57621	0.2066	M	0.69823	2.125	0.49798	D	0.99982	D;P;D	0.67145	0.996;0.617;0.989	D;P;P	0.66196	0.942;0.654;0.803	T	0.56733	-0.7930	10	0.59425	D	0.04	-20.9214	9.7025	0.40196	0.0:0.7791:0.0:0.2209	.	71;89;89	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	N	89	ENSP00000351094:K89N;ENSP00000352208:K89N;ENSP00000360556:K89N;ENSP00000360557:K89N;ENSP00000360544:K89N;ENSP00000360543:K89N	ENSP00000351094:K89N	K	-	3	2	MYOF	95181233	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	0.958000	0.29227	0.410000	0.25675	0.557000	0.71058	AAG		0.498	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		11	27	1	0	0.000673444	0.000710858	11	27				
MUC2	4583	broad.mit.edu	37	11	1098725	1098725	+	Silent	SNP	G	G	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:1098725G>C	ENST00000441003.2	+	37	7122	c.7095G>C	c.(7093-7095)tcG>tcC	p.S2365S	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4727					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGCCGGGCTCGAGCCTGGAGT	0.647																																						uc001lsx.1		NA																	0				lung(1)|breast(1)	2						c.(14179-14181)TCG>TCC		mucin 2 precursor	Pranlukast(DB01411)																																			SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1098725G>C	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7095G>C	11.37:g.1098725G>C							p.S4727S	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	40	14208	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4727					Q14878	Silent	SNP	ENST00000441003.2	37	c.14181G>C																																																																																					0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		2	5	0	0	0	0	2	5				
ZNF195	7748	broad.mit.edu	37	11	3380843	3380843	+	Silent	SNP	G	G	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:3380843G>T	ENST00000399602.4	-	6	1521	c.1395C>A	c.(1393-1395)ccC>ccA	p.P465P	ZNF195_ENST00000429541.2_Silent_p.P397P|ZNF195_ENST00000005082.9_Silent_p.P442P|ZNF195_ENST00000343338.7_Silent_p.P397P|ZNF195_ENST00000526601.1_Silent_p.P446P|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000354599.6_Silent_p.P393P	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CACATTGGTAGGGTTTCTCTC	0.443																																						uc001lxt.2		NA																	0					0						c.(1393-1395)CCC>CCA		zinc finger protein 195 isoform 1							98.0	105.0	103.0					11																	3380843		2134	4266	6400	SO:0001819	synonymous_variant	7748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380843G>T		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1395C>A	11.37:g.3380843G>T						uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Silent_p.P442P|ZNF195_uc001lxs.2_Silent_p.P393P|ZNF195_uc010qxr.1_Silent_p.P446P|ZNF195_uc009ydz.2_Silent_p.P420P|ZNF195_uc001lxu.2_Silent_p.P397P	p.P465P	NM_001130520	NP_001123992	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	6	1573	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	465					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.1395C>A	CCDS44522.1																																																																																				0.443	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			17	55	1	0	7.08e-05	7.71e-05	17	55				
TMEM179B	374395	broad.mit.edu	37	11	62556844	62556844	+	Missense_Mutation	SNP	G	G	A	rs146539259		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:62556844G>A	ENST00000333449.4	+	3	370	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	NXF1_ENST00000533048.1_5'Flank|RP11-727F15.12_ENST00000601484.1_RNA|TMEM179B_ENST00000533861.1_Missense_Mutation_p.R122Q|TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	122						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						TGTATCCTTCGATTTGGCACC	0.537																																						uc001nvd.3		NA																	0					0						c.(364-366)CGA>CAA		transmembrane protein 179B		G	GLN/ARG	5,4397	9.9+/-24.2	0,5,2196	108.0	84.0	92.0		365	3.1	1.0	11	dbSNP_134	92	0,8598		0,0,4299	no	missense	TMEM179B	NM_199337.2	43	0,5,6495	AA,AG,GG		0.0,0.1136,0.0385	possibly-damaging	122/220	62556844	5,12995	2201	4299	6500	SO:0001583	missense	374395					integral to membrane		g.chr11:62556844G>A	BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475			33744	protein-coding gene	gene with protein product							Standard	NM_199337		Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.365G>A	11.37:g.62556844G>A	ENSP00000333697:p.Arg122Gln						p.R122Q	NM_199337	NP_955369	Q7Z7N9	T179B_HUMAN			3	395	+			122						Missense_Mutation	SNP	ENST00000333449.4	37	c.365G>A	CCDS8036.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129658	0.56721	0.001136	0.0	ENSG00000185475	ENST00000533861;ENST00000333449	.	.	.	5.92	3.06	0.35304	.	0.302734	0.32430	N	0.006110	T	0.31482	0.0798	L	0.48362	1.52	0.34488	D	0.704689	P	0.36974	0.576	B	0.23716	0.048	T	0.43458	-0.9390	9	0.40728	T	0.16	.	6.9776	0.24686	0.2687:0.0:0.7313:0.0	.	122	Q7Z7N9	T179B_HUMAN	Q	122	.	ENSP00000333697:R122Q	R	+	2	0	TMEM179B	62313420	0.933000	0.31639	0.987000	0.45799	0.997000	0.91878	1.683000	0.37638	0.850000	0.35239	0.561000	0.74099	CGA		0.537	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2	NM_199337		5	29	0	0	0	0	5	29				
LTBP3	4054	broad.mit.edu	37	11	65315474	65315474	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:65315474C>T	ENST00000301873.5	-	12	2031	c.1763G>A	c.(1762-1764)gGa>gAa	p.G588E	LTBP3_ENST00000532932.1_Missense_Mutation_p.G18E|LTBP3_ENST00000536982.1_Missense_Mutation_p.G214E|LTBP3_ENST00000529189.1_5'Flank|LTBP3_ENST00000322147.4_Missense_Mutation_p.G588E	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	588	Cys-rich.|EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CACGCACTCTCCGTGGCCACA	0.657																																						uc001oej.2		NA																	0				central_nervous_system(2)|lung(1)	3						c.(1762-1764)GGA>GAA		latent transforming growth factor beta binding							54.0	52.0	53.0					11																	65315474		2201	4297	6498	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65315474C>T	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1763G>A	11.37:g.65315474C>T	ENSP00000301873:p.Gly588Glu					LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Missense_Mutation_p.G18E|LTBP3_uc010roi.1_Missense_Mutation_p.G471E|LTBP3_uc001oei.2_Missense_Mutation_p.G588E|LTBP3_uc010roj.1_Missense_Mutation_p.G289E|LTBP3_uc010rok.1_Missense_Mutation_p.G499E	p.G588E	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN			12	2032	-			588			Cys-rich.|EGF-like 3.		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.1763G>A	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736183	0.69189	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866	D;D;D;D;D	0.83673	-1.68;-1.75;-1.54;-1.58;-1.65	4.7	4.7	0.59300	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.058742	0.64402	D	0.000002	D	0.92071	0.7487	M	0.88105	2.93	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.997;0.999;0.996;0.997;0.999;1.0	P;D;P;P;D;D	0.97110	0.902;0.981;0.874;0.902;0.978;1.0	D	0.93549	0.6885	10	0.72032	D	0.01	.	15.11	0.72349	0.0:1.0:0.0:0.0	.	499;214;471;588;588;18	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2	.;.;.;LTBP3_HUMAN;.;.	E	588;588;18;214;499	ENSP00000326647:G588E;ENSP00000301873:G588E;ENSP00000435530:G18E;ENSP00000441912:G214E;ENSP00000435276:G499E	ENSP00000301873:G588E	G	-	2	0	LTBP3	65072050	1.000000	0.71417	0.997000	0.53966	0.087000	0.18053	7.178000	0.77657	2.165000	0.68154	0.205000	0.17691	GGA		0.657	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		13	49	0	0	0	0	13	49				
GDPD4	220032	broad.mit.edu	37	11	76969569	76969569	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:76969569G>A	ENST00000376217.2	-	10	976	c.726C>T	c.(724-726)ttC>ttT	p.F242F	GDPD4_ENST00000315938.4_Silent_p.F242F			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	242	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CATGCATGAGGAAAGGCACAT	0.478																																						uc001oyf.2		NA																	0				skin(1)	1						c.(724-726)TTC>TTT		glycerophosphodiester phosphodiesterase domain							148.0	143.0	145.0					11																	76969569		2200	4292	6492	SO:0001819	synonymous_variant	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76969569G>A	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.726C>T	11.37:g.76969569G>A							p.F242F	NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN			10	977	-			242			GDPD.|Extracellular (Potential).		Q7Z5B0	Silent	SNP	ENST00000376217.2	37	c.726C>T																																																																																					0.478	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		30	109	0	0	0	0	30	109				
DLG2	1740	broad.mit.edu	37	11	83770508	83770508	+	Missense_Mutation	SNP	G	G	A	rs202179915		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:83770508G>A	ENST00000532653.1	-	6	756	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000398301.2_Missense_Mutation_p.R191W|DLG2_ENST00000531015.1_Missense_Mutation_p.R119W|DLG2_ENST00000398309.2_Missense_Mutation_p.R152W|DLG2_ENST00000280241.8_Missense_Mutation_p.R191W|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000543673.1_Missense_Mutation_p.R257W|DLG2_ENST00000524982.1_Missense_Mutation_p.R152W|DLG2_ENST00000330014.6_Missense_Mutation_p.R91W|DLG2_ENST00000418306.2_Missense_Mutation_p.R101W|DLG2_ENST00000376104.2_Missense_Mutation_p.R257W			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCATTCACCCGCAAGATACAA	0.443																																						uc001paj.2		NA																	0				ovary(3)|pancreas(2)|skin(1)	6						c.(454-456)CGG>TGG		chapsyn-110 isoform 2							64.0	57.0	59.0					11																	83770508		1887	4137	6024	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83770508G>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.454C>T	11.37:g.83770508G>A	ENSP00000435849:p.Arg152Trp					DLG2_uc001pai.2_Missense_Mutation_p.R101W|DLG2_uc010rsy.1_Missense_Mutation_p.R119W|DLG2_uc010rsz.1_Missense_Mutation_p.R152W|DLG2_uc010rta.1_Missense_Mutation_p.R152W|DLG2_uc001pak.2_Missense_Mutation_p.R257W|DLG2_uc010rtb.1_Missense_Mutation_p.R119W|DLG2_uc001pal.1_Missense_Mutation_p.R152W|DLG2_uc001pam.1_Missense_Mutation_p.R191W	p.R152W	NM_001364	NP_001355	Q15700	DLG2_HUMAN			6	757	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	152			PDZ 1.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.454C>T		.	.	.	.	.	.	.	.	.	.	G	25.6	4.659455	0.88154	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.17	4.2	0.49525	PDZ/DHR/GLGF (4);	0.095438	0.43416	D	0.000561	T	0.51126	0.1656	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.986;0.959;0.991;0.992;0.999;0.994;1.0	T	0.48456	-0.9034	9	.	.	.	.	14.4439	0.67338	0.0:0.0:0.852:0.148	.	119;152;152;91;191;257;152;101	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	W	152;257;101;257;191;91;152;152;257;119;191;69	ENSP00000381355:R152W;ENSP00000365272:R257W;ENSP00000402275:R101W;ENSP00000441994:R257W;ENSP00000280241:R191W;ENSP00000381353:R91W;ENSP00000432894:R152W;ENSP00000435849:R152W;ENSP00000433848:R119W;ENSP00000381346:R191W;ENSP00000381344:R69W	.	R	-	1	2	DLG2	83448156	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.496000	0.60360	2.420000	0.82092	0.460000	0.39030	CGG		0.443	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		3	22	0	0	0	0	3	22				
EXPH5	23086	broad.mit.edu	37	11	108385200	108385200	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:108385200G>A	ENST00000265843.4	-	6	1144	c.1034C>T	c.(1033-1035)cCa>cTa	p.P345L	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.P269L|EXPH5_ENST00000443411.1_Missense_Mutation_p.P157L|EXPH5_ENST00000525344.1_Missense_Mutation_p.P338L	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	345					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGTTGTGGCTGGAAAATGTAA	0.468																																						uc001pkk.2		NA																	0				skin(3)|ovary(2)	5						c.(1033-1035)CCA>CTA		exophilin 5 isoform a							84.0	76.0	79.0					11																	108385200		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108385200G>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1034C>T	11.37:g.108385200G>A	ENSP00000265843:p.Pro345Leu					EXPH5_uc010rvy.1_Missense_Mutation_p.P157L|EXPH5_uc010rvz.1_Missense_Mutation_p.P189L|EXPH5_uc010rwa.1_Missense_Mutation_p.P269L	p.P345L	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	1145	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	345					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.1034C>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791823	0.70452	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.24723	2.37;2.27;2.14;2.37;2.07;1.84	5.44	4.53	0.55603	.	0.107085	0.42294	N	0.000739	T	0.47637	0.1456	M	0.71581	2.175	0.45648	D	0.998574	D	0.89917	1.0	D	0.97110	1.0	T	0.48222	-0.9054	10	0.72032	D	0.01	-5.8877	10.2334	0.43268	0.1537:0.0:0.8463:0.0	.	345	Q8NEV8	EXPH5_HUMAN	L	345;269;157;338;189;269;157	ENSP00000265843:P345L;ENSP00000391966:P269L;ENSP00000411390:P157L;ENSP00000432546:P338L;ENSP00000432683:P269L;ENSP00000446434:P157L	ENSP00000265843:P345L	P	-	2	0	EXPH5	107890410	0.998000	0.40836	1.000000	0.80357	0.924000	0.55760	3.000000	0.49481	1.296000	0.44742	0.491000	0.48974	CCA		0.468	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		4	85	0	0	0	0	4	85				
DSCAML1	57453	broad.mit.edu	37	11	117335712	117335712	+	Missense_Mutation	SNP	G	G	A	rs563772293		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:117335712G>A	ENST00000321322.6	-	17	3392	c.3391C>T	c.(3391-3393)Cgg>Tgg	p.R1131W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R861W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1071	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGCCAGCCCGATTGAAGGCT	0.617																																						uc001prh.1		NA																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3391-3393)CGG>TGG		Down syndrome cell adhesion molecule like 1							105.0	86.0	92.0					11																	117335712		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117335712G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3391C>T	11.37:g.117335712G>A	ENSP00000315465:p.Arg1131Trp						p.R1131W	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	17	3393	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1071			Extracellular (Potential).|Fibronectin type-III 2.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3391C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679154	0.68042	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.58060	0.36;0.36	4.78	0.575	0.17374	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69788	0.3150	M	0.74389	2.26	0.58432	D	0.999993	D	0.89917	1.0	D	0.81914	0.995	T	0.72600	-0.4244	9	0.87932	D	0	.	14.4459	0.67349	0.0:0.0:0.4953:0.5047	.	1071	Q8TD84	DSCL1_HUMAN	W	861;1131;838	ENSP00000434335:R861W;ENSP00000315465:R1131W	ENSP00000315465:R1131W	R	-	1	2	DSCAML1	116840922	1.000000	0.71417	0.889000	0.34880	0.993000	0.82548	2.448000	0.44926	-0.047000	0.13423	-0.314000	0.08810	CGG		0.617	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		18	62	0	0	0	0	18	62				
ABCG4	64137	broad.mit.edu	37	11	119029006	119029006	+	Silent	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:119029006C>G	ENST00000449422.2	+	10	1319	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	AP002956.1_ENST00000599663.1_5'Flank|ABCG4_ENST00000531739.1_Silent_p.L377L|ABCG4_ENST00000307417.3_Silent_p.L377L	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	377					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCTGCATCCTCTTCAAGAGGA	0.572																																						uc001pvs.2		NA																	0				ovary(2)	2						c.(1129-1131)CTC>CTG		ATP-binding cassette, subfamily G, member 4							262.0	240.0	247.0					11																	119029006		2200	4295	6495	SO:0001819	synonymous_variant	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119029006C>G	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1131C>G	11.37:g.119029006C>G						ABCG4_uc009zar.2_Silent_p.L377L	p.L377L	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	10	1467	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	377			Cytoplasmic (Potential).		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	c.1131C>G	CCDS8415.1																																																																																				0.572	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		42	315	0	0	0	0	42	315				
BSX	390259	broad.mit.edu	37	11	122850040	122850040	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:122850040C>T	ENST00000343035.2	-	2	436	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	130					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CGCTGGATCTCGAACCTCTTC	0.682																																						uc010rzs.1		NA																	0					0						c.(388-390)GAG>AAG		brain specific homeobox							57.0	68.0	64.0					11																	122850040		2067	4201	6268	SO:0001583	missense	390259							g.chr11:122850040C>T		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.388G>A	11.37:g.122850040C>T	ENSP00000344285:p.Glu130Lys						p.E130K	NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	2	388	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	130			Homeobox.			Missense_Mutation	SNP	ENST00000343035.2	37	c.388G>A	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788595	0.90367	.	.	ENSG00000188909	ENST00000343035	D	0.96168	-3.93	5.22	3.23	0.37069	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.104172	0.64402	N	0.000004	D	0.92485	0.7614	N	0.16233	0.39	0.80722	D	1	D	0.56287	0.975	P	0.55303	0.773	D	0.89943	0.4074	10	0.28530	T	0.3	.	10.3787	0.44099	0.0:0.7916:0.1346:0.0738	.	130	Q3C1V8	BSH_HUMAN	K	130	ENSP00000344285:E130K	ENSP00000344285:E130K	E	-	1	0	BSX	122355250	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.910000	0.69931	1.212000	0.43366	0.655000	0.94253	GAG		0.682	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		10	98	0	0	0	0	10	98				
FAM118B	79607	broad.mit.edu	37	11	126126666	126126666	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr11:126126666A>G	ENST00000533050.1	+	7	1394	c.901A>G	c.(901-903)Atc>Gtc	p.I301V	FAM118B_ENST00000360194.4_Missense_Mutation_p.I301V|FAM118B_ENST00000529731.1_Missense_Mutation_p.I225V	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	301										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		GATTAAAGTCATCTCCTATGG	0.433																																						uc001qdf.2		NA																	0					0						c.(901-903)ATC>GTC		hypothetical protein LOC79607							155.0	162.0	160.0					11																	126126666		2201	4299	6500	SO:0001583	missense	79607							g.chr11:126126666A>G	BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.901A>G	11.37:g.126126666A>G	ENSP00000433343:p.Ile301Val					FAM118B_uc009zca.2_Missense_Mutation_p.I305V|FAM118B_uc001qdg.2_Missense_Mutation_p.I301V	p.I301V	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)	7	1084	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	301					Q9H7B0	Missense_Mutation	SNP	ENST00000533050.1	37	c.901A>G	CCDS8470.1	.	.	.	.	.	.	.	.	.	.	A	9.617	1.132708	0.21041	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194;ENST00000525338	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.04	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.10723	0.0262	N	0.02011	-0.69	0.54753	D	0.999983	B;B;B	0.26445	0.0;0.149;0.129	B;B;B	0.29663	0.001;0.105;0.054	T	0.14868	-1.0457	10	0.34782	T	0.22	-22.8081	10.7017	0.45931	0.9252:0.0:0.0748:0.0	.	225;301;301	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	V	301;301;225;301;225	ENSP00000433343:I301V;ENSP00000434952:I301V;ENSP00000432712:I225V;ENSP00000353321:I301V;ENSP00000435754:I225V	ENSP00000353321:I301V	I	+	1	0	FAM118B	125631876	1.000000	0.71417	0.929000	0.37066	0.916000	0.54674	8.916000	0.92745	0.939000	0.37446	0.482000	0.46254	ATC		0.433	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556		53	168	0	0	0	0	53	168				
WNK1	65125	broad.mit.edu	37	12	970337	970337	+	Silent	SNP	A	A	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:970337A>G	ENST00000315939.6	+	7	2422	c.1779A>G	c.(1777-1779)gtA>gtG	p.V593V	WNK1_ENST00000530271.2_Silent_p.V593V|WNK1_ENST00000537687.1_Silent_p.V593V|WNK1_ENST00000340908.4_Silent_p.V186V|WNK1_ENST00000535572.1_Silent_p.V593V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	593					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AACAGCAGGTAGAACAATCCA	0.473																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3		NA																	0				stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(1777-1779)GTA>GTG		WNK lysine deficient protein kinase 1							111.0	97.0	101.0					12																	970337		2203	4300	6503	SO:0001819	synonymous_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:970337A>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1779A>G	12.37:g.970337A>G						WNK1_uc001qip.3_Silent_p.V593V|WNK1_uc001qir.3_Silent_p.V40V	p.V593V	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		7	2286	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		593					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.1779A>G	CCDS8506.1																																																																																				0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		25	85	0	0	0	0	25	85				
PAN2	9924	broad.mit.edu	37	12	56718209	56718209	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:56718209G>A	ENST00000425394.2	-	12	2173	c.1797C>T	c.(1795-1797)gaC>gaT	p.D599D	PAN2_ENST00000257931.5_Silent_p.D599D|PAN2_ENST00000548043.1_Silent_p.D599D|PAN2_ENST00000440411.3_Silent_p.D599D	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CCTCATCTGAGTCAGCCAGGA	0.498																																						uc001skx.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(1795-1797)GAC>GAT		PAN2 polyA specific ribonuclease subunit homolog							70.0	71.0	70.0					12																	56718209		2203	4300	6503	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56718209G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1797C>T	12.37:g.56718209G>A						PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Silent_p.D599D|PAN2_uc001sky.2_Silent_p.D599D	p.D599D	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			12	2170	-			599						Silent	SNP	ENST00000425394.2	37	c.1797C>T	CCDS44922.1																																																																																				0.498	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		5	51	0	0	0	0	5	51				
TMTC2	160335	broad.mit.edu	37	12	83359465	83359465	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:83359465C>G	ENST00000321196.3	+	6	2518	c.1811C>G	c.(1810-1812)tCt>tGt	p.S604C	TMTC2_ENST00000548305.1_Missense_Mutation_p.S604C|TMTC2_ENST00000549919.1_Missense_Mutation_p.S598C	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	604					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CACAAGAGCTCTGTTACCAGT	0.488																																						uc001szt.2		NA																	0				ovary(2)	2						c.(1810-1812)TCT>TGT		transmembrane and tetratricopeptide repeat							129.0	121.0	123.0					12																	83359465		2203	4299	6502	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83359465C>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1811C>G	12.37:g.83359465C>G	ENSP00000322300:p.Ser604Cys					TMTC2_uc001szr.1_Missense_Mutation_p.S604C|TMTC2_uc001szs.1_Missense_Mutation_p.S604C|TMTC2_uc010suk.1_Missense_Mutation_p.S359C	p.S604C	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			6	2243	+			604					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.1811C>G	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620467	0.87460	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	D;D;D	0.94330	-3.4;-3.4;-3.4	5.07	5.07	0.68467	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.96972	0.9011	M	0.86268	2.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.72982	0.979;0.936;0.964	D	0.97321	0.9944	10	0.62326	D	0.03	-14.9936	18.8113	0.92058	0.0:1.0:0.0:0.0	.	604;359;604	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	C	604;604;598;359	ENSP00000322300:S604C;ENSP00000448292:S604C;ENSP00000447609:S598C	ENSP00000322300:S604C	S	+	2	0	TMTC2	81883596	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	7.445000	0.80570	2.513000	0.84729	0.585000	0.79938	TCT		0.488	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		4	71	0	0	0	0	4	71				
WSCD2	9671	broad.mit.edu	37	12	108634156	108634156	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:108634156C>T	ENST00000332082.4	+	9	1998	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W	WSCD2_ENST00000547525.1_Missense_Mutation_p.R394W|WSCD2_ENST00000261400.3_Missense_Mutation_p.R394W|WSCD2_ENST00000549903.1_Missense_Mutation_p.R394W			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	394						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCGCAGCGGACGGACCATCTG	0.617																																						uc001tms.2		NA																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(1180-1182)CGG>TGG		WSC domain containing 2							125.0	135.0	132.0					12																	108634156		2062	4206	6268	SO:0001583	missense	9671					integral to membrane		g.chr12:108634156C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1180C>T	12.37:g.108634156C>T	ENSP00000331933:p.Arg394Trp					WSCD2_uc001tmt.2_Missense_Mutation_p.R394W|WSCD2_uc001tmu.2_Missense_Mutation_p.R142W	p.R394W	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			8	1924	+			394					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.1180C>T	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913119	0.72983	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.35605	1.3;4.59;1.3;4.59	4.91	1.7	0.24286	.	0.099804	0.64402	D	0.000002	T	0.52533	0.1740	M	0.86178	2.8	0.54753	D	0.99998	D;D	0.63046	0.992;0.971	P;B	0.51974	0.686;0.355	T	0.65138	-0.6241	10	0.66056	D	0.02	-25.4236	14.0026	0.64442	0.5985:0.4015:0.0:0.0	.	394;394	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	W	394	ENSP00000448047:R394W;ENSP00000261400:R394W;ENSP00000331933:R394W;ENSP00000447272:R394W	ENSP00000261400:R394W	R	+	1	2	WSCD2	107158286	0.754000	0.28360	0.996000	0.52242	0.962000	0.63368	0.899000	0.28417	0.555000	0.29079	-0.188000	0.12872	CGG		0.617	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		12	147	0	0	0	0	12	147				
UBE3B	89910	broad.mit.edu	37	12	109972413	109972414	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:109972413_109972414GG>TT	ENST00000342494.3	+	28	3628_3629	c.3033_3034GG>TT	c.(3031-3036)ctGGgc>ctTTgc	p.G1012C	UBE3B_ENST00000434735.2_Missense_Mutation_p.G1012C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1012	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GGGACACTCTGGGCAGCGTCCT	0.649																																						uc001top.2		NA																	0				ovary(2)|lung(2)	4						c.(3031-3036)CTGGGC>CTTTGC		ubiquitin protein ligase E3B																																				SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109972413_109972414GG>TT	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	Exception_encountered	12.37:g.109972413_109972414delinsTT	ENSP00000340596:p.Gly1012Cys					UBE3B_uc001toq.2_Missense_Mutation_p.G1012C|UBE3B_uc001tos.2_Missense_Mutation_p.G439C|UBE3B_uc001tot.2_Missense_Mutation_p.G130C|UBE3B_uc010sxp.1_3'UTR	p.G1012C	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			28	3636_3637	+			1012			HECT.		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	DNP	ENST00000342494.3	37	c.3033_3034GG>TT	CCDS9129.1																																																																																				0.649	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		12	41	0	0	0	0	12	41				
POLE	5426	broad.mit.edu	37	12	133202825	133202825	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr12:133202825C>T	ENST00000320574.5	-	46	6452	c.6409G>A	c.(6409-6411)Gag>Aag	p.E2137K	POLE_ENST00000535270.1_Missense_Mutation_p.E2110K	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2137					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCGGAGAACTCGCCGACATCC	0.602								DNA polymerases (catalytic subunits)																														uc001uks.1		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(6409-6411)GAG>AAG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							90.0	69.0	76.0					12																	133202825		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133202825C>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6409G>A	12.37:g.133202825C>T	ENSP00000322570:p.Glu2137Lys					POLE_uc001ukq.1_Missense_Mutation_p.E347K|POLE_uc001ukr.1_Missense_Mutation_p.E941K|POLE_uc010tbq.1_RNA	p.E2137K	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	46	6453	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	2137					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.6409G>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	34	5.334006	0.95758	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000320557;ENST00000535270	T;T;T	0.40225	1.04;1.04;1.04	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.73125	0.3547	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.963;0.989	T	0.81167	-0.1056	10	0.87932	D	0	-4.8877	18.067	0.89394	0.0:1.0:0.0:0.0	.	2137;347	Q07864;B3KS74	DPOE1_HUMAN;.	K	347;2137;2148;52;2110	ENSP00000322570:E2137K;ENSP00000406383:E2148K;ENSP00000445753:E2110K	ENSP00000322473:E52K	E	-	1	0	POLE	131712898	1.000000	0.71417	0.998000	0.56505	0.670000	0.39368	7.569000	0.82380	2.500000	0.84329	0.555000	0.69702	GAG		0.602	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		4	25	0	0	0	0	4	25				
SACS	26278	broad.mit.edu	37	13	23906534	23906534	+	Silent	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr13:23906534C>T	ENST00000382292.3	-	9	11754	c.11481G>A	c.(11479-11481)aaG>aaA	p.K3827K	SACS_ENST00000382298.3_Silent_p.K3827K|SACS_ENST00000402364.1_Silent_p.K3077K			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3827					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTAAAGGTAGCTTGTACAAAT	0.358																																						uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(11479-11481)AAG>AAA		sacsin							65.0	64.0	65.0					13																	23906534		2203	4299	6502	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23906534C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11481G>A	13.37:g.23906534C>T						SACS_uc001uoo.2_Silent_p.K3680K|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.K3827K	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12070	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3827					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.11481G>A	CCDS9300.2																																																																																				0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		14	54	0	0	0	0	14	54				
STARD13	90627	broad.mit.edu	37	13	33703846	33703846	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr13:33703846A>T	ENST00000336934.5	-	5	1084	c.968T>A	c.(967-969)cTc>cAc	p.L323H	STARD13_ENST00000399365.3_Missense_Mutation_p.L205H|STARD13_ENST00000255486.4_Missense_Mutation_p.L315H	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	323					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGAGCATGGGAGCCCTTTTCT	0.597																																						uc001uuw.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(967-969)CTC>CAC		StAR-related lipid transfer (START) domain							85.0	85.0	85.0					13																	33703846		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33703846A>T	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.968T>A	13.37:g.33703846A>T	ENSP00000338785:p.Leu323His					STARD13_uc001uuu.2_Missense_Mutation_p.L315H|STARD13_uc001uuv.2_Missense_Mutation_p.L205H|STARD13_uc001uux.2_Missense_Mutation_p.L288H|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.L308H	p.L323H	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	1094	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	323					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.968T>A	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	A	5.033	0.191703	0.09547	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.06768	3.27;3.26;3.27	5.68	3.25	0.37280	.	0.261548	0.39210	N	0.001438	T	0.12390	0.0301	L	0.43152	1.355	0.25129	N	0.99059	D;P;P;P	0.58970	0.984;0.949;0.915;0.898	P;P;P;P	0.55965	0.788;0.769;0.687;0.673	T	0.12993	-1.0526	10	0.15066	T	0.55	.	8.6821	0.34214	0.7748:0.0:0.2252:0.0	.	315;288;323;315	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	H	205;315;323;315	ENSP00000382300:L205H;ENSP00000255486:L315H;ENSP00000338785:L323H	ENSP00000255486:L315H	L	-	2	0	STARD13	32601846	0.258000	0.24033	0.001000	0.08648	0.055000	0.15305	1.443000	0.35057	0.427000	0.26145	0.533000	0.62120	CTC		0.597	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		4	42	0	0	0	0	4	42				
GPC5	2262	broad.mit.edu	37	13	92345977	92345977	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr13:92345977C>A	ENST00000377067.3	+	3	1234	c.862C>A	c.(862-864)Ctt>Att	p.L288I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	288					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CATGGCGGAGCTTAATCCACA	0.532																																						uc010tif.1		NA																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(862-864)CTT>ATT		glypican 5 precursor							122.0	108.0	112.0					13																	92345977		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345977C>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.862C>A	13.37:g.92345977C>A	ENSP00000366267:p.Leu288Ile						p.L288I	NM_004466	NP_004457	P78333	GPC5_HUMAN			3	1228	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	288					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.862C>A	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	6.411	0.444041	0.12164	.	.	ENSG00000179399	ENST00000377067	T	0.61742	0.08	5.59	3.71	0.42584	.	0.290799	0.35349	N	0.003264	T	0.46852	0.1414	L	0.33710	1.025	0.36635	D	0.876506	B	0.31009	0.303	B	0.43950	0.437	T	0.44097	-0.9350	10	0.05620	T	0.96	-0.5841	7.3305	0.26580	0.2718:0.4863:0.242:0.0	.	288	P78333	GPC5_HUMAN	I	288	ENSP00000366267:L288I	ENSP00000366267:L288I	L	+	1	0	GPC5	91143978	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.589000	0.46145	2.626000	0.88956	0.650000	0.86243	CTT		0.532	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		7	61	1	0	0.00307968	0.00323792	7	61				
LRFN5	145581	broad.mit.edu	37	14	42356945	42356945	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr14:42356945C>T	ENST00000298119.4	+	3	2306	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	LRFN5_ENST00000554171.1_Missense_Mutation_p.H373Y|LRFN5_ENST00000554120.1_Missense_Mutation_p.H373Y	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	373	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGTGGATCTTCATATAATTAA	0.403										HNSCC(30;0.082)																												uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1117-1119)CAT>TAT		leucine rich repeat and fibronectin type III							77.0	79.0	78.0					14																	42356945		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356945C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1117C>T	14.37:g.42356945C>T	ENSP00000298119:p.His373Tyr	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.H373Y	p.H373Y	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2315	+			373			Extracellular (Potential).|Ig-like.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1117C>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	2.306	-0.359021	0.05138	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.66995	-0.24;-0.24;-0.24	5.4	4.51	0.55191	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000018	T	0.56920	0.2018	L	0.39898	1.24	0.36427	D	0.864709	B;P	0.35192	0.119;0.489	B;B	0.32624	0.045;0.149	T	0.65734	-0.6096	10	0.48119	T	0.1	.	13.6714	0.62427	0.1557:0.8443:0.0:0.0	.	373;373	G3V364;Q96NI6	.;LRFN5_HUMAN	Y	373	ENSP00000298119:H373Y;ENSP00000451897:H373Y;ENSP00000451067:H373Y	ENSP00000298119:H373Y	H	+	1	0	LRFN5	41426695	0.983000	0.35010	1.000000	0.80357	0.994000	0.84299	1.815000	0.38981	1.391000	0.46566	0.563000	0.77884	CAT		0.403	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		11	54	0	0	0	0	11	54				
NRXN3	9369	broad.mit.edu	37	14	79933658	79933658	+	Silent	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr14:79933658C>T	ENST00000557594.1	+	2	1295	c.342C>T	c.(340-342)gcC>gcT	p.A114A	NRXN3_ENST00000335750.5_Silent_p.A746A|NRXN3_ENST00000281127.7_Silent_p.A114A|NRXN3_ENST00000428277.2_Silent_p.A114A|NRXN3_ENST00000554719.1_Silent_p.A746A|NRXN3_ENST00000556003.1_3'UTR	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	114	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACCGCCTTGCCGTGGGCTTCA	0.577																																						uc001xun.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(2236-2238)GCC>GCT		neurexin 3 isoform 1 precursor							119.0	101.0	107.0					14																	79933658		2203	4300	6503	SO:0001819	synonymous_variant	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79933658C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.342C>T	14.37:g.79933658C>T						NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.A114A|NRXN3_uc010asw.2_Silent_p.A114A|NRXN3_uc001xur.3_Silent_p.A114A	p.A746A	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	13	2729	+		Renal(4;0.00876)	1119			Extracellular (Potential).|Laminin G-like 6.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000557594.1	37	c.2238C>T																																																																																					0.577	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		15	50	0	0	0	0	15	50				
RASGRP1	10125	broad.mit.edu	37	15	38805096	38805096	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:38805096C>T	ENST00000310803.5	-	7	914	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	RASGRP1_ENST00000559830.1_Missense_Mutation_p.R246Q|RASGRP1_ENST00000450598.2_Missense_Mutation_p.R246Q|RASGRP1_ENST00000539159.1_Missense_Mutation_p.R198Q|RASGRP1_ENST00000558164.1_Missense_Mutation_p.R246Q|RASGRP1_ENST00000561180.1_Missense_Mutation_p.R297Q	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	246	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.R246Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGCAATAGATCGCTCCATGGT	0.468																																						uc001zke.3		NA																	1	Substitution - Missense(1)		central_nervous_system(1)	large_intestine(1)|ovary(1)	2						c.(736-738)CGA>CAA		RAS guanyl releasing protein 1 isoform a							62.0	68.0	66.0					15																	38805096		1936	4141	6077	SO:0001583	missense	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38805096C>T	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.737G>A	15.37:g.38805096C>T	ENSP00000310244:p.Arg246Gln					RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Missense_Mutation_p.R108Q|RASGRP1_uc010bbg.2_Missense_Mutation_p.R108Q|RASGRP1_uc001zkd.3_Missense_Mutation_p.R246Q	p.R246Q	NM_005739	NP_005730	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	7	915	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	246			Ras-GEF.		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	c.737G>A	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	C	35	5.417953	0.96092	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.07	5.07	0.68467	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	M	0.83223	2.63	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.997;0.997;0.995	T	0.63129	-0.6706	10	0.48119	T	0.1	-17.9526	18.6508	0.91430	0.0:1.0:0.0:0.0	.	246;246;246;246	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	Q	246;246;246;246;198;246;246	ENSP00000310244:R246Q;ENSP00000388540:R246Q;ENSP00000444762:R198Q;ENSP00000413105:R246Q	ENSP00000310244:R246Q	R	-	2	0	RASGRP1	36592388	1.000000	0.71417	0.998000	0.56505	0.820000	0.46376	7.651000	0.83577	2.642000	0.89623	0.555000	0.69702	CGA		0.468	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		3	18	0	0	0	0	3	18				
TGM5	9333	broad.mit.edu	37	15	43552685	43552685	+	Missense_Mutation	SNP	G	G	A	rs370983556		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:43552685G>A	ENST00000220420.5	-	2	110	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	TGM5_ENST00000349114.4_Missense_Mutation_p.R35W	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	35					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCCTGGCCCCGGCGAACAAGC	0.572																																						uc001zrd.1		NA																	0				central_nervous_system(1)	1						c.(103-105)CGG>TGG		transglutaminase 5 isoform 1	L-Glutamine(DB00130)	G	TRP/ARG,TRP/ARG	0,4404		0,0,2202	107.0	111.0	110.0		103,103	2.5	1.0	15		110	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	TGM5	NM_004245.3,NM_201631.3	101,101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	35/639,35/721	43552685	1,13001	2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43552685G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.103C>T	15.37:g.43552685G>A	ENSP00000220420:p.Arg35Trp					TGM5_uc001zre.1_Missense_Mutation_p.R35W	p.R35W	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	2	111	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	35					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.103C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.537117	0.45176	0.0	1.16E-4	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.98958	-5.27;-5.27	5.64	2.49	0.30216	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	M	0.91196	3.185	0.27203	N	0.960122	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96408	0.9302	10	0.87932	D	0	-30.4928	12.6995	0.57024	0.0:0.0:0.4354:0.5646	.	35;35	O43548-2;O43548	.;TGM5_HUMAN	W	35;35;34	ENSP00000220420:R35W;ENSP00000220419:R35W	ENSP00000220420:R35W	R	-	1	2	TGM5	41339977	0.240000	0.23847	0.995000	0.50966	0.130000	0.20726	0.259000	0.18405	0.670000	0.31165	0.555000	0.69702	CGG		0.572	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		18	134	0	0	0	0	18	134				
ALDH1A2	8854	broad.mit.edu	37	15	58256141	58256141	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:58256141C>T	ENST00000249750.4	-	9	1795	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R314Q|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R247Q|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R322Q|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R305Q	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	343					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	CCTCTTGGCCCGCTCCACGCT	0.527																																						uc002aex.2		NA																	0				central_nervous_system(1)	1						c.(1027-1029)CGG>CAG		aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						79.0	80.0	80.0					15																	58256141		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58256141C>T	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1028G>A	15.37:g.58256141C>T	ENSP00000249750:p.Arg343Gln					ALDH1A2_uc002aey.2_Missense_Mutation_p.R305Q|ALDH1A2_uc010ugv.1_Missense_Mutation_p.R322Q|ALDH1A2_uc010ugw.1_Missense_Mutation_p.R314Q|ALDH1A2_uc002aew.2_Missense_Mutation_p.R247Q	p.R343Q	NM_003888	NP_003879	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	9	1086	-			343					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.1028G>A	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	C	36	5.856947	0.97030	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.76709	-1.04;-1.04;-1.04	5.6	5.6	0.85130	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.86535	0.5956	M	0.66560	2.04	0.80722	D	1	P;P;D;D	0.69078	0.935;0.92;0.997;0.997	B;B;P;P	0.61592	0.061;0.036;0.891;0.682	D	0.87140	0.2202	10	0.87932	D	0	.	19.9894	0.97361	0.0:1.0:0.0:0.0	.	314;322;305;343	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	Q	343;247;314;305;322	ENSP00000249750:R343Q;ENSP00000309623:R305Q;ENSP00000438296:R322Q	ENSP00000249750:R343Q	R	-	2	0	ALDH1A2	56043433	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.664000	0.61540	2.786000	0.95864	0.650000	0.86243	CGG		0.527	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			9	56	0	0	0	0	9	56				
KIAA1024	23251	broad.mit.edu	37	15	79755583	79755583	+	Missense_Mutation	SNP	C	C	T	rs61746211	byFrequency	TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:79755583C>T	ENST00000305428.3	+	3	2548	c.2473C>T	c.(2473-2475)Cgg>Tgg	p.R825W		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	825						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CGAGGTGAAGCGGGGCCAACC	0.617													C|||	7	0.00139776	0.0	0.0014	5008	,	,		19957	0.0		0.004	False		,,,				2504	0.002					uc002bew.1		NA																	0				pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(2473-2475)CGG>TGG		hypothetical protein LOC23251		C	TRP/ARG	7,4385	12.9+/-30.5	0,7,2189	115.0	102.0	106.0		2473	4.3	1.0	15	dbSNP_129	106	30,8556	21.0+/-64.5	0,30,4263	yes	missense	KIAA1024	NM_015206.2	101	0,37,6452	TT,TC,CC		0.3494,0.1594,0.2851	probably-damaging	825/917	79755583	37,12941	2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79755583C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2473C>T	15.37:g.79755583C>T	ENSP00000307461:p.Arg825Trp					KIAA1024_uc010unk.1_Missense_Mutation_p.R825W	p.R825W	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			3	2548	+			825					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2473C>T	CCDS32306.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	15.26	2.781550	0.49891	0.001594	0.003494	ENSG00000169330	ENST00000305428	T	0.54071	0.59	5.19	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63404	-0.6645	9	.	.	.	.	17.9696	0.89110	0.1239:0.8761:0.0:0.0	rs61746211	825	Q9UPX6	K1024_HUMAN	W	825	ENSP00000307461:R825W	.	R	+	1	2	KIAA1024	77542638	1.000000	0.71417	0.998000	0.56505	0.241000	0.25554	4.170000	0.58229	0.580000	0.29522	-1.367000	0.01198	CGG		0.617	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		7	63	0	0	0	0	7	63				
ARNT2	9915	broad.mit.edu	37	15	80845025	80845025	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:80845025G>A	ENST00000303329.4	+	10	1164	c.999G>A	c.(997-999)gtG>gtA	p.V333V	ARNT2_ENST00000533983.1_Silent_p.V322V|ARNT2_ENST00000527771.1_Silent_p.V322V|RP11-379K22.2_ENST00000558208.1_RNA	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	333	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GGATGTCGGTGCCCACAGAGT	0.498																																						uc002bfr.2		NA																	0				central_nervous_system(3)|ovary(1)|pancreas(1)	5						c.(997-999)GTG>GTA		aryl hydrocarbon receptor nuclear translocator							171.0	141.0	152.0					15																	80845025		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80845025G>A	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.999G>A	15.37:g.80845025G>A						ARNT2_uc010unm.1_Silent_p.V322V|ARNT2_uc002bfs.2_Silent_p.V322V	p.V333V	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		10	1165	+			333			PAS 2.		B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.999G>A	CCDS32307.1																																																																																				0.498	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			9	85	0	0	0	0	9	85				
CEMIP	57214	broad.mit.edu	37	15	81181835	81181835	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr15:81181835G>A	ENST00000394685.3	+	10	1407	c.988G>A	c.(988-990)Gat>Aat	p.D330N	KIAA1199_ENST00000220244.3_Missense_Mutation_p.D330N|KIAA1199_ENST00000356249.5_Missense_Mutation_p.D330N			Q8WUJ3	CEMIP_HUMAN		330	Necessary for its endoplasmic reticulum (ER) retention and interaction with HSPA5.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGAGTGGTTCGATCATGATAA	0.473																																						uc002bfw.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(988-990)GAT>AAT		KIAA1199 precursor							135.0	117.0	123.0					15																	81181835		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81181835G>A																												ENST00000394685.3:c.988G>A	15.37:g.81181835G>A	ENSP00000378177:p.Asp330Asn					KIAA1199_uc010unn.1_Missense_Mutation_p.D330N	p.D330N	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			9	1248	+			330					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.988G>A	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	6.673	0.492647	0.12702	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.16073	2.37;2.37;2.37	5.84	-0.998	0.10212	.	0.731835	0.12675	N	0.448472	T	0.11410	0.0278	L	0.39085	1.19	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.34775	-0.9815	10	0.22706	T	0.39	-3.6	8.1221	0.30978	0.1879:0.2621:0.55:0.0	.	330	Q8WUJ3	K1199_HUMAN	N	330	ENSP00000220244:D330N;ENSP00000378177:D330N;ENSP00000348583:D330N	ENSP00000220244:D330N	D	+	1	0	KIAA1199	78968890	0.004000	0.15560	0.001000	0.08648	0.145000	0.21501	0.006000	0.13152	-0.443000	0.07180	0.650000	0.86243	GAT		0.473	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			5	57	0	0	0	0	5	57				
NUP93	9688	broad.mit.edu	37	16	56875619	56875619	+	Silent	SNP	C	C	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr16:56875619C>A	ENST00000308159.5	+	21	2344	c.2223C>A	c.(2221-2223)atC>atA	p.I741I	NUP93_ENST00000542526.1_Silent_p.I618I|NUP93_ENST00000569842.1_Silent_p.I741I|NUP93_ENST00000564887.1_Silent_p.I618I	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	741					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTATGTAGATCAGGCACAACC	0.522																																					Colon(33;610 796 1305 1705 38917)	uc002eka.2		NA																	0				ovary(1)|lung(1)	2						c.(2221-2223)ATC>ATA		nucleoporin 93kDa							154.0	140.0	145.0					16																	56875619		2198	4300	6498	SO:0001819	synonymous_variant	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56875619C>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.2223C>A	16.37:g.56875619C>A						NUP93_uc002ekb.2_Silent_p.I618I|NUP93_uc010vhi.1_Silent_p.I618I	p.I741I	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN			21	2344	+			741					B3KPQ8|Q14705	Silent	SNP	ENST00000308159.5	37	c.2223C>A	CCDS10769.1																																																																																				0.522	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		16	113	1	0	4.15e-12	4.66e-12	16	113				
DOK4	55715	broad.mit.edu	37	16	57509069	57509069	+	Missense_Mutation	SNP	C	C	T	rs111834942	byFrequency	TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr16:57509069C>T	ENST00000340099.4	-	5	723	c.352G>A	c.(352-354)Gac>Aac	p.D118N	DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000566936.1_Missense_Mutation_p.D118N|DOK4_ENST00000569548.1_Missense_Mutation_p.D118N	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	118					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						AGACTGATGTCGTTGAGGCGG	0.612																																						uc010cdb.2		NA																	0				skin(1)	1						c.(352-354)GAC>AAC		docking protein 4		C	ASN/ASP	2,4394	4.2+/-10.8	0,2,2196	108.0	106.0	106.0		352	4.9	1.0	16	dbSNP_132	106	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DOK4	NM_018110.3	23	0,3,6495	TT,TC,CC		0.0116,0.0455,0.0231	possibly-damaging	118/327	57509069	3,12993	2198	4300	6498	SO:0001583	missense	55715						insulin receptor binding	g.chr16:57509069C>T	BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"""Pleckstrin homology (PH) domain containing"""	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.352G>A	16.37:g.57509069C>T	ENSP00000344277:p.Asp118Asn					DOK4_uc002elu.1_Missense_Mutation_p.D118N|DOK4_uc002elv.3_Missense_Mutation_p.D118N	p.D118N	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN			4	650	-			118					O75209|Q9BTP2|Q9NVV3	Missense_Mutation	SNP	ENST00000340099.4	37	c.352G>A	CCDS10783.1	.	.	.	.	.	.	.	.	.	.	C	34	5.391378	0.95988	4.55E-4	1.16E-4	ENSG00000125170	ENST00000340099	D	0.92099	-2.97	4.95	4.95	0.65309	.	0.116646	0.53938	D	0.000048	D	0.93096	0.7802	M	0.62723	1.935	0.80722	D	1	D;D	0.67145	0.996;0.991	P;P	0.53035	0.716;0.691	D	0.91584	0.5281	10	0.24483	T	0.36	-15.2501	17.1745	0.86838	0.0:1.0:0.0:0.0	.	118;118	Q8TEW6;B2RD67	DOK4_HUMAN;.	N	118	ENSP00000344277:D118N	ENSP00000344277:D118N	D	-	1	0	DOK4	56066570	1.000000	0.71417	0.991000	0.47740	0.909000	0.53808	7.727000	0.84838	2.288000	0.76882	0.650000	0.86243	GAC		0.612	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3			21	90	0	0	0	0	21	90				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	p.R248W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	30	0	0	0	0	9	30				
ZNF18	7566	broad.mit.edu	37	17	11895781	11895781	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:11895781G>T	ENST00000322748.3	-	4	970	c.366C>A	c.(364-366)gaC>gaA	p.D122E	ZNF18_ENST00000580306.2_Missense_Mutation_p.D122E|ZNF18_ENST00000454073.3_Missense_Mutation_p.D122E	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	122	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GTCTCTGGGGGTCCCCCTTCA	0.537																																						uc002gng.1		NA																	0				central_nervous_system(1)	1						c.(364-366)GAC>GAA		zinc finger protein 18							74.0	66.0	68.0					17																	11895781		2203	4300	6503	SO:0001583	missense	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11895781G>T	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.366C>A	17.37:g.11895781G>T	ENSP00000315664:p.Asp122Glu					ZNF18_uc002gnh.1_Missense_Mutation_p.D122E|ZNF18_uc002gni.1_Missense_Mutation_p.D122E	p.D122E	NM_144680	NP_653281	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	4	971	-			122			SCAN box.		Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	c.366C>A	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486589	0.26686	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T;T	0.03860	3.78;3.78	5.39	-4.15	0.03881	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.276731	0.25587	N	0.029643	T	0.01254	0.0041	N	0.03209	-0.39	0.22581	N	0.998961	B;B	0.20550	0.009;0.046	B;B	0.22601	0.013;0.04	T	0.41342	-0.9514	10	0.05436	T	0.98	-14.186	2.1031	0.03684	0.4441:0.1261:0.3014:0.1285	.	122;122	P17022-2;P17022	.;ZNF18_HUMAN	E	122	ENSP00000391376:D122E;ENSP00000315664:D122E	ENSP00000315664:D122E	D	-	3	2	ZNF18	11836506	0.215000	0.23574	0.879000	0.34478	0.590000	0.36582	-0.946000	0.03905	-0.356000	0.08187	-0.140000	0.14226	GAC		0.537	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		8	57	1	0	5.18e-06	5.72e-06	8	57				
CCDC144NL	339184	broad.mit.edu	37	17	20799105	20799105	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:20799105G>A	ENST00000327925.5	-	1	348	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	RNU6-1178P_ENST00000516674.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	77										large_intestine(3)|lung(3)|skin(1)	7						TCTTCCAGGCGGACATCGTGC	0.642																																						uc002gyf.2		NA																	0					0						c.(229-231)CGC>TGC		coiled-coil domain containing 144 family,							69.0	83.0	78.0					17																	20799105		2203	4291	6494	SO:0001583	missense	339184							g.chr17:20799105G>A		CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.229C>T	17.37:g.20799105G>A	ENSP00000328054:p.Arg77Cys					uc002gyg.1_Intron|uc002gyh.1_Intron	p.R77C	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN			1	349	-			77						Missense_Mutation	SNP	ENST00000327925.5	37	c.229C>T	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	g	6.615	0.481845	0.12581	.	.	ENSG00000205212	ENST00000327925	T	0.18960	2.18	0.87	0.87	0.19102	.	.	.	.	.	T	0.09335	0.0230	N	0.08118	0	0.09310	N	1	B	0.20164	0.042	B	0.06405	0.002	T	0.26395	-1.0104	9	0.45353	T	0.12	.	5.162	0.15066	0.0:0.0:1.0:0.0	.	77	Q6NUI1	C144L_HUMAN	C	77	ENSP00000328054:R77C	ENSP00000328054:R77C	R	-	1	0	CCDC144NL	20739697	0.058000	0.20735	0.002000	0.10522	0.048000	0.14542	0.314000	0.19432	0.809000	0.34255	0.274000	0.19336	CGC		0.642	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		15	69	0	0	0	0	15	69				
KCNJ12	3768	broad.mit.edu	37	17	21319815	21319815	+	Silent	SNP	C	C	T	rs144041366		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:21319815C>T	ENST00000583088.1	+	3	2056	c.1161C>T	c.(1159-1161)gaC>gaT	p.D387D	KCNJ12_ENST00000331718.5_Silent_p.D387D	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	387					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TGAGCCGTGACGAGGAGGATG	0.662										Prostate(3;0.18)																												uc002gyv.1		NA																	0				ovary(3)|skin(1)	4						c.(1159-1161)GAC>GAT		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)	C		11,4395	6.2+/-15.9	0,11,2192	68.0	63.0	65.0		1161	-8.6	0.0	17	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCNJ12	NM_021012.4		0,12,6491	TT,TC,CC		0.0116,0.2497,0.0923		387/434	21319815	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319815C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1161C>T	17.37:g.21319815C>T		Prostate(3;0.18)					p.D387D	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1866	+			387			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.1161C>T	CCDS11219.1																																																																																				0.662	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		4	58	0	0	0	0	4	58				
HNF1B	6928	broad.mit.edu	37	17	36091644	36091644	+	Silent	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:36091644C>T	ENST00000225893.4	-	4	1348	c.987G>A	c.(985-987)ctG>ctA	p.L329L	HNF1B_ENST00000427275.2_Silent_p.L303L|HNF1B_ENST00000561193.1_Silent_p.L303L|HNF1B_ENST00000560016.1_Silent_p.L329L	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	329					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CGTGGGAGAGCAGAGGGTTCA	0.587																																					Colon(71;102 1179 9001 27917 43397)	uc002hok.3		NA																	0				ovary(3)	3						c.(985-987)CTG>CTA		hepatocyte nuclear factor 1-beta isoform 1							119.0	85.0	97.0					17																	36091644		2203	4300	6503	SO:0001819	synonymous_variant	6928	Hereditary_Prostate_Cancer			endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36091644C>T	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.987G>A	17.37:g.36091644C>T						HNF1B_uc010wdi.1_Silent_p.L303L|HNF1B_uc010cve.1_Silent_p.L137L	p.L329L	NM_000458	NP_000449	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		4	1208	-		Breast(25;0.00765)|Ovarian(249;0.15)	329					B4DKM3|E0YMJ9	Silent	SNP	ENST00000225893.4	37	c.987G>A	CCDS11324.1																																																																																				0.587	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		5	25	0	0	0	0	5	25				
SLC38A10	124565	broad.mit.edu	37	17	79226463	79226463	+	Missense_Mutation	SNP	C	C	T	rs373504148		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr17:79226463C>T	ENST00000374759.3	-	13	1860	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	SLC38A10_ENST00000288439.5_Missense_Mutation_p.E493K	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	493					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGGTGGGCCTCGCCCACAGGC	0.607																																						uc002jzz.1		NA																	0				pancreas(1)|skin(1)	2						c.(1477-1479)GAG>AAG		solute carrier family 38, member 10 isoform a			LYS/GLU,LYS/GLU	0,4398		0,0,2199	50.0	42.0	45.0		1477,1477	4.3	1.0	17		45	2,8590		0,2,4294	no	missense,missense	SLC38A10	NM_001037984.1,NM_138570.2	56,56	0,2,6493	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	493/1120,493/781	79226463	2,12988	2199	4296	6495	SO:0001583	missense	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79226463C>T	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1477G>A	17.37:g.79226463C>T	ENSP00000363891:p.Glu493Lys					SLC38A10_uc002jzy.1_Missense_Mutation_p.E411K|SLC38A10_uc002kab.2_Missense_Mutation_p.E493K	p.E493K	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		13	1852	-	all_neural(118;0.0804)|Melanoma(429;0.242)		493					Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	c.1477G>A	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830839	0.91036	0.0	2.33E-4	ENSG00000157637	ENST00000374759;ENST00000288439	T;T	0.20069	2.31;2.1	4.26	4.26	0.50523	.	0.839651	0.10816	N	0.631078	T	0.44030	0.1274	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.994	D;P	0.63381	0.914;0.783	T	0.27806	-1.0063	10	0.48119	T	0.1	-39.45	16.8899	0.86084	0.0:1.0:0.0:0.0	.	493;493	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	K	493	ENSP00000363891:E493K;ENSP00000288439:E493K	ENSP00000288439:E493K	E	-	1	0	SLC38A10	76841058	1.000000	0.71417	0.964000	0.40570	0.528000	0.34623	7.172000	0.77604	2.192000	0.70111	0.550000	0.68814	GAG		0.607	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		15	41	0	0	0	0	15	41				
PDE4A	5141	broad.mit.edu	37	19	10571734	10571734	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:10571734G>A	ENST00000352831.6	+	11	1530	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	PDE4A_ENST00000293683.5_Missense_Mutation_p.D448N|PDE4A_ENST00000344979.3_Missense_Mutation_p.D235N|PDE4A_ENST00000380702.2_Missense_Mutation_p.D452N|PDE4A_ENST00000440014.2_Missense_Mutation_p.D413N|PDE4A_ENST00000592685.1_Missense_Mutation_p.D452N	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	474	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TGCCATCCACGATGTGGATCA	0.597																																						uc002moj.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1420-1422)GAT>AAT		phosphodiesterase 4A isoform 1	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						47.0	41.0	43.0					19																	10571734		2203	4300	6503	SO:0001583	missense	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10571734G>A		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1420G>A	19.37:g.10571734G>A	ENSP00000270474:p.Asp474Asn					PDE4A_uc002mok.2_Missense_Mutation_p.D448N|PDE4A_uc002mol.2_Missense_Mutation_p.D413N|PDE4A_uc002mom.2_Missense_Mutation_p.D235N|PDE4A_uc002mon.2_5'UTR|PDE4A_uc002moo.2_Missense_Mutation_p.D140N	p.D474N	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		11	1528	+			474			Catalytic.	Divalent metal cation 2.|cAMP (By similarity).|Divalent metal cation 1.	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	c.1420G>A	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595852	0.86953	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	4.15	4.15	0.48705	Metal-dependent phosphohydrolase, HD domain (1);-cyclic nucleotide phosphodiesterase, conserved site (1);5&apos (3);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (3);	0.000000	0.85682	D	0.000000	D	0.95050	0.8397	H	0.97806	4.08	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.989;1.0;0.998;0.993;0.997	D	0.96553	0.9409	10	0.87932	D	0	.	13.9646	0.64200	0.0:0.0:1.0:0.0	.	140;235;413;448;474	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	N	452;474;448;413;235;140	ENSP00000370078:D452N;ENSP00000270474:D474N;ENSP00000293683:D448N;ENSP00000394754:D413N;ENSP00000341007:D235N	ENSP00000293683:D448N	D	+	1	0	PDE4A	10432734	1.000000	0.71417	0.573000	0.28510	0.485000	0.33311	9.520000	0.98027	2.172000	0.68678	0.555000	0.69702	GAT		0.597	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			6	20	0	0	0	0	6	20				
ZNF99	7652	broad.mit.edu	37	19	22939423	22939423	+	IGR	SNP	G	G	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:22939423G>T	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Nonsense_Mutation_p.Y916*	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTTCACATTTGTACGGTTTCT	0.378																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(2746-2748)TAC>TAA		zinc finger protein 99							34.0	48.0	44.0					19																	22939423		1968	4243	6211	SO:0001628	intergenic_variant	7652							g.chr19:22939423G>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939423G>T							p.Y916*	NM_001080409	NP_001073878					7	2748	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Nonsense_Mutation	SNP	ENST00000596209.1	37	c.2748C>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	18.26	3.585373	0.66105	.	.	ENSG00000213973	ENST00000397104	.	.	.	1.26	-1.32	0.09201	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.588	0.17285	0.5192:0.0:0.4808:0.0	.	.	.	.	X	916	.	ENSP00000380293:Y916X	Y	-	3	2	ZNF99	22731263	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	-1.646000	0.01998	-0.140000	0.11394	0.380000	0.24917	TAC		0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		6	26	1	0	8.13e-05	8.79e-05	6	26				
EXOC3L2	90332	broad.mit.edu	37	19	45719439	45719439	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:45719439G>A	ENST00000252482.3	-	8	860	c.833C>T	c.(832-834)tCg>tTg	p.S278L	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.S278L|AC006126.3_ENST00000591569.1_Intron			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	278					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		ATCCAGCCACGAGGCCTGGGA	0.617																																						uc002pay.1		NA																	0				ovary(1)	1						c.(832-834)TCG>TTG		exocyst complex component 3-like 2							46.0	38.0	41.0					19																	45719439		2203	4300	6503	SO:0001583	missense	90332							g.chr19:45719439G>A	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.833C>T	19.37:g.45719439G>A	ENSP00000252482:p.Ser278Leu						p.S278L	NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	9	874	-		all_neural(266;0.224)|Ovarian(192;0.231)	278			Potential.		Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	c.833C>T	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	G	0.341	-0.950335	0.02285	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.06768	3.26;3.26	4.26	2.01	0.26516	.	0.304407	0.31648	N	0.007298	T	0.05960	0.0155	L	0.35341	1.055	0.24205	N	0.995498	B	0.23185	0.081	B	0.17722	0.019	T	0.39354	-0.9618	10	0.27082	T	0.32	.	7.4633	0.27308	0.1016:0.0:0.7296:0.1688	.	278	Q2M3D2	EX3L2_HUMAN	L	278	ENSP00000252482:S278L;ENSP00000400713:S278L	ENSP00000252482:S278L	S	-	2	0	EXOC3L2	50411279	0.985000	0.35326	0.876000	0.34364	0.255000	0.26057	2.121000	0.41977	-0.052000	0.13311	-1.164000	0.01763	TCG		0.617	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		5	33	0	0	0	0	5	33				
CA11	770	broad.mit.edu	37	19	49143424	49143424	+	Silent	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:49143424C>G	ENST00000084798.4	-	4	1078	c.399G>C	c.(397-399)ctG>ctC	p.L133L	SEC1P_ENST00000430145.2_RNA|DBP_ENST00000222122.5_5'Flank|DBP_ENST00000601104.1_5'Flank	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	133						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	ACAGCAGCCGCAGTTCACTGA	0.592																																						uc002pjz.1		NA																	0					0						c.(397-399)CTG>CTC		carbonic anhydrase XI precursor							80.0	75.0	77.0					19																	49143424		2203	4300	6503	SO:0001819	synonymous_variant	770					extracellular region		g.chr19:49143424C>G	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.399G>C	19.37:g.49143424C>G						SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	p.L133L	NM_001217	NP_001208	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	4	961	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	133					O60596|Q6FHI1|Q9UEC4	Silent	SNP	ENST00000084798.4	37	c.399G>C	CCDS12729.1																																																																																				0.592	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		20	53	0	0	0	0	20	53				
ZNF649	65251	broad.mit.edu	37	19	52394690	52394690	+	Silent	SNP	G	G	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:52394690G>T	ENST00000354957.3	-	5	983	c.699C>A	c.(697-699)ccC>ccA	p.P233P	ZNF649_ENST00000600738.1_Intron|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TACACCCGTGGGGTTTCTCTC	0.502																																						uc002pxy.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(697-699)CCC>CCA		zinc finger protein 649							115.0	113.0	114.0					19																	52394690		2203	4300	6503	SO:0001819	synonymous_variant	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394690G>T	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.699C>A	19.37:g.52394690G>T						ZNF577_uc010ydf.1_5'Flank	p.P233P	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	967	-		all_neural(266;0.0602)	233					A8MYJ5|B2RDC4|Q9H9N2	Silent	SNP	ENST00000354957.3	37	c.699C>A	CCDS12843.1																																																																																				0.502	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		13	61	1	0	0.000151284	0.000162922	13	61				
ZNF665	79788	broad.mit.edu	37	19	53669070	53669070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:53669070G>A	ENST00000600412.1	-	2	593	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	ZNF665_ENST00000396424.3_Nonsense_Mutation_p.Q225*|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGGATGACCTGATGGATTGTT	0.403																																						uc010eqm.1		NA																	0				ovary(2)	2						c.(673-675)CAG>TAG		zinc finger protein 665							111.0	120.0	117.0					19																	53669070		2203	4300	6503	SO:0001587	stop_gained	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53669070G>A		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.478C>T	19.37:g.53669070G>A	ENSP00000469154:p.Gln160*						p.Q225*	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	773	-			160			C2H2-type 2.		A8K5T8	Nonsense_Mutation	SNP	ENST00000600412.1	37	c.673C>T		.	.	.	.	.	.	.	.	.	.	G	16.42	3.118278	0.56505	.	.	ENSG00000197497	ENST00000396424	.	.	.	2.29	1.18	0.20946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	9.0566	0.36410	0.0:0.0:0.7783:0.2217	.	.	.	.	X	225	.	ENSP00000379702:Q225X	Q	-	1	0	ZNF665	58360882	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.568000	0.23623	0.265000	0.21872	0.543000	0.68304	CAG		0.403	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		7	69	0	0	0	0	7	69				
ZIM2	23619	broad.mit.edu	37	19	57286846	57286846	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:57286846A>C	ENST00000391708.3	-	12	1336	c.794T>G	c.(793-795)cTt>cGt	p.L265R	AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.L265R|ZIM2_ENST00000593711.1_Missense_Mutation_p.L265R|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.L265R|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.L265R	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AGGAGTCAAAAGTTTCTCTTG	0.443																																						uc002qnr.2		NA																	0				ovary(3)	3						c.(793-795)CTT>CGT		zinc finger, imprinted 2							103.0	95.0	97.0					19																	57286846		2203	4300	6503	SO:0001583	missense	23619				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57286846A>C	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.794T>G	19.37:g.57286846A>C	ENSP00000375589:p.Leu265Arg					uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.L61R|ZIM2_uc010ygr.1_Missense_Mutation_p.L61R|ZIM2_uc002qnq.2_Missense_Mutation_p.L265R|ZIM2_uc010etp.2_Missense_Mutation_p.L265R|ZIM2_uc010ygs.1_Missense_Mutation_p.L265R	p.L265R	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN		GBM - Glioblastoma multiforme(193;0.0314)	11	1176	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	265					Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.794T>G	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.297095	0.23650	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04862	3.54;3.54	3.94	-1.91	0.07641	.	.	.	.	.	T	0.02929	0.0087	N	0.14661	0.345	.	.	.	B	0.15141	0.012	B	0.10450	0.005	T	0.45629	-0.9248	8	0.25106	T	0.35	.	1.7812	0.03032	0.3029:0.1617:0.3783:0.1571	.	265	Q9NZV7	ZIM2_HUMAN	R	265	ENSP00000375589:L265R;ENSP00000221722:L265R	ENSP00000221722:L265R	L	-	2	0	ZIM2	61978658	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.141000	0.03207	-0.525000	0.06391	-0.291000	0.09656	CTT		0.443	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			12	45	0	0	0	0	12	45				
ZNF154	7710	broad.mit.edu	37	19	58213789	58213789	+	Silent	SNP	G	G	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:58213789G>C	ENST00000512439.2	-	3	724	c.528C>G	c.(526-528)ctC>ctG	p.L176L	AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF154_ENST00000426889.1_Silent_p.L176L			Q13106	ZN154_HUMAN	zinc finger protein 154	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AATGGTCATTGAGACTGTAGC	0.453																																						uc010euf.2		NA																	0					0						c.(526-528)CTC>CTG		zinc finger protein 154							192.0	190.0	191.0					19																	58213789		2162	4287	6449	SO:0001819	synonymous_variant	7710					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58213789G>C	U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.528C>G	19.37:g.58213789G>C						ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_RNA	p.L176L	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	768	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	176			C2H2-type 3.		A7MCY3|Q8IVG7|Q8NAR0	Silent	SNP	ENST00000512439.2	37	c.528C>G	CCDS42639.1																																																																																				0.453	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2			19	111	0	0	0	0	19	111				
ZSCAN22	342945	broad.mit.edu	37	19	58850557	58850557	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:58850557G>C	ENST00000329665.4	+	3	1488	c.1341G>C	c.(1339-1341)caG>caC	p.Q447H		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	447					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CCTTTGCACAGAGCTCCTCCC	0.557																																						uc002qsc.2		NA																	0				pancreas(1)	1						c.(1339-1341)CAG>CAC		zinc finger and SCAN domain containing 22							88.0	83.0	85.0					19																	58850557		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850557G>C	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1341G>C	19.37:g.58850557G>C	ENSP00000332433:p.Gln447His					ZSCAN22_uc010yhz.1_3'UTR	p.Q447H	NM_181846	NP_862829	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	1488	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	447			C2H2-type 7.		Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.1341G>C	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	G	2.753	-0.259598	0.05791	.	.	ENSG00000182318	ENST00000329665	T	0.07327	3.2	4.06	1.48	0.22813	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10465	0.0256	N	0.10782	0.045	0.09310	N	1	D	0.89917	1.0	D	0.67725	0.953	T	0.35500	-0.9786	9	0.36615	T	0.2	.	8.5878	0.33668	0.1656:0.0:0.8344:0.0	.	447	P10073	ZSC22_HUMAN	H	447	ENSP00000332433:Q447H	ENSP00000332433:Q447H	Q	+	3	2	ZSCAN22	63542369	0.000000	0.05858	0.080000	0.20451	0.193000	0.23685	-0.822000	0.04448	0.233000	0.21120	0.563000	0.77884	CAG		0.557	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		7	58	0	0	0	0	7	58				
BCL11A	53335	broad.mit.edu	37	2	60688817	60688817	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:60688817G>A	ENST00000335712.6	-	4	1457	c.1230C>T	c.(1228-1230)tgC>tgT	p.C410C	BCL11A_ENST00000537768.1_Silent_p.C79C|BCL11A_ENST00000358510.4_Silent_p.C376C|BCL11A_ENST00000538214.1_Silent_p.C376C|BCL11A_ENST00000356842.4_Silent_p.C410C|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	410					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACGCGTGGTCGCACAGGTTGC	0.597			T	IGH@	B-CLL																																	uc002sae.1		NA		Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(1228-1230)TGC>TGT		B-cell CLL/lymphoma 11A isoform 1							96.0	90.0	92.0					2																	60688817		2203	4300	6503	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688817G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1230C>T	2.37:g.60688817G>A						BCL11A_uc002sab.2_Silent_p.C410C|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Silent_p.C79C|BCL11A_uc010ypj.1_Silent_p.C376C|BCL11A_uc002sad.1_Silent_p.C258C|BCL11A_uc002saf.1_Silent_p.C376C	p.C410C	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1458	-			410			C2H2-type 3.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.1230C>T	CCDS1862.1																																																																																				0.597	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		18	84	0	0	0	0	18	84				
DUSP11	8446	broad.mit.edu	37	2	73993700	73993700	+	Silent	SNP	G	G	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:73993700G>C	ENST00000272444.3	-	8	821	c.780C>G	c.(778-780)ccC>ccG	p.P260P	DUSP11_ENST00000480948.1_Intron	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	213					peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						CACTTGACCTGGGTACACTGG	0.373																																						uc002sjp.2		NA																	0				skin(1)	1						c.(778-780)CCC>CCG		dual specificity phosphatase 11							112.0	112.0	112.0					2																	73993700		2203	4300	6503	SO:0001819	synonymous_variant	8446				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	g.chr2:73993700G>C	AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.780C>G	2.37:g.73993700G>C							p.P260P	NM_003584	NP_003575	O75319	DUS11_HUMAN			8	822	-			213					B2RCT8|Q6AI47|Q9BWE3	Silent	SNP	ENST00000272444.3	37	c.780C>G	CCDS1928.2																																																																																				0.373	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3			6	76	0	0	0	0	6	76				
ZNF2	7549	broad.mit.edu	37	2	95846873	95846873	+	Silent	SNP	C	C	T	rs549494037		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:95846873C>T	ENST00000340539.5	+	5	762	c.300C>T	c.(298-300)caC>caT	p.H100H	ZNF2_ENST00000425369.1_Silent_p.H20H|ZNF2_ENST00000295210.6_Silent_p.H62H|ZNF2_ENST00000453539.2_Silent_p.H113H|ZNF2_ENST00000398107.2_Silent_p.H58H	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CTGAGATTCACGATGCTTCAG	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		21758	0.0		0.0	False		,,,				2504	0.001					uc002suf.2		NA																	0					0						c.(298-300)CAC>CAT		zinc finger protein 2 isoform a							93.0	90.0	91.0					2																	95846873		1869	4116	5985	SO:0001819	synonymous_variant	7549				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95846873C>T	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.300C>T	2.37:g.95846873C>T						ZNF2_uc002sug.2_Silent_p.H58H|ZNF2_uc010yue.1_Silent_p.H62H|ZNF2_uc010fhs.2_Silent_p.H20H	p.H100H	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN		READ - Rectum adenocarcinoma(193;0.0222)	5	762	+		Ovarian(717;0.00768)	100					A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Silent	SNP	ENST00000340539.5	37	c.300C>T	CCDS42712.1																																																																																				0.423	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088		13	68	0	0	0	0	13	68				
LONRF2	164832	broad.mit.edu	37	2	100919411	100919411	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:100919411C>T	ENST00000393437.3	-	3	1532	c.893G>A	c.(892-894)tGt>tAt	p.C298Y	LONRF2_ENST00000409647.1_Missense_Mutation_p.C55Y	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	298							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CACAGAGTTACATTCAGGATT	0.403																																						uc002tal.3		NA																	0				large_intestine(1)|skin(1)	2						c.(892-894)TGT>TAT		LON peptidase N-terminal domain and ring finger							111.0	105.0	107.0					2																	100919411		2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100919411C>T	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.893G>A	2.37:g.100919411C>T	ENSP00000377086:p.Cys298Tyr					LONRF2_uc010yvs.1_RNA	p.C298Y	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN			3	1533	-			298			TPR 5.		B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.893G>A	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.891051	0.00060	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.36157	1.27;1.27	4.26	2.34	0.29019	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.680439	0.15477	N	0.260283	T	0.20941	0.0504	L	0.40543	1.245	0.09310	N	1	B	0.23128	0.08	B	0.17098	0.017	T	0.33624	-0.9861	10	0.02654	T	1	-0.6228	5.2027	0.15273	0.1846:0.6438:0.0:0.1716	.	298	Q1L5Z9	LONF2_HUMAN	Y	298;55	ENSP00000377086:C298Y;ENSP00000386823:C55Y	ENSP00000377086:C298Y	C	-	2	0	LONRF2	100285843	0.147000	0.22687	0.000000	0.03702	0.065000	0.16274	1.743000	0.38258	0.303000	0.22785	0.561000	0.74099	TGT		0.403	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		26	65	0	0	0	0	26	65				
DPP10	57628	broad.mit.edu	37	2	116485494	116485494	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:116485494G>C	ENST00000410059.1	+	8	1159	c.679G>C	c.(679-681)Gct>Cct	p.A227P	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.A177P|DPP10_ENST00000393147.2_Missense_Mutation_p.A231P|DPP10_ENST00000310323.8_Missense_Mutation_p.A220P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	227						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TAATGGGATTGCTGACTGGTT	0.284																																						uc002tla.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(679-681)GCT>CCT		dipeptidyl peptidase 10 isoform long							44.0	48.0	47.0					2																	116485494		2203	4294	6497	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116485494G>C	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.679G>C	2.37:g.116485494G>C	ENSP00000386565:p.Ala227Pro					DPP10_uc002tlb.1_Missense_Mutation_p.A177P|DPP10_uc002tlc.1_Missense_Mutation_p.A223P|DPP10_uc002tle.2_Missense_Mutation_p.A231P|DPP10_uc002tlf.1_Missense_Mutation_p.A220P	p.A227P	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			8	1136	+			227			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.679G>C	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928317	0.34002	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	5.73	4.84	0.62591	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.082565	0.56097	D	0.000025	T	0.14743	0.0356	N	0.02865	-0.47	0.53688	D	0.999971	B;P;B;B	0.38335	0.004;0.627;0.013;0.006	B;P;B;B	0.46076	0.018;0.503;0.075;0.052	T	0.20140	-1.0284	10	0.07325	T	0.83	-31.5045	6.8391	0.23953	0.1425:0.0:0.7099:0.1475	.	220;231;223;227	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	P	227;177;223;231;220;177	ENSP00000386565:A227P;ENSP00000387038:A177P;ENSP00000376854:A223P;ENSP00000376855:A231P;ENSP00000309066:A220P	ENSP00000309066:A220P	A	+	1	0	DPP10	116201964	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.731000	0.47343	1.418000	0.47098	-0.282000	0.10007	GCT		0.284	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		4	36	0	0	0	0	4	36				
NCL	4691	broad.mit.edu	37	2	232323778	232323778	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:232323778T>C	ENST00000322723.4	-	7	1339	c.1099A>G	c.(1099-1101)Act>Gct	p.T367A	SNORD82_ENST00000365530.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	367	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTCAAACCAGTGAGTTCCAAC	0.378																																						uc002vru.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1099-1101)ACT>GCT		nucleolin							169.0	149.0	156.0					2																	232323778		2203	4300	6503	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232323778T>C		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1099A>G	2.37:g.232323778T>C	ENSP00000318195:p.Thr367Ala					SNORD20_uc002vrw.1_5'Flank	p.T367A	NM_005381	NP_005372	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	7	1240	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	367			RRM 1.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.1099A>G	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.798637	0.50208	.	.	ENSG00000115053	ENST00000322723;ENST00000392033	T	0.05925	3.37	5.29	5.29	0.74685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.240904	0.49305	D	0.000147	T	0.07007	0.0178	L	0.31157	0.91	0.35411	D	0.792431	B	0.11235	0.004	B	0.22386	0.039	T	0.18335	-1.0340	10	0.44086	T	0.13	-7.3528	14.4396	0.67306	0.0:0.0:0.0:1.0	.	367	P19338	NUCL_HUMAN	A	367;259	ENSP00000318195:T367A	ENSP00000318195:T367A	T	-	1	0	NCL	232032022	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.817000	0.75252	2.010000	0.58986	0.451000	0.29950	ACT		0.378	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		29	46	0	0	0	0	29	46				
LRRFIP1	9208	broad.mit.edu	37	2	238671551	238671551	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr2:238671551G>A	ENST00000392000.4	+	11	1312	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N	LRRFIP1_ENST00000244815.5_Missense_Mutation_p.D375N|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.D343N	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	399					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TGCACCAGATGACAGGACCAG	0.493																																						uc002vxe.2		NA																	0				breast(3)	3						c.(1195-1197)GAC>AAC		leucine rich repeat (in FLII) interacting							86.0	91.0	89.0					2																	238671551		2203	4300	6503	SO:0001583	missense	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238671551G>A	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.1195G>A	2.37:g.238671551G>A	ENSP00000375857:p.Asp399Asn					LRRFIP1_uc002vxc.2_Intron|LRRFIP1_uc010znm.1_Intron|LRRFIP1_uc002vxd.2_Missense_Mutation_p.D375N|LRRFIP1_uc002vxf.2_Missense_Mutation_p.D343N	p.D399N	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	11	1487	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	399					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.1195G>A	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438957	0.43326	.	.	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.09911	2.93;2.94;2.94	4.82	3.92	0.45320	.	3.315260	0.00725	N	0.000906	T	0.12860	0.0312	L	0.27053	0.805	0.09310	N	1	P;B;B	0.36535	0.557;0.244;0.358	B;B;B	0.38616	0.277;0.08;0.215	T	0.36261	-0.9755	10	0.59425	D	0.04	-1.0458	10.3138	0.43725	0.1001:0.0:0.8999:0.0	.	343;399;375	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	N	343;375;399	ENSP00000289175:D343N;ENSP00000244815:D375N;ENSP00000375857:D399N	ENSP00000244815:D375N	D	+	1	0	LRRFIP1	238336290	0.326000	0.24669	0.039000	0.18376	0.042000	0.13812	2.308000	0.43690	1.119000	0.41883	0.650000	0.86243	GAC		0.493	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		8	68	0	0	0	0	8	68				
PAK7	57144	broad.mit.edu	37	20	9561425	9561425	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr20:9561425G>A	ENST00000378429.3	-	5	903	c.357C>T	c.(355-357)caC>caT	p.H119H	PAK7_ENST00000353224.5_Silent_p.H119H|PAK7_ENST00000378423.1_Silent_p.H119H	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	119	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTTCTTCCGCGTGGCCTGGAC	0.527																																						uc002wnl.2		NA																	0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(355-357)CAC>CAT		p21-activated kinase 7							172.0	175.0	174.0					20																	9561425		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561425G>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.357C>T	20.37:g.9561425G>A						PAK7_uc002wnk.2_Silent_p.H119H|PAK7_uc002wnj.2_Silent_p.H119H|PAK7_uc010gby.1_Silent_p.H119H	p.H119H	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	902	-			119			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.357C>T	CCDS13107.1																																																																																				0.527	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			19	141	0	0	0	0	19	141				
MATN4	8785	broad.mit.edu	37	20	43932984	43932984	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr20:43932984G>A	ENST00000372754.1	-	2	535	c.527C>T	c.(526-528)gCg>gTg	p.A176V	MATN4_ENST00000353917.5_Missense_Mutation_p.A176V|MATN4_ENST00000360607.6_Missense_Mutation_p.A176V|MATN4_ENST00000537548.1_Missense_Mutation_p.A176V|MATN4_ENST00000372751.4_Intron|RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000372756.1_Missense_Mutation_p.A176V|MATN4_ENST00000342716.4_Missense_Mutation_p.A176V|RBPJL_ENST00000372743.1_5'Flank|RBPJL_ENST00000372741.3_5'Flank			O95460	MATN4_HUMAN	matrilin 4	176	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GCCCACGTCCGCGCGCTGCAC	0.692																																						uc002xnn.2		NA																	0					0						c.(526-528)GCG>GTG		matrilin 4 isoform 1 precursor							20.0	20.0	20.0					20																	43932984		2193	4276	6469	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43932984G>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.527C>T	20.37:g.43932984G>A	ENSP00000361840:p.Ala176Val					MATN4_uc002xno.2_Missense_Mutation_p.A176V|MATN4_uc002xnp.2_Missense_Mutation_p.A176V|MATN4_uc010zwr.1_Missense_Mutation_p.A124V|MATN4_uc002xnr.1_Missense_Mutation_p.A176V|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	p.A176V	NM_003833	NP_003824	O95460	MATN4_HUMAN			3	714	-		Myeloproliferative disorder(115;0.0122)	176			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.527C>T		.	.	.	.	.	.	.	.	.	.	G	25.7	4.668908	0.88348	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	4.77	4.77	0.60923	.	0.000000	0.43919	D	0.000518	T	0.78104	0.4231	N	0.16307	0.4	0.80722	D	1	D;D;B	0.89917	1.0;0.973;0.405	D;P;B	0.91635	0.999;0.818;0.12	T	0.73190	-0.4061	10	0.13853	T	0.58	.	17.0104	0.86405	0.0:0.0:1.0:0.0	.	176;176;176	A6NNA4;O95460-4;O95460-2	.;.;.	V	176	ENSP00000361840:A176V;ENSP00000361842:A176V;ENSP00000243983:A176V;ENSP00000353819:A176V;ENSP00000343164:A176V;ENSP00000440328:A176V	ENSP00000255132:A176V	A	-	2	0	MATN4	43366398	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	6.500000	0.73687	2.501000	0.84356	0.456000	0.33151	GCG		0.692	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			7	36	0	0	0	0	7	36				
CTCFL	140690	broad.mit.edu	37	20	56087700	56087700	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr20:56087700T>C	ENST00000608263.1	-	7	2100	c.1439A>G	c.(1438-1440)cAt>cGt	p.H480R	CTCFL_ENST00000502686.2_Missense_Mutation_p.H218R|CTCFL_ENST00000608858.1_5'Flank|CTCFL_ENST00000423479.3_Missense_Mutation_p.H480R|CTCFL_ENST00000608440.1_Missense_Mutation_p.H480R|CTCFL_ENST00000429804.3_Missense_Mutation_p.H430R|CTCFL_ENST00000243914.3_Missense_Mutation_p.H480R|CTCFL_ENST00000371196.2_Missense_Mutation_p.H480R|CTCFL_ENST00000539382.1_Missense_Mutation_p.H275R|CTCFL_ENST00000608903.1_Missense_Mutation_p.H218R|CTCFL_ENST00000608425.1_Missense_Mutation_p.H480R|CTCFL_ENST00000433949.3_Missense_Mutation_p.H275R|CTCFL_ENST00000609232.1_Missense_Mutation_p.H480R|CTCFL_ENST00000422869.2_Missense_Mutation_p.H480R|CTCFL_ENST00000432255.2_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	480					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|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 involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTCATTCTTATGAGTTTTCTG	0.458																																						uc010gix.1		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(1438-1440)CAT>CGT		CCCTC-binding factor-like protein							113.0	96.0	101.0					20																	56087700		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56087700T>C		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1439A>G	20.37:g.56087700T>C	ENSP00000476783:p.His480Arg					CTCFL_uc010giw.1_Missense_Mutation_p.H480R|CTCFL_uc002xym.2_Missense_Mutation_p.H480R|CTCFL_uc010giz.1_Missense_Mutation_p.H68R|CTCFL_uc010giy.1_Missense_Mutation_p.H150R|CTCFL_uc010gja.1_Missense_Mutation_p.H430R|CTCFL_uc010gjb.1_Missense_Mutation_p.H480R|CTCFL_uc010gjc.1_Missense_Mutation_p.H480R|CTCFL_uc010gjd.1_Missense_Mutation_p.H480R|CTCFL_uc010gje.2_Missense_Mutation_p.H480R|CTCFL_uc010gjf.2_Missense_Mutation_p.H275R|CTCFL_uc010gjg.2_Missense_Mutation_p.H212R|CTCFL_uc010gjh.1_Intron|CTCFL_uc010gji.1_Missense_Mutation_p.H275R|CTCFL_uc010gjj.1_Missense_Mutation_p.H480R	p.H480R	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		7	2101	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		480			C2H2-type 8.		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.1439A>G	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.964883	0.53507	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.35	5.35	0.76521	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000321	D	0.85461	0.5702	M	0.92219	3.285	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999;0.999	D	0.89055	0.3458	10	0.87932	D	0	-31.6129	14.3235	0.66502	0.0:0.0:0.0:1.0	.	480;480;430;480;480;480	A6XGM9;A6XGM2;E7EUE3;A1L4C6;A6XGL8;Q8NI51	.;.;.;.;.;CTCFL_HUMAN	R	480;480;480;430;480;218;275;480	ENSP00000415579:H480R;ENSP00000243914:H480R;ENSP00000360239:H480R;ENSP00000415329:H430R;ENSP00000392034:H480R;ENSP00000437999:H218R;ENSP00000439998:H275R;ENSP00000399061:H480R	ENSP00000243914:H480R	H	-	2	0	CTCFL	55521106	1.000000	0.71417	0.082000	0.20525	0.043000	0.13939	7.736000	0.84948	2.013000	0.59113	0.533000	0.62120	CAT		0.458	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		10	64	0	0	0	0	10	64				
ZNF831	128611	broad.mit.edu	37	20	57766526	57766526	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr20:57766526G>A	ENST00000371030.2	+	1	452	c.452G>A	c.(451-453)cGc>cAc	p.R151H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	151							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CACTGTGGTCGCGACTGCCTG	0.662																																						uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(451-453)CGC>CAC		zinc finger protein 831							72.0	77.0	75.0					20																	57766526		2100	4219	6319	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766526G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.452G>A	20.37:g.57766526G>A	ENSP00000360069:p.Arg151His						p.R151H	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	452	+	all_lung(29;0.0085)		151			C2H2-type 1.		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.452G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404865	0.83230	.	.	ENSG00000124203	ENST00000371030	T	0.29655	1.56	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33527	0.0866	N	0.19112	0.55	0.44595	D	0.997566	P	0.48350	0.909	P	0.50896	0.653	T	0.16070	-1.0415	9	0.87932	D	0	-16.2791	18.1834	0.89786	0.0:0.0:1.0:0.0	.	151	Q5JPB2	ZN831_HUMAN	H	151	ENSP00000360069:R151H	ENSP00000360069:R151H	R	+	2	0	ZNF831	57199921	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	7.795000	0.85887	2.538000	0.85594	0.561000	0.74099	CGC		0.662	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		30	105	0	0	0	0	30	105				
DOPEY2	9980	broad.mit.edu	37	21	37652617	37652617	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr21:37652617G>A	ENST00000399151.3	+	31	6089	c.6004G>A	c.(6004-6006)Gag>Aag	p.E2002K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2002					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTGACTCATGAGAAAACAAT	0.308																																						uc002yvg.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(6004-6006)GAG>AAG		pad-1-like							187.0	168.0	175.0					21																	37652617		2202	4299	6501	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37652617G>A	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6004G>A	21.37:g.37652617G>A	ENSP00000382104:p.Glu2002Lys					DOPEY2_uc011aeb.1_Missense_Mutation_p.E1951K	p.E2002K	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			31	6083	+			2002					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.6004G>A	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440009	0.96168	.	.	ENSG00000142197	ENST00000399151	T	0.59364	0.27	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.78123	0.4234	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.80625	-0.1299	10	0.87932	D	0	-2.5469	19.2134	0.93766	0.0:0.0:1.0:0.0	.	1995;2002	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	K	2002	ENSP00000382104:E2002K	ENSP00000382104:E2002K	E	+	1	0	DOPEY2	36574487	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.325000	0.96381	2.545000	0.85829	0.655000	0.94253	GAG		0.308	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		9	30	0	0	0	0	9	30				
CBS	875	broad.mit.edu	37	21	44474014	44474014	+	Silent	SNP	G	G	A	rs566810122	byFrequency	TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr21:44474014G>A	ENST00000398165.3	-	17	1891	c.1632C>T	c.(1630-1632)gcC>gcT	p.A544A	CBS_ENST00000398168.1_Silent_p.A558A|CBS_ENST00000359624.3_Silent_p.A544A|CBS_ENST00000352178.5_Silent_p.A544A|CBS_ENST00000398158.1_Silent_p.A544A|CBS_ENST00000544202.1_Silent_p.A456A	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	544					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	GCTCCTGGGCGGCCACGAAGT	0.647													G|||	4	0.000798722	0.0	0.0	5008	,	,		16905	0.004		0.0	False		,,,				2504	0.0					uc002zcu.2		NA																	0					0						c.(1630-1632)GCC>GCT		cystathionine-beta-synthase	L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)						41.0	40.0	40.0					21																	44474014		2203	4300	6503	SO:0001819	synonymous_variant	875				cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	g.chr21:44474014G>A	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.1632C>T	21.37:g.44474014G>A						CBS_uc002zcs.1_Silent_p.A439A|CBS_uc002zct.2_Silent_p.A544A|CBS_uc002zcw.3_Silent_p.A544A|CBS_uc002zcv.2_Silent_p.A544A	p.A544A	NM_000071	NP_000062	P35520	CBS_HUMAN			17	1877	-			544					B2R993|D3DSK4|Q99425|Q9BWC5	Silent	SNP	ENST00000398165.3	37	c.1632C>T	CCDS13693.1	.	.	.	.	.	.	.	.	.	.	G	7.741	0.701278	0.15172	.	.	ENSG00000160200	ENST00000451248	.	.	.	5.2	-10.4	0.00318	.	.	.	.	.	T	0.33789	0.0875	.	.	.	0.49299	D	0.99977	.	.	.	.	.	.	T	0.52830	-0.8523	4	.	.	.	-15.7368	2.1658	0.03836	0.3264:0.334:0.0826:0.257	.	.	.	.	C	142	.	.	R	-	1	0	CBS	43347083	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-1.922000	0.01568	-4.362000	0.00054	-1.511000	0.00944	CGC		0.647	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071		6	36	0	0	0	0	6	36				
GNAZ	2781	broad.mit.edu	37	22	23465286	23465286	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr22:23465286G>A	ENST00000248996.4	+	3	1402	c.736G>A	c.(736-738)Gag>Aag	p.E246K	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	246					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TCGGATGGCAGAGAGCTTGCG	0.542																																						uc002zwu.1		NA																	0				kidney(1)|skin(1)	2						c.(736-738)GAG>AAG		guanine nucleotide binding protein, alpha z							81.0	82.0	82.0					22																	23465286		2203	4300	6503	SO:0001583	missense	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23465286G>A		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.736G>A	22.37:g.23465286G>A	ENSP00000248996:p.Glu246Lys					RTDR1_uc002zwt.2_Intron	p.E246K	NM_002073	NP_002064	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	3	1273	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		246					B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	c.736G>A	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155622	0.94686	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.90563	-2.69	5.14	5.14	0.70334	.	0.180616	0.47852	D	0.000209	D	0.97012	0.9024	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98173	1.0453	10	0.87932	D	0	.	17.9627	0.89090	0.0:0.0:1.0:0.0	.	246	P19086	GNAZ_HUMAN	K	246;194	ENSP00000248996:E246K	ENSP00000248996:E246K	E	+	1	0	GNAZ	21795286	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	9.596000	0.98267	2.580000	0.87095	0.655000	0.94253	GAG		0.542	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		12	41	0	0	0	0	12	41				
ELFN2	114794	broad.mit.edu	37	22	37770765	37770765	+	Silent	SNP	G	G	A	rs202059228		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr22:37770765G>A	ENST00000402918.2	-	3	1595	c.810C>T	c.(808-810)gaC>gaT	p.D270D	RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	270					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CCGAGTTCTCGTCTGGCTCCC	0.687													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14849	0.0		0.0	False		,,,				2504	0.0					uc003asq.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(808-810)GAC>GAT		leucine rich repeat containing 62							60.0	62.0	62.0					22																	37770765		2203	4299	6502	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37770765G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.810C>T	22.37:g.37770765G>A							p.D270D	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			3	1596	-	Melanoma(58;0.0574)		270			Extracellular (Potential).		Q96PY3	Silent	SNP	ENST00000402918.2	37	c.810C>T	CCDS33642.1																																																																																				0.687	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		9	40	0	0	0	0	9	40				
POLDIP3	84271	broad.mit.edu	37	22	42999092	42999092	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr22:42999092G>A	ENST00000252115.5	-	2	238	c.134C>T	c.(133-135)aCa>aTa	p.T45I	POLDIP3_ENST00000451060.2_5'Flank|POLDIP3_ENST00000339677.6_Missense_Mutation_p.T45I|POLDIP3_ENST00000491021.1_5'Flank|POLDIP3_ENST00000348657.2_Missense_Mutation_p.T45I	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	45					poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGCTGTGCGTGTTGACTGGCT	0.527																																					Ovarian(52;967 1128 5875 19997 42537)	uc003bcu.2		NA																	0					0						c.(133-135)ACA>ATA		DNA polymerase delta interacting protein 3							92.0	92.0	92.0					22																	42999092		2203	4300	6503	SO:0001583	missense	84271				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr22:42999092G>A		CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.134C>T	22.37:g.42999092G>A	ENSP00000252115:p.Thr45Ile					POLDIP3_uc011app.1_5'UTR|POLDIP3_uc003bcv.2_Missense_Mutation_p.T45I|POLDIP3_uc011apq.1_Missense_Mutation_p.T45I|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_RNA|POLDIP3_uc010gzb.1_Missense_Mutation_p.T45I	p.T45I	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN			2	233	-			45					A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Missense_Mutation	SNP	ENST00000252115.5	37	c.134C>T	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538228	0.45176	.	.	ENSG00000100227	ENST00000348657;ENST00000252115;ENST00000415122;ENST00000339677;ENST00000452567	.	.	.	6.08	5.07	0.68467	.	0.623617	0.17019	N	0.190199	T	0.45094	0.1325	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.23249	0.003;0.082;0.002;0.003	B;B;B;B	0.18561	0.004;0.022;0.008;0.004	T	0.35968	-0.9767	9	0.49607	T	0.09	-13.0209	13.67	0.62418	0.0721:0.0:0.9279:0.0	.	45;45;45;45	B4E0L0;Q6R954;Q9BY77-2;Q9BY77	.;.;.;PDIP3_HUMAN	I	45	.	ENSP00000252115:T45I	T	-	2	0	POLDIP3	41329036	0.290000	0.24343	0.462000	0.27118	0.629000	0.37895	3.251000	0.51453	1.586000	0.49944	0.591000	0.81541	ACA		0.527	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311		5	69	0	0	0	0	5	69				
BRD1	23774	broad.mit.edu	37	22	50181097	50181097	+	Missense_Mutation	SNP	C	C	T	rs140147452		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr22:50181097C>T	ENST00000216267.8	-	7	2891	c.2405G>A	c.(2404-2406)cGg>cAg	p.R802Q	BRD1_ENST00000342989.5_Missense_Mutation_p.R528Q|BRD1_ENST00000542442.1_Missense_Mutation_p.R490Q|BRD1_ENST00000404034.1_Missense_Mutation_p.R802Q|BRD1_ENST00000404760.1_Missense_Mutation_p.R933Q|BRD1_ENST00000457780.2_Missense_Mutation_p.G906R	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	802					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCATGTGCTCCGCGACCTTTT	0.602																																						uc003biv.2		NA																	0				pancreas(1)	1						c.(2404-2406)CGG>CAG		bromodomain containing protein 1		C	GLN/ARG	0,4406		0,0,2203	60.0	62.0	61.0		2405	5.4	1.0	22	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	no	missense	BRD1	NM_014577.1	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	802/1059	50181097	2,13004	2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50181097C>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2405G>A	22.37:g.50181097C>T	ENSP00000216267:p.Arg802Gln					BRD1_uc011arf.1_Missense_Mutation_p.R528Q|BRD1_uc011arg.1_Missense_Mutation_p.R851Q|BRD1_uc011arh.1_Missense_Mutation_p.R802Q|BRD1_uc003biu.3_Missense_Mutation_p.R933Q	p.R802Q	NM_014577	NP_055392	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	7	2892	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	802					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.2405G>A	CCDS14080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.67|17.67	3.448103|3.448103	0.63178|0.63178	0.0|0.0	2.33E-4|2.33E-4	ENSG00000100425|ENSG00000100425	ENST00000457780|ENST00000216267;ENST00000404034;ENST00000404760;ENST00000542442;ENST00000342989;ENST00000419212	T|T;T;T;T;T	0.23754|0.33438	1.89|2.38;2.38;2.4;1.41;1.82	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.173334	.|0.49305	.|D	.|0.000153	T|T	0.48277|0.48277	0.1491|0.1491	M|M	0.65975|0.65975	2.015|2.015	0.27495|0.27495	N|N	0.952171|0.952171	.|D;D;D;D	.|0.76494	.|0.998;0.999;0.992;0.999	.|P;P;P;P	.|0.58391	.|0.668;0.838;0.493;0.822	T|T	0.48456|0.48456	-0.9034|-0.9034	7|10	0.15952|0.12766	T|T	0.53|0.61	.|.	19.1506|19.1506	0.93487|0.93487	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|933;528;802;933	.|Q86X06;B7Z926;O95696;O95696-2	.|.;.;BRD1_HUMAN;.	R|Q	906|802;802;933;490;528;393	ENSP00000410042:G906R|ENSP00000216267:R802Q;ENSP00000384076:R802Q;ENSP00000385858:R933Q;ENSP00000437514:R490Q;ENSP00000345886:R528Q	ENSP00000410042:G906R|ENSP00000216267:R802Q	G|R	-|-	1|2	0|0	BRD1|BRD1	48567101|48567101	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.063000|3.063000	0.49978|0.49978	2.527000|2.527000	0.85204|0.85204	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.602	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		9	39	0	0	0	0	9	39				
TYMP	1890	broad.mit.edu	37	22	50967607	50967607	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr22:50967607G>A	ENST00000252029.3	-	3	537	c.375C>T	c.(373-375)gtC>gtT	p.V125V	TYMP_ENST00000395680.1_Silent_p.V125V|SCO2_ENST00000543927.1_5'Flank|TYMP_ENST00000395678.3_Silent_p.V125V|TYMP_ENST00000395681.1_Silent_p.V125V	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	125					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	GGACCAGGCTGACCTTGTCAC	0.637																																						uc003bmb.3		NA																	0				ovary(1)	1						c.(373-375)GTC>GTT		endothelial cell growth factor 1	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)						57.0	55.0	56.0					22																	50967607		2203	4300	6503	SO:0001819	synonymous_variant	1890				angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	g.chr22:50967607G>A	M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"""gliostatin"""	131222	"""endothelial cell growth factor 1 (platelet-derived)"""	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.375C>T	22.37:g.50967607G>A						TYMP_uc003bmc.3_Silent_p.V125V|TYMP_uc003bmd.3_Silent_p.V125V|TYMP_uc010hbd.2_Silent_p.V125V|TYMP_uc003bme.3_Silent_p.V125V|TYMP_uc003bmf.3_Silent_p.V125V|TYMP_uc011arz.1_Silent_p.V125V	p.V125V	NM_001113756	NP_001107228	P19971	TYPH_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	2	495	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	125					A8MW15|H9KVA0|Q13390|Q8WVB7	Silent	SNP	ENST00000252029.3	37	c.375C>T	CCDS14096.1																																																																																				0.637	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953		5	52	0	0	0	0	5	52				
GRM7	2917	broad.mit.edu	37	3	6903381	6903381	+	Silent	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:6903381C>T	ENST00000357716.4	+	1	580	c.306C>T	c.(304-306)ggC>ggT	p.G102G	GRM7_ENST00000389336.4_Silent_p.G102G|GRM7_ENST00000486284.1_Silent_p.G102G|GRM7_ENST00000402647.2_Silent_p.G102G|GRM7_ENST00000403881.1_Silent_p.G102G	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	102					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TGACGCTGGGCGCGCGGATCC	0.587																																						uc003bqm.2		NA																	0				ovary(4)|lung(3)	7						c.(304-306)GGC>GGT		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						48.0	41.0	43.0					3																	6903381		2203	4300	6503	SO:0001819	synonymous_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903381C>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.306C>T	3.37:g.6903381C>T						GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.G102G|GRM7_uc003bql.2_Silent_p.G102G	p.G102G	NM_000844	NP_000835	Q14831	GRM7_HUMAN			1	580	+			102			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.306C>T	CCDS43042.1																																																																																				0.587	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		4	15	0	0	0	0	4	15				
EXOSC7	23016	broad.mit.edu	37	3	45052755	45052755	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:45052755A>T	ENST00000265564.7	+	8	848	c.800A>T	c.(799-801)cAt>cTt	p.H267L	EXOSC7_ENST00000461361.1_3'UTR|CLEC3B_ENST00000490386.1_Intron	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	267					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		AAGGTACTGCATGCCTCCTTG	0.532																																						uc003coi.2		NA																	0					0						c.(799-801)CAT>CTT		exosome component 7							97.0	76.0	83.0					3																	45052755		2203	4300	6503	SO:0001583	missense	23016				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr3:45052755A>T	BC012831	CCDS2725.1	3p21.32	2010-05-07			ENSG00000075914	ENSG00000075914	3.1.13.-		28112	protein-coding gene	gene with protein product		606488				11719186, 11812149	Standard	NR_023353		Approved	hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8	uc003coi.2	Q15024	OTTHUMG00000133095	ENST00000265564.7:c.800A>T	3.37:g.45052755A>T	ENSP00000265564:p.His267Leu					EXOSC7_uc003coh.1_Missense_Mutation_p.H202L|EXOSC7_uc010his.1_Missense_Mutation_p.H186L|EXOSC7_uc003coj.2_Missense_Mutation_p.H267L	p.H267L	NM_015004	NP_055819	Q15024	EXOS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)	8	829	+			267					Q96E72	Missense_Mutation	SNP	ENST00000265564.7	37	c.800A>T	CCDS2725.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.332363	0.41297	.	.	ENSG00000075914	ENST00000265564	T	0.39229	1.09	6.04	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.39384	0.1076	M	0.64260	1.97	0.80722	D	1	B;B	0.19817	0.039;0.008	B;B	0.17979	0.02;0.005	T	0.17018	-1.0383	10	0.19147	T	0.46	-11.3399	12.5072	0.55987	0.8748:0.0:0.0:0.1252	.	267;267	B2RDZ9;Q15024	.;EXOS7_HUMAN	L	267	ENSP00000265564:H267L	ENSP00000265564:H267L	H	+	2	0	EXOSC7	45027759	1.000000	0.71417	0.815000	0.32552	0.153000	0.21895	8.773000	0.91762	1.069000	0.40788	0.460000	0.39030	CAT		0.532	EXOSC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256754.2	NM_015004		3	11	0	0	0	0	3	11				
C3orf84	646498	broad.mit.edu	37	3	49215451	49215451	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:49215451C>T	ENST00000545770.2	-	4	319	c.233G>A	c.(232-234)cGg>cAg	p.R78Q	C3orf84_ENST00000443990.1_5'UTR|C3orf84_ENST00000432035.2_Missense_Mutation_p.R79Q	NM_001080528.2	NP_001073997.2	H3BNL1	CC084_HUMAN	chromosome 3 open reading frame 84	78																	CAGGTCCTTCCGCCTTCCGAT	0.627																																						uc011bcj.1		NA																	0					0						c.(232-234)CGG>CAG		hypothetical LOC646498							16.0	20.0	19.0					3																	49215451		1956	4148	6104	SO:0001583	missense	646498							g.chr3:49215451C>T		CCDS58831.1	3p21.31	2013-06-21			ENSG00000236980	ENSG00000236980			44666	protein-coding gene	gene with protein product							Standard	NM_001080528		Approved			H3BNL1	OTTHUMG00000156816	ENST00000545770.2:c.233G>A	3.37:g.49215451C>T	ENSP00000454903:p.Arg78Gln						p.R78Q	NM_001080528	NP_001073997				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.00221)|KIRC - Kidney renal clear cell carcinoma(197;0.00247)	3	239	-									Missense_Mutation	SNP	ENST00000545770.2	37	c.233G>A	CCDS58831.1																																																																																				0.627	C3orf84-002	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345986.2			5	25	0	0	0	0	5	25				
SI	6476	broad.mit.edu	37	3	164767620	164767620	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:164767620C>T	ENST00000264382.3	-	14	1618	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	519	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TACATTACATCCTTTTGTTGA	0.284										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1555-1557)GGA>GAA		sucrase-isomaltase	Acarbose(DB00284)						92.0	103.0	99.0					3																	164767620		2202	4287	6489	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164767620C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1556G>A	3.37:g.164767620C>T	ENSP00000264382:p.Gly519Glu	HNSCC(35;0.089)					p.G519E	NM_001041	NP_001032	P14410	SUIS_HUMAN			14	1618	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	519			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1556G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542891	0.45280	.	.	ENSG00000090402	ENST00000264382	D	0.89939	-2.59	5.58	5.58	0.84498	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90645	0.7066	M	0.87971	2.92	0.80722	D	1	P	0.36587	0.559	B	0.34301	0.179	D	0.91184	0.4978	10	0.54805	T	0.06	.	18.5615	0.91101	0.0:1.0:0.0:0.0	.	519	P14410	SUIS_HUMAN	E	519	ENSP00000264382:G519E	ENSP00000264382:G519E	G	-	2	0	SI	166250314	1.000000	0.71417	0.979000	0.43373	0.242000	0.25591	7.206000	0.77891	2.622000	0.88805	0.585000	0.79938	GGA		0.284	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		8	52	0	0	0	0	8	52				
LRRC31	79782	broad.mit.edu	37	3	169557902	169557902	+	Silent	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:169557902C>G	ENST00000316428.5	-	9	1584	c.1527G>C	c.(1525-1527)gtG>gtC	p.V509V	LRRC31_ENST00000264676.5_Silent_p.V453V|LRRC31_ENST00000523069.1_3'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	509										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GAAGCTTGGTCACAGCATATA	0.413																																						uc003fgc.1		NA																	0				ovary(2)|skin(1)	3						c.(1525-1527)GTG>GTC		leucine rich repeat containing 31							145.0	132.0	136.0					3																	169557902		1923	4124	6047	SO:0001819	synonymous_variant	79782							g.chr3:169557902C>G	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1527G>C	3.37:g.169557902C>G						LRRC31_uc010hwp.1_Silent_p.V453V	p.V509V	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		9	1604	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		509					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Silent	SNP	ENST00000316428.5	37	c.1527G>C	CCDS43167.1																																																																																				0.413	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		13	85	0	0	0	0	13	85				
CLCN2	1181	broad.mit.edu	37	3	184074822	184074822	+	Silent	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:184074822C>T	ENST00000265593.4	-	10	1215	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	CLCN2_ENST00000344937.7_Silent_p.V348V|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Silent_p.V304V|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000457512.1_Silent_p.V348V	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	348					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCTTCCGCATCACCTGGACAA	0.522																																						uc003foi.2		NA																	0					0						c.(1042-1044)GTG>GTA		chloride channel 2	Lubiprostone(DB01046)						52.0	55.0	54.0					3																	184074822		2203	4300	6503	SO:0001819	synonymous_variant	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184074822C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1044G>A	3.37:g.184074822C>T						CLCN2_uc003foh.2_5'UTR|CLCN2_uc010hya.1_Silent_p.V348V|CLCN2_uc011brl.1_Silent_p.V348V|CLCN2_uc011brm.1_Silent_p.V304V|CLCN2_uc011brn.1_Silent_p.V348V	p.V348V	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1168	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		348			Helical; (By similarity).		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Silent	SNP	ENST00000265593.4	37	c.1044G>A	CCDS3263.1																																																																																				0.522	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			7	27	0	0	0	0	7	27				
MFI2	4241	broad.mit.edu	37	3	196735818	196735818	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr3:196735818T>C	ENST00000296350.5	-	12	1657	c.1544A>G	c.(1543-1545)aAt>aGt	p.N515S		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	515	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GCAGCTGGCATTGAAGAACTC	0.642																																						uc003fxk.3		NA																	0					0						c.(1543-1545)AAT>AGT		melanoma-associated antigen p97 isoform 1							114.0	115.0	115.0					3																	196735818		2203	4300	6503	SO:0001583	missense	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196735818T>C		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1544A>G	3.37:g.196735818T>C	ENSP00000296350:p.Asn515Ser						p.N515S	NM_005929	NP_005920	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	12	1657	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		515			Transferrin-like 2.		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	c.1544A>G	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	T	1.096	-0.662426	0.03454	.	.	ENSG00000163975	ENST00000296350	T	0.11169	2.8	4.96	0.289	0.15723	.	0.616428	0.17850	N	0.159885	T	0.02156	0.0067	N	0.00811	-1.165	0.29960	N	0.819454	B	0.02656	0.0	B	0.06405	0.002	T	0.45101	-0.9284	10	0.02654	T	1	-11.4927	5.9265	0.19114	0.0:0.1715:0.3079:0.5206	.	515	P08582	TRFM_HUMAN	S	515	ENSP00000296350:N515S	ENSP00000296350:N515S	N	-	2	0	MFI2	198220215	0.131000	0.22433	0.814000	0.32528	0.973000	0.67179	0.442000	0.21628	0.032000	0.15435	0.455000	0.32223	AAT		0.642	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			48	75	0	0	0	0	48	75				
ZBTB49	166793	broad.mit.edu	37	4	4301683	4301683	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:4301683T>C	ENST00000337872.4	+	2	132	c.11T>C	c.(10-12)gTt>gCt	p.V4A	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Missense_Mutation_p.V4A	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ATGGACCCTGTTGCTACCCAC	0.463																																						uc003ghu.2		NA																	0				ovary(1)|skin(1)	2						c.(10-12)GTT>GCT		zinc finger protein 509							152.0	141.0	144.0					4																	4301683		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4301683T>C	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.11T>C	4.37:g.4301683T>C	ENSP00000338807:p.Val4Ala					ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_5'Flank	p.V4A	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN			2	186	+			4					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.11T>C	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326555	0.41197	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000502918	T;T;T	0.76968	2.33;2.68;-1.06	5.44	4.27	0.50696	BTB/POZ fold (1);	0.134805	0.33401	N	0.004949	T	0.61751	0.2372	N	0.16656	0.425	0.80722	D	1	B	0.23377	0.084	B	0.22880	0.042	T	0.58741	-0.7583	10	0.72032	D	0.01	.	8.1933	0.31381	0.0:0.153:0.0:0.847	.	4	Q6ZSB9	ZBT49_HUMAN	A	4	ENSP00000348091:V4A;ENSP00000338807:V4A;ENSP00000425747:V4A	ENSP00000338807:V4A	V	+	2	0	ZBTB49	4352584	1.000000	0.71417	0.133000	0.22050	0.832000	0.47134	4.392000	0.59659	0.929000	0.37192	0.379000	0.24179	GTT		0.463	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		11	72	0	0	0	0	11	72				
UGT2A3	79799	broad.mit.edu	37	4	69795796	69795796	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:69795796G>T	ENST00000251566.4	-	6	1349	c.1319C>A	c.(1318-1320)gCt>gAt	p.A440D	UGT2A3_ENST00000420231.2_Missense_Mutation_p.A151D	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	440					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TAATCTCATAGCATTCTCTTT	0.383																																						uc003hef.2		NA																	0				ovary(1)|skin(1)	2						c.(1318-1320)GCT>GAT		UDP glucuronosyltransferase 2 family,							75.0	80.0	78.0					4																	69795796		2203	4299	6502	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69795796G>T		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1319C>A	4.37:g.69795796G>T	ENSP00000251566:p.Ala440Asp					UGT2A3_uc010ihp.1_RNA	p.A440D	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			6	1350	-			440			Extracellular (Potential).		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1319C>A	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276683	0.40294	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.70986	-0.53;0.11	2.22	0.323	0.15893	.	0.260867	0.37012	N	0.002282	D	0.84638	0.5516	H	0.95365	3.66	0.25664	N	0.985964	D	0.76494	0.999	D	0.75484	0.986	T	0.74306	-0.3708	10	0.87932	D	0	.	5.0273	0.14391	0.4974:0.0:0.5026:0.0	.	440	Q6UWM9	UD2A3_HUMAN	D	440;151	ENSP00000251566:A440D;ENSP00000440115:A151D	ENSP00000251566:A440D	A	-	2	0	UGT2A3	69830385	0.000000	0.05858	0.334000	0.25495	0.953000	0.61014	-0.152000	0.10159	-0.092000	0.12417	0.491000	0.48974	GCT		0.383	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		8	48	1	0	0.000157383	0.000168806	8	48				
SOWAHB	345079	broad.mit.edu	37	4	77818042	77818042	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:77818042C>T	ENST00000334306.2	-	1	960	c.961G>A	c.(961-963)Gat>Aat	p.D321N		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	321																	GGGCCCTGATCACGGGCCTCG	0.672																																						uc003hki.2		NA																	0					0						c.(961-963)GAT>AAT		ankyrin repeat domain 56							21.0	28.0	26.0					4																	77818042		2199	4297	6496	SO:0001583	missense	345079							g.chr4:77818042C>T		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.961G>A	4.37:g.77818042C>T	ENSP00000334879:p.Asp321Asn						p.D321N	NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN			1	961	-			321					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.961G>A	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	C	8.575	0.880937	0.17467	.	.	ENSG00000186212	ENST00000334306	T	0.04758	3.56	4.18	-3.36	0.04913	.	.	.	.	.	T	0.02494	0.0076	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48625	-0.9019	9	0.08837	T	0.75	-0.8079	6.1212	0.20154	0.0:0.2178:0.3661:0.4161	.	321	A6NEL2	ANR56_HUMAN	N	321	ENSP00000334879:D321N	ENSP00000334879:D321N	D	-	1	0	ANKRD56	78037066	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.506000	0.02271	-1.291000	0.02368	-1.140000	0.01884	GAT		0.672	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		6	19	0	0	0	0	6	19				
GK2	2712	broad.mit.edu	37	4	80328687	80328687	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:80328687A>G	ENST00000358842.3	-	1	685	c.668T>C	c.(667-669)tTt>tCt	p.F223S		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	410					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGGAATTTCAAAAAAGTCACA	0.398																																						uc003hlu.2		NA																	0				ovary(2)|skin(2)	4						c.(667-669)TTT>TCT		glycerol kinase 2							65.0	69.0	67.0					4																	80328687		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328687A>G	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.668T>C	4.37:g.80328687A>G	ENSP00000351706:p.Phe223Ser						p.F223S	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	686	-			223					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.668T>C	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.450158	0.43531	.	.	ENSG00000196475	ENST00000358842	T	0.48522	0.81	3.92	3.92	0.45320	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75961	0.3921	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82833	-0.0262	10	0.87932	D	0	-16.3463	11.3785	0.49743	1.0:0.0:0.0:0.0	.	223	Q14410	GLPK2_HUMAN	S	223	ENSP00000351706:F223S	ENSP00000351706:F223S	F	-	2	0	GK2	80547711	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	6.305000	0.72805	2.020000	0.59435	0.477000	0.44152	TTT		0.398	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		16	70	0	0	0	0	16	70				
PDHA2	5161	broad.mit.edu	37	4	96762253	96762253	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:96762253C>G	ENST00000295266.4	+	1	1015	c.952C>G	c.(952-954)Ctc>Gtc	p.L318V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	318					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TATAATAATTCTCCAAGATAG	0.423																																						uc003htr.3		NA																	0				central_nervous_system(1)	1						c.(952-954)CTC>GTC		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						75.0	75.0	75.0					4																	96762253		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762253C>G		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.952C>G	4.37:g.96762253C>G	ENSP00000295266:p.Leu318Val						p.L318V	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	1015	+		Hepatocellular(203;0.114)	318					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.952C>G	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643279	0.29246	.	.	ENSG00000163114	ENST00000295266	D	0.96992	-4.2	4.91	4.91	0.64330	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.96213	0.8765	L	0.33624	1.015	0.51012	D	0.999905	D	0.60160	0.987	D	0.64237	0.923	D	0.95613	0.8674	10	0.42905	T	0.14	-12.3802	16.0034	0.80327	0.0:1.0:0.0:0.0	.	318	P29803	ODPAT_HUMAN	V	318	ENSP00000295266:L318V	ENSP00000295266:L318V	L	+	1	0	PDHA2	96981276	1.000000	0.71417	0.977000	0.42913	0.201000	0.24016	3.374000	0.52402	2.733000	0.93635	0.467000	0.42956	CTC		0.423	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			11	42	0	0	0	0	11	42				
METAP1	23173	broad.mit.edu	37	4	99982433	99982433	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:99982433G>C	ENST00000296411.6	+	11	1260	c.1126G>C	c.(1126-1128)Gac>Cac	p.D376H	METAP1_ENST00000544031.1_Missense_Mutation_p.D326H	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	376					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CCGGCGACTTGACAGTGCACG	0.488																																						uc003huf.3		NA																	0					0						c.(1126-1128)GAC>CAC		methionyl aminopeptidase 1							127.0	131.0	130.0					4																	99982433		1950	4149	6099	SO:0001583	missense	23173				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr4:99982433G>C	D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.1126G>C	4.37:g.99982433G>C	ENSP00000296411:p.Asp376His					METAP1_uc003hug.2_RNA|METAP1_uc010ild.2_RNA	p.D376H	NM_015143	NP_055958	P53582	AMPM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)	11	1243	+			376					B4E2E6	Missense_Mutation	SNP	ENST00000296411.6	37	c.1126G>C	CCDS47110.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446918	0.25987	.	.	ENSG00000164024	ENST00000296411;ENST00000544031;ENST00000510133;ENST00000514051	.	.	.	4.78	4.78	0.61160	Peptidase M24, structural domain (2);	0.109185	0.64402	D	0.000006	T	0.64768	0.2628	M	0.63428	1.95	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.61043	-0.7142	8	.	.	.	-11.4025	17.9927	0.89172	0.0:0.0:1.0:0.0	.	376	P53582	AMPM1_HUMAN	H	376;326;160;106	.	.	D	+	1	0	METAP1	100201456	1.000000	0.71417	0.070000	0.20053	0.049000	0.14656	9.408000	0.97327	2.458000	0.83093	0.655000	0.94253	GAC		0.488	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1	NM_015143		6	54	0	0	0	0	6	54				
FAT4	79633	broad.mit.edu	37	4	126239489	126239489	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:126239489G>A	ENST00000394329.3	+	1	1936	c.1923G>A	c.(1921-1923)ttG>ttA	p.L641L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	641	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGGGAGGTTGAGTACTATTT	0.567																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(1921-1923)TTG>TTA		FAT tumor suppressor homolog 4 precursor							76.0	74.0	75.0					4																	126239489		1969	4146	6115	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239489G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1923G>A	4.37:g.126239489G>A							p.L641L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	1923	+			641			Extracellular (Potential).|Cadherin 6.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.1923G>A	CCDS3732.3																																																																																				0.567	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		7	25	0	0	0	0	7	25				
FAT1	2195	broad.mit.edu	37	4	187630504	187630504	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:187630504C>A	ENST00000441802.2	-	2	687	c.478G>T	c.(478-480)Gaa>Taa	p.E160*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	160	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCTGTGTTTTCAGGTAAAGAA	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(478-480)GAA>TAA		FAT tumor suppressor 1 precursor							184.0	192.0	189.0					4																	187630504		2161	4272	6433	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630504C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.478G>T	4.37:g.187630504C>A	ENSP00000406229:p.Glu160*	HNSCC(5;0.00058)				FAT1_uc010iso.1_Nonsense_Mutation_p.E160*	p.E160*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	666	-			160			Extracellular (Potential).|Cadherin 2.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.478G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	39	7.347185	0.98228	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2894	0.90124	0.0:1.0:0.0:0.0	.	.	.	.	X	160	.	ENSP00000260147:E160X	E	-	1	0	FAT1	187867498	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	7.651000	0.83577	2.657000	0.90304	0.591000	0.81541	GAA		0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		24	137	1	0	7.88e-14	8.88e-14	24	137				
COL4A3BP	10087	broad.mit.edu	37	5	74801835	74801835	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr5:74801835G>A	ENST00000405807.4	-	2	624	c.203C>T	c.(202-204)tCc>tTc	p.S68F	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.S68F|COL4A3BP_ENST00000380494.5_Missense_Mutation_p.S196F	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	68	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		AAGACAGATGGATCCTCTGCA	0.393																																						uc011csu.1		NA																	0				skin(1)	1						c.(202-204)TCC>TTC		alpha 3 type IV collagen binding protein isoform							170.0	161.0	164.0					5																	74801835		2203	4300	6503	SO:0001583	missense	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74801835G>A	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.203C>T	5.37:g.74801835G>A	ENSP00000383996:p.Ser68Phe					COL4A3BP_uc003kds.2_Missense_Mutation_p.S68F|COL4A3BP_uc003kdt.2_Missense_Mutation_p.S196F|COL4A3BP_uc003kdu.2_Missense_Mutation_p.S68F	p.S68F	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	2	625	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	68			PH.		A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.203C>T	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592315	0.86953	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.79352	-1.26;-1.26;-1.26	5.5	4.64	0.57946	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.197733	0.56097	D	0.000033	D	0.86083	0.5848	M	0.72576	2.205	0.80722	D	1	P;P;D	0.59767	0.724;0.946;0.986	P;P;D	0.65684	0.589;0.822;0.937	D	0.87677	0.2545	10	0.87932	D	0	-6.8896	14.3401	0.66619	0.0716:0.0:0.9284:0.0	.	68;196;68	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	F	68;196;68	ENSP00000383996:S68F;ENSP00000369862:S196F;ENSP00000261415:S68F	ENSP00000261415:S68F	S	-	2	0	COL4A3BP	74837591	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.543000	0.82106	1.331000	0.45412	0.585000	0.79938	TCC		0.393	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		6	67	0	0	0	0	6	67				
VCAN	1462	broad.mit.edu	37	5	82834287	82834287	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr5:82834287C>T	ENST00000265077.3	+	8	6030	c.5465C>T	c.(5464-5466)aCc>aTc	p.T1822I	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.T835I|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1822	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GAAGGGCTGACCACTCTCCCA	0.488																																						uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(5464-5466)ACC>ATC		versican isoform 1 precursor							65.0	72.0	70.0					5																	82834287		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82834287C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5465C>T	5.37:g.82834287C>T	ENSP00000265077:p.Thr1822Ile					VCAN_uc003kij.3_Missense_Mutation_p.T835I|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.T486I	p.T1822I	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	5821	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1822			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.5465C>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445285	0.63178	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.89270	-2.49;-2.49;2.71	5.82	5.82	0.92795	.	0.610489	0.16335	N	0.218971	D	0.88194	0.6371	L	0.34521	1.04	0.80722	D	1	P;P	0.44478	0.836;0.747	P;B	0.47206	0.541;0.34	D	0.88118	0.2830	10	0.54805	T	0.06	.	18.2796	0.90094	0.0:1.0:0.0:0.0	.	835;1822	P13611-2;P13611	.;CSPG2_HUMAN	I	1822;835;835	ENSP00000265077:T1822I;ENSP00000340062:T835I;ENSP00000426251:T835I	ENSP00000265077:T1822I	T	+	2	0	VCAN	82870043	0.011000	0.17503	0.031000	0.17742	0.005000	0.04900	2.616000	0.46376	2.752000	0.94435	0.655000	0.94253	ACC		0.488	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		37	59	0	0	0	0	37	59				
PDGFRB	5159	broad.mit.edu	37	5	149512334	149512334	+	Missense_Mutation	SNP	G	G	A	rs375343084		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr5:149512334G>A	ENST00000261799.4	-	7	1575	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	369	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACGTTGCGCGTGGACAGGGC	0.612			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.2		NA		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		0				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(1105-1107)ACG>ATG		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	G	MET/THR	0,4406		0,0,2203	37.0	34.0	35.0		1106	3.6	0.1	5		35	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDGFRB	NM_002609.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	369/1107	149512334	1,13005	2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149512334G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1106C>T	5.37:g.149512334G>A	ENSP00000261799:p.Thr369Met					PDGFRB_uc010jhd.2_Missense_Mutation_p.T208M|PDGFRB_uc011dcg.1_3'UTR	p.T369M	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1575	-		all_hematologic(541;0.224)	369			Ig-like C2-type 4.|Extracellular (Potential).		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1106C>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	9.642	1.139267	0.21205	0.0	1.16E-4	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.67865	-0.29	5.7	3.62	0.41486	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.117433	0.38164	N	0.001798	T	0.52175	0.1718	L	0.50333	1.59	0.22127	N	0.999347	B;B	0.33940	0.305;0.433	B;B	0.29785	0.107;0.084	T	0.51012	-0.8759	10	0.49607	T	0.09	.	3.2092	0.06676	0.0876:0.2083:0.4645:0.2396	.	369;369	A8KAM8;P09619	.;PGFRB_HUMAN	M	369;39	ENSP00000261799:T369M	ENSP00000261799:T369M	T	-	2	0	PDGFRB	149492527	0.671000	0.27521	0.066000	0.19879	0.553000	0.35397	0.804000	0.27098	1.247000	0.43917	0.655000	0.94253	ACG		0.612	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		4	20	0	0	0	0	4	20				
ATP10B	23120	broad.mit.edu	37	5	159992867	159992867	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr5:159992867G>C	ENST00000327245.5	-	26	4825	c.3979C>G	c.(3979-3981)Cta>Gta	p.L1327V		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1327					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTGAGATTAGAGACTTCCCA	0.443																																						uc003lym.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(3979-3981)CTA>GTA		ATPase, class V, type 10B							96.0	97.0	97.0					5																	159992867		1809	4079	5888	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:159992867G>C	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3979C>G	5.37:g.159992867G>C	ENSP00000313600:p.Leu1327Val					ATP10B_uc010jit.1_Missense_Mutation_p.L577V	p.L1327V	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	4826	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1327			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.3979C>G	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	1.520	-0.547287	0.04024	.	.	ENSG00000118322	ENST00000327245	T	0.44083	0.93	5.65	2.93	0.34026	.	0.251356	0.32430	N	0.006116	T	0.30947	0.0781	L	0.53249	1.67	0.18873	N	0.999988	P	0.35433	0.501	B	0.26770	0.073	T	0.12142	-1.0559	9	.	.	.	.	8.2441	0.31677	0.25:0.0:0.75:0.0	.	1327	O94823	AT10B_HUMAN	V	1327	ENSP00000313600:L1327V	.	L	-	1	2	ATP10B	159925445	0.935000	0.31712	0.408000	0.26446	0.030000	0.12068	2.241000	0.43097	0.342000	0.23796	-0.149000	0.13747	CTA		0.443	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		16	111	0	0	0	0	16	111				
RANBP17	64901	broad.mit.edu	37	5	170336684	170336684	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr5:170336684C>T	ENST00000523189.1	+	6	673	c.509C>T	c.(508-510)tCa>tTa	p.S170L		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	170					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTAGACCTTCAGCAAAACAC	0.289			T	TRD@	ALL																																	uc003mba.2		NA		Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				ovary(2)|central_nervous_system(1)	3						c.(508-510)TCA>TTA		RAN binding protein 17							74.0	73.0	74.0					5																	170336684		2202	4296	6498	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170336684C>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.509C>T	5.37:g.170336684C>T	ENSP00000427975:p.Ser170Leu					RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA|RANBP17_uc003maw.2_Missense_Mutation_p.S170L|RANBP17_uc011dew.1_Missense_Mutation_p.S170L	p.S170L	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		6	525	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	170					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.509C>T	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	c	4.934	0.173537	0.09391	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.62232	0.04	5.36	5.36	0.76844	Armadillo-type fold (1);	0.129539	0.35772	N	0.002983	T	0.40322	0.1112	N	0.00327	-1.64	0.32989	D	0.524661	B;D	0.54601	0.0;0.967	B;D	0.63597	0.001;0.916	T	0.52245	-0.8601	10	0.02654	T	1	-8.5027	14.0766	0.64893	0.0:0.8493:0.1507:0.0	.	170;220	Q9H2T7;B4DQG2	RBP17_HUMAN;.	L	170;66	ENSP00000427975:S170L	ENSP00000373770:S170L	S	+	2	0	RANBP17	170269262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.704000	0.54815	2.676000	0.91093	0.655000	0.94253	TCA		0.289	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		4	32	0	0	0	0	4	32				
OR2J3	442186	broad.mit.edu	37	6	29080240	29080240	+	Silent	SNP	G	G	A	rs138982330	byFrequency	TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:29080240G>A	ENST00000377169.1	+	1	573	c.573G>A	c.(571-573)tcG>tcA	p.S191S		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGCGATTATCGTGTGTTGATA	0.463																																						uc011dll.1		NA																	0					0						c.(571-573)TCG>TCA		olfactory receptor, family 2, subfamily J,							98.0	109.0	105.0					6																	29080240		1330	2600	3930	SO:0001819	synonymous_variant	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080240G>A		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.573G>A	6.37:g.29080240G>A							p.S191S	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			1	573	+			191			Extracellular (Potential).		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Silent	SNP	ENST00000377169.1	37	c.573G>A	CCDS43433.1																																																																																				0.463	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			19	49	0	0	0	0	19	49				
PIM1	5292	broad.mit.edu	37	6	37140900	37140900	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:37140900G>A	ENST00000373509.5	+	5	1109	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	337	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CGAGCATGACGAAGAGATCAT	0.532			T	BCL6	NHL																																	uc003onk.2		NA		Dom	yes		6	6p21.2	5292	T	pim-1 oncogene			L	BCL6		NHL		0				large_intestine(1)|central_nervous_system(1)	2						c.(736-738)GAA>AAA		non-specific serine/threonine protein kinase	Adenosine monophosphate(DB00131)						122.0	116.0	118.0					6																	37140900		2203	4300	6503	SO:0001583	missense	5292				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding	g.chr6:37140900G>A		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.736G>A	6.37:g.37140900G>A	ENSP00000362608:p.Glu246Lys					PIM1_uc011dtw.1_Silent_p.T114T	p.E246K	NM_002648	NP_002639	P11309	PIM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		5	1166	+			337			Protein kinase.		Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	c.736G>A	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339383	0.60963	.	.	ENSG00000137193	ENST00000373509	T	0.13657	2.57	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056329	0.64402	D	0.000001	T	0.06142	0.0159	L	0.33624	1.015	0.53688	D	0.999978	B	0.27192	0.171	B	0.24269	0.052	T	0.24048	-1.0171	10	0.25751	T	0.34	.	18.1853	0.89791	0.0:0.0:1.0:0.0	.	337	P11309	PIM1_HUMAN	K	246	ENSP00000362608:E246K	ENSP00000362608:E246K	E	+	1	0	PIM1	37248878	1.000000	0.71417	0.992000	0.48379	0.691000	0.40173	6.337000	0.72958	2.660000	0.90430	0.591000	0.81541	GAA		0.532	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			11	57	0	0	0	0	11	57				
KCNK5	8645	broad.mit.edu	37	6	39158899	39158899	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:39158899C>T	ENST00000359534.3	-	5	1605	c.1267G>A	c.(1267-1269)Gtg>Atg	p.V423M		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	423				V -> A (in Ref. 3; BAG36953). {ECO:0000305}.	excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TCCGTGTTCACGAAGGTGATG	0.617																																						uc003oon.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1267-1269)GTG>ATG		potassium channel, subfamily K, member 5							71.0	66.0	68.0					6																	39158899		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39158899C>T	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.1267G>A	6.37:g.39158899C>T	ENSP00000352527:p.Val423Met						p.V423M	NM_003740	NP_003731	O95279	KCNK5_HUMAN			5	1631	-			423					B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.1267G>A	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722122	0.30503	.	.	ENSG00000164626	ENST00000359534	T	0.24723	1.84	5.97	4.21	0.49690	.	7.032870	0.00166	N	0.000000	T	0.12603	0.0306	L	0.32530	0.975	0.09310	N	1	P	0.47677	0.899	B	0.41646	0.362	T	0.43523	-0.9386	10	0.62326	D	0.03	.	12.6647	0.56835	0.0:0.8669:0.0:0.1331	.	423	O95279	KCNK5_HUMAN	M	423	ENSP00000352527:V423M	ENSP00000352527:V423M	V	-	1	0	KCNK5	39266877	0.802000	0.28943	0.002000	0.10522	0.185000	0.23345	3.150000	0.50662	0.871000	0.35750	0.655000	0.94253	GTG		0.617	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		19	26	0	0	0	0	19	26				
MDN1	23195	broad.mit.edu	37	6	90368044	90368044	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:90368044C>G	ENST00000369393.3	-	90	15182	c.15067G>C	c.(15067-15069)Gag>Cag	p.E5023Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E5023Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5023					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCAAAGCCTCTGGCACCTGC	0.552																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(15067-15069)GAG>CAG		MDN1, midasin homolog							112.0	102.0	105.0					6																	90368044		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90368044C>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15067G>C	6.37:g.90368044C>G	ENSP00000358400:p.Glu5023Gln						p.E5023Q	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	90	15183	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5023					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.15067G>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521514	0.27211	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03413	3.94;3.94	4.87	4.87	0.63330	.	0.065370	0.64402	D	0.000013	T	0.07503	0.0189	L	0.54323	1.7	0.47621	D	0.999472	D	0.71674	0.998	P	0.59761	0.863	T	0.34950	-0.9808	10	0.39692	T	0.17	.	18.3727	0.90412	0.0:1.0:0.0:0.0	.	5023	Q9NU22	MDN1_HUMAN	Q	5023	ENSP00000358400:E5023Q;ENSP00000413970:E5023Q	ENSP00000358400:E5023Q	E	-	1	0	MDN1	90424765	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	5.697000	0.68295	2.386000	0.81285	0.561000	0.74099	GAG		0.552	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			17	65	0	0	0	0	17	65				
AHI1	54806	broad.mit.edu	37	6	135769486	135769486	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:135769486C>G	ENST00000367800.4	-	10	1784	c.1568G>C	c.(1567-1569)aGa>aCa	p.R523T	AHI1_ENST00000327035.6_Missense_Mutation_p.R523T|AHI1_ENST00000457866.2_Missense_Mutation_p.R523T	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	523					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GTAATGATTTCTTGGACATTT	0.383																																						uc003qgi.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(1567-1569)AGA>ACA		Abelson helper integration site 1 isoform a							132.0	122.0	126.0					6																	135769486		1891	4115	6006	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135769486C>G	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.1568G>C	6.37:g.135769486C>G	ENSP00000356774:p.Arg523Thr					AHI1_uc003qgg.2_5'UTR|AHI1_uc003qgh.2_Missense_Mutation_p.R523T|AHI1_uc003qgj.2_Missense_Mutation_p.R523T|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.R523T	p.R523T	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	12	1952	-	Breast(56;0.239)|Colorectal(23;0.24)		523					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.1568G>C	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.3|28.3	4.906625|4.906625	0.92107|0.92107	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367799|ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	.|T;T;T;T	.|0.67865	.|-0.24;-0.24;-0.24;-0.29	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80116|0.80116	0.4564|0.4564	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.997	T|T	0.80578|0.80578	-0.1320|-0.1320	5|10	.|0.87932	.|D	.|0	-26.1432|-26.1432	20.2704|20.2704	0.98474|0.98474	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|523;523	.|Q8N157-2;Q8N157	.|.;AHI1_HUMAN	Q|T	23|523	.|ENSP00000356774:R523T;ENSP00000388650:R523T;ENSP00000265602:R523T;ENSP00000322478:R523T	.|ENSP00000265602:R523T	E|R	-|-	1|2	0|0	AHI1|AHI1	135811179|135811179	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.487000|7.487000	0.81328|0.81328	2.793000|2.793000	0.96121|0.96121	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.383	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		7	32	0	0	0	0	7	32				
MAP3K4	4216	broad.mit.edu	37	6	161508788	161508788	+	Silent	SNP	T	T	C			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:161508788T>C	ENST00000392142.4	+	10	2773	c.2625T>C	c.(2623-2625)atT>atC	p.I875I	MAP3K4_ENST00000366920.2_Silent_p.I875I|MAP3K4_ENST00000348824.7_Silent_p.I875I|MAP3K4_ENST00000366919.2_Silent_p.I875I	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	875					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGAAGAGTATTATTTTGCAGT	0.413																																						uc003qtn.2		NA																	0				ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(2623-2625)ATT>ATC		mitogen-activated protein kinase kinase kinase 4							113.0	110.0	111.0					6																	161508788		2203	4300	6503	SO:0001819	synonymous_variant	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161508788T>C	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2625T>C	6.37:g.161508788T>C						MAP3K4_uc010kkc.1_Silent_p.I875I|MAP3K4_uc003qto.2_Silent_p.I875I|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Silent_p.I328I	p.I875I	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	10	2767	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	875					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	c.2625T>C	CCDS34565.1																																																																																				0.413	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			3	82	0	0	0	0	3	82				
SNX8	29886	broad.mit.edu	37	7	2317747	2317747	+	Silent	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr7:2317747C>T	ENST00000222990.3	-	2	330	c.288G>A	c.(286-288)gaG>gaA	p.E96E		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	96	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GGCTGGAAACCTCATACTCCA	0.582																																						uc003slw.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(286-288)GAG>GAA		sorting nexin 8							95.0	85.0	89.0					7																	2317747		2203	4300	6503	SO:0001819	synonymous_variant	29886				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	g.chr7:2317747C>T	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.288G>A	7.37:g.2317747C>T							p.E96E	NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)	2	331	-		Ovarian(82;0.11)	96			PX.		A4D207|Q96I67	Silent	SNP	ENST00000222990.3	37	c.288G>A	CCDS5331.1																																																																																				0.582	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			3	53	0	0	0	0	3	53				
TTYH3	80727	broad.mit.edu	37	7	2687663	2687663	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr7:2687663C>T	ENST00000258796.7	+	5	902	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	TTYH3_ENST00000407643.1_Intron|TTYH3_ENST00000403167.1_Missense_Mutation_p.R62C|TTYH3_ENST00000477439.1_3'UTR	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	233					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		TGGCCTCATCCGCAGCTCCAA	0.682																																						uc003smp.2		NA																	0					0						c.(697-699)CGC>TGC		tweety 3							101.0	84.0	90.0					7																	2687663		2203	4300	6503	SO:0001583	missense	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2687663C>T		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.697C>T	7.37:g.2687663C>T	ENSP00000258796:p.Arg233Cys					TTYH3_uc010ksn.2_Intron|TTYH3_uc003smq.2_Missense_Mutation_p.R62C	p.R233C	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	5	884	+		Ovarian(82;0.0112)	233			Cytoplasmic (Potential).		A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	c.697C>T	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556289	0.86231	.	.	ENSG00000136295	ENST00000258796;ENST00000403167	T;T	0.17854	2.25;2.25	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.41282	0.1152	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.32693	-0.9897	10	0.54805	T	0.06	.	12.3372	0.55073	0.2148:0.7852:0.0:0.0	.	62;233	Q9C0H2-3;Q9C0H2	.;TTYH3_HUMAN	C	233;62	ENSP00000258796:R233C;ENSP00000385015:R62C	ENSP00000258796:R233C	R	+	1	0	TTYH3	2654189	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.603000	0.67619	2.121000	0.65114	0.561000	0.74099	CGC		0.682	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		8	51	0	0	0	0	8	51				
ZAN	7455	broad.mit.edu	37	7	100345764	100345764	+	RNA	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr7:100345764C>T	ENST00000348028.3	+	0	1193				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTCCAGTTTGCCGTGGTAGGC	0.587																																						uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(1027-1029)GCC>GTC		zonadhesin isoform 3							59.0	62.0	61.0					7																	100345764		1991	4177	6168			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100345764C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100345764C>T						ZAN_uc003uwk.2_Missense_Mutation_p.A343V|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.A343V	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		10	1193	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		343			MAM 2.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.1028C>T		.	.	.	.	.	.	.	.	.	.	C	2.874	-0.233247	0.05983	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.01647	4.71;4.71;4.71	4.72	-1.42	0.08913	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	1.389070	0.05020	N	0.472558	T	0.01029	0.0034	N	0.03608	-0.345	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.14023	0.006;0.01	T	0.48399	-0.9039	10	0.25751	T	0.34	.	5.2951	0.15749	0.0:0.2187:0.171:0.6102	.	343;343	F5H0T8;Q9Y493	.;ZAN_HUMAN	V	343	ENSP00000445943:A343V;ENSP00000445091:A343V;ENSP00000444427:A343V	ENSP00000423579:A343V	A	+	2	0	ZAN	100183700	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	0.021000	0.13489	-0.324000	0.08589	-0.263000	0.10527	GCC		0.587	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	21	0	0	0	0	3	21				
ZC3HC1	51530	broad.mit.edu	37	7	129663445	129663445	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr7:129663445C>T	ENST00000358303.4	-	8	1223	c.1139G>A	c.(1138-1140)cGa>cAa	p.R380Q	RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000360708.5_Intron|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R337Q|RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.R359Q	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	380					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TCCCATGCTTCGGGTCACTGG	0.617																																					Melanoma(115;540 1606 16325 28853 48167)	uc003vpi.2		NA																	0					0						c.(1138-1140)CGA>CAA		zinc finger, C3HC type 1							125.0	105.0	112.0					7																	129663445		2203	4300	6503	SO:0001583	missense	51530				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	g.chr7:129663445C>T	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.1139G>A	7.37:g.129663445C>T	ENSP00000351052:p.Arg380Gln					ZC3HC1_uc003vph.2_Missense_Mutation_p.R224Q|ZC3HC1_uc010lma.2_Intron	p.R380Q	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN			8	1166	-	Melanoma(18;0.0435)		380					A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	c.1139G>A	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501828	0.85176	.	.	ENSG00000091732	ENST00000358303;ENST00000311873;ENST00000481503	T;T;T	0.71461	1.1;1.13;-0.57	5.62	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.81341	0.4802	M	0.64997	1.995	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82694	-0.0330	10	0.62326	D	0.03	-9.1616	13.296	0.60296	0.0:0.9234:0.0:0.0766	.	380;337	Q86WB0;C9J0I9	NIPA_HUMAN;.	Q	380;359;337	ENSP00000351052:R380Q;ENSP00000309301:R359Q;ENSP00000418533:R337Q	ENSP00000309301:R359Q	R	-	2	0	ZC3HC1	129450681	1.000000	0.71417	0.995000	0.50966	0.802000	0.45316	5.412000	0.66392	1.391000	0.46566	-0.140000	0.14226	CGA		0.617	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478		19	99	0	0	0	0	19	99				
TBXAS1	6916	broad.mit.edu	37	7	139661761	139661761	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr7:139661761C>T	ENST00000336425.5	+	13	1252	c.863C>T	c.(862-864)tCt>tTt	p.S288F	TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000425687.1_Missense_Mutation_p.S221F|TBXAS1_ENST00000416849.2_Missense_Mutation_p.S335F|TBXAS1_ENST00000448866.1_Missense_Mutation_p.S288F|TBXAS1_ENST00000411653.1_Missense_Mutation_p.S288F|TBXAS1_ENST00000458722.1_Missense_Mutation_p.S334F|TBXAS1_ENST00000414508.2_Missense_Mutation_p.S289F|TBXAS1_ENST00000436047.2_Missense_Mutation_p.S289F|TBXAS1_ENST00000263552.6_Missense_Mutation_p.S289F			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	288					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	GCCCGACATTCTGCAAGTCCC	0.522																																						uc011kqv.1		NA																	0				ovary(2)|breast(1)	3						c.(1003-1005)TCT>TTT		thromboxane A synthase 1, platelet isoform							93.0	83.0	86.0					7																	139661761		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139661761C>T	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.863C>T	7.37:g.139661761C>T	ENSP00000338087:p.Ser288Phe					TBXAS1_uc003vvh.2_Missense_Mutation_p.S289F|TBXAS1_uc010lne.2_Missense_Mutation_p.S221F|TBXAS1_uc011kqu.1_Missense_Mutation_p.S240F|TBXAS1_uc003vvi.2_Missense_Mutation_p.S289F|TBXAS1_uc003vvj.2_Missense_Mutation_p.S289F|TBXAS1_uc011kqw.1_Missense_Mutation_p.S269F	p.S335F	NM_001130966	NP_001124438	P24557	THAS_HUMAN			10	1168	+	Melanoma(164;0.0142)		288			Lumenal (Potential).		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37	c.1004C>T		.	.	.	.	.	.	.	.	.	.	C	19.02	3.745186	0.69418	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.59	1.45	0.22620	.	2.378160	0.01222	N	0.008122	T	0.78723	0.4328	L	0.53249	1.67	0.09310	N	1	P;D;P;D;P;P;P	0.60575	0.916;0.978;0.91;0.988;0.932;0.916;0.916	P;D;P;P;P;P;P	0.63703	0.776;0.917;0.738;0.844;0.648;0.726;0.726	T	0.60591	-0.7233	10	0.66056	D	0.02	.	11.1357	0.48373	0.0:0.5738:0.3599:0.0663	.	269;335;240;221;289;289;288	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	F	221;289;288;335;289;289;288;334;288	ENSP00000388736:S221F;ENSP00000263552:S289F;ENSP00000338087:S288F;ENSP00000389414:S335F;ENSP00000392361:S289F;ENSP00000392702:S289F;ENSP00000402536:S288F;ENSP00000411274:S334F;ENSP00000411326:S288F	ENSP00000263552:S289F	S	+	2	0	TBXAS1	139308230	0.000000	0.05858	0.001000	0.08648	0.480000	0.33159	0.483000	0.22292	0.286000	0.22352	0.655000	0.94253	TCT		0.522	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			9	26	0	0	0	0	9	26				
UNC5D	137970	broad.mit.edu	37	8	35579850	35579850	+	Missense_Mutation	SNP	G	G	A	rs149536132		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr8:35579850G>A	ENST00000404895.2	+	9	1568	c.1240G>A	c.(1240-1242)Gtc>Atc	p.V414I	UNC5D_ENST00000420357.1_Missense_Mutation_p.V347I|UNC5D_ENST00000453357.2_Missense_Mutation_p.V409I|UNC5D_ENST00000416672.1_Missense_Mutation_p.V419I|UNC5D_ENST00000287272.2_Missense_Mutation_p.V358I|UNC5D_ENST00000449677.1_5'Flank	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	414					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.V409F(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGGCGTGGACGTCATTGACTC	0.557																																						uc003xjr.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1240-1242)GTC>ATC		unc-5 homolog D precursor		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	264.0	222.0	237.0		1240	5.7	1.0	8	dbSNP_134	237	1,8599	1.2+/-3.3	0,1,4299	no	missense	UNC5D	NM_080872.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	414/954	35579850	2,13004	2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35579850G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1240G>A	8.37:g.35579850G>A	ENSP00000385143:p.Val414Ile					UNC5D_uc003xjs.1_Missense_Mutation_p.V409I|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Missense_Mutation_p.V172I	p.V414I	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1568	+			414			Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1240G>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436200	0.43224	2.27E-4	1.16E-4	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.53206	0.66;1.15;1.07;0.66;0.63	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	N	0.25426	0.745	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.985;0.991;0.979	T	0.37244	-0.9714	10	0.02654	T	1	-27.0347	19.4428	0.94827	0.0:0.0:1.0:0.0	.	419;409;414	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	I	414;347;358;419;409	ENSP00000385143:V414I;ENSP00000392739:V347I;ENSP00000287272:V358I;ENSP00000412652:V419I;ENSP00000394303:V409I	ENSP00000287272:V358I	V	+	1	0	UNC5D	35699392	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.625000	0.83145	2.694000	0.91930	0.650000	0.86243	GTC		0.557	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			25	144	0	0	0	0	25	144				
RALYL	138046	broad.mit.edu	37	8	85799988	85799988	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr8:85799988G>A	ENST00000521268.1	+	8	1940	c.835G>A	c.(835-837)Gat>Aat	p.D279N	RALYL_ENST00000521695.1_Missense_Mutation_p.D279N|RALYL_ENST00000522455.1_Missense_Mutation_p.D279N|RALYL_ENST00000523850.1_Missense_Mutation_p.D206N|RALYL_ENST00000518566.1_Missense_Mutation_p.D268N|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000517638.1_Missense_Mutation_p.D292N	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	279							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GGAGGACTTCGATGAAGATGG	0.458																																						uc003ycq.3		NA																	0				ovary(1)	1						c.(835-837)GAT>AAT		RALY RNA binding protein-like isoform 2							140.0	143.0	142.0					8																	85799988		1998	4170	6168	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85799988G>A		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.835G>A	8.37:g.85799988G>A	ENSP00000430367:p.Asp279Asn					RALYL_uc003ycr.3_Missense_Mutation_p.D279N|RALYL_uc003ycs.3_Missense_Mutation_p.D279N|RALYL_uc010lzy.2_Missense_Mutation_p.D268N|RALYL_uc003yct.3_Missense_Mutation_p.D292N|RALYL_uc003ycu.3_Missense_Mutation_p.D206N|RALYL_uc003ycv.3_Intron	p.D279N	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN			9	1251	+			279					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.835G>A	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345420	0.82022	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850	T;T;T;T;T;T	0.16457	2.73;2.73;2.73;2.72;2.71;2.34	5.46	4.56	0.56223	.	0.185459	0.45126	D	0.000395	T	0.20495	0.0493	L	0.57536	1.79	0.80722	D	1	P;P;P;P	0.47106	0.553;0.89;0.89;0.553	B;B;B;B	0.41135	0.088;0.348;0.348;0.088	T	0.02126	-1.1209	10	0.37606	T	0.19	-10.9816	15.3477	0.74355	0.0:0.0:0.8592:0.1408	.	268;206;292;279	B3KT61;Q86SE5-2;G3V129;Q86SE5	.;.;.;RALYL_HUMAN	N	279;279;279;268;292;206	ENSP00000430394:D279N;ENSP00000428667:D279N;ENSP00000430367:D279N;ENSP00000430065:D268N;ENSP00000430128:D292N;ENSP00000428807:D206N	ENSP00000430128:D292N	D	+	1	0	RALYL	85962543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.147000	0.89628	1.259000	0.44117	0.561000	0.74099	GAT		0.458	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			12	72	0	0	0	0	12	72				
CYP11B2	1585	broad.mit.edu	37	8	143999037	143999037	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr8:143999037C>G	ENST00000323110.2	-	1	222	c.220G>C	c.(220-222)Gag>Cag	p.E74Q		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	74					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GGCCCCAGCTCCTGGAAGGTC	0.637									Familial Hyperaldosteronism type I																													uc003yxk.1		NA																	0					0						c.(220-222)GAG>CAG		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						74.0	70.0	71.0					8																	143999037		2203	4300	6503	SO:0001583	missense	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143999037C>G	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.220G>C	8.37:g.143999037C>G	ENSP00000325822:p.Glu74Gln						p.E74Q	NM_000498	NP_000489	P19099	C11B2_HUMAN			1	223	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		74					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.220G>C	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	13.12	2.142424	0.37825	.	.	ENSG00000179142	ENST00000323110	T	0.69926	-0.44	3.31	2.37	0.29283	.	0.367744	0.19489	N	0.113034	T	0.54303	0.1850	L	0.53561	1.675	0.24162	N	0.995659	B	0.32968	0.392	B	0.33960	0.173	T	0.37572	-0.9700	10	0.23891	T	0.37	.	4.5532	0.12124	0.0:0.6375:0.234:0.1285	.	74	P19099	C11B2_HUMAN	Q	74	ENSP00000325822:E74Q	ENSP00000325822:E74Q	E	-	1	0	CYP11B2	143996039	0.961000	0.32948	1.000000	0.80357	0.872000	0.50106	0.164000	0.16542	0.690000	0.31570	0.558000	0.71614	GAG		0.637	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			12	58	0	0	0	0	12	58				
ABCA1	19	broad.mit.edu	37	9	107558478	107558478	+	Splice_Site	SNP	C	C	G			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr9:107558478C>G	ENST00000374736.3	-	39	5632	c.5238G>C	c.(5236-5238)ggG>ggC	p.G1746G		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1746				Missing (in Ref. 7; AAD49852). {ECO:0000305}.	apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TGATTGACCACCTGTTGAGAC	0.512																																						uc004bcl.2		NA																	0				large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(5236-5238)GGG>GGC		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						115.0	105.0	109.0					9																	107558478		2203	4300	6503	SO:0001630	splice_region_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107558478C>G	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5238-1G>C	9.37:g.107558478C>G							p.G1746G	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	39	5551	-			1746	Missing (in Ref. 7; AAD49852).		Helical; (Potential).		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.5238G>C	CCDS6762.1																																																																																				0.512	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	Silent	24	25	0	0	0	0	24	25				
TIMP1	7076	broad.mit.edu	37	X	47442865	47442865	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:47442865G>A	ENST00000218388.4	+	2	221	c.51G>A	c.(49-51)ctG>ctA	p.L17L	SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000377017.1_Intron|TIMP1_ENST00000377018.2_5'UTR|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000456754.2_Silent_p.L17L	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	17					aging (GO:0007568)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of trophoblast cell migration (GO:1901164)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell proliferation (GO:0008284)|regulation of integrin-mediated signaling pathway (GO:2001044)|response to cytokine (GO:0034097)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	cytokine activity (GO:0005125)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|large_intestine(2)	3						TGCTGTGGCTGATAGCCCCCA	0.652																																						uc004dif.2		NA																	0					0						c.(49-51)CTG>CTA		tissue inhibitor of metalloproteinase 1							97.0	80.0	86.0					X																	47442865		2203	4300	6503	SO:0001819	synonymous_variant	7076				erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chrX:47442865G>A		CCDS14281.1	Xp11.3-p11.23	2008-07-29	2005-08-08		ENSG00000102265	ENSG00000102265			11820	protein-coding gene	gene with protein product		305370	"""tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)"""	TIMP, CLGI			Standard	XM_005272645		Approved	EPO	uc004dif.3	P01033	OTTHUMG00000021447	ENST00000218388.4:c.51G>A	X.37:g.47442865G>A						SYN1_uc004did.2_Intron|SYN1_uc004die.2_Intron|TIMP1_uc011mlr.1_5'UTR|TIMP1_uc010nht.1_5'UTR	p.L17L	NM_003254	NP_003245	P01033	TIMP1_HUMAN			2	243	+			17					Q14252|Q9UCU1	Silent	SNP	ENST00000218388.4	37	c.51G>A	CCDS14281.1																																																																																				0.652	TIMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056423.1	NM_003254		6	64	0	0	0	0	6	64				
ZC3H12B	340554	broad.mit.edu	37	X	64722774	64722774	+	Silent	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:64722774G>A	ENST00000338957.4	+	5	2263	c.2196G>A	c.(2194-2196)ccG>ccA	p.P732P	ZC3H12B_ENST00000423889.3_Silent_p.P721P	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	732							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGGGACCCGCTGCCCTGTA	0.577																																						uc010nko.2		NA																	0				lung(1)|kidney(1)|pancreas(1)	3						c.(2161-2163)CCG>CCA		zinc finger CCCH-type containing 12B							53.0	55.0	54.0					X																	64722774		2192	4285	6477	SO:0001819	synonymous_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722774G>A	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.2196G>A	X.37:g.64722774G>A							p.P721P	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			5	2172	+			721					B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	37	c.2163G>A	CCDS48131.2																																																																																				0.577	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		14	27	0	0	0	0	14	27				
CYSLTR1	10800	broad.mit.edu	37	X	77529009	77529009	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:77529009G>A	ENST00000373304.3	-	3	527	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	79					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TAGACCACACGGAGAGGCAGT	0.423																																						uc004edb.2		NA																	0				ovary(1)	1						c.(235-237)CGT>TGT		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						73.0	58.0	63.0					X																	77529009		2203	4300	6503	SO:0001583	missense	10800				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77529009G>A	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.235C>T	X.37:g.77529009G>A	ENSP00000362401:p.Arg79Cys					CYSLTR1_uc010nma.2_Missense_Mutation_p.R79C|CYSLTR1_uc010nmb.2_Missense_Mutation_p.R79C	p.R79C	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN			3	635	-			79			Extracellular (Potential).		B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	c.235C>T	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	g	18.11	3.551133	0.65311	.	.	ENSG00000173198	ENST00000373304	T	0.72167	-0.63	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	M	0.88570	2.965	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.88382	0.3002	10	0.66056	D	0.02	.	13.8027	0.63212	0.0:0.0:1.0:0.0	.	79	Q9Y271	CLTR1_HUMAN	C	79	ENSP00000362401:R79C	ENSP00000362401:R79C	R	-	1	0	CYSLTR1	77415665	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.687000	0.84139	1.823000	0.53134	0.452000	0.29995	CGT		0.423	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			7	54	0	0	0	0	7	54				
TAF7L	54457	broad.mit.edu	37	X	100538563	100538563	+	Missense_Mutation	SNP	G	G	A	rs145455495		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:100538563G>A	ENST00000372907.3	-	4	423	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	TAF7L_ENST00000324762.6_Missense_Mutation_p.R52C|TAF7L_ENST00000356784.1_Missense_Mutation_p.R52C|TAF7L_ENST00000372905.2_Missense_Mutation_p.R52C	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	138					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACTGCATGGCGCCCATCAGCT	0.398																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.2		NA																	0				breast(1)	1						c.(412-414)CGC>TGC		TATA box binding protein-associated factor, RNA		G	CYS/ARG,CYS/ARG	1,3834		0,1,1631,571	148.0	146.0	147.0		154,412	3.8	0.0	X	dbSNP_134	147	0,6728		0,0,2428,1872	no	missense,missense	TAF7L	NM_001168474.1,NM_024885.3	180,180	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging	52/377,138/463	100538563	1,10562	2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100538563G>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.412C>T	X.37:g.100538563G>A	ENSP00000361998:p.Arg138Cys					TAF7L_uc004eha.2_Missense_Mutation_p.R52C|TAF7L_uc004ehc.1_Missense_Mutation_p.R52C	p.R138C	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN			4	424	-			138					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.412C>T	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.916048	0.33815	2.61E-4	0.0	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.38560	3.65;1.13;1.13;3.65	5.66	3.85	0.44370	TAFII55 protein, conserved region (1);	0.780170	0.11273	N	0.581216	T	0.68384	0.2995	M	0.90595	3.13	0.53005	D	0.999963	D;P	0.89917	1.0;0.647	D;B	0.79784	0.993;0.111	T	0.63373	-0.6652	10	0.62326	D	0.03	-1.6297	8.3642	0.32376	0.08:0.0:0.7662:0.1538	.	138;52	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	C	138;52;52;52	ENSP00000361998:R138C;ENSP00000361996:R52C;ENSP00000320283:R52C;ENSP00000349235:R52C	ENSP00000320283:R52C	R	-	1	0	TAF7L	100425219	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	4.850000	0.62889	0.519000	0.28406	0.594000	0.82650	CGC		0.398	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			95	165	0	0	0	0	95	165				
DOCK11	139818	broad.mit.edu	37	X	117699986	117699986	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:117699986C>T	ENST00000276202.7	+	8	775	c.712C>T	c.(712-714)Cat>Tat	p.H238Y	DOCK11_ENST00000276204.6_Missense_Mutation_p.H238Y	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	238	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AATGCGCCGTCATGCTTTTGA	0.333																																						uc004eqp.2		NA																	0				ovary(3)	3						c.(712-714)CAT>TAT		dedicator of cytokinesis 11							132.0	131.0	132.0					X																	117699986		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117699986C>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.712C>T	X.37:g.117699986C>T	ENSP00000276202:p.His238Tyr					DOCK11_uc004eqq.2_Missense_Mutation_p.H4Y	p.H238Y	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			8	775	+			238			PH.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.712C>T	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	3.166	-0.170970	0.06421	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.75477	-0.94;-0.94	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.104150	0.64402	D	0.000004	T	0.47783	0.1464	N	0.05280	-0.08	0.31422	N	0.674237	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.004	T	0.47947	-0.9077	10	0.13108	T	0.6	-9.4783	6.3388	0.21310	0.3136:0.5989:0.0:0.0875	.	238;238	A6NIW2;Q5JSL3	.;DOC11_HUMAN	Y	238	ENSP00000276204:H238Y;ENSP00000276202:H238Y	ENSP00000276202:H238Y	H	+	1	0	DOCK11	117584014	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.798000	0.27014	2.296000	0.77279	0.422000	0.28245	CAT		0.333	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		20	185	0	0	0	0	20	185				
GRIA3	2892	broad.mit.edu	37	X	122561966	122561966	+	Silent	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:122561966C>T	ENST00000371251.1	+	12	2104	c.2052C>T	c.(2050-2052)tcC>tcT	p.S684S	GRIA3_ENST00000264357.5_Silent_p.S684S|GRIA3_ENST00000542149.1_Silent_p.S684S|GRIA3_ENST00000371256.5_Silent_p.S684S			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	684					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CCCTGGACTCCGGTTCAACAA	0.423																																						uc004etq.3		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2050-2052)TCC>TCT		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						98.0	89.0	92.0					X																	122561966		2203	4300	6503	SO:0001819	synonymous_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122561966C>T	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2052C>T	X.37:g.122561966C>T						GRIA3_uc004etr.3_Silent_p.S684S|GRIA3_uc004ets.3_RNA	p.S684S	NM_007325	NP_015564	P42263	GRIA3_HUMAN			13	2345	+			684			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	c.2052C>T	CCDS14604.1																																																																																				0.423	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		6	82	0	0	0	0	6	82				
TENM1	10178	broad.mit.edu	37	X	124097537	124097537	+	Silent	SNP	A	A	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:124097537A>T	ENST00000371130.3	-	1	129	c.66T>A	c.(64-66)gcT>gcA	p.A22A	TENM1_ENST00000422452.2_Silent_p.A22A	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	22	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AACTGGTGTAAGCTAGATCCA	0.443																																						uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(64-66)GCT>GCA		odz, odd Oz/ten-m homolog 1 isoform 3							273.0	243.0	253.0					X																	124097537		2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:124097537A>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.66T>A	X.37:g.124097537A>T						ODZ1_uc011muj.1_Silent_p.A22A|ODZ1_uc010nqy.2_Silent_p.A22A	p.A22A	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			1	130	-			22			Teneurin N-terminal.|Cytoplasmic (Potential).		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.66T>A	CCDS14609.1																																																																																				0.443	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		32	251	0	0	0	0	32	251				
HS6ST2	90161	broad.mit.edu	37	X	132091167	132091167	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:132091167G>A	ENST00000370836.2	-	3	1031	c.616C>T	c.(616-618)Ccc>Tcc	p.P206S	HS6ST2_ENST00000521489.1_Missense_Mutation_p.P206S|HS6ST2_ENST00000370833.2_Missense_Mutation_p.P60S	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	206					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TTGTAGCGGGGCACGAACCTG	0.652																																						uc011mve.1		NA																	0					0						c.(616-618)CCC>TCC		heparan sulfate 6-O-sulfotransferase 2 isoform							33.0	38.0	36.0					X																	132091167		2100	4202	6302	SO:0001583	missense	90161					integral to membrane	sulfotransferase activity	g.chrX:132091167G>A	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.616C>T	X.37:g.132091167G>A	ENSP00000359873:p.Pro206Ser					HS6ST2_uc011mvb.1_Missense_Mutation_p.P60S|HS6ST2_uc011mvc.1_Missense_Mutation_p.P60S|HS6ST2_uc011mvd.1_Missense_Mutation_p.P206S	p.P206S	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN			3	1032	-	Acute lymphoblastic leukemia(192;0.000127)		206			Lumenal (Potential).		B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	ENST00000370836.2	37	c.616C>T	CCDS48169.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896672	0.52121	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000370833;ENST00000319809	T;T;T;T	0.75704	-0.96;-0.44;-0.44;-0.96	5.31	4.4	0.53042	.	0.052258	0.85682	D	0.000000	T	0.61874	0.2382	N	0.24115	0.695	0.80722	D	1	B;D	0.53151	0.172;0.958	B;B	0.42386	0.015;0.386	T	0.62310	-0.6881	10	0.26408	T	0.33	-6.6558	15.318	0.74095	0.0:0.1517:0.8483:0.0	.	206;206	Q96MM7;E9PDY5	H6ST2_HUMAN;.	S	60;206;206;60;47	ENSP00000359874:P60S;ENSP00000359873:P206S;ENSP00000429473:P206S;ENSP00000359870:P60S	ENSP00000324617:P47S	P	-	1	0	HS6ST2	131918849	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.830000	0.39131	2.212000	0.71576	0.529000	0.55759	CCC		0.652	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		15	43	0	0	0	0	15	43				
MAGEA10	4109	broad.mit.edu	37	X	151303808	151303808	+	Silent	SNP	C	C	T	rs139926957	byFrequency	TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:151303808C>T	ENST00000370323.4	-	4	601	c.285G>A	c.(283-285)tcG>tcA	p.S95S	MAGEA10_ENST00000244096.3_Silent_p.S95S|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	95						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCAACGACCGAGGGGGAGG	0.542													C|||	1	0.000264901	0.0	0.0	3775	,	,		12953	0.0		0.001	False		,,,				2504	0.0					uc004ffk.2		NA																	0					0						c.(283-285)TCG>TCA		melanoma antigen family A, 10		C	,,	0,3835		0,0,0,1632,571	172.0	175.0	174.0		285,,285	-4.7	0.0	X	dbSNP_134	174	1,6727		0,0,1,2428,1871	no	coding-synonymous,intron,coding-synonymous	MAGEA10,MAGEA10-MAGEA5	NM_001011543.1,NM_001204811.1,NM_021048.3	,,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	,,	95/370,,95/370	151303808	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	4109							g.chrX:151303808C>T		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.285G>A	X.37:g.151303808C>T						MAGEA10_uc004ffl.2_Silent_p.S95S	p.S95S	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN			5	693	-	Acute lymphoblastic leukemia(192;6.56e-05)		95						Silent	SNP	ENST00000370323.4	37	c.285G>A	CCDS14705.1																																																																																				0.542	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		15	264	0	0	0	0	15	264				
RENBP	5973	broad.mit.edu	37	X	153207481	153207481	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:153207481C>T	ENST00000393700.3	-	7	771	c.691G>A	c.(691-693)Gat>Aat	p.D231N	RENBP_ENST00000369997.3_Missense_Mutation_p.D217N|RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000412763.1_Intron	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	231					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GCTTGTCCATCCCTCTACCGG	0.617																																						uc004fjo.1		NA																	0				ovary(1)|pancreas(1)	2						c.(691-693)GAT>AAT		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						98.0	81.0	87.0					X																	153207481		2203	4300	6503	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153207481C>T		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.691G>A	X.37:g.153207481C>T	ENSP00000377303:p.Asp231Asn					RENBP_uc011mzh.1_Intron	p.D231N	NM_002910	NP_002901	P51606	RENBP_HUMAN			7	861	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		231					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.691G>A	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	c	13.34	2.206566	0.39003	.	.	ENSG00000102032	ENST00000393700;ENST00000369997	T;T	0.30981	1.51;1.51	4.85	3.98	0.46160	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.179165	0.46442	D	0.000286	T	0.23611	0.0571	L	0.45581	1.43	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.06285	-1.0835	10	0.25106	T	0.35	-5.5142	7.8386	0.29384	0.0:0.8072:0.0:0.1927	.	231	P51606	RENBP_HUMAN	N	231;217	ENSP00000377303:D231N;ENSP00000359014:D217N	ENSP00000359014:D217N	D	-	1	0	RENBP	152860675	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	1.715000	0.37971	1.985000	0.57927	0.377000	0.23210	GAT		0.617	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		7	107	0	0	0	0	7	107				
GDI1	2664	broad.mit.edu	37	X	153670046	153670046	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chrX:153670046G>A	ENST00000447750.2	+	8	1231	c.896G>A	c.(895-897)cGc>cAc	p.R299H	FAM50A_ENST00000393600.3_5'Flank	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	299					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGTTATCCGCATCATCTGT	0.572																																						uc004fli.3		NA																	0					0						c.(895-897)CGC>CAC		GDP dissociation inhibitor 1							167.0	133.0	145.0					X																	153670046		2203	4300	6503	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153670046G>A	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.896G>A	X.37:g.153670046G>A	ENSP00000394071:p.Arg299His					GDI1_uc011mzo.1_3'UTR|GDI1_uc004flj.2_5'Flank|FAM50A_uc004fll.3_5'Flank	p.R299H	NM_001493	NP_001484	P31150	GDIA_HUMAN			8	1238	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		299					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.896G>A	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756756	0.69648	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	D	0.91996	-2.95	5.43	5.43	0.79202	.	0.051734	0.85682	D	0.000000	D	0.96803	0.8956	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97523	1.0074	10	0.66056	D	0.02	-11.7217	15.5715	0.76341	0.0:0.0:1.0:0.0	.	299	P31150	GDIA_HUMAN	H	299;283	ENSP00000394071:R299H	ENSP00000358756:R283H	R	+	2	0	GDI1	153323240	1.000000	0.71417	0.962000	0.40283	0.010000	0.07245	7.977000	0.88081	2.272000	0.75746	0.529000	0.55759	CGC		0.572	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		7	90	0	0	0	0	7	90				
NOTCH2	4853	broad.mit.edu	37	1	120466368	120466368	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr1:120466368delT	ENST00000256646.2	-	26	4970	c.4751delA	c.(4750-4752)cagfs	p.Q1584fs	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1584	Negative regulatory region (NRR).				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTTCCCCCTGGGAGTCCCG	0.542			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0		p.Q1584*(1)		lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(4750-4752)CAGfs		notch 2 preproprotein							86.0	84.0	85.0					1																	120466368		2203	4300	6503	SO:0001589	frameshift_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120466368delT	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4751delA	1.37:g.120466368delT	ENSP00000256646:p.Gln1584fs						p.Q1584fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	26	5007	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1584			Negative regulatory region (NRR).|Extracellular (Potential).		Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.4751delA	CCDS908.1																																																																																				0.542	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		19	47	NA	NA	NA	NA	19	47	---	---	---	---
SAV1	60485	broad.mit.edu	37	14	51132173	51132173	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr14:51132173delT	ENST00000324679.4	-	2	622	c.259delA	c.(259-261)agafs	p.R88fs	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	88					hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CTTTCTCTTCTCATTATTTCA	0.393																																						uc001wyg.1		NA																	0				breast(1)	1						c.(259-261)AGAfs		WW45 protein							59.0	47.0	51.0					14																	51132173		2203	4299	6502	SO:0001589	frameshift_variant	60485				hippo signaling cascade	cytoplasm|nucleus	identical protein binding	g.chr14:51132173delT	AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"""WW domain-containing adaptor 45"""	607203	"""salvador homolog 1 (Drosophila)"""			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.259delA	14.37:g.51132173delT	ENSP00000324729:p.Arg88fs					SAV1_uc001wyh.1_Frame_Shift_Del_p.R87fs	p.R87fs	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN			3	420	-	all_epithelial(31;0.000611)|Breast(41;0.0333)		87					A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Frame_Shift_Del	DEL	ENST00000324679.4	37	c.259delA	CCDS9701.1																																																																																				0.393	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			11	18	NA	NA	NA	NA	11	18	---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39329085	39329086	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr19:39329085_39329086insA	ENST00000221419.5	-	10	1874_1875	c.1508_1509insT	c.(1507-1509)ctgfs	p.L503fs	AC104534.3_ENST00000594769.1_Frame_Shift_Ins_p.C120fs|HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.L370fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	503	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGAAGAAGTGCAGCACGTTGCT	0.599																																						uc010xul.1		NA																	0					0						c.(1507-1509)CTGfs		heterogeneous nuclear ribonucleoprotein L																																				SO:0001589	frameshift_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39329085_39329086insA	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1509dupT	19.37:g.39329086_39329086dupA	ENSP00000221419:p.Leu503fs					HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Frame_Shift_Ins_p.L159fs|HNRNPL_uc002ojo.1_Frame_Shift_Ins_p.L81fs|HNRNPL_uc002ojk.2_Frame_Shift_Ins_p.L159fs|HNRNPL_uc002ojl.2_Frame_Shift_Ins_p.L159fs|HNRNPL_uc010xum.1_Frame_Shift_Ins_p.L370fs	p.L503fs	NM_001533	NP_001524	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		10	1519_1520	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		503					A6ND69|A6NIT8|Q9H3P3	Frame_Shift_Ins	INS	ENST00000221419.5	37	c.1508_1509insT	CCDS33015.1																																																																																				0.599	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			8	27	NA	NA	NA	NA	8	27	---	---	---	---
GPRIN3	285513	broad.mit.edu	37	4	90170269	90170270	+	In_Frame_Ins	INS	-	-	CTG			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:90170269_90170270insCTG	ENST00000609438.1	-	2	1510_1511	c.992_993insCAG	c.(991-993)aga>agCAGa	p.330_331insS	GPRIN3_ENST00000333209.4_In_Frame_Ins_p.330_331insS	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	330								p.R331S(1)|p.R331T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGGAGACGGATCTGCTCTCGAC	0.545																																						uc003hsm.1		NA																	2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(3)	3						c.(991-993)AGA>AGCAGA		G protein-regulated inducer of neurite outgrowth																																				SO:0001652	inframe_insertion	285513							g.chr4:90170269_90170270insCTG	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.990_992dupCAG	4.37:g.90170270_90170272dupCTG	ENSP00000476603:p.Ser331_Ser332dup						p.330_331insS	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1511_1512	-		Hepatocellular(203;0.114)	330_331					Q8IVE4	In_Frame_Ins	INS	ENST00000609438.1	37	c.992_993insCAG	CCDS34030.1																																																																																				0.545	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		12	68	NA	NA	NA	NA	12	68	---	---	---	---
ADH1B	125	broad.mit.edu	37	4	100237412	100237413	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr4:100237412_100237413delCT	ENST00000305046.8	-	4	373_374	c.306_307delAG	c.(304-309)agagttfs	p.RV102fs	ADH1B_ENST00000504498.1_5'Flank|ADH1B_ENST00000394887.3_Frame_Shift_Del_p.RV62fs			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	102					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TTTTTACAAACTCTGCATTTTC	0.386																																						uc003hus.3		NA																	0				ovary(1)|breast(1)	2						c.(304-309)AGAGTTfs		class I alcohol dehydrogenase, beta subunit	Fomepizole(DB01213)|NADH(DB00157)																																			SO:0001589	frameshift_variant	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100237412_100237413delCT	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.306_307delAG	4.37:g.100237414_100237415delCT	ENSP00000306606:p.Arg102fs					ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Frame_Shift_Del_p.R62fs|ADH1B_uc011ceh.1_Splice_Site_p.M3_splice|ADH1B_uc011cei.1_Frame_Shift_Del_p.R62fs	p.R102fs	NM_000668	NP_000659	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	4	390_391	-			102_103					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Frame_Shift_Del	DEL	ENST00000305046.8	37	c.306_307delAG	CCDS34033.1																																																																																				0.386	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		11	57	NA	NA	NA	NA	11	57	---	---	---	---
HIST1H1B	3009	broad.mit.edu	37	6	27835120	27835130	+	Frame_Shift_Del	DEL	GCCAAAGAAAG	GCCAAAGAAAG	-	rs537612548		TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:27835120_27835130delGCCAAAGAAAG	ENST00000331442.3	-	1	229_239	c.178_188delCTTTCTTTGGC	c.(178-189)ctttctttggcafs	p.LSLA60fs		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	60	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CTTAAGGGCTGCCAAAGAAAGGCCATTGCGC	0.611																																						uc003njx.2		NA																	0				large_intestine(2)|lung(1)	3						c.(178-189)CTTTCTTTGGCAfs		histone cluster 1, H1b																																				SO:0001589	frameshift_variant	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27835120_27835130delGCCAAAGAAAG	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.178_188delCTTTCTTTGGC	6.37:g.27835120_27835130delGCCAAAGAAAG	ENSP00000330074:p.Leu60fs						p.L60fs	NM_005322	NP_005313	P16401	H15_HUMAN			1	230_240	-			60_63			H15.		Q14529|Q3MJ42	Frame_Shift_Del	DEL	ENST00000331442.3	37	c.178_188delCTTTCTTTGGC	CCDS4635.1																																																																																				0.611	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		9	146	NA	NA	NA	NA	9	146	---	---	---	---
CDC40	51362	broad.mit.edu	37	6	110501792	110501793	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CN-6018-01A-11D-1683-08	TCGA-CN-6018-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	33815edd-bb4f-4f05-bc82-94eafe423652	f3b1312a-5ef1-4312-811e-223f4f4cb997	g.chr6:110501792_110501793delTC	ENST00000368932.1	+	2	246_247	c.145_146delTC	c.(145-147)tctfs	p.S49fs	WASF1_ENST00000392586.1_5'Flank|WASF1_ENST00000392589.1_5'Flank|WASF1_ENST00000392587.2_5'Flank|CDC40_ENST00000368930.1_Frame_Shift_Del_p.S49fs|WASF1_ENST00000359451.2_5'Flank|CDC40_ENST00000307731.1_Frame_Shift_Del_p.S49fs|WASF1_ENST00000392588.1_5'Flank			O60508	PRP17_HUMAN	cell division cycle 40	49					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		ATCAAAGCCGTCTCTAGCAGTG	0.554																																						uc003pua.2		NA																	0					0						c.(145-147)TCTfs		cell division cycle 40 homolog																																				SO:0001589	frameshift_variant	51362				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		g.chr6:110501792_110501793delTC	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.145_146delTC	6.37:g.110501794_110501795delTC	ENSP00000357928:p.Ser49fs					WASF1_uc003ptv.1_5'Flank|WASF1_uc003ptw.1_5'Flank|WASF1_uc003ptx.1_5'Flank|WASF1_uc003pty.1_5'Flank|WASF1_uc003ptz.1_5'Flank	p.S49fs	NM_015891	NP_056975	O60508	PRP17_HUMAN		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)	1	169_170	+		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	49					B2RBC5|O75471|Q5SRN0|Q9UPG1	Frame_Shift_Del	DEL	ENST00000368932.1	37	c.145_146delTC	CCDS5081.1																																																																																				0.554	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		8	41	NA	NA	NA	NA	8	41	---	---	---	---
