#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
TNFRSF25	8718	broad.mit.edu	37	1	6524760	6524760	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:6524760C>G	ENST00000356876.3	-	4	402	c.315G>C	c.(313-315)gaG>gaC	p.E105D	TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.E60D|TNFRSF25_ENST00000377782.3_Missense_Mutation_p.E105D|TNFRSF25_ENST00000351748.3_Intron|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.E105D	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	105					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CTGAACAGTTCTCCAGCGCCA	0.607																																						uc001ane.2		NA																	0				central_nervous_system(2)|breast(1)	3						c.(313-315)GAG>GAC		tumor necrosis factor receptor superfamily,							38.0	40.0	39.0					1																	6524760		2203	4300	6503	SO:0001583	missense	8718				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:6524760C>G	U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"""Tumor necrosis factor receptor superfamily"""	11910	protein-coding gene	gene with protein product		603366	"""tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"""	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.315G>C	1.37:g.6524760C>G	ENSP00000349341:p.Glu105Asp					TNFRSF25_uc001ana.2_Intron|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_5'UTR|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Missense_Mutation_p.E105D|TNFRSF25_uc001ang.2_Missense_Mutation_p.E60D|TNFRSF25_uc001anh.2_Missense_Mutation_p.E105D|TNFRSF25_uc001ani.1_Missense_Mutation_p.E105D	p.E105D	NM_003790	NP_003781	Q93038	TNR25_HUMAN		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)	4	403	-	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	105			TNFR-Cys 2.|Extracellular (Potential).		B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Missense_Mutation	SNP	ENST00000356876.3	37	c.315G>C	CCDS71.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.322897	0.60634	.	.	ENSG00000215788	ENST00000356876;ENST00000377782;ENST00000351959;ENST00000348333	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	5.5	5.5	0.81552	TNFR/CD27/30/40/95 cysteine-rich region (3);	2.551920	0.02287	U	0.069978	T	0.73946	0.3652	L	0.50333	1.59	0.31334	N	0.684511	P;P;B;P	0.43094	0.799;0.646;0.336;0.514	B;B;B;B	0.41691	0.364;0.213;0.275;0.115	T	0.60642	-0.7223	10	0.17832	T	0.49	-10.3759	12.6444	0.56725	0.0:0.8339:0.1661:0.0	.	105;60;105;105	Q93038-11;Q93038-9;Q93038-10;Q93038	.;.;.;TNR25_HUMAN	D	105;105;105;60	ENSP00000349341:E105D;ENSP00000367013:E105D;ENSP00000337713:E105D;ENSP00000314451:E60D	ENSP00000314451:E60D	E	-	3	2	TNFRSF25	6447347	0.890000	0.30428	0.999000	0.59377	0.907000	0.53573	1.473000	0.35387	2.553000	0.86117	0.637000	0.83480	GAG		0.607	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002259.1	NM_148965		17	24	0	0	0	0	17	24				
BAI2	576	broad.mit.edu	37	1	32207757	32207757	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:32207757C>T	ENST00000373658.3	-	8	1655	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	BAI2_ENST00000440175.2_Silent_p.G80G|BAI2_ENST00000373655.2_Silent_p.G438G|BAI2_ENST00000398538.1_Silent_p.G426G|BAI2_ENST00000527361.1_Silent_p.G438G|BAI2_ENST00000398542.1_Silent_p.G371G|BAI2_ENST00000398556.3_Silent_p.G386G|BAI2_ENST00000257070.4_Silent_p.G438G|BAI2_ENST00000398547.1_Silent_p.G371G	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	438	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCTGTTGGGTCCCATTGGCAC	0.662																																						uc001btn.2		NA																	0				lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.(1312-1314)GGG>GGA		brain-specific angiogenesis inhibitor 2							42.0	46.0	44.0					1																	32207757		2203	4300	6503	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32207757C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1314G>A	1.37:g.32207757C>T						BAI2_uc010ogo.1_Silent_p.G80G|BAI2_uc010ogp.1_Silent_p.G371G|BAI2_uc010ogq.1_Silent_p.G438G|BAI2_uc001bto.2_Silent_p.G438G|BAI2_uc001btq.1_Silent_p.G371G|BAI2_uc010ogr.1_Silent_p.G371G	p.G438G	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	8	1668	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	438			TSP type-1 3.|Extracellular (Potential).		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.1314G>A	CCDS346.2																																																																																				0.662	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		18	30	0	0	0	0	18	30				
LEPR	3953	broad.mit.edu	37	1	66070790	66070790	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:66070790G>C	ENST00000349533.6	+	11	1658	c.1473G>C	c.(1471-1473)caG>caC	p.Q491H	LEPR_ENST00000344610.8_Missense_Mutation_p.Q491H|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.Q491H|LEPR_ENST00000371060.3_Missense_Mutation_p.Q491H|LEPR_ENST00000371059.3_Missense_Mutation_p.Q491H	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	28					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCTATTTGCAGAGTGATGGTT	0.368																																						uc001dci.2		NA																	0				skin(1)	1						c.(1471-1473)CAG>CAC		leptin receptor isoform 1							186.0	175.0	179.0					1																	66070790		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66070790G>C	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1473G>C	1.37:g.66070790G>C	ENSP00000330393:p.Gln491His					LEPR_uc001dcg.2_Missense_Mutation_p.Q491H|LEPR_uc001dch.2_Missense_Mutation_p.Q491H|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.Q491H|LEPR_uc001dck.2_Missense_Mutation_p.Q491H	p.Q491H	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	11	1675	+			491			Extracellular (Potential).		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.1473G>C	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.474040	0.26423	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	4.54	2.66	0.31614	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.423410	0.25549	N	0.029913	T	0.44008	0.1273	M	0.78223	2.4	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.993	D;D;D	0.70716	0.914;0.97;0.938	T	0.45585	-0.9251	10	0.72032	D	0.01	-1.7777	7.6931	0.28579	0.3309:0.0:0.6691:0.0	.	491;491;491	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	H	491	ENSP00000340884:Q491H;ENSP00000330393:Q491H;ENSP00000360099:Q491H;ENSP00000360098:Q491H;ENSP00000360097:Q491H	ENSP00000340884:Q491H	Q	+	3	2	LEPR	65843378	1.000000	0.71417	0.723000	0.30687	0.099000	0.18886	3.425000	0.52771	0.470000	0.27294	-0.384000	0.06662	CAG		0.368	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		25	61	0	0	0	0	25	61				
UBL4B	164153	broad.mit.edu	37	1	110655410	110655410	+	Missense_Mutation	SNP	C	C	T	rs372349264		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:110655410C>T	ENST00000334179.3	+	1	349	c.254C>T	c.(253-255)cCg>cTg	p.P85L		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	85						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCCCACCAGCCGCAGACCCAG	0.577																																						uc001dzc.2		NA																	0				ovary(1)	1						c.(253-255)CCG>CTG		ubiquitin-like 4B		C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	64.0	69.0	68.0		254	2.9	0.0	1		68	0,8600		0,0,4300	no	missense	UBL4B	NM_203412.1	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	85/175	110655410	1,13005	2203	4300	6503	SO:0001583	missense	164153					cytoplasm		g.chr1:110655410C>T		CCDS820.1	1p13.3	2013-09-24			ENSG00000186150	ENSG00000186150			32309	protein-coding gene	gene with protein product		611127				16872915	Standard	NM_203412		Approved	FLJ25690	uc001dzc.3	Q8N7F7	OTTHUMG00000166989	ENST00000334179.3:c.254C>T	1.37:g.110655410C>T	ENSP00000334044:p.Pro85Leu						p.P85L	NM_203412	NP_981957	Q8N7F7	UBL4B_HUMAN		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	349	+		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	85						Missense_Mutation	SNP	ENST00000334179.3	37	c.254C>T	CCDS820.1	.	.	.	.	.	.	.	.	.	.	C	3.410	-0.120353	0.06838	2.27E-4	0.0	ENSG00000186150	ENST00000334179	.	.	.	2.88	2.88	0.33553	.	0.910646	0.09305	N	0.820396	T	0.09335	0.0230	N	0.24115	0.695	0.09310	N	1	B	0.32731	0.382	B	0.23018	0.043	T	0.13899	-1.0492	9	0.30078	T	0.28	-13.3142	10.666	0.45731	0.0:1.0:0.0:0.0	.	85	Q8N7F7	UBL4B_HUMAN	L	85	.	ENSP00000334044:P85L	P	+	2	0	UBL4B	110456933	0.008000	0.16893	0.001000	0.08648	0.019000	0.09904	0.445000	0.21677	1.402000	0.46780	0.561000	0.74099	CCG		0.577	UBL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392303.1	NM_203412		14	36	0	0	0	0	14	36				
PIP5K1A	8394	broad.mit.edu	37	1	151204248	151204248	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:151204248C>G	ENST00000368888.4	+	5	761	c.339C>G	c.(337-339)ttC>ttG	p.F113L	PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.F101L|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.F100L|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.F101L	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	113	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCAAGATTTCTACGTGGTTG	0.483																																					Pancreas(80;36 1443 2325 16095 21302)	uc001exj.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(337-339)TTC>TTG		phosphatidylinositol-4-phosphate 5-kinase, type							178.0	152.0	161.0					1																	151204248		2203	4300	6503	SO:0001583	missense	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151204248C>G	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.339C>G	1.37:g.151204248C>G	ENSP00000357883:p.Phe113Leu					PIP5K1A_uc001exi.2_Missense_Mutation_p.F100L|PIP5K1A_uc010pcu.1_Missense_Mutation_p.F101L|PIP5K1A_uc001exk.2_Missense_Mutation_p.F100L|PIP5K1A_uc010pcv.1_5'Flank	p.F113L	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		5	791	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		113			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	c.339C>G	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310299	0.81358	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888;ENST00000418435	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	5.44	3.55	0.40652	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.57755	0.2075	H	0.98786	4.33	0.80722	D	1	P;P;P;D	0.57899	0.843;0.95;0.756;0.981	P;P;P;P	0.56648	0.714;0.694;0.598;0.803	T	0.75033	-0.3460	9	.	.	.	.	12.1061	0.53813	0.0:0.8576:0.0:0.1424	.	101;100;113;100	Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	L	100;101;101;100;113;77	ENSP00000271663:F100L;ENSP00000386432:F101L;ENSP00000415648:F101L;ENSP00000357885:F100L;ENSP00000357883:F113L;ENSP00000414632:F77L	.	F	+	3	2	PIP5K1A	149470872	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.287000	0.33284	1.554000	0.49487	0.644000	0.83932	TTC		0.483	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		27	54	0	0	0	0	27	54				
CELF3	11189	broad.mit.edu	37	1	151688428	151688428	+	Silent	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:151688428C>G	ENST00000290583.4	-	1	862	c.69G>C	c.(67-69)ctG>ctC	p.L23L	RIIAD1_ENST00000326413.3_Intron|CELF3_ENST00000290585.4_Silent_p.L23L|AL589765.1_ENST00000442233.2_Intron	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	23	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						AGATGGGCTTCAGGTCCTTCT	0.597																																						uc001eys.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(67-69)CTG>CTC		trinucleotide repeat containing 4							104.0	92.0	96.0					1																	151688428		2203	4300	6503	SO:0001819	synonymous_variant	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151688428C>G	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.69G>C	1.37:g.151688428C>G						CELF3_uc001eyr.2_Silent_p.L23L|CELF3_uc009wmy.2_Silent_p.L23L|CELF3_uc009wmx.1_Silent_p.L23L|CELF3_uc001eyt.2_5'UTR|CELF3_uc010pdi.1_Silent_p.L23L|C1orf230_uc001eyu.2_Intron	p.L23L	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN			1	863	-			23			RRM 1.		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	37	c.69G>C	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	C	7.375	0.627534	0.14257	.	.	ENSG00000159409	ENST00000420342	.	.	.	4.88	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.2224	8.0739	0.30706	0.181:0.644:0.175:0.0	.	.	.	.	S	25	.	.	X	-	2	2	CELF3	149955052	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.989000	0.29629	1.248000	0.43934	0.478000	0.44815	TGA		0.597	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		4	28	0	0	0	0	4	28				
OR6K2	81448	broad.mit.edu	37	1	158669812	158669812	+	Missense_Mutation	SNP	C	C	T	rs200416710		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:158669812C>T	ENST00000359610.2	-	1	674	c.631G>A	c.(631-633)Gct>Act	p.A211T		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGCATCACAGCTGTAATAATC	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		22333	0.001		0.0	False		,,,				2504	0.0					uc001fsu.1		NA																	0				pancreas(1)	1						c.(631-633)GCT>ACT		olfactory receptor, family 6, subfamily K,							166.0	133.0	144.0					1																	158669812		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669812C>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.631G>A	1.37:g.158669812C>T	ENSP00000352626:p.Ala211Thr						p.A211T	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	631	-	all_hematologic(112;0.0378)		211			Helical; Name=5; (Potential).		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.631G>A	CCDS30902.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.434	-0.902151	0.02453	.	.	ENSG00000196171	ENST00000359610	T	0.36699	1.24	4.94	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	D	0.000892	T	0.02342	0.0072	N	0.00991	-1.07	0.09310	N	1	B	0.19331	0.035	B	0.28305	0.088	T	0.45585	-0.9251	10	0.02654	T	1	-7.7792	3.2614	0.06850	0.3102:0.4542:0.1507:0.0849	.	211	Q8NGY2	OR6K2_HUMAN	T	211	ENSP00000352626:A211T	ENSP00000352626:A211T	A	-	1	0	OR6K2	156936436	0.000000	0.05858	0.066000	0.19879	0.894000	0.52154	-0.444000	0.06854	0.654000	0.30846	0.655000	0.94253	GCT		0.502	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		19	42	0	0	0	0	19	42				
CADM3	57863	broad.mit.edu	37	1	159162470	159162470	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:159162470C>G	ENST00000368125.4	+	3	489	c.332C>G	c.(331-333)tCa>tGa	p.S111*	CADM3_ENST00000368124.4_Nonsense_Mutation_p.S145*	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	111	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TACACCTGCTCAATCTTCACT	0.537																																						uc001ftl.2		NA																	0				ovary(2)	2						c.(331-333)TCA>TGA		cell adhesion molecule 3 isoform 2							197.0	151.0	167.0					1																	159162470		2203	4300	6503	SO:0001587	stop_gained	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159162470C>G	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.332C>G	1.37:g.159162470C>G	ENSP00000357107:p.Ser111*					CADM3_uc009wsx.1_Nonsense_Mutation_p.S145*|CADM3_uc009wsy.1_Nonsense_Mutation_p.S111*|CADM3_uc001ftk.2_Nonsense_Mutation_p.S145*	p.S111*	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			3	474	+	all_hematologic(112;0.0429)		111			Ig-like V-type.|Extracellular (Potential).		Q8IZQ9|Q9NVJ5|Q9UJP1	Nonsense_Mutation	SNP	ENST00000368125.4	37	c.332C>G	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	C	37	5.990018	0.97179	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	.	.	.	5.22	4.32	0.51571	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	11.6283	0.51158	0.0:0.9147:0.0:0.0853	.	.	.	.	X	145;111;111	.	ENSP00000357106:S145X	S	+	2	0	CADM3	157429094	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.441000	0.66569	1.433000	0.47394	-0.145000	0.13849	TCA		0.537	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		26	45	0	0	0	0	26	45				
HMCN1	83872	broad.mit.edu	37	1	185815164	185815164	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:185815164G>T	ENST00000271588.4	+	2	504	c.275G>T	c.(274-276)gGc>gTc	p.G92V	HMCN1_ENST00000367492.2_Missense_Mutation_p.G92V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	92	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACAGAAATTGGCCCAGTGACA	0.368																																						uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(274-276)GGC>GTC		hemicentin 1 precursor							104.0	103.0	103.0					1																	185815164		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185815164G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.275G>T	1.37:g.185815164G>T	ENSP00000271588:p.Gly92Val						p.G92V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			2	504	+			92			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.275G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297429	0.81025	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.10960	2.82;2.82	5.48	5.48	0.80851	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.49532	-0.8930	10	0.87932	D	0	.	16.27	0.82612	0.0:0.0:1.0:0.0	.	92	Q96RW7	HMCN1_HUMAN	V	92	ENSP00000271588:G92V;ENSP00000356462:G92V	ENSP00000271588:G92V	G	+	2	0	HMCN1	184081787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.903000	0.87398	2.562000	0.86427	0.563000	0.77884	GGC		0.368	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		7	35	1	0	1.13e-05	1.21e-05	7	35				
OPTC	26254	broad.mit.edu	37	1	203467831	203467831	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:203467831C>T	ENST00000367222.2	+	4	509	c.393C>T	c.(391-393)tgC>tgT	p.C131C		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	131	Cys-rich.|LRRNT.				negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCCTGGTCTGCGTGTGCCTCG	0.582																																						uc001gzu.1		NA																	0					0						c.(391-393)TGC>TGT		opticin precursor							149.0	116.0	127.0					1																	203467831		2203	4300	6503	SO:0001819	synonymous_variant	26254					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:203467831C>T	AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.393C>T	1.37:g.203467831C>T							p.C131C	NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		4	509	+			131			LRRNT.|Cys-rich.		Q5T2G4	Silent	SNP	ENST00000367222.2	37	c.393C>T	CCDS1439.1																																																																																				0.582	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359		3	51	0	0	0	0	3	51				
IRF6	3664	broad.mit.edu	37	1	209969813	209969813	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:209969813G>A	ENST00000367021.3	-	4	431	c.259C>T	c.(259-261)Ctc>Ttc	p.L87F	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	87					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTCTTATTGAGAGCACAGCGC	0.527										HNSCC(57;0.16)																												uc001hhq.1		NA																	0				ovary(2)	2						c.(259-261)CTC>TTC		interferon regulatory factor 6							115.0	96.0	102.0					1																	209969813		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209969813G>A	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.259C>T	1.37:g.209969813G>A	ENSP00000355988:p.Leu87Phe	HNSCC(57;0.16)				IRF6_uc010psm.1_5'UTR|IRF6_uc009xct.1_Missense_Mutation_p.L87F	p.L87F	NM_006147	NP_006138	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	4	522	-			87			IRF tryptophan pentad repeat.		B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.259C>T	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206287	0.79127	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.99098	-5.42;-5.42	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.99515	0.9827	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98395	1.0565	9	.	.	.	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	87	O14896	IRF6_HUMAN	F	87	ENSP00000355988:L87F;ENSP00000403855:L87F	.	L	-	1	0	IRF6	208036436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.186000	0.72026	2.652000	0.90054	0.655000	0.94253	CTC		0.527	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		18	35	0	0	0	0	18	35				
MRPL55	128308	broad.mit.edu	37	1	228295553	228295553	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:228295553G>A	ENST00000411464.2	-	4	837	c.44C>T	c.(43-45)aCc>aTc	p.T15I	MRPL55_ENST00000366744.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366736.1_Missense_Mutation_p.T15I|MRPL55_ENST00000430433.1_Missense_Mutation_p.T51I|MRPL55_ENST00000348259.5_Missense_Mutation_p.T15I|MRPL55_ENST00000336520.3_Missense_Mutation_p.T15I|MRPL55_ENST00000366742.1_Missense_Mutation_p.T15I|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366733.1_Missense_Mutation_p.T15I|MRPL55_ENST00000295008.4_Missense_Mutation_p.T15I|MRPL55_ENST00000366741.1_Missense_Mutation_p.T15I|MRPL55_ENST00000391867.3_Missense_Mutation_p.T15I|MRPL55_ENST00000336300.5_Missense_Mutation_p.T15I|MRPL55_ENST00000366739.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366746.3_Missense_Mutation_p.T15I|C1orf35_ENST00000472617.1_5'Flank|MRPL55_ENST00000366734.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366738.1_Missense_Mutation_p.T51I|MRPL55_ENST00000366747.3_Missense_Mutation_p.T15I|MRPL55_ENST00000366735.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366740.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366732.1_Missense_Mutation_p.T12I|MRPL55_ENST00000366731.5_Missense_Mutation_p.T51I			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	15					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				GGCCTTCACGGTGCTCTGCCT	0.617																																						uc001hry.2		NA																	0				central_nervous_system(1)	1						c.(43-45)ACC>ATC		mitochondrial ribosomal protein L55 isoform a							50.0	47.0	48.0					1																	228295553		2203	4300	6503	SO:0001583	missense	128308				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr1:228295553G>A	AK056987	CCDS1567.1, CCDS44325.1	1q42.13	2012-09-13			ENSG00000162910	ENSG00000162910		"""Mitochondrial ribosomal proteins / large subunits"""	16686	protein-coding gene	gene with protein product		611859					Standard	NM_181463		Approved		uc001hrz.4	Q7Z7F7	OTTHUMG00000037965	ENST00000411464.2:c.44C>T	1.37:g.228295553G>A	ENSP00000401737:p.Thr15Ile					MRPL55_uc001hrz.3_Missense_Mutation_p.T51I|MRPL55_uc009xex.2_Missense_Mutation_p.T15I|MRPL55_uc001hsa.3_Missense_Mutation_p.T15I|MRPL55_uc001hsb.3_Missense_Mutation_p.T15I|MRPL55_uc001hsc.3_Missense_Mutation_p.T15I|MRPL55_uc001hsd.3_Missense_Mutation_p.T15I|MRPL55_uc001hse.3_Missense_Mutation_p.T15I|MRPL55_uc001hsf.3_Missense_Mutation_p.T15I|MRPL55_uc001hsg.3_Missense_Mutation_p.T15I	p.T15I	NM_181465	NP_852130	Q7Z7F7	RM55_HUMAN			2	788	-		Prostate(94;0.0405)	15					Q5TBY3|Q5TBY6|Q6UWI8	Missense_Mutation	SNP	ENST00000411464.2	37	c.44C>T	CCDS1567.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268984	0.23221	.	.	ENSG00000162910	ENST00000366732;ENST00000366733;ENST00000366734;ENST00000366735;ENST00000366736;ENST00000366738;ENST00000366741;ENST00000366740;ENST00000366739;ENST00000366742;ENST00000366744;ENST00000348259;ENST00000366747;ENST00000366746;ENST00000295008;ENST00000336520;ENST00000336300;ENST00000430433;ENST00000391867;ENST00000366731;ENST00000411464;ENST00000457264	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	4.19	-2.42	0.06542	.	2.028360	0.02502	N	0.090623	T	0.18383	0.0441	N	0.22421	0.69	0.09310	N	1	B;B	0.13594	0.008;0.0	B;B	0.09377	0.004;0.003	T	0.09975	-1.0650	10	0.19590	T	0.45	0.2048	4.5521	0.12117	0.3956:0.3276:0.2768:0.0	.	51;15	Q7Z7F7-2;Q7Z7F7	.;RM55_HUMAN	I	12;15;15;15;15;51;15;15;15;15;15;15;15;15;15;15;15;51;15;51;15;15	ENSP00000355693:T12I;ENSP00000355694:T15I;ENSP00000355695:T15I;ENSP00000355696:T15I;ENSP00000355697:T15I;ENSP00000355699:T51I;ENSP00000355702:T15I;ENSP00000355701:T15I;ENSP00000355700:T15I;ENSP00000355703:T15I;ENSP00000355705:T15I;ENSP00000338189:T15I;ENSP00000355708:T15I;ENSP00000355707:T15I;ENSP00000295008:T15I;ENSP00000337342:T15I;ENSP00000337361:T15I;ENSP00000403614:T51I;ENSP00000375740:T15I;ENSP00000355692:T51I;ENSP00000401737:T15I;ENSP00000409966:T15I	ENSP00000295008:T15I	T	-	2	0	MRPL55	226362176	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.000000	0.12993	-0.696000	0.05098	0.650000	0.86243	ACC		0.617	MRPL55-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092808.1	XM_059233		9	26	0	0	0	0	9	26				
LYST	1130	broad.mit.edu	37	1	235973499	235973499	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:235973499G>A	ENST00000389794.3	-	5	793	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	LYST_ENST00000536965.1_Missense_Mutation_p.R207C|LYST_ENST00000389793.2_Missense_Mutation_p.R207C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	207					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTTGCTAAGCGGTCAAGTTTA	0.413																																						uc001hxj.2		NA																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(619-621)CGC>TGC		lysosomal trafficking regulator							185.0	182.0	183.0					1																	235973499		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235973499G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.619C>T	1.37:g.235973499G>A	ENSP00000374444:p.Arg207Cys					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.R207C	p.R207C	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	794	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	207					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.619C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	4.237	0.042826	0.08196	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.13778	2.56;2.56;2.56	5.02	3.15	0.36227	.	2.001940	0.01459	N	0.015799	T	0.08670	0.0215	N	0.08118	0	0.09310	N	1	P;B	0.42078	0.77;0.001	B;B	0.39152	0.292;0.001	T	0.14699	-1.0463	10	0.66056	D	0.02	.	3.9585	0.09401	0.3007:0.0:0.5333:0.166	.	207;207	Q99698-3;Q99698	.;LYST_HUMAN	C	207	ENSP00000374444:R207C;ENSP00000374443:R207C;ENSP00000438315:R207C	ENSP00000374443:R207C	R	-	1	0	LYST	234040122	0.000000	0.05858	0.013000	0.15412	0.608000	0.37181	0.495000	0.22483	0.793000	0.33875	0.655000	0.94253	CGC		0.413	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			5	135	0	0	0	0	5	135				
OR2T33	391195	broad.mit.edu	37	1	248436971	248436971	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:248436971C>A	ENST00000318021.2	-	1	167	c.146G>T	c.(145-147)tGg>tTg	p.W49L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCGGTGGTCCCAGTGAATCAG	0.522																																						uc010pzi.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(145-147)TGG>TTG		olfactory receptor, family 2, subfamily T,							46.0	47.0	47.0					1																	248436971		2198	4289	6487	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436971C>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.146G>T	1.37:g.248436971C>A	ENSP00000324687:p.Trp49Leu						p.W49L	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	146	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		49			Cytoplasmic (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.146G>T	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	0.001	-3.197277	0.00025	.	.	ENSG00000177212	ENST00000318021	T	0.02863	4.13	2.7	-5.39	0.02664	GPCR, rhodopsin-like superfamily (1);	3.014640	0.01683	N	0.026254	T	0.00524	0.0017	N	0.00029	-2.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46219	-0.9207	10	0.02654	T	1	.	4.2048	0.10483	0.3746:0.3732:0.0:0.2522	.	49	Q8NG76	O2T33_HUMAN	L	49	ENSP00000324687:W49L	ENSP00000324687:W49L	W	-	2	0	OR2T33	246503594	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-2.237000	0.01200	-1.767000	0.01300	-0.463000	0.05309	TGG		0.522	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		18	49	1	0	1.31e-17	1.5e-17	18	49				
ITIH5	80760	broad.mit.edu	37	10	7618752	7618752	+	Missense_Mutation	SNP	G	G	A	rs547413516		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:7618752G>A	ENST00000256861.6	-	10	1720	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	ITIH5_ENST00000397145.2_Missense_Mutation_p.R548W|ITIH5_ENST00000397146.2_Missense_Mutation_p.R548W|ITIH5_ENST00000446830.2_Missense_Mutation_p.R330W|ITIH5_ENST00000298441.6_Missense_Mutation_p.R334W|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	548					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCTGAGGCCGCACAGGCACA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20788	0.001		0.0	False		,,,				2504	0.0					uc001ijq.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1642-1644)CGG>TGG		inter-alpha trypsin inhibitor heavy chain							66.0	63.0	64.0					10																	7618752		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618752G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1642C>T	10.37:g.7618752G>A	ENSP00000256861:p.Arg548Trp					ITIH5_uc001ijp.2_Missense_Mutation_p.R334W|ITIH5_uc001ijr.1_Missense_Mutation_p.R548W	p.R548W	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			10	1721	-			548					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1642C>T		.	.	.	.	.	.	.	.	.	.	C	21.6	4.173195	0.78452	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	5.41	4.47	0.54385	.	0.880038	0.10177	N	0.706378	T	0.17534	0.0421	.	.	.	0.19775	N	0.99995	D;D;D	0.60160	0.961;0.987;0.972	B;B;P	0.45138	0.191;0.28;0.471	T	0.13308	-1.0514	9	0.87932	D	0	-14.6668	11.1572	0.48495	0.1438:0.7182:0.138:0.0	.	548;548;334	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	W	548;548;334;330;548	ENSP00000256861:R548W;ENSP00000380333:R548W;ENSP00000298441:R334W;ENSP00000387969:R330W;ENSP00000380332:R548W	ENSP00000256861:R548W	R	-	1	2	ITIH5	7658758	0.569000	0.26643	0.810000	0.32431	0.029000	0.11900	0.932000	0.28884	1.281000	0.44480	-0.357000	0.07601	CGG		0.587	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		3	29	0	0	0	0	3	29				
KIAA1217	56243	broad.mit.edu	37	10	24834871	24834871	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:24834871C>T	ENST00000376454.3	+	21	5480	c.5450C>T	c.(5449-5451)tCt>tTt	p.S1817F	KIAA1217_ENST00000458595.1_Missense_Mutation_p.S1223F|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S1138F|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S1248F|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376451.2_3'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1817	Ser-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCTCTGCCCTCTTCTAGTGGT	0.512																																						uc001iru.3		NA																	0				ovary(5)|skin(2)	7						c.(5449-5451)TCT>TTT		sickle tail isoform 1							174.0	174.0	174.0					10																	24834871		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24834871C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5450C>T	10.37:g.24834871C>T	ENSP00000365637:p.Ser1817Phe					KIAA1217_uc001irs.2_Missense_Mutation_p.S1138F|KIAA1217_uc001irt.3_Missense_Mutation_p.S1183F|KIAA1217_uc010qcy.1_Missense_Mutation_p.S1248F|KIAA1217_uc010qcz.1_Missense_Mutation_p.S1223F|KIAA1217_uc001irw.2_3'UTR|KIAA1217_uc001irz.2_3'UTR|KIAA1217_uc001irx.2_3'UTR|KIAA1217_uc001iry.2_3'UTR	p.S1817F	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			21	5853	+			1817			Ser-rich.		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.5450C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780767	0.49891	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000450158	T;T;T;T	0.35973	1.28;1.28;1.74;1.38	5.53	5.53	0.82687	.	0.280765	0.32785	N	0.005655	T	0.34164	0.0888	L	0.40543	1.245	0.19775	N	0.999957	P;B;P;P	0.41569	0.547;0.275;0.755;0.547	B;B;B;B	0.41764	0.366;0.094;0.347;0.366	T	0.34625	-0.9821	10	0.59425	D	0.04	.	13.7124	0.62675	0.0:0.9261:0.0:0.0739	.	1223;1248;1817;1218	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	F	1138;1223;1817;1248;1406	ENSP00000365645:S1138F;ENSP00000392625:S1223F;ENSP00000365637:S1817F;ENSP00000365635:S1248F	ENSP00000365635:S1248F	S	+	2	0	KIAA1217	24874877	0.999000	0.42202	0.885000	0.34714	0.988000	0.76386	3.910000	0.56371	2.598000	0.87819	0.650000	0.86243	TCT		0.512	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		43	91	0	0	0	0	43	91				
ARID5B	84159	broad.mit.edu	37	10	63759861	63759861	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:63759861G>A	ENST00000279873.7	+	4	924	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	172					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GGAGGACGAGGAAGAAACGAA	0.473																																						uc001jlt.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(514-516)GAA>AAA		AT rich interactive domain 5B (MRF1-like)							80.0	72.0	75.0					10																	63759861		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63759861G>A	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.514G>A	10.37:g.63759861G>A	ENSP00000279873:p.Glu172Lys					ARID5B_uc010qil.1_Missense_Mutation_p.E172K	p.E172K	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			4	540	+	Prostate(12;0.016)|all_hematologic(501;0.215)		172					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.514G>A	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534964	0.85812	.	.	ENSG00000150347	ENST00000279873	T	0.44881	0.91	5.75	5.75	0.90469	.	0.055799	0.64402	D	0.000001	T	0.44222	0.1283	L	0.40543	1.245	0.80722	D	1	P;P	0.44734	0.827;0.842	B;B	0.44133	0.442;0.321	T	0.37454	-0.9705	10	0.59425	D	0.04	-19.8253	19.942	0.97168	0.0:0.0:1.0:0.0	.	172;172	Q14865-3;Q14865	.;ARI5B_HUMAN	K	172	ENSP00000279873:E172K	ENSP00000279873:E172K	E	+	1	0	ARID5B	63429867	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.714000	0.92807	0.561000	0.74099	GAA		0.473	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		8	22	0	0	0	0	8	22				
ANKRD1	27063	broad.mit.edu	37	10	92678707	92678707	+	Missense_Mutation	SNP	G	G	A	rs145387010	byFrequency	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:92678707G>A	ENST00000371697.3	-	4	616	c.368C>T	c.(367-369)aCg>aTg	p.T123M		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	123					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CTTCAGAAACGTAGGCACATC	0.368													G|||	2	0.000399361	0.0015	0.0	5008	,	,		12026	0.0		0.0	False		,,,				2504	0.0					uc001khe.1		NA																	0					0						c.(367-369)ACG>ATG		cardiac ankyrin repeat protein		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	84.0	93.0	90.0		368	-2.3	0.0	10	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ANKRD1	NM_014391.2	81	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	123/320	92678707	3,13003	2203	4300	6503	SO:0001583	missense	27063				cellular lipid metabolic process|defense response|signal transduction		DNA binding	g.chr10:92678707G>A	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.368C>T	10.37:g.92678707G>A	ENSP00000360762:p.Thr123Met						p.T123M	NM_014391	NP_055206	Q15327	ANKR1_HUMAN			4	616	-		Colorectal(252;0.0475)	123					Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	c.368C>T	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	G	3.022	-0.201544	0.06219	2.27E-4	2.33E-4	ENSG00000148677	ENST00000371697	T	0.69175	-0.38	5.65	-2.32	0.06745	.	1.180770	0.05944	N	0.637544	T	0.45736	0.1357	N	0.21240	0.645	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.23190	-1.0195	10	0.39692	T	0.17	.	1.1149	0.01712	0.3298:0.1709:0.3088:0.1905	.	123	Q15327	ANKR1_HUMAN	M	123	ENSP00000360762:T123M	ENSP00000360762:T123M	T	-	2	0	ANKRD1	92668687	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.356000	0.07661	-0.286000	0.09076	-1.815000	0.00603	ACG		0.368	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391		8	35	0	0	0	0	8	35				
MGEA5	10724	broad.mit.edu	37	10	103569963	103569963	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:103569963G>A	ENST00000361464.3	-	4	853	c.458C>T	c.(457-459)aCa>aTa	p.T153I	MGEA5_ENST00000357797.5_Missense_Mutation_p.T153I|MGEA5_ENST00000370094.3_Missense_Mutation_p.T153I|MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000439817.1_Missense_Mutation_p.T153I	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	153					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		ACGTTTCAATGTGGATACTTC	0.373																																						uc001ktv.2		NA																	0				ovary(2)|skin(1)	3						c.(457-459)ACA>ATA		meningioma expressed antigen 5 (hyaluronidase)							133.0	131.0	132.0					10																	103569963		2203	4300	6503	SO:0001583	missense	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103569963G>A	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.458C>T	10.37:g.103569963G>A	ENSP00000354850:p.Thr153Ile					MGEA5_uc010qqe.1_Missense_Mutation_p.T153I|MGEA5_uc009xws.2_Missense_Mutation_p.T153I|MGEA5_uc001ktw.2_Missense_Mutation_p.T153I|MGEA5_uc009xwt.2_Intron|MGEA5_uc010qqf.1_RNA	p.T153I	NM_012215	NP_036347	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	4	901	-		Colorectal(252;0.207)	153					B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	c.458C>T	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248726	0.39797	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094;ENST00000429860	T;T;T;T	0.33216	1.42;1.49;1.43;1.48	5.9	5.9	0.94986	Glycoside hydrolase, superfamily (1);	0.047328	0.85682	D	0.000000	T	0.25158	0.0611	N	0.20881	0.62	0.80722	D	1	B;B;B;B	0.24258	0.009;0.007;0.082;0.1	B;B;B;B	0.25405	0.021;0.012;0.036;0.06	T	0.05784	-1.0864	10	0.17832	T	0.49	-6.3271	20.282	0.98514	0.0:0.0:1.0:0.0	.	153;153;153;153	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	I	153;153;153;153;101	ENSP00000409973:T153I;ENSP00000354850:T153I;ENSP00000350445:T153I;ENSP00000359112:T153I	ENSP00000350445:T153I	T	-	2	0	MGEA5	103559953	1.000000	0.71417	0.984000	0.44739	0.707000	0.40811	7.959000	0.87885	2.786000	0.95864	0.563000	0.77884	ACA		0.373	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		5	63	0	0	0	0	5	63				
TRIM8	81603	broad.mit.edu	37	10	104416918	104416918	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:104416918C>T	ENST00000302424.7	+	6	1585	c.1463C>T	c.(1462-1464)cCc>cTc	p.P488L		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	488					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAGCCCTACCCCCGCTCCGGC	0.657																																						uc001kvz.2		NA																	0				ovary(1)	1						c.(1462-1464)CCC>CTC		tripartite motif-containing 8							46.0	46.0	46.0					10																	104416918		2203	4300	6503	SO:0001583	missense	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104416918C>T	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.1463C>T	10.37:g.104416918C>T	ENSP00000302120:p.Pro488Leu						p.P488L	NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	6	1586	+		Colorectal(252;0.122)	488					A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	c.1463C>T	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500837	0.85176	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.81247	-1.47	5.43	5.43	0.79202	.	0.056491	0.64402	D	0.000001	D	0.84284	0.5438	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.86585	0.1856	10	0.87932	D	0	.	19.2308	0.93839	0.0:1.0:0.0:0.0	.	488	Q9BZR9	TRIM8_HUMAN	L	488;487	ENSP00000302120:P488L	ENSP00000302120:P488L	P	+	2	0	TRIM8	104406908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.685000	0.68204	2.558000	0.86282	0.491000	0.48974	CCC		0.657	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		10	26	0	0	0	0	10	26				
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	A	rs104894226		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:534285C>A	ENST00000451590.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.G13V|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		25	Substitution - Missense(24)|Insertion - In frame(1)	p.G13R(33)|p.G13V(10)|p.G13D(9)|p.G13S(9)|p.G13C(6)|p.G13G(1)|p.G12_G13insAG(1)	upper_aerodigestive_tract(9)|thyroid(5)|urinary_tract(5)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|thymus(1)	urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749	GRCh37	CM053285	HRAS	M	rs104894226	c.(37-39)GGT>GTT		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						89.0	83.0	85.0					11																	534285		2202	4300	6502	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534285C>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.38G>T	11.37:g.534285C>A	ENSP00000407586:p.Gly13Val	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.G13V|HRAS_uc010qvx.1_Missense_Mutation_p.G13V|HRAS_uc010qvy.1_RNA	p.G13V	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	226	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	13		G -> D (in FCSS).|G -> C (in FCSS).	GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.38G>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344392	0.61073	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	H	0.94264	3.515	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.69824	0.943;0.966	D	0.92025	0.5629	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	V	13	ENSP00000380722:G13V;ENSP00000380723:G13V;ENSP00000407586:G13V;ENSP00000388246:G13V;ENSP00000309845:G13V	ENSP00000309845:G13V	G	-	2	0	HRAS	524285	1.000000	0.71417	0.470000	0.27216	0.232000	0.25224	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		10	14	1	0	4.69e-08	5.19e-08	10	14				
MUC2	4583	broad.mit.edu	37	11	1093601	1093601	+	Missense_Mutation	SNP	G	G	A	rs375716724		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:1093601G>A	ENST00000441003.2	+	30	5447	c.5420G>A	c.(5419-5421)gGc>gAc	p.G1807D	MUC2_ENST00000333592.6_Missense_Mutation_p.G95D|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.G1763D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					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)	ACACCCACCGGCACACAGACC	0.607																																						uc001lsx.1		NA																	0				lung(1)|breast(1)	2						c.(12505-12507)GGC>GAC		mucin 2 precursor	Pranlukast(DB01411)						106.0	143.0	131.0					11																	1093601		2192	4275	6467	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1093601G>A	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.5420G>A	11.37:g.1093601G>A	ENSP00000415183:p.Gly1807Asp						p.G4169D	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)	31	12533	+		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)	4169					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.12506G>A		.	.	.	.	.	.	.	.	.	.	G	3.899	-0.022397	0.07634	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.17854	3.12;3.21;2.25	1.71	-0.639	0.11497	.	0.254805	0.16288	U	0.221059	T	0.05090	0.0136	.	.	.	0.21604	N	0.999625	B	0.02656	0.0	B	0.01281	0.0	T	0.39418	-0.9615	9	0.05833	T	0.94	.	4.1697	0.10324	0.0:0.5826:0.2458:0.1716	.	1807	E7EUV1	.	D	1807;1763;95	ENSP00000415183:G1807D;ENSP00000351956:G1763D;ENSP00000331373:G95D	ENSP00000331373:G95D	G	+	2	0	MUC2	1083601	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	-1.268000	0.02836	-0.397000	0.07691	0.195000	0.17529	GGC		0.607	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		3	23	0	0	0	0	3	23				
OR51I1	390063	broad.mit.edu	37	11	5462199	5462199	+	Silent	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:5462199G>C	ENST00000380211.1	-	1	545	c.546C>G	c.(544-546)ctC>ctG	p.L182L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	182					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCTGGATGGAGACAGTAGG	0.433																																						uc010qze.1		NA																	0				ovary(1)	1						c.(544-546)CTC>CTG		olfactory receptor, family 51, subfamily I,							86.0	81.0	83.0					11																	5462199		2201	4297	6498	SO:0001819	synonymous_variant	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462199G>C	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.546C>G	11.37:g.5462199G>C						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.L182L	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	546	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	182			Extracellular (Potential).		B9EKW2|Q6IF33	Silent	SNP	ENST00000380211.1	37	c.546C>G	CCDS31382.1																																																																																				0.433	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		14	22	0	0	0	0	14	22				
OR6A2	8590	broad.mit.edu	37	11	6816910	6816910	+	Silent	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:6816910C>G	ENST00000332601.3	-	1	218	c.30G>C	c.(28-30)gtG>gtC	p.V10V		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	10					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAAACTCACTCACTCTCCCAC	0.512																																						uc001mes.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(28-30)GTG>GTC		olfactory receptor, family 6, subfamily A,							103.0	83.0	90.0					11																	6816910		2201	4296	6497	SO:0001819	synonymous_variant	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816910C>G	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.30G>C	11.37:g.6816910C>G							p.V10V	NM_003696	NP_003687	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	230	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	10			Extracellular (Potential).		Q3MJC7|Q6IF35|Q9H206	Silent	SNP	ENST00000332601.3	37	c.30G>C	CCDS7772.1																																																																																				0.512	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		13	41	0	0	0	0	13	41				
OR10A2	341276	broad.mit.edu	37	11	6891679	6891679	+	Missense_Mutation	SNP	C	C	T	rs368896870		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:6891679C>T	ENST00000307322.4	+	1	756	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTCCTCACACCTCCTTGTTGT	0.423																																						uc001meu.1		NA																	0				breast(1)	1						c.(694-696)CTC>TTC		olfactory receptor, family 10, subfamily A,		C	PHE/LEU	1,4401	2.1+/-5.4	0,1,2200	262.0	225.0	237.0		694	3.3	1.0	11		237	0,8592		0,0,4296	no	missense	OR10A2	NM_001004460.1	22	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	232/304	6891679	1,12993	2201	4296	6497	SO:0001583	missense	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891679C>T	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.694C>T	11.37:g.6891679C>T	ENSP00000303862:p.Leu232Phe						p.L232F	NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	694	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	232			Helical; Name=6; (Potential).		B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	c.694C>T	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	c	11.53	1.666830	0.29604	2.27E-4	0.0	ENSG00000170790	ENST00000307322	T	0.50277	0.75	4.18	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000076	T	0.56775	0.2008	M	0.77712	2.385	0.35728	D	0.817721	P	0.41848	0.763	P	0.51016	0.656	T	0.67142	-0.5745	10	0.87932	D	0	.	6.6492	0.22953	0.0:0.7857:0.0:0.2143	.	232	Q9H208	O10A2_HUMAN	F	232	ENSP00000303862:L232F	ENSP00000303862:L232F	L	+	1	0	OR10A2	6848255	0.476000	0.25901	0.992000	0.48379	0.270000	0.26580	1.142000	0.31540	1.139000	0.42245	-0.141000	0.14075	CTC		0.423	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		109	46	0	0	0	0	109	46				
ZNF215	7762	broad.mit.edu	37	11	6977464	6977464	+	Missense_Mutation	SNP	G	G	A	rs139686178		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:6977464G>A	ENST00000278319.5	+	7	1844	c.1256G>A	c.(1255-1257)cGt>cAt	p.R419H	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.R419H	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	419					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TTCAACCGACGTACAAACCTT	0.408																																						uc001mey.2		NA																	0					0						c.(1255-1257)CGT>CAT		zinc finger protein 215		G	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	80.0	78.0	79.0		1256	0.4	0.0	11	dbSNP_134	79	0,8592		0,0,4296	no	missense	ZNF215	NM_013250.2	29	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	419/518	6977464	1,12993	2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977464G>A	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1256G>A	11.37:g.6977464G>A	ENSP00000278319:p.Arg419His					ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Missense_Mutation_p.R181H|ZNF215_uc001mez.1_Intron	p.R419H	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	1844	+			419			C2H2-type 2.		Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.1256G>A	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472820	0.26423	2.27E-4	0.0	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.61040	0.14;0.14	4.85	0.386	0.16254	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.393510	0.04825	N	0.437690	T	0.41236	0.1150	L	0.29908	0.895	0.09310	N	1	B	0.22604	0.072	B	0.12837	0.008	T	0.15521	-1.0434	10	0.30854	T	0.27	0.1536	2.8451	0.05540	0.3254:0.0:0.3471:0.3274	.	419	Q9UL58	ZN215_HUMAN	H	419	ENSP00000278319:R419H;ENSP00000393202:R419H	ENSP00000278319:R419H	R	+	2	0	ZNF215	6934040	0.000000	0.05858	0.000000	0.03702	0.556000	0.35491	-0.163000	0.09997	-0.014000	0.14175	0.655000	0.94253	CGT		0.408	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			20	30	0	0	0	0	20	30				
ABCC8	6833	broad.mit.edu	37	11	17428294	17428294	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:17428294C>T	ENST00000389817.3	-	26	3272	c.3204G>A	c.(3202-3204)acG>acA	p.T1068T	ABCC8_ENST00000302539.4_Silent_p.T1069T			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1068	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TGCAGAGCACCGTGAACACCA	0.602																																						uc001mnc.2		NA																	0				ovary(1)	1						c.(3202-3204)ACG>ACA		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						169.0	139.0	150.0					11																	17428294		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17428294C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3204G>A	11.37:g.17428294C>T							p.T1068T	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	26	3330	-			1068			ABC transmembrane type-1 2.|Extracellular (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.3204G>A	CCDS31437.1																																																																																				0.602	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		28	18	0	0	0	0	28	18				
CHST1	8534	broad.mit.edu	37	11	45671567	45671567	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:45671567C>T	ENST00000308064.2	-	4	1577	c.907G>A	c.(907-909)Gag>Aag	p.E303K	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	303					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCCAGGTCCTCGTAGCGCACC	0.627																																						uc001mys.1		NA																	0				skin(4)|pancreas(1)	5						c.(907-909)GAG>AAG		carbohydrate (keratan sulfate Gal-6)							78.0	72.0	74.0					11																	45671567		2203	4299	6502	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671567C>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.907G>A	11.37:g.45671567C>T	ENSP00000309270:p.Glu303Lys						p.E303K	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1578	-			303			Lumenal (Potential).		D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.907G>A	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277176	0.80580	.	.	ENSG00000175264	ENST00000308064	D	0.90261	-2.64	4.89	3.98	0.46160	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.96197	0.8760	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96571	0.9423	10	0.72032	D	0.01	-12.8172	13.103	0.59231	0.0:0.9219:0.0:0.0781	.	303	O43916	CHST1_HUMAN	K	303	ENSP00000309270:E303K	ENSP00000309270:E303K	E	-	1	0	CHST1	45628143	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.814000	0.86154	1.052000	0.40392	0.462000	0.41574	GAG		0.627	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		35	23	0	0	0	0	35	23				
OR5T1	390155	broad.mit.edu	37	11	56043262	56043262	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:56043262A>G	ENST00000313033.2	+	1	234	c.148A>G	c.(148-150)Act>Gct	p.T50A		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T50P(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTATCTATTCACTCTAATAGG	0.338																																						uc001nio.1		NA																	1	Substitution - Missense(1)		breast(1)	ovary(2)|pancreas(1)	3						c.(148-150)ACT>GCT		olfactory receptor, family 5, subfamily T,							71.0	73.0	73.0					11																	56043262		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043262A>G	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.148A>G	11.37:g.56043262A>G	ENSP00000323612:p.Thr50Ala						p.T50A	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	148	+	Esophageal squamous(21;0.00448)		50			Helical; Name=1; (Potential).		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.148A>G	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577038	0.45902	.	.	ENSG00000181698	ENST00000313033	T	0.00504	6.94	3.63	2.45	0.29901	.	0.000000	0.44902	D	0.000417	T	0.01092	0.0036	M	0.62266	1.93	0.09310	N	1	D	0.67145	0.996	D	0.64595	0.927	T	0.44742	-0.9308	10	0.72032	D	0.01	.	8.0851	0.30767	0.7993:0.0:0.0:0.2007	.	50	Q8NG75	OR5T1_HUMAN	A	50	ENSP00000323612:T50A	ENSP00000323612:T50A	T	+	1	0	OR5T1	55799838	0.003000	0.15002	0.002000	0.10522	0.031000	0.12232	1.760000	0.38430	0.532000	0.28657	0.386000	0.25728	ACT		0.338	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		19	49	0	0	0	0	19	49				
PC	5091	broad.mit.edu	37	11	66618354	66618354	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:66618354A>G	ENST00000393958.2	-	17	2357	c.2264T>C	c.(2263-2265)cTg>cCg	p.L755P	PC_ENST00000393960.1_Missense_Mutation_p.L755P|PC_ENST00000529047.1_5'Flank|PC_ENST00000528224.1_5'Flank|PC_ENST00000393955.2_Missense_Mutation_p.L755P	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	755	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGAGCTGACCAGCATGGTGCA	0.662																																						uc001ojn.1		NA																	0				ovary(2)|lung(1)|kidney(1)	4						c.(2263-2265)CTG>CCG		pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)						41.0	46.0	44.0					11																	66618354		2200	4294	6494	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66618354A>G	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2264T>C	11.37:g.66618354A>G	ENSP00000377530:p.Leu755Pro					PC_uc001ojo.1_Missense_Mutation_p.L755P|PC_uc001ojp.1_Missense_Mutation_p.L755P|PC_uc001ojm.1_5'Flank	p.L755P	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	16	2313	-		Melanoma(852;0.0525)	755			Carboxyltransferase.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.2264T>C	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.239801	0.79912	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.98747	-5.11;-5.11;-5.11	4.28	4.28	0.50868	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.171396	0.39985	N	0.001205	D	0.99450	0.9805	H	0.98936	4.375	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	D	0.98166	1.0449	10	0.87932	D	0	-14.3786	11.4475	0.50131	1.0:0.0:0.0:0.0	.	755	P11498	PYC_HUMAN	P	755	ENSP00000377527:L755P;ENSP00000377530:L755P;ENSP00000377532:L755P	ENSP00000377527:L755P	L	-	2	0	PC	66374930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.859000	0.75467	1.816000	0.52996	0.533000	0.62120	CTG		0.662	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		7	13	0	0	0	0	7	13				
ZBTB16	7704	broad.mit.edu	37	11	113934865	113934865	+	Silent	SNP	G	G	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:113934865G>T	ENST00000335953.4	+	2	1223	c.843G>T	c.(841-843)ggG>ggT	p.G281G	ZBTB16_ENST00000392996.2_Silent_p.G281G	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	281					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGGGGCCTGGGACCCCGACTC	0.647																																						uc001pop.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(841-843)GGG>GGT		promyelocytic leukemia zinc finger protein							50.0	43.0	46.0					11																	113934865		2201	4296	6497	SO:0001819	synonymous_variant	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:113934865G>T	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.843G>T	11.37:g.113934865G>T						ZBTB16_uc001poo.1_Silent_p.G281G|ZBTB16_uc001poq.2_Silent_p.G281G	p.G281G	NM_006006	NP_005997	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	2	1107	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	281					Q8TAL4	Silent	SNP	ENST00000335953.4	37	c.843G>T	CCDS8367.1																																																																																				0.647	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		7	21	1	0	0.000274275	0.000290243	7	21				
KRT78	196374	broad.mit.edu	37	12	53238435	53238435	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr12:53238435C>G	ENST00000304620.4	-	5	892	c.829G>C	c.(829-831)Gac>Cac	p.D277H	KRT78_ENST00000359499.4_Missense_Mutation_p.D167H	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	277	Linker 12.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTGCTGAAGTCCAGGTAGCGG	0.627																																						uc001sbc.1		NA																	0				ovary(2)	2						c.(829-831)GAC>CAC		keratin 5b							115.0	90.0	98.0					12																	53238435		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53238435C>G	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.829G>C	12.37:g.53238435C>G	ENSP00000306261:p.Asp277His						p.D277H	NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN			5	893	-			277			Linker 12.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.829G>C	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907792	0.52333	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860;ENST00000547110	D;D;D	0.92647	-3.08;-3.08;-3.08	5.1	4.19	0.49359	Filament (1);	.	.	.	.	D	0.96608	0.8893	H	0.94264	3.515	0.36368	D	0.861118	D	0.89917	1.0	D	0.83275	0.996	D	0.97979	1.0348	9	0.87932	D	0	.	9.4238	0.38567	0.0:0.8471:0.0:0.1529	.	277	Q8N1N4	K2C78_HUMAN	H	167;277;48;48	ENSP00000352479:D167H;ENSP00000306261:D277H;ENSP00000447817:D48H	ENSP00000306261:D277H	D	-	1	0	KRT78	51524702	1.000000	0.71417	0.978000	0.43139	0.033000	0.12548	4.047000	0.57383	2.525000	0.85131	0.563000	0.77884	GAC		0.627	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		23	39	0	0	0	0	23	39				
HECTD4	283450	broad.mit.edu	37	12	112602002	112602002	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr12:112602002G>A	ENST00000430131.2	-	72	12491	c.11346C>T	c.(11344-11346)agC>agT	p.S3782S	HECTD4_ENST00000550722.1_Silent_p.S4058S|HECTD4_ENST00000377560.5_Silent_p.S4032S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3782	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCTTGTTGGGGCTGTCAGGGC	0.652																																						uc009zwc.2		NA																	0				ovary(1)|lung(1)	2						c.(11344-11346)AGC>AGT		chromosome 12 open reading frame 51							49.0	59.0	56.0					12																	112602002		2137	4227	6364	SO:0001819	synonymous_variant	283450							g.chr12:112602002G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11346C>T	12.37:g.112602002G>A							p.S3782S	NM_001109662	NP_001103132					66	11364	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.11346C>T																																																																																					0.652	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		16	33	0	0	0	0	16	33				
FBXO21	23014	broad.mit.edu	37	12	117595803	117595803	+	Silent	SNP	C	C	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr12:117595803C>A	ENST00000330622.5	-	10	1412	c.1413G>T	c.(1411-1413)ctG>ctT	p.L471L	FBXO21_ENST00000427718.2_Silent_p.L464L			O94952	FBX21_HUMAN	F-box protein 21	471					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TGTGCTGCACCAGGTAGCCCA	0.532																																					GBM(168;452 2038 13535 17701 43680)	uc001twk.2		NA																	0				kidney(1)	1						c.(1411-1413)CTG>CTT		F-box only protein 21 isoform 1							221.0	206.0	211.0					12																	117595803		2203	4300	6503	SO:0001819	synonymous_variant	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117595803C>A	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1413G>T	12.37:g.117595803C>A						FBXO21_uc001twj.2_Silent_p.L464L|FBXO21_uc009zwq.2_Silent_p.L404L|FBXO21_uc001twl.1_Silent_p.L84L	p.L471L	NM_033624	NP_296373	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	10	1452	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		471					B3KMF0|Q5BJG0|Q9H087	Silent	SNP	ENST00000330622.5	37	c.1413G>T	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	C	9.839	1.190507	0.21954	.	.	ENSG00000135108	ENST00000550180	.	.	.	5.01	3.17	0.36434	.	.	.	.	.	T	0.54791	0.1880	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47799	-0.9089	4	.	.	.	-5.5046	6.3167	0.21194	0.0:0.5563:0.2901:0.1536	.	.	.	.	C	348	.	.	G	-	1	0	FBXO21	116080186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.764000	0.26532	0.690000	0.31570	0.650000	0.86243	GGT		0.532	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		61	166	1	0	1.08e-31	1.24e-31	61	166				
ATP12A	479	broad.mit.edu	37	13	25266965	25266965	+	Silent	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr13:25266965A>G	ENST00000381946.3	+	10	1475	c.1308A>G	c.(1306-1308)ttA>ttG	p.L436L	ATP12A_ENST00000218548.6_Silent_p.L442L			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	436					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GGGCCTCCTTATCCAAGATAA	0.483																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(1306-1308)TTA>TTG		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						215.0	210.0	212.0					13																	25266965		2203	4300	6503	SO:0001819	synonymous_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25266965A>G	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1308A>G	13.37:g.25266965A>G						ATP12A_uc010aaa.2_Silent_p.L442L	p.L436L	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	10	1495	+		Lung SC(185;0.0225)|Breast(139;0.077)	436			Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	c.1308A>G	CCDS31948.1																																																																																				0.483	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		57	147	0	0	0	0	57	147				
MTUS2	23281	broad.mit.edu	37	13	29855999	29855999	+	Missense_Mutation	SNP	G	G	A	rs377003171		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr13:29855999G>A	ENST00000431530.3	+	4	2891	c.2833G>A	c.(2833-2835)Gct>Act	p.A945T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	935	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTCCACACCCGCTGGTAAGAC	0.542																																						uc001usl.3		NA																	0					0						c.(2833-2835)GCT>ACT		hypothetical protein LOC23281 isoform a							55.0	55.0	55.0					13																	29855999		1858	4100	5958	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29855999G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2833G>A	13.37:g.29855999G>A	ENSP00000392057:p.Ala945Thr						p.A945T	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			4	2891	+			935			Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2833G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269877	0.40095	.	.	ENSG00000132938	ENST00000431530	T	0.13307	2.6	4.87	3.14	0.36123	.	0.000000	0.64402	D	0.000009	T	0.12305	0.0299	L	0.53249	1.67	0.80722	D	1	B	0.33826	0.427	B	0.29440	0.102	T	0.08432	-1.0722	9	.	.	.	.	10.3681	0.44038	0.1585:0.0:0.8415:0.0	.	935	Q5JR59	MTUS2_HUMAN	T	945	ENSP00000392057:A945T	.	A	+	1	0	MTUS2	28753999	0.930000	0.31532	0.588000	0.28705	0.308000	0.27856	1.323000	0.33701	0.775000	0.33450	0.655000	0.94253	GCT		0.542	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		16	43	0	0	0	0	16	43				
SLITRK1	114798	broad.mit.edu	37	13	84453669	84453669	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr13:84453669C>T	ENST00000377084.2	-	1	2859	c.1974G>A	c.(1972-1974)gcG>gcA	p.A658A		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	658					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TAATCTCGGACGCGGAGGAGT	0.552																																						uc001vlk.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1972-1974)GCG>GCA		slit and trk like 1 protein precursor							77.0	68.0	71.0					13																	84453669		2203	4300	6503	SO:0001819	synonymous_variant	114798					integral to membrane		g.chr13:84453669C>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1974G>A	13.37:g.84453669C>T							p.A658A	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2860	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	658			Cytoplasmic (Potential).		Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	c.1974G>A	CCDS9464.1																																																																																				0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		9	20	0	0	0	0	9	20				
SLITRK5	26050	broad.mit.edu	37	13	88329806	88329806	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr13:88329806C>T	ENST00000325089.6	+	2	2382	c.2163C>T	c.(2161-2163)ggC>ggT	p.G721G	SLITRK5_ENST00000400028.3_Silent_p.G480G	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	721					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCGGCGGCGGCGGCACGGGCG	0.652																																						uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(2161-2163)GGC>GGT		SLIT and NTRK-like family, member 5 precursor							42.0	50.0	47.0					13																	88329806		2202	4294	6496	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88329806C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2163C>T	13.37:g.88329806C>T						SLITRK5_uc010tic.1_Silent_p.G480G	p.G721G	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2382	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		721			Cytoplasmic (Potential).		B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.2163C>T	CCDS9465.1																																																																																				0.652	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			16	33	0	0	0	0	16	33				
NAA30	122830	broad.mit.edu	37	14	57857726	57857726	+	Silent	SNP	T	T	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr14:57857726T>G	ENST00000556492.1	+	2	205	c.51T>G	c.(49-51)ccT>ccG	p.P17P	NAA30_ENST00000555166.1_Intron|NAA30_ENST00000554703.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	17	Pro-rich.				metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						CACCAGCACCTCCGGCCCCGG	0.721																																						uc001xcx.3		NA																	0				skin(1)	1						c.(49-51)CCT>CCG		N-acetyltransferase 12							14.0	17.0	16.0					14																	57857726		2153	4182	6335	SO:0001819	synonymous_variant	122830					cytoplasm	peptide alpha-N-acetyltransferase activity	g.chr14:57857726T>G	AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	19844	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)"""	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.51T>G	14.37:g.57857726T>G						NAA30_uc010trk.1_Intron|NAA30_uc010aow.2_Intron	p.P17P	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN			2	205	+			17			Pro-rich.		Q0IIN2	Silent	SNP	ENST00000556492.1	37	c.51T>G	CCDS32088.1																																																																																				0.721	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		4	10	0	0	0	0	4	10				
CPSF2	53981	broad.mit.edu	37	14	92628079	92628079	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr14:92628079C>T	ENST00000298875.4	+	16	2625	c.2340C>T	c.(2338-2340)gcC>gcT	p.A780A		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	780					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|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)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AACAATATGCCATTGTATAAA	0.338																																					Ovarian(78;28 1788 18702 44111)	uc001yah.1		NA																	0				ovary(2)	2						c.(2338-2340)GCC>GCT		cleavage and polyadenylation specific factor 2							66.0	63.0	64.0					14																	92628079		2203	4298	6501	SO:0001819	synonymous_variant	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92628079C>T	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.2340C>T	14.37:g.92628079C>T							p.A780A	NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	16	2577	+		all_cancers(154;0.0766)	780					B3KME1|Q6NSJ1|Q9H3W7	Silent	SNP	ENST00000298875.4	37	c.2340C>T	CCDS9902.1																																																																																				0.338	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			4	18	0	0	0	0	4	18				
CGNL1	84952	broad.mit.edu	37	15	57731561	57731561	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:57731561C>T	ENST00000281282.5	+	2	1442	c.1364C>T	c.(1363-1365)tCa>tTa	p.S455L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	455	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CACGGGGCTTCATGTGCCCAC	0.622																																						uc002aeg.2		NA																	0				skin(6)|ovary(4)|central_nervous_system(1)	11						c.(1363-1365)TCA>TTA		cingulin-like 1							34.0	35.0	34.0					15																	57731561		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57731561C>T	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1364C>T	15.37:g.57731561C>T	ENSP00000281282:p.Ser455Leu					CGNL1_uc010bfw.2_Missense_Mutation_p.S455L	p.S455L	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	1440	+			455			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.1364C>T	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	9.144	1.014512	0.19277	.	.	ENSG00000128849	ENST00000281282	T	0.05513	3.43	4.94	-1.78	0.07957	.	.	.	.	.	T	0.03053	0.0090	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46091	-0.9216	9	0.27082	T	0.32	-0.007	8.2395	0.31652	0.4067:0.3989:0.0:0.1944	.	455	Q0VF96	CGNL1_HUMAN	L	455	ENSP00000281282:S455L	ENSP00000281282:S455L	S	+	2	0	CGNL1	55518853	0.007000	0.16637	0.003000	0.11579	0.003000	0.03518	-0.549000	0.06041	0.036000	0.15547	-0.582000	0.04134	TCA		0.622	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		13	23	0	0	0	0	13	23				
KIAA0101	9768	broad.mit.edu	37	15	64669065	64669065	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:64669065C>T	ENST00000300035.4	-	3	305	c.167G>A	c.(166-168)cGc>cAc	p.R56H	KIAA0101_ENST00000558008.1_Missense_Mutation_p.R56H|KIAA0101_ENST00000380258.2_Intron|KIAA0101_ENST00000559519.1_Missense_Mutation_p.R29H	NM_014736.4	NP_055551.1	Q15004	PAF15_HUMAN	KIAA0101	56					cellular response to DNA damage stimulus (GO:0006974)|centrosome organization (GO:0051297)|DNA replication (GO:0006260)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin binding (GO:0003682)	p.R56P(1)		central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						GGGAGTTGGGCGCACGCAAAC	0.393																																						uc002ank.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(166-168)CGC>CAC		hypothetical protein LOC9768 isoform 1							49.0	50.0	50.0					15																	64669065		2203	4300	6503	SO:0001583	missense	9768					mitochondrion|nucleus		g.chr15:64669065C>T	D14657	CCDS10193.1, CCDS32269.1	15q22	2006-06-22			ENSG00000166803	ENSG00000166803			28961	protein-coding gene	gene with protein product		610696				11313979, 16288740	Standard	NM_001029989		Approved	NS5ATP9, OEATC-1, p15(PAF)	uc002ank.3	Q15004	OTTHUMG00000133017	ENST00000300035.4:c.167G>A	15.37:g.64669065C>T	ENSP00000300035:p.Arg56His					KIAA0101_uc002anl.2_Intron	p.R56H	NM_014736	NP_055551	Q15004	PAF_HUMAN			3	299	-			56					A6NNU5|A8K3Y3|G9G694|G9G696	Missense_Mutation	SNP	ENST00000300035.4	37	c.167G>A	CCDS10193.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869197	0.91587	.	.	ENSG00000166803	ENST00000300035	T	0.58506	0.33	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.74253	0.3692	M	0.75777	2.31	0.80722	D	1	D	0.67145	0.996	P	0.61003	0.882	T	0.77289	-0.2643	10	0.72032	D	0.01	-33.3191	18.078	0.89433	0.0:1.0:0.0:0.0	.	56	Q15004	PAF_HUMAN	H	56	ENSP00000300035:R56H	ENSP00000300035:R56H	R	-	2	0	KIAA0101	62456118	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	6.852000	0.75430	2.566000	0.86566	0.585000	0.79938	CGC		0.393	KIAA0101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256603.1	NM_014736		13	28	0	0	0	0	13	28				
CEMIP	57214	broad.mit.edu	37	15	81181917	81181917	+	Missense_Mutation	SNP	G	G	A	rs199832741		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:81181917G>A	ENST00000394685.3	+	10	1489	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	KIAA1199_ENST00000356249.5_Missense_Mutation_p.R357H|KIAA1199_ENST00000220244.3_Missense_Mutation_p.R357H			Q8WUJ3	CEMIP_HUMAN		357	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						ATATGCAATCGTCCCATTGAT	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		21830	0.0		0.001	False		,,,				2504	0.0					uc002bfw.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1069-1071)CGT>CAT		KIAA1199 precursor							96.0	94.0	95.0					15																	81181917		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81181917G>A																												ENST00000394685.3:c.1070G>A	15.37:g.81181917G>A	ENSP00000378177:p.Arg357His					KIAA1199_uc010unn.1_Missense_Mutation_p.R357H	p.R357H	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			9	1330	+			357					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.1070G>A	CCDS10315.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.151	0.395989	0.11638	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.16897	2.31;2.31;2.31	5.84	3.98	0.46160	.	0.303270	0.32273	N	0.006325	T	0.14614	0.0353	L	0.56769	1.78	0.23386	N	0.997785	B	0.16166	0.016	B	0.12837	0.008	T	0.32877	-0.9890	10	0.13470	T	0.59	-23.2013	7.0073	0.24844	0.3698:0.0:0.6302:0.0	.	357	Q8WUJ3	K1199_HUMAN	H	357	ENSP00000220244:R357H;ENSP00000378177:R357H;ENSP00000348583:R357H	ENSP00000220244:R357H	R	+	2	0	KIAA1199	78968972	0.981000	0.34729	0.019000	0.16419	0.008000	0.06430	4.404000	0.59735	0.824000	0.34613	-0.142000	0.14014	CGT		0.393	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			13	41	0	0	0	0	13	41				
IFT140	9742	broad.mit.edu	37	16	1657244	1657244	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:1657244C>A	ENST00000426508.2	-	3	387	c.24G>T	c.(22-24)caG>caT	p.Q8H	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	8					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGGCTTCTATCTGGTGGTCAT	0.488																																						uc002cmb.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(22-24)CAG>CAT		intraflagellar transport 140							141.0	146.0	144.0					16																	1657244		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1657244C>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.24G>T	16.37:g.1657244C>A	ENSP00000406012:p.Gln8His						p.Q8H	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			3	386	-		Hepatocellular(780;0.219)	8					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.24G>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692325	0.30052	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T;T	0.60424	0.19;0.19	5.29	-8.89	0.00785	WD40 repeat-like-containing domain (1);	0.118844	0.64402	D	0.000016	T	0.21550	0.0519	N	0.08118	0	0.09310	N	0.999999	P	0.36027	0.533	B	0.33799	0.17	T	0.19614	-1.0300	10	0.45353	T	0.12	.	2.3154	0.04197	0.1728:0.2554:0.3754:0.1965	.	8	Q96RY7	IF140_HUMAN	H	8	ENSP00000380562:Q8H;ENSP00000406012:Q8H	ENSP00000380562:Q8H	Q	-	3	2	IFT140	1597245	0.000000	0.05858	0.012000	0.15200	0.009000	0.06853	-1.592000	0.02098	-1.584000	0.01636	-1.261000	0.01458	CAG		0.488	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		19	72	1	0	1.16e-05	1.24e-05	19	72				
NUBP2	10101	broad.mit.edu	37	16	1836869	1836869	+	Missense_Mutation	SNP	C	C	T	rs375596127		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:1836869C>T	ENST00000262302.9	+	3	367	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	NUBP2_ENST00000565134.1_Missense_Mutation_p.R83W|NUBP2_ENST00000543305.1_Intron|NUBP2_ENST00000565987.1_Missense_Mutation_p.R23W|NUBP2_ENST00000568706.1_Intron	NM_001284501.1|NM_012225.2	NP_001271430.1|NP_036357.1			nucleotide binding protein 2											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						CTTCCTGGACCGGGAGCAGAG	0.677																																						uc002cmw.3		NA																	0					0						c.(247-249)CGG>TGG		nucleotide binding protein 2 (MinD homolog, E.		C	TRP/ARG	1,4391	2.1+/-5.4	0,1,2195	34.0	35.0	35.0		247	4.3	1.0	16		35	0,8596		0,0,4298	no	missense	NUBP2	NM_012225.2	101	0,1,6493	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	83/272	1836869	1,12987	2196	4298	6494	SO:0001583	missense	10101					microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding	g.chr16:1836869C>T	AF118394	CCDS10445.1, CCDS66898.1	16p13.3	2011-05-19	2011-05-19		ENSG00000095906	ENSG00000095906			8042	protein-coding gene	gene with protein product		610779	"""nucleotide binding protein 2 (E.coli MinD like)"", ""nucleotide binding protein 2 (MinD homolog, E. coli)"""			10486206	Standard	XM_005255025		Approved	CFD1	uc002cmw.4	Q9Y5Y2	OTTHUMG00000128639	ENST00000262302.9:c.247C>T	16.37:g.1836869C>T	ENSP00000262302:p.Arg83Trp					NUBP2_uc002cmx.3_Intron|NUBP2_uc010brx.2_Missense_Mutation_p.R23W	p.R83W	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN			3	336	+			83						Missense_Mutation	SNP	ENST00000262302.9	37	c.247C>T	CCDS10445.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737498	0.49045	2.28E-4	0.0	ENSG00000095906	ENST00000262302	T	0.18810	2.19	4.35	4.35	0.52113	.	0.665580	0.15015	N	0.285352	T	0.22126	0.0533	N	0.08118	0	0.80722	D	1	D	0.56746	0.977	P	0.55303	0.773	T	0.27938	-1.0059	10	0.72032	D	0.01	0.1553	15.4252	0.75045	0.0:1.0:0.0:0.0	.	83	Q9Y5Y2	NUBP2_HUMAN	W	83	ENSP00000262302:R83W	ENSP00000262302:R83W	R	+	1	2	NUBP2	1776870	0.996000	0.38824	0.986000	0.45419	0.329000	0.28539	1.833000	0.39161	1.975000	0.57531	0.491000	0.48974	CGG		0.677	NUBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250510.1	NM_012225		8	29	0	0	0	0	8	29				
GPT2	84706	broad.mit.edu	37	16	46934667	46934667	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:46934667G>T	ENST00000340124.4	+	4	519	c.407G>T	c.(406-408)cGg>cTg	p.R136L	GPT2_ENST00000440783.2_Missense_Mutation_p.R36L	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	136					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	AAACGTGCCCGGCGGATCCTG	0.617																																						uc002eel.2		NA																	0				ovary(1)|skin(1)	2						c.(406-408)CGG>CTG		glutamic pyruvate transaminase 2 isoform 1	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						74.0	69.0	71.0					16																	46934667		2203	4300	6503	SO:0001583	missense	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46934667G>T		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.407G>T	16.37:g.46934667G>T	ENSP00000345282:p.Arg136Leu					GPT2_uc002eem.2_Missense_Mutation_p.R36L	p.R136L	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN			4	501	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	136					Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	37	c.407G>T	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528407	0.64860	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	D;D	0.90197	-2.63;-2.63	5.4	4.45	0.53987	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.107097	0.64402	D	0.000010	D	0.92916	0.7746	M	0.90369	3.11	0.58432	D	0.999996	P	0.41498	0.752	B	0.43052	0.406	D	0.93881	0.7171	10	0.72032	D	0.01	.	14.2795	0.66202	0.0711:0.0:0.9289:0.0	.	136	Q8TD30	ALAT2_HUMAN	L	136;36	ENSP00000345282:R136L;ENSP00000413804:R36L	ENSP00000345282:R136L	R	+	2	0	GPT2	45492168	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.319000	0.59197	1.526000	0.49068	-0.140000	0.14226	CGG		0.617	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			11	25	1	0	2.81e-09	3.14e-09	11	25				
SALL1	6299	broad.mit.edu	37	16	51175913	51175913	+	Missense_Mutation	SNP	C	C	T	rs529479120		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:51175913C>T	ENST00000251020.4	-	2	253	c.220G>A	c.(220-222)Gta>Ata	p.V74I	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	74					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTTTCATTTACGATTAAAACT	0.448																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(220-222)GTA>ATA		sal-like 1 isoform a							79.0	87.0	84.0					16																	51175913		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175913C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.220G>A	16.37:g.51175913C>T	ENSP00000251020:p.Val74Ile					SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	p.V74I	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	251	-		all_cancers(37;0.0322)	74					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.220G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200859	0.58234	.	.	ENSG00000103449	ENST00000251020;ENST00000457559	T	0.45276	0.9	5.26	2.28	0.28536	.	0.108661	0.64402	N	0.000007	T	0.34774	0.0909	L	0.51853	1.615	0.80722	D	1	B	0.19817	0.039	B	0.12156	0.007	T	0.11179	-1.0598	10	0.44086	T	0.13	.	10.2029	0.43097	0.0:0.7952:0.0:0.2048	.	74	Q9NSC2	SALL1_HUMAN	I	74	ENSP00000251020:V74I	ENSP00000251020:V74I	V	-	1	0	SALL1	49733414	1.000000	0.71417	0.932000	0.37286	0.977000	0.68977	2.735000	0.47377	0.228000	0.21019	0.555000	0.69702	GTA		0.448	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		27	57	0	0	0	0	27	57				
ZNF319	57567	broad.mit.edu	37	16	58031659	58031659	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:58031659C>T	ENST00000299237.2	-	2	1133	c.511G>A	c.(511-513)Gag>Aag	p.E171K	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						TCCGCTGCCTCAGCTGGCTTG	0.622																																						uc002emx.1		NA																	0					0						c.(511-513)GAG>AAG		zinc finger protein 319							71.0	84.0	79.0					16																	58031659		2198	4297	6495	SO:0001583	missense	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58031659C>T	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.511G>A	16.37:g.58031659C>T	ENSP00000299237:p.Glu171Lys						p.E171K	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN			2	1134	-			171					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.511G>A	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858654	0.32791	.	.	ENSG00000166188	ENST00000299237	T	0.02787	4.16	5.11	5.11	0.69529	.	0.154357	0.43110	D	0.000604	T	0.02533	0.0077	N	0.08118	0	0.47183	D	0.999345	B	0.25105	0.118	B	0.24541	0.054	T	0.59144	-0.7509	10	0.66056	D	0.02	-27.029	17.5199	0.87783	0.0:1.0:0.0:0.0	.	171	Q9P2F9	ZN319_HUMAN	K	171	ENSP00000299237:E171K	ENSP00000299237:E171K	E	-	1	0	ZNF319	56589160	1.000000	0.71417	0.791000	0.31998	0.119000	0.20118	5.044000	0.64214	2.377000	0.81083	0.462000	0.41574	GAG		0.622	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			46	88	0	0	0	0	46	88				
CDH11	1009	broad.mit.edu	37	16	65006889	65006889	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:65006889C>T	ENST00000268603.4	-	9	1923	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	CDH11_ENST00000394156.3_Silent_p.E436E|CDH11_ENST00000566827.1_Silent_p.E310E	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	436	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TAAAACCATCCTCTGGATTAA	0.413			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(1306-1308)GAG>GAA		cadherin 11, type 2 preproprotein							94.0	96.0	95.0					16																	65006889		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65006889C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1308G>A	16.37:g.65006889C>T		TSP Lung(24;0.17)				CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Silent_p.E436E|CDH11_uc010vin.1_Silent_p.E310E	p.E436E	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	9	1742	-		Ovarian(137;0.0973)	436			Cadherin 4.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.1308G>A	CCDS10803.1																																																																																				0.413	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		10	44	0	0	0	0	10	44				
OR1D2	4991	broad.mit.edu	37	17	2995717	2995717	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:2995717T>C	ENST00000331459.1	-	1	573	c.574A>G	c.(574-576)Att>Gtt	p.I192V		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	192					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TTAATCTGAATGTTGGAACAT	0.448																																						uc010vrb.1		NA																	0				ovary(1)	1						c.(574-576)ATT>GTT		olfactory receptor, family 1, subfamily D,							118.0	106.0	110.0					17																	2995717		2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995717T>C	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.574A>G	17.37:g.2995717T>C	ENSP00000327585:p.Ile192Val						p.I192V	NM_002548	NP_002539	P34982	OR1D2_HUMAN			1	574	-			192			Extracellular (Potential).		Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.574A>G	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	t	2.994	-0.207627	0.06180	.	.	ENSG00000184166	ENST00000331459	T	0.00107	8.72	3.21	2.12	0.27331	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	L	0.31371	0.925	0.09310	N	0.999998	B	0.12013	0.005	B	0.28139	0.086	T	0.32295	-0.9912	9	0.72032	D	0.01	.	3.8955	0.09138	0.1854:0.1132:0.0:0.7014	.	192	P34982	OR1D2_HUMAN	V	192	ENSP00000327585:I192V	ENSP00000327585:I192V	I	-	1	0	OR1D2	2942467	0.064000	0.20934	0.083000	0.20561	0.068000	0.16541	1.113000	0.31184	0.322000	0.23283	-0.425000	0.05940	ATT		0.448	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		14	39	0	0	0	0	14	39				
SPNS3	201305	broad.mit.edu	37	17	4351571	4351571	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:4351571G>A	ENST00000355530.2	+	6	1023	c.743G>A	c.(742-744)tGt>tAt	p.C248Y	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.C121Y	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	248					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						AGCAGCTGGTGTGAGGACGTC	0.612																																						uc002fxt.2		NA																	0				large_intestine(1)	1						c.(742-744)TGT>TAT		spinster homolog 3							49.0	42.0	45.0					17																	4351571		2203	4300	6503	SO:0001583	missense	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4351571G>A		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.743G>A	17.37:g.4351571G>A	ENSP00000347721:p.Cys248Tyr					SPNS3_uc002fxu.2_Missense_Mutation_p.C121Y	p.C248Y	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN			6	787	+			248					Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	c.743G>A	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.520447	0.00967	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.58210	0.35;0.35	5.42	0.852	0.18995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.628844	0.17752	N	0.163195	T	0.32194	0.0821	L	0.45581	1.43	0.33617	D	0.604349	B;B	0.06786	0.001;0.0	B;B	0.12837	0.005;0.008	T	0.31724	-0.9933	10	0.02654	T	1	-0.4293	1.7881	0.03046	0.1584:0.1349:0.4295:0.2772	.	121;248	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	Y	248;121	ENSP00000347721:C248Y;ENSP00000333207:C121Y	ENSP00000333207:C121Y	C	+	2	0	SPNS3	4298320	0.046000	0.20272	0.998000	0.56505	0.321000	0.28281	-0.027000	0.12371	0.348000	0.23949	-0.261000	0.10672	TGT		0.612	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		13	13	0	0	0	0	13	13				
KRT14	3861	broad.mit.edu	37	17	39739633	39739633	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:39739633C>T	ENST00000167586.6	-	6	1214	c.1128G>A	c.(1126-1128)atG>atA	p.M376I		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	376	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CGCTGCCAATCATCTCCTGGA	0.597																																						uc002hxf.1		NA																	0				ovary(1)	1						c.(1126-1128)ATG>ATA		keratin 14							50.0	49.0	50.0					17																	39739633		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39739633C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1128G>A	17.37:g.39739633C>T	ENSP00000167586:p.Met376Ile					JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Intron	p.M376I	NM_000526	NP_000517	P02533	K1C14_HUMAN			6	1189	-		Breast(137;0.000307)	376			Rod.|Coil 2.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.1128G>A	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	8.419	0.845959	0.16963	.	.	ENSG00000186847	ENST00000167586	D	0.87103	-2.21	5.4	2.13	0.27403	Filament (1);	0.675647	0.13583	N	0.377171	T	0.67795	0.2931	N	0.01505	-0.83	0.24242	N	0.995355	B	0.09022	0.002	B	0.17098	0.017	T	0.62272	-0.6889	10	0.87932	D	0	.	7.8799	0.29616	0.0:0.6152:0.2479:0.137	.	376	P02533	K1C14_HUMAN	I	376	ENSP00000167586:M376I	ENSP00000167586:M376I	M	-	3	0	KRT14	36993159	0.029000	0.19370	0.816000	0.32577	0.041000	0.13682	0.125000	0.15749	0.766000	0.33244	0.655000	0.94253	ATG		0.597	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		12	27	0	0	0	0	12	27				
BAIAP2	10458	broad.mit.edu	37	17	79073793	79073793	+	Silent	SNP	C	C	T	rs146015006	byFrequency	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:79073793C>T	ENST00000321300.6	+	7	648	c.555C>T	c.(553-555)acC>acT	p.T185T	BAIAP2_ENST00000416299.2_Silent_p.T48T|BAIAP2_ENST00000575245.1_Silent_p.T218T|BAIAP2_ENST00000392411.3_Silent_p.T107T|BAIAP2_ENST00000575712.1_Silent_p.T185T|BAIAP2_ENST00000321280.7_Silent_p.T185T|BAIAP2_ENST00000428708.2_Silent_p.T185T|BAIAP2_ENST00000435091.3_Silent_p.T185T	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	185	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCTACAAGACCGCACTGACAG	0.617													C|||	48	0.00958466	0.0	0.0029	5008	,	,		16432	0.0		0.0	False		,,,				2504	0.047					uc002jzg.2		NA																	0					0						c.(553-555)ACC>ACT		BAI1-associated protein 2 isoform 2		C	,,,	3,4403	6.2+/-15.9	0,3,2200	95.0	88.0	90.0		555,555,555,555	-10.5	0.1	17	dbSNP_134	90	38,8562	25.7+/-73.6	0,38,4262	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP2	NM_001144888.1,NM_006340.2,NM_017450.2,NM_017451.2	,,,	0,41,6462	TT,TC,CC		0.4419,0.0681,0.3152	,,,	185/535,185/521,185/522,185/553	79073793	41,12965	2203	4300	6503	SO:0001819	synonymous_variant	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79073793C>T	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.555C>T	17.37:g.79073793C>T						BAIAP2_uc002jyz.3_Silent_p.T185T|BAIAP2_uc002jza.2_Silent_p.T185T|BAIAP2_uc002jzc.2_Silent_p.T185T|BAIAP2_uc002jzb.2_5'UTR|BAIAP2_uc002jzd.2_Silent_p.T185T|BAIAP2_uc002jzf.2_Silent_p.T185T|BAIAP2_uc002jze.2_Silent_p.T218T|BAIAP2_uc010wuh.1_Silent_p.T107T|BAIAP2_uc002jzh.2_Silent_p.T186T|BAIAP2_uc010wui.1_Silent_p.T48T	p.T185T	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		7	663	+	all_neural(118;0.101)		185			IMD.		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	ENST00000321300.6	37	c.555C>T	CCDS11775.1																																																																																				0.617	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			3	39	0	0	0	0	3	39				
ZNF532	55205	broad.mit.edu	37	18	56620896	56620896	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr18:56620896G>A	ENST00000336078.4	+	8	3791	c.3015G>A	c.(3013-3015)aaG>aaA	p.K1005K	ZNF532_ENST00000591808.1_Silent_p.K1005K|ZNF532_ENST00000591083.1_Silent_p.K1005K|ZNF532_ENST00000591230.1_Silent_p.K1005K|ZNF532_ENST00000589288.1_Silent_p.K1005K	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1005					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(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AATTGGAAAAGAAATCTCCAT	0.428																																						uc002lho.2		NA																	0				breast(1)|skin(1)	2						c.(3013-3015)AAG>AAA		zinc finger protein 532							64.0	63.0	64.0					18																	56620896		2203	4300	6503	SO:0001819	synonymous_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56620896G>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.3015G>A	18.37:g.56620896G>A						ZNF532_uc002lhp.2_Silent_p.K1003K|ZNF532_uc010xeg.1_Silent_p.K1003K|ZNF532_uc002lhr.2_Silent_p.K1003K|ZNF532_uc002lhs.2_Silent_p.K1003K|ZNF532_uc010xeh.1_Silent_p.K97K	p.K1005K	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN			8	3562	+			1005					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	c.3015G>A	CCDS11969.1																																																																																				0.428	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		24	49	0	0	0	0	24	49				
ODF3L2	284451	broad.mit.edu	37	19	463990	463990	+	Missense_Mutation	SNP	C	C	T	rs371698557		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:463990C>T	ENST00000315489.4	-	4	959	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	SHC2_ENST00000264554.6_5'Flank|ODF3L2_ENST00000382696.3_Missense_Mutation_p.A206T	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	242	Pro-rich.					cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						GGGCAGTGGGCGCCAGGGCCG	0.711																																						uc002lor.2		NA																	0					0						c.(724-726)GCC>ACC		outer dense fiber of sperm tails 3-like 2							16.0	20.0	19.0					19																	463990		2191	4284	6475	SO:0001583	missense	284451							g.chr19:463990C>T	AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 19"""	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.724G>A	19.37:g.463990C>T	ENSP00000318029:p.Ala242Thr					SHC2_uc002loq.3_5'Flank|ODF3L2_uc010drp.2_Missense_Mutation_p.A206T	p.A242T	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN			4	960	-			242			DUF1309 3.|Pro-rich.		Q3SX65|Q8N1L2	Missense_Mutation	SNP	ENST00000315489.4	37	c.724G>A	CCDS12027.1	.	.	.	.	.	.	.	.	.	.	C	4.392	0.072336	0.08436	.	.	ENSG00000181781	ENST00000315489;ENST00000382696	T;T	0.33216	1.42;1.42	3.81	0.902	0.19290	.	0.456339	0.24041	N	0.042093	T	0.16085	0.0387	L	0.33093	0.98	0.20873	N	0.999833	B;B	0.24882	0.001;0.113	B;B	0.18263	0.002;0.021	T	0.10154	-1.0642	10	0.27082	T	0.32	-18.1128	2.3151	0.04197	0.2282:0.3293:0.0:0.4425	.	206;242	Q3SX64-2;Q3SX64	.;OD3L2_HUMAN	T	242;206	ENSP00000318029:A242T;ENSP00000372143:A206T	ENSP00000318029:A242T	A	-	1	0	ODF3L2	414990	0.066000	0.20996	0.934000	0.37439	0.033000	0.12548	0.253000	0.18296	0.453000	0.26858	-0.477000	0.04895	GCC		0.711	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451849.2	NM_182577		4	13	0	0	0	0	4	13				
OR1M1	125963	broad.mit.edu	37	19	9204511	9204511	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:9204511C>T	ENST00000429566.3	+	1	657	c.591C>T	c.(589-591)atC>atT	p.I197I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGAATAGGATCTTCATCCTCA	0.567																																						uc010xkj.1		NA																	0				skin(3)	3						c.(589-591)ATC>ATT		olfactory receptor, family 1, subfamily M,							138.0	113.0	121.0					19																	9204511		2203	4300	6503	SO:0001819	synonymous_variant	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204511C>T		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.591C>T	19.37:g.9204511C>T							p.I197I	NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN			1	591	+			197			Helical; Name=5; (Potential).		B9EHA6|Q6IFJ3|Q96R91	Silent	SNP	ENST00000429566.3	37	c.591C>T	CCDS32896.1																																																																																				0.567	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			19	57	0	0	0	0	19	57				
ILVBL	10994	broad.mit.edu	37	19	15230101	15230101	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:15230101C>G	ENST00000263383.3	-	9	1066	c.927G>C	c.(925-927)gaG>gaC	p.E309D	ILVBL_ENST00000534378.1_Missense_Mutation_p.E202D|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	309						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACCCAAGGTCTCCACGGCAG	0.672																																						uc002nam.2		NA																	0				ovary(2)	2						c.(925-927)GAG>GAC		ilvB (bacterial acetolactate synthase)-like							51.0	54.0	53.0					19																	15230101		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15230101C>G	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.927G>C	19.37:g.15230101C>G	ENSP00000263383:p.Glu309Asp					ILVBL_uc010xof.1_5'Flank|ILVBL_uc010dzw.2_Missense_Mutation_p.E202D	p.E309D	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN			9	1048	-			309					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.927G>C	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924716	0.52653	.	.	ENSG00000105135	ENST00000263383	T	0.56611	0.45	5.14	4.11	0.48088	Thiamine pyrophosphate enzyme, central domain (1);	0.047799	0.85682	D	0.000000	T	0.67515	0.2901	M	0.76574	2.34	0.52099	D	0.999944	P	0.48350	0.909	P	0.60609	0.877	T	0.69551	-0.5115	10	0.59425	D	0.04	-44.173	10.9978	0.47587	0.0:0.9088:0.0:0.0912	.	309	A1L0T0	ILVBL_HUMAN	D	309	ENSP00000263383:E309D	ENSP00000263383:E309D	E	-	3	2	ILVBL	15091101	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	3.413000	0.52686	1.169000	0.42739	0.561000	0.74099	GAG		0.672	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		10	36	0	0	0	0	10	36				
ZNF382	84911	broad.mit.edu	37	19	37118156	37118156	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:37118156C>T	ENST00000292928.2	+	5	1470	c.1357C>T	c.(1357-1359)Ctc>Ttc	p.L453F	ZNF382_ENST00000435416.1_Missense_Mutation_p.L452F|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000439428.1_Missense_Mutation_p.L452F|ZNF382_ENST00000423582.1_Missense_Mutation_p.L404F	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	453	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AACCCTCACTCTCCACCAGAG	0.453																																						uc002oek.2		NA																	0					0						c.(1357-1359)CTC>TTC		zinc finger protein 382							52.0	56.0	55.0					19																	37118156		2203	4300	6503	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37118156C>T	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1357C>T	19.37:g.37118156C>T	ENSP00000292928:p.Leu453Phe					ZNF382_uc010efa.2_Missense_Mutation_p.L404F|ZNF382_uc010efb.2_Missense_Mutation_p.L452F|ZNF382_uc002oel.2_Missense_Mutation_p.L452F	p.L453F	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1470	+	Esophageal squamous(110;0.198)		453			Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).|C2H2-type 7.		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.1357C>T	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253707	0.39797	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.27	3.14	0.36123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39020	N	0.001487	T	0.19805	0.0476	L	0.28740	0.885	0.22851	N	0.998651	D;D;D	0.61080	0.986;0.986;0.989	P;P;P	0.60789	0.808;0.808;0.879	T	0.08680	-1.0710	10	0.14656	T	0.56	.	9.0118	0.36146	0.3265:0.6735:0.0:0.0	.	452;452;453	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	F	404;453;452;452	ENSP00000389722:L404F;ENSP00000292928:L453F;ENSP00000407593:L452F;ENSP00000410113:L452F	ENSP00000292928:L453F	L	+	1	0	ZNF382	41809996	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-2.131000	0.01311	2.375000	0.81037	0.591000	0.81541	CTC		0.453	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		9	35	0	0	0	0	9	35				
AXL	558	broad.mit.edu	37	19	41726662	41726662	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:41726662G>A	ENST00000301178.4	+	2	397	c.207G>A	c.(205-207)tgG>tgA	p.W69*	AXL_ENST00000359092.3_Nonsense_Mutation_p.W69*|CTD-2195B23.3_ENST00000598541.1_RNA|AXL_ENST00000594880.1_3'UTR	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	69	Ig-like C2-type 1.|Interaction with GAS6.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AGGTACATTGGCTTCGGGATG	0.627																																						uc010ehj.2		NA																	0				lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						c.(205-207)TGG>TGA		AXL receptor tyrosine kinase isoform 1							56.0	54.0	55.0					19																	41726662		2203	4300	6503	SO:0001587	stop_gained	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41726662G>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.207G>A	19.37:g.41726662G>A	ENSP00000301178:p.Trp69*					CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Nonsense_Mutation_p.W69*|AXL_uc010ehk.2_Nonsense_Mutation_p.W69*	p.W69*	NM_021913	NP_068713	P30530	UFO_HUMAN			2	397	+			69			Extracellular (Potential).|Interaction with GAS6.|Ig-like C2-type 1.		Q8N5L2|Q9UD27	Nonsense_Mutation	SNP	ENST00000301178.4	37	c.207G>A	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	37	6.065738	0.97251	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	.	.	.	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3885	14.2046	0.65725	0.0:0.0:1.0:0.0	.	.	.	.	X	69	.	ENSP00000301178:W69X	W	+	3	0	AXL	46418502	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	5.707000	0.68370	2.342000	0.79632	0.175000	0.17021	TGG		0.627	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			12	28	0	0	0	0	12	28				
DMRTC2	63946	broad.mit.edu	37	19	42351824	42351824	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:42351824C>T	ENST00000269945.3	+	3	296	c.245C>T	c.(244-246)gCt>gTt	p.A82V	DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.A82V	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	82					male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						AGGGTCATGGCTGCCCAGGTG	0.592																																						uc002ors.2		NA																	0					0						c.(244-246)GCT>GTT		DMRT-like family C2							35.0	33.0	34.0					19																	42351824		2203	4300	6503	SO:0001583	missense	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42351824C>T	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.245C>T	19.37:g.42351824C>T	ENSP00000269945:p.Ala82Val					DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc010xwe.1_Missense_Mutation_p.A82V	p.A82V	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN			3	328	+			82			DM.		Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.245C>T	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221742	0.95139	.	.	ENSG00000142025	ENST00000269945	.	.	.	5.3	5.3	0.74995	DM DNA-binding (5);	0.000000	0.46442	D	0.000293	D	0.83746	0.5321	M	0.88704	2.975	0.44677	D	0.997663	D;D	0.76494	0.999;0.998	D;D	0.72338	0.977;0.966	D	0.86437	0.1764	9	0.72032	D	0.01	-7.6013	14.8099	0.69985	0.0:1.0:0.0:0.0	.	82;82	B4DX56;Q8IXT2	.;DMRTD_HUMAN	V	82	.	ENSP00000269945:A82V	A	+	2	0	DMRTC2	47043664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.445000	0.66594	2.658000	0.90341	0.655000	0.94253	GCT		0.592	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		5	4	0	0	0	0	5	4				
ZC3H4	23211	broad.mit.edu	37	19	47575163	47575163	+	Missense_Mutation	SNP	G	G	T	rs149041592		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:47575163G>T	ENST00000253048.5	-	13	2055	c.2018C>A	c.(2017-2019)cCc>cAc	p.P673H	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	673	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.P673L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGGGCCGTAGGGCATCATTGG	0.607																																						uc002pga.3		NA																	1	Substitution - Missense(1)	p.P673L(1)	skin(1)	skin(4)|ovary(2)	6						c.(2017-2019)CCC>CAC		zinc finger CCCH-type containing 4							35.0	41.0	39.0					19																	47575163		2035	4185	6220	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47575163G>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2018C>A	19.37:g.47575163G>T	ENSP00000253048:p.Pro673His					ZC3H4_uc002pgb.1_Intron	p.P673H	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	13	2056	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	673			Pro-rich.		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.2018C>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438062	0.43326	.	.	ENSG00000130749	ENST00000253048	T	0.18016	2.24	5.35	5.35	0.76521	.	0.618694	0.15653	N	0.251303	T	0.17492	0.0420	L	0.36672	1.1	0.35600	D	0.807777	B	0.29612	0.251	B	0.24701	0.055	T	0.13710	-1.0499	10	0.54805	T	0.06	.	17.8281	0.88672	0.0:0.0:1.0:0.0	.	673	Q9UPT8	ZC3H4_HUMAN	H	673	ENSP00000253048:P673H	ENSP00000253048:P673H	P	-	2	0	ZC3H4	52267003	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	4.898000	0.63238	2.507000	0.84556	0.643000	0.83706	CCC		0.607	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			6	16	1	0	0.00116845	0.00121976	6	16				
SPHK2	56848	broad.mit.edu	37	19	49132292	49132292	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:49132292G>A	ENST00000245222.4	+	7	1593	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	SPHK2_ENST00000599029.1_Silent_p.P373P|SPHK2_ENST00000340932.3_Silent_p.P371P|SPHK2_ENST00000600537.1_Silent_p.P350P|SPHK2_ENST00000598088.1_Silent_p.P409P|SPHK2_ENST00000599748.1_Silent_p.P373P|SPHK2_ENST00000443164.1_Silent_p.P471P	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	409					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		Acccagccccgcccatggccc	0.682																																						uc002pjr.2		NA																	0				lung(1)	1						c.(1225-1227)CCG>CCA		sphingosine kinase 2							26.0	27.0	27.0					19																	49132292		2203	4296	6499	SO:0001819	synonymous_variant	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132292G>A	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1227G>A	19.37:g.49132292G>A						SPHK2_uc010xzt.1_Silent_p.P350P|SPHK2_uc002pjs.2_Silent_p.P409P|SPHK2_uc002pjt.2_Silent_p.P203P|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.P373P|SPHK2_uc002pjw.2_Silent_p.P471P	p.P409P	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	7	1593	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	409					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	c.1227G>A	CCDS12727.1																																																																																				0.682	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			8	22	0	0	0	0	8	22				
TULP2	7288	broad.mit.edu	37	19	49399725	49399725	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:49399725C>T	ENST00000221399.3	-	4	317	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	58					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CAGACAAGAGCGCCAAAGCCA	0.637																																						uc002pkz.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(172-174)CGC>CAC		tubby like protein 2							45.0	47.0	46.0					19																	49399725		2203	4300	6503	SO:0001583	missense	7288				visual perception	cytoplasm|extracellular region		g.chr19:49399725C>T	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.173G>A	19.37:g.49399725C>T	ENSP00000221399:p.Arg58His						p.R58H	NM_003323	NP_003314	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	4	324	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	58					Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	c.173G>A	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530160	0.64860	.	.	ENSG00000104804	ENST00000221399;ENST00000518572;ENST00000522945;ENST00000520977;ENST00000522229	D;T;T;T	0.86097	-2.07;1.61;0.88;0.34	5.03	1.5	0.22942	Tubby, N-terminal (1);	0.678460	0.13857	N	0.357935	D	0.84835	0.5560	L	0.56199	1.76	0.09310	N	1	D	0.69078	0.997	P	0.54431	0.752	T	0.74318	-0.3704	10	0.72032	D	0.01	-1.6322	5.425	0.16421	0.1457:0.6324:0.1409:0.081	.	58	O00295	TULP2_HUMAN	H	58;58;58;39;14	ENSP00000221399:R58H;ENSP00000428420:R58H;ENSP00000430040:R58H;ENSP00000428535:R39H	ENSP00000221399:R58H	R	-	2	0	TULP2	54091537	0.005000	0.15991	0.003000	0.11579	0.007000	0.05969	0.305000	0.19254	0.199000	0.20427	0.596000	0.82720	CGC		0.637	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		17	29	0	0	0	0	17	29				
APOB	338	broad.mit.edu	37	2	21233458	21233458	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:21233458G>A	ENST00000233242.1	-	26	6409	c.6282C>T	c.(6280-6282)aaC>aaT	p.N2094N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2094	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCTGTACGTTTTCCAGTA	0.363																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(6280-6282)AAC>AAT		apolipoprotein B precursor	Atorvastatin(DB01076)						68.0	71.0	70.0					2																	21233458		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233458G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6282C>T	2.37:g.21233458G>A							p.N2094N	NM_000384	NP_000375	P04114	APOB_HUMAN			26	6410	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2094			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.6282C>T	CCDS1703.1																																																																																				0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			10	40	0	0	0	0	10	40				
UBXN2A	165324	broad.mit.edu	37	2	24222567	24222567	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:24222567G>A	ENST00000309033.4	+	7	854	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	RN7SL610P_ENST00000463845.2_RNA|UBXN2A_ENST00000535786.1_Missense_Mutation_p.E151K|UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Missense_Mutation_p.E204K	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	204	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						AGACTTCATTGAAAAATACCA	0.363																																						uc010exy.2		NA																	0					0						c.(610-612)GAA>AAA		UBX domain containing 4							65.0	70.0	68.0					2																	24222567		2203	4300	6503	SO:0001583	missense	165324							g.chr2:24222567G>A	BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.610G>A	2.37:g.24222567G>A	ENSP00000312107:p.Glu204Lys					UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.E204K|UBXN2A_uc010ykj.1_Missense_Mutation_p.E151K	p.E204K	NM_181713	NP_859064	P68543	UBX2A_HUMAN			8	1078	+			204			UBX.		A8K577|B7ZKP8|Q569G8	Missense_Mutation	SNP	ENST00000309033.4	37	c.610G>A	CCDS1704.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519744	0.44866	.	.	ENSG00000173960	ENST00000404924;ENST00000309033;ENST00000535786	T;T;T	0.41400	1.0;1.0;1.0	4.99	3.11	0.35812	UBX (3);	0.533896	0.20546	N	0.090201	T	0.22820	0.0551	N	0.21448	0.665	0.33788	D	0.625138	B;P	0.35684	0.278;0.515	B;B	0.37387	0.084;0.248	T	0.21484	-1.0244	10	0.06891	T	0.86	3.3972	5.8354	0.18605	0.1023:0.1996:0.698:0.0	.	151;204	B7ZKP8;P68543	.;UBX2A_HUMAN	K	204;204;151	ENSP00000385525:E204K;ENSP00000312107:E204K;ENSP00000440533:E151K	ENSP00000312107:E204K	E	+	1	0	UBXN2A	24076071	0.879000	0.30193	0.998000	0.56505	0.808000	0.45660	1.330000	0.33781	1.351000	0.45789	0.561000	0.74099	GAA		0.363	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246824.2	NM_181713		19	36	0	0	0	0	19	36				
DHX57	90957	broad.mit.edu	37	2	39065051	39065051	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:39065051C>T	ENST00000295373.6	-	13	2590	c.2464G>A	c.(2464-2466)Gat>Aat	p.D822N		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	822							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTTTCAAAATCCATGATGGAC	0.358																																					Melanoma(191;1090 2095 4375 23729 47341)	uc002rrf.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(2464-2466)GAT>AAT		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							150.0	138.0	142.0					2																	39065051		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39065051C>T	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2464G>A	2.37:g.39065051C>T	ENSP00000295373:p.Asp822Asn					DHX57_uc002rrd.3_Missense_Mutation_p.D206N|DHX57_uc002rre.2_Missense_Mutation_p.D255N	p.D822N	NM_198963	NP_945314	Q6P158	DHX57_HUMAN			13	2563	-		all_hematologic(82;0.248)	822					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.2464G>A	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.436235|4.436235	0.83885|0.83885	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	T|.	0.03242|.	4.0|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.000000|.	0.52532|.	D|.	0.000065|.	T|T	0.49218|0.49218	0.1544|0.1544	N|N	0.13371|0.13371	0.34|0.34	0.53688|0.53688	D|D	0.999977|0.999977	B;B;B|.	0.32338|.	0.032;0.123;0.365|.	B;B;B|.	0.27500|.	0.068;0.031;0.08|.	T|T	0.44190|0.44190	-0.9344|-0.9344	10|5	0.24483|.	T|.	0.36|.	.|.	16.615|16.615	0.84904|0.84904	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	822;822;214|.	Q6P158;B4DKW2;Q59G60|.	DHX57_HUMAN;.;.|.	N|E	822|145	ENSP00000295373:D822N|.	ENSP00000295373:D822N|.	D|G	-|-	1|2	0|0	DHX57|DHX57	38918555|38918555	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.723000|5.723000	0.68492|0.68492	2.512000|2.512000	0.84698|0.84698	0.561000|0.561000	0.74099|0.74099	GAT|GGA		0.358	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		20	34	0	0	0	0	20	34				
BUB1	699	broad.mit.edu	37	2	111419371	111419371	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:111419371C>T	ENST00000302759.6	-	10	1123	c.1005G>A	c.(1003-1005)ctG>ctA	p.L335L	BUB1_ENST00000409311.1_Silent_p.L335L|BUB1_ENST00000535254.1_Silent_p.L315L	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	335					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATGGCGCTCTCAGTTCCTGCT	0.453																																						uc002tgc.2		NA																	0				lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(1003-1005)CTG>CTA		budding uninhibited by benzimidazoles 1							131.0	126.0	127.0					2																	111419371		2203	4300	6503	SO:0001819	synonymous_variant	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111419371C>T	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1005G>A	2.37:g.111419371C>T						BUB1_uc010yxh.1_Silent_p.L315L|BUB1_uc010fkb.2_Silent_p.L335L|BUB1_uc002tgd.2_Silent_p.L335L	p.L335L	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	10	1117	-		Ovarian(717;0.0822)	335					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	37	c.1005G>A	CCDS33273.1																																																																																				0.453	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		25	48	0	0	0	0	25	48				
IWS1	55677	broad.mit.edu	37	2	128262665	128262665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:128262665G>A	ENST00000295321.4	-	3	1073	c.814C>T	c.(814-816)Cga>Tga	p.R272*	IWS1_ENST00000455721.2_Nonsense_Mutation_p.R279*|IWS1_ENST00000486662.1_5'Flank|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	272	3 X approximate tandem repeats.|Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCACTGATTCGGGGTTTGGGA	0.522																																						uc002ton.2		NA																	0				ovary(1)	1						c.(814-816)CGA>TGA		IWS1 homolog							140.0	152.0	148.0					2																	128262665		2203	4300	6503	SO:0001587	stop_gained	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262665G>A	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.814C>T	2.37:g.128262665G>A	ENSP00000295321:p.Arg272*					IWS1_uc010yzl.1_RNA|uc002too.1_5'Flank|IWS1_uc010fma.2_RNA	p.R272*	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	1117	-	Colorectal(110;0.1)		272			Glu-rich.|2.|3 X approximate tandem repeats.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Nonsense_Mutation	SNP	ENST00000295321.4	37	c.814C>T	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820573	0.90873	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	.	.	.	5.72	4.84	0.62591	.	0.980940	0.08296	N	0.967720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-2.2828	10.9812	0.47494	0.0:0.1402:0.7141:0.1457	.	.	.	.	X	272;225;279;277	.	ENSP00000295321:R272X	R	-	1	2	IWS1	127979135	0.000000	0.05858	0.732000	0.30844	0.460000	0.32559	0.551000	0.23361	1.415000	0.47037	-0.310000	0.09108	CGA		0.522	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		75	153	0	0	0	0	75	153				
XIRP2	129446	broad.mit.edu	37	2	168103818	168103818	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:168103818C>A	ENST00000409195.1	+	9	6005	c.5916C>A	c.(5914-5916)aaC>aaA	p.N1972K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.N1972K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N1750K|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1797					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.N1972K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCAGAGGAACAAAAATAGTC	0.458																																						uc002udx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(5914-5916)AAC>AAA		xin actin-binding repeat containing 2 isoform 1							42.0	41.0	41.0					2																	168103818		1913	4131	6044	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103818C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5916C>A	2.37:g.168103818C>A	ENSP00000386840:p.Asn1972Lys					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.N1797K|XIRP2_uc010fpq.2_Missense_Mutation_p.N1750K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.N1972K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5934	+			1797					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5916C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	2.147	-0.395389	0.04899	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02579	4.24;4.24;4.24	5.73	2.92	0.33932	.	0.562741	0.19002	N	0.125325	T	0.02380	0.0073	N	0.22421	0.69	0.09310	N	1	B;B;B	0.25904	0.085;0.137;0.034	B;B;B	0.21917	0.016;0.037;0.014	T	0.43734	-0.9373	10	0.48119	T	0.1	0.0057	8.8589	0.35245	0.0:0.7362:0.1229:0.1409	.	1797;1797;1750	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	1972;1972;1750	ENSP00000386840:N1972K;ENSP00000295237:N1972K;ENSP00000387255:N1750K	ENSP00000295237:N1972K	N	+	3	2	XIRP2	167812064	0.882000	0.30256	0.008000	0.14137	0.022000	0.10575	0.731000	0.26058	0.764000	0.33197	0.650000	0.86243	AAC		0.458	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		13	23	1	0	9.05e-12	1.02e-11	13	23				
TTN	7273	broad.mit.edu	37	2	179529198	179529198	+	Intron	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:179529198A>G	ENST00000591111.1	-	154	34489				TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V12090A|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGACAGGTACAACTTCAGC	0.403																																						uc010zfk.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(706-708)GTA>GCA		SubName: Full=Titin; Flags: Fragment;							153.0	146.0	148.0					2																	179529198		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179529198A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-5677T>C	2.37:g.179529198A>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.V236A			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		13	1255	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.707T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.458|6.458	0.452671|0.452671	0.12283|0.12283	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000541862;ENST00000392423|ENST00000425332	.|.	.|.	.|.	4.94|4.94	2.44|2.44	0.29823|0.29823	.|.	.|.	.|.	.|.	.|.	T|T	0.24084|0.24084	0.0583|0.0583	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P|.	0.43094|.	0.799|.	B|.	0.35931|.	0.214|.	T|T	0.14117|0.14117	-1.0484|-1.0484	7|4	0.08381|.	T|.	0.77|.	.|.	3.7339|3.7339	0.08503|0.08503	0.6563:0.1356:0.0771:0.131|0.6563:0.1356:0.0771:0.131	.|.	364|.	Q71S18|.	.|.	A|H	364;216|154	.|.	ENSP00000376219:V216A|.	V|Y	-|-	2|1	0|0	TTN|TTN	179237443|179237443	0.825000|0.825000	0.29262|0.29262	0.125000|0.125000	0.21846|0.21846	0.006000|0.006000	0.05464|0.05464	0.862000|0.862000	0.27899|0.27899	1.976000|1.976000	0.57569|0.57569	0.528000|0.528000	0.53228|0.53228	GTA|TAC		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	72	0	0	0	0	33	72				
TTN	7273	broad.mit.edu	37	2	179549471	179549471	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:179549471C>T	ENST00000591111.1	-	129	31833	c.31609G>A	c.(31609-31611)Gaa>Aaa	p.E10537K	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E10854K|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9610K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGCTCTTCTGGCACTTAA	0.388																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(28828-28830)GAA>AAA		titin isoform N2-A							99.0	86.0	90.0					2																	179549471		1822	4079	5901	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179549471C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31609G>A	2.37:g.179549471C>T	ENSP00000465570:p.Glu10537Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6271K|TTN_uc010fre.1_Intron	p.E9610K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		128	29052	-			10537					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.28828G>A		.	.	.	.	.	.	.	.	.	.	C	16.15	3.042032	0.55003	.	.	ENSG00000155657	ENST00000342992	T	0.69175	-0.38	5.57	5.57	0.84162	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.65460	0.2693	M	0.78916	2.43	0.80722	D	1	P	0.40970	0.734	B	0.35114	0.196	T	0.72077	-0.4399	9	0.87932	D	0	.	12.4167	0.55498	0.0:0.9202:0.0:0.0798	.	10537	Q8WZ42	TITIN_HUMAN	K	9610	ENSP00000343764:E9610K	ENSP00000343764:E9610K	E	-	1	0	TTN	179257716	0.202000	0.23423	1.000000	0.80357	0.983000	0.72400	0.267000	0.18552	2.791000	0.96007	0.655000	0.94253	GAA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	26	0	0	0	0	12	26				
CASP8	841	broad.mit.edu	37	2	202149659	202149659	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:202149659A>G	ENST00000432109.2	+	9	1112	c.923A>G	c.(922-924)gAc>gGc	p.D308G	CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.D325G|CASP8_ENST00000264274.9_Missense_Mutation_p.D224G|CASP8_ENST00000358485.4_Missense_Mutation_p.D367G|CASP8_ENST00000323492.7_Missense_Mutation_p.D293G|CASP8_ENST00000392259.2_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	308					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGTAACATGGACTGCTTCATC	0.468										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(922-924)GAC>GGC		caspase 8 isoform B precursor							180.0	153.0	162.0					2																	202149659		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202149659A>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.923A>G	2.37:g.202149659A>G	ENSP00000412523:p.Asp308Gly	HNSCC(4;0.00038)				CASP8_uc002uxp.1_Missense_Mutation_p.D325G|CASP8_uc002uxq.1_Missense_Mutation_p.D293G|CASP8_uc002uxt.1_Missense_Mutation_p.D367G|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Missense_Mutation_p.D293G|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Missense_Mutation_p.D224G	p.D308G	NM_033355	NP_203519	Q14790	CASP8_HUMAN			9	1132	+			308					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.923A>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707474	0.68615	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.68	5.68	0.88126	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.048610	0.85682	D	0.000000	T	0.64114	0.2569	M	0.84156	2.68	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.98;0.991;0.989	D;D;D;D;D	0.97110	1.0;0.955;0.966;0.988;0.955	T	0.68546	-0.5380	10	0.56958	D	0.05	.	15.9161	0.79521	1.0:0.0:0.0:0.0	.	224;367;308;293;325	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	G	293;224;308;325;367;293;87	ENSP00000376091:D293G;ENSP00000264274:D224G;ENSP00000412523:D308G;ENSP00000264275:D325G;ENSP00000351273:D367G;ENSP00000325722:D293G;ENSP00000394434:D87G	ENSP00000264274:D224G	D	+	2	0	CASP8	201857904	1.000000	0.71417	0.946000	0.38457	0.566000	0.35808	9.079000	0.94032	2.170000	0.68504	0.459000	0.35465	GAC		0.468	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		62	38	0	0	0	0	62	38				
INHA	3623	broad.mit.edu	37	2	220439822	220439822	+	Silent	SNP	T	T	C	rs139608664		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:220439822T>C	ENST00000243786.2	+	2	855	c.675T>C	c.(673-675)agT>agC	p.S225S		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	225					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GACCACCCAGTGGAGGGGAGA	0.692																																						uc002vmk.1		NA																	0				ovary(1)	1						c.(673-675)AGT>AGC		inhibin alpha subunit precursor							37.0	40.0	39.0					2																	220439822		2203	4300	6503	SO:0001819	synonymous_variant	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220439822T>C		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.675T>C	2.37:g.220439822T>C							p.S225S	NM_002191	NP_002182	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	819	+		Renal(207;0.0183)	225					A8K8H5	Silent	SNP	ENST00000243786.2	37	c.675T>C	CCDS2444.1																																																																																				0.692	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			26	13	0	0	0	0	26	13				
ESPNL	339768	broad.mit.edu	37	2	239040266	239040266	+	Missense_Mutation	SNP	C	C	G	rs578197417		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:239040266C>G	ENST00000343063.3	+	9	3174	c.2911C>G	c.(2911-2913)Cgc>Ggc	p.R971G	ESPNL_ENST00000409506.1_Missense_Mutation_p.R603G|ESPNL_ENST00000409169.1_Missense_Mutation_p.R927G|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	971										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGGGGTCCCGCTCCCAGCA	0.652																																						uc002vxq.3		NA																	0				pancreas(1)	1						c.(2911-2913)CGC>GGC		espin-like							27.0	29.0	28.0					2																	239040266		2201	4300	6501	SO:0001583	missense	339768							g.chr2:239040266C>G	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2911C>G	2.37:g.239040266C>G	ENSP00000339115:p.Arg971Gly					ESPNL_uc010fyw.2_Missense_Mutation_p.R667G	p.R971G	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	9	3021	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	971					Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.2911C>G	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.263489	0.01445	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.61859	0.07;1.17;0.75	4.39	-0.562	0.11781	.	1.134570	0.06704	N	0.771891	T	0.18718	0.0449	N	0.00538	-1.39	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.14559	-1.0468	10	0.18710	T	0.47	-7.9795	0.7138	0.00929	0.2178:0.1452:0.3834:0.2535	.	927;971	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	G	971;927;603	ENSP00000339115:R971G;ENSP00000386577:R927G;ENSP00000386579:R603G	ENSP00000339115:R971G	R	+	1	0	ESPNL	238705005	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.120000	0.10660	0.078000	0.16900	-0.515000	0.04445	CGC		0.652	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		19	10	0	0	0	0	19	10				
BCAS1	8537	broad.mit.edu	37	20	52644969	52644969	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr20:52644969C>T	ENST00000395961.3	-	4	851	c.685G>A	c.(685-687)Ggc>Agc	p.G229S	BCAS1_ENST00000411563.1_Missense_Mutation_p.G132S|BCAS1_ENST00000371435.2_Missense_Mutation_p.G229S|BCAS1_ENST00000371440.3_Missense_Mutation_p.G229S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	229						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCTGATAAGCCAGGAACCTCA	0.532																																						uc002xws.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(685-687)GGC>AGC		breast carcinoma amplified sequence 1							327.0	280.0	296.0					20																	52644969		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52644969C>T	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.685G>A	20.37:g.52644969C>T	ENSP00000379290:p.Gly229Ser					BCAS1_uc010zzb.1_Missense_Mutation_p.G132S|BCAS1_uc010gim.2_Missense_Mutation_p.G132S|BCAS1_uc002xwt.2_Missense_Mutation_p.G229S|BCAS1_uc010gil.1_Missense_Mutation_p.G229S|BCAS1_uc010zzc.1_Missense_Mutation_p.G132S	p.G229S	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	1023	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		229					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.685G>A	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767467	0.69878	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000411563	T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32	5.11	5.11	0.69529	.	0.698726	0.14184	N	0.335834	T	0.20251	0.0487	L	0.53249	1.67	0.09310	N	1	D;D;D;P;P;P	0.76494	0.999;0.991;0.991;0.898;0.573;0.573	D;P;P;P;B;B	0.66084	0.941;0.83;0.83;0.655;0.193;0.193	T	0.03051	-1.1078	10	0.49607	T	0.09	-1.5033	15.618	0.76784	0.0:1.0:0.0:0.0	.	132;229;229;229;229;229	B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	S	91;229;107;229;229;132	ENSP00000396361:G91S;ENSP00000360495:G229S;ENSP00000379290:G229S;ENSP00000360490:G229S;ENSP00000397442:G132S	ENSP00000360490:G229S	G	-	1	0	BCAS1	52078376	0.037000	0.19845	0.010000	0.14722	0.002000	0.02628	3.265000	0.51561	2.527000	0.85204	0.563000	0.77884	GGC		0.532	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		52	144	0	0	0	0	52	144				
RGL4	266747	broad.mit.edu	37	22	24035110	24035110	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr22:24035110G>A	ENST00000290691.5	+	3	1798	c.628G>A	c.(628-630)Gag>Aag	p.E210K	AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.E74K|KB-1572G7.2_ENST00000421064.1_RNA|GUSBP11_ENST00000455485.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	210	Pro-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CCAACCCAGTGAGGAGCTGCC	0.622																																						uc002zxn.2		NA																	0				ovary(1)	1						c.(628-630)GAG>AAG		ral guanine nucleotide dissociation							74.0	63.0	67.0					22																	24035110		2203	4300	6503	SO:0001583	missense	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24035110G>A		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.628G>A	22.37:g.24035110G>A	ENSP00000290691:p.Glu210Lys					LOC91316_uc002zxh.3_RNA|LOC91316_uc002zxi.3_RNA|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.E210K|RGL4_uc002zxp.1_Missense_Mutation_p.E74K|RGL4_uc002zxq.2_Missense_Mutation_p.E74K	p.E210K	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN			3	1798	+			210			Pro-rich.		Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	c.628G>A	CCDS13811.1	.	.	.	.	.	.	.	.	.	.	g	16.13	3.035875	0.54896	.	.	ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392	T;T;T	0.29397	1.57;1.57;1.57	1.63	0.583	0.17417	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.409722	0.20253	N	0.096026	T	0.27967	0.0689	L	0.36672	1.1	0.22240	N	0.999269	D;P;P;P	0.54964	0.969;0.848;0.947;0.917	P;P;P;P	0.51016	0.656;0.521;0.585;0.606	T	0.09335	-1.0679	10	0.62326	D	0.03	.	5.7402	0.18089	0.1948:0.0:0.8052:0.0	.	74;74;210;210	E7EW79;Q495L8;E9PH87;Q8IZJ4	.;.;.;RGDSR_HUMAN	K	74;210;210;210	ENSP00000383951:E74K;ENSP00000290691:E210K;ENSP00000402142:E210K	ENSP00000290691:E210K	E	+	1	0	RGL4	22365110	0.994000	0.37717	0.014000	0.15608	0.032000	0.12392	3.362000	0.52314	0.243000	0.21327	0.543000	0.68304	GAG		0.622	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		8	31	0	0	0	0	8	31				
GUCD1	83606	broad.mit.edu	37	22	24943916	24943916	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr22:24943916C>A	ENST00000407471.3	-	3	444	c.254G>T	c.(253-255)tGt>tTt	p.C85F	GUCD1_ENST00000490922.1_5'UTR|GUCD1_ENST00000402766.1_Missense_Mutation_p.C85F|GUCD1_ENST00000447813.2_Missense_Mutation_p.C85F|GUCD1_ENST00000435822.1_Missense_Mutation_p.C85F|GUCD1_ENST00000404664.3_Missense_Mutation_p.C141F	NM_001284251.1	NP_001271180.1	Q96NT3	GUCD1_HUMAN	guanylyl cyclase domain containing 1	85																	GGTCTGGGTACAGAAGCGGTG	0.602																																						uc003aah.2		NA																	0					0						c.(253-255)TGT>TTT		chromosome 22 open reading frame 13							119.0	92.0	101.0					22																	24943916		2203	4300	6503	SO:0001583	missense	83606							g.chr22:24943916C>A	AK054681	CCDS33621.1, CCDS63426.1, CCDS63427.1, CCDS74831.1, CCDS74832.1, CCDS74833.1	22q11.2	2012-11-13	2012-11-13	2012-11-13	ENSG00000138867	ENSG00000138867			14237	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 13"""	C22orf13		12477932	Standard	XM_005261761		Approved	MGC1842, LLN4	uc003aah.2	Q96NT3	OTTHUMG00000150728	ENST00000407471.3:c.254G>T	22.37:g.24943916C>A	ENSP00000386076:p.Cys85Phe					C22orf13_uc003aal.2_Missense_Mutation_p.C141F|C22orf13_uc003aai.3_Missense_Mutation_p.C85F|C22orf13_uc003aaj.3_Missense_Mutation_p.C85F|C22orf13_uc003aak.3_Missense_Mutation_p.C141F	p.C85F	NM_031444	NP_113632	Q96NT3	CV013_HUMAN			3	570	-			85					B5MCB8|B5MCL7|Q96Q79|Q9BU32	Missense_Mutation	SNP	ENST00000407471.3	37	c.254G>T	CCDS33621.1	.	.	.	.	.	.	.	.	.	.	C	9.770	1.172434	0.21704	.	.	ENSG00000138867	ENST00000407471;ENST00000435822;ENST00000404664;ENST00000447813;ENST00000402766;ENST00000407973	.	.	.	5.28	5.28	0.74379	.	0.204717	0.52532	D	0.000063	T	0.56978	0.2022	N	0.19112	0.55	0.80722	D	1	D;B;B;P;B	0.61080	0.989;0.178;0.145;0.887;0.035	D;B;B;P;B	0.63488	0.915;0.028;0.069;0.676;0.052	T	0.49934	-0.8886	9	0.02654	T	1	-23.9015	17.8899	0.88869	0.0:1.0:0.0:0.0	.	85;141;149;85;85	E9PGZ7;B5MCL7;B4DH83;B4DL90;Q96NT3	.;.;.;.;CV013_HUMAN	F	85;85;141;85;85;85	.	ENSP00000381297:C85F	C	-	2	0	C22orf13	23273916	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.644000	0.67902	2.472000	0.83506	0.655000	0.94253	TGT		0.602	GUCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319819.1	NM_031444		19	35	1	0	5.35e-07	5.87e-07	19	35				
TTC21A	199223	broad.mit.edu	37	3	39178436	39178436	+	Missense_Mutation	SNP	C	C	T	rs200397655		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:39178436C>T	ENST00000431162.2	+	24	3297	c.3163C>T	c.(3163-3165)Cgc>Tgc	p.R1055C	TTC21A_ENST00000440121.1_Missense_Mutation_p.R1007C|TTC21A_ENST00000301819.6_Missense_Mutation_p.R1056C|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1055			R -> L (in dbSNP:rs35934336). {ECO:0000269|PubMed:14702039}.							NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAACAAGGCACGCAAGGACAG	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21228	0.0		0.0	False		,,,				2504	0.0					uc003cjc.2		NA																	0				ovary(1)	1						c.(3163-3165)CGC>TGC		tetratricopeptide repeat domain 21A isoform 2							110.0	115.0	113.0					3																	39178436		2102	4225	6327	SO:0001583	missense	199223						binding	g.chr3:39178436C>T	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3163C>T	3.37:g.39178436C>T	ENSP00000398211:p.Arg1055Cys					TTC21A_uc003cje.2_Missense_Mutation_p.R1056C|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.R1007C|TTC21A_uc003cjf.2_Missense_Mutation_p.R176C	p.R1055C	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	24	3340	+			1055			TPR 16.		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.3163C>T	CCDS46800.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.40	3.111840	0.56398	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.38077	1.16;1.16;1.16	4.85	4.85	0.62838	Tetratricopeptide-like helical (1);	0.090927	0.40469	N	0.001085	T	0.66117	0.2757	M	0.90082	3.085	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.997	T	0.71849	-0.4468	10	0.45353	T	0.12	-17.788	14.9103	0.70752	0.0:1.0:0.0:0.0	.	1007;1056;1055	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	C	1056;1038;1055;1007	ENSP00000301819:R1056C;ENSP00000398211:R1055C;ENSP00000410882:R1007C	ENSP00000301819:R1056C	R	+	1	0	TTC21A	39153440	0.988000	0.35896	0.920000	0.36463	0.428000	0.31595	2.830000	0.48136	2.237000	0.73441	0.462000	0.41574	CGC		0.547	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		10	58	0	0	0	0	10	58				
MAP4	4134	broad.mit.edu	37	3	47912526	47912526	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:47912526G>A	ENST00000360240.6	-	13	3154	c.2636C>T	c.(2635-2637)gCc>gTc	p.A879V	MAP4_ENST00000264724.11_Missense_Mutation_p.A614V|MAP4_ENST00000395734.3_Missense_Mutation_p.A879V|MAP4_ENST00000420772.2_Missense_Mutation_p.A610V|MAP4_ENST00000441748.2_Missense_Mutation_p.A31V|MAP4_ENST00000383737.4_Missense_Mutation_p.A607V|MAP4_ENST00000426837.2_Missense_Mutation_p.A2024V|MAP4_ENST00000462206.1_5'Flank	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	879					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGCAGCGGGGGCTGTCCCACT	0.587																																						uc003csb.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2635-2637)GCC>GTC		microtubule-associated protein 4 isoform 1							50.0	56.0	54.0					3																	47912526		2203	4300	6503	SO:0001583	missense	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47912526G>A		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.2636C>T	3.37:g.47912526G>A	ENSP00000353375:p.Ala879Val					MAP4_uc003csc.3_Missense_Mutation_p.A879V|MAP4_uc003crw.2_Missense_Mutation_p.A11V|MAP4_uc003crx.2_Missense_Mutation_p.A139V|MAP4_uc011bbe.1_Missense_Mutation_p.A630V|MAP4_uc003cry.2_Missense_Mutation_p.A614V|MAP4_uc003csa.3_Missense_Mutation_p.A614V|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_Missense_Mutation_p.A614V	p.A879V	NM_002375	NP_002366	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	13	3162	-			879					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.2636C>T	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703548	0.68501	.	.	ENSG00000047849	ENST00000383737;ENST00000264724;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000420772;ENST00000335271;ENST00000441748;ENST00000383736	T;T;T;T;T;T;T;T	0.34472	3.0;1.44;3.17;3.17;3.15;1.95;2.11;1.36	5.65	4.77	0.60923	.	.	.	.	.	T	0.51500	0.1678	L	0.46157	1.445	0.09310	N	1	D;P;D;P;P;P;D	0.63046	0.992;0.941;0.969;0.907;0.902;0.483;0.983	P;P;P;P;P;B;P	0.61722	0.893;0.852;0.688;0.49;0.655;0.084;0.833	T	0.47509	-0.9112	9	0.62326	D	0.03	-2.6815	15.6933	0.77473	0.0:0.1372:0.8628:0.0	.	610;614;879;879;614;607;2024	F8W9U4;P27816-4;P27816-6;P27816;E9PGM5;B9ZVR1;E7EVA0	.;.;.;MAP4_HUMAN;.;.;.	V	607;614;879;2024;879;610;245;31;614	ENSP00000373243:A607V;ENSP00000264724:A614V;ENSP00000379083:A879V;ENSP00000407602:A2024V;ENSP00000353375:A879V;ENSP00000409731:A610V;ENSP00000334770:A245V;ENSP00000415130:A31V	ENSP00000264724:A614V	A	-	2	0	MAP4	47887530	0.013000	0.17824	0.011000	0.14972	0.020000	0.10135	1.856000	0.39389	1.360000	0.45960	0.655000	0.94253	GCC		0.587	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		18	41	0	0	0	0	18	41				
EPHA3	2042	broad.mit.edu	37	3	89498433	89498433	+	Missense_Mutation	SNP	C	C	G	rs369423490		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:89498433C>G	ENST00000336596.2	+	14	2630	c.2405C>G	c.(2404-2406)aCg>aGg	p.T802R	EPHA3_ENST00000494014.1_Missense_Mutation_p.T802R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CGCAAGTTCACGTCAGCCAGC	0.438										TSP Lung(6;0.00050)																												uc003dqy.2		NA																	0				lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(2404-2406)ACG>AGG		ephrin receptor EphA3 isoform a precursor		C	ARG/THR	0,4406		0,0,2203	232.0	216.0	221.0		2405	5.3	1.0	3		221	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPHA3	NM_005233.5	71	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	802/984	89498433	1,13005	2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89498433C>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2405C>G	3.37:g.89498433C>G	ENSP00000337451:p.Thr802Arg	TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.T802R	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	14	2630	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	802			Cytoplasmic (Potential).|Protein kinase.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2405C>G	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498387	0.85069	0.0	1.16E-4	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.66099	-0.19;-0.19	5.34	5.34	0.76211	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84620	0.5512	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88049	0.2786	9	.	.	.	.	19.0702	0.93130	0.0:1.0:0.0:0.0	.	802	P29320	EPHA3_HUMAN	R	802	ENSP00000337451:T802R;ENSP00000419190:T802R	.	T	+	2	0	EPHA3	89581123	1.000000	0.71417	0.951000	0.38953	0.818000	0.46254	7.772000	0.85439	2.507000	0.84556	0.655000	0.94253	ACG		0.438	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		25	71	0	0	0	0	25	71				
GAP43	2596	broad.mit.edu	37	3	115395076	115395076	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:115395076G>C	ENST00000305124.6	+	2	613	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q	GAP43_ENST00000393780.3_Missense_Mutation_p.E119Q	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	83					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GAAGAAGGGAGAAGGCACCAC	0.562																																						uc003ebq.2		NA																	0				ovary(1)	1						c.(247-249)GAA>CAA		growth associated protein 43 isoform 2							73.0	71.0	72.0					3																	115395076		2203	4300	6503	SO:0001583	missense	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395076G>C		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.247G>C	3.37:g.115395076G>C	ENSP00000305010:p.Glu83Gln					GAP43_uc003ebr.2_Missense_Mutation_p.E119Q	p.E83Q	NM_002045	NP_002036	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	2	633	+			83					A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	c.247G>C	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100144	0.76983	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.53857	0.6;0.6	4.62	4.62	0.57501	Neuromodulin (GAP-43), C-terminal (1);	0.181343	0.46442	D	0.000294	T	0.64483	0.2602	L	0.61218	1.895	0.48341	D	0.999635	D;P	0.58970	0.984;0.901	P;P	0.55303	0.773;0.583	T	0.68150	-0.5485	10	0.59425	D	0.04	-0.1211	16.9865	0.86341	0.0:0.0:1.0:0.0	.	119;83	A8K0Y4;P17677	.;NEUM_HUMAN	Q	83;119	ENSP00000305010:E83Q;ENSP00000377372:E119Q	ENSP00000305010:E83Q	E	+	1	0	GAP43	116877766	1.000000	0.71417	0.994000	0.49952	0.889000	0.51656	5.651000	0.67951	2.547000	0.85894	0.655000	0.94253	GAA		0.562	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		10	21	0	0	0	0	10	21				
DNAJB8	165721	broad.mit.edu	37	3	128181438	128181438	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:128181438C>T	ENST00000469083.1	-	2	3208	c.651G>A	c.(649-651)tcG>tcA	p.S217S	DNAJB8_ENST00000319153.3_Silent_p.S217S|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	217					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TCACAGTCACCGACTTGAGCT	0.632																																						uc003ekk.1		NA																	0					0						c.(649-651)TCG>TCA		DnaJ homolog, subfamily B, member 8							173.0	137.0	149.0					3																	128181438		2203	4300	6503	SO:0001819	synonymous_variant	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181438C>T		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.651G>A	3.37:g.128181438C>T						uc003ekl.1_5'Flank	p.S217S	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	3	2312	-			217					B3KWV7	Silent	SNP	ENST00000469083.1	37	c.651G>A	CCDS3048.1																																																																																				0.632	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		28	67	0	0	0	0	28	67				
LSG1	55341	broad.mit.edu	37	3	194392825	194392825	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:194392825G>A	ENST00000265245.5	-	1	381	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	LSG1_ENST00000480853.1_Intron	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	23					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CTTCGGCTCCGCTGAGTCTGA	0.597																																						uc003fui.2		NA																	0					0						c.(67-69)CGG>TGG		large subunit GTPase 1							58.0	56.0	57.0					3																	194392825		2203	4300	6503	SO:0001583	missense	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194392825G>A		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.67C>T	3.37:g.194392825G>A	ENSP00000265245:p.Arg23Trp						p.R23W	NM_018385	NP_060855	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	1	382	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		23					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	37	c.67C>T	CCDS33922.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852556	0.71719	.	.	ENSG00000041802	ENST00000265245	T	0.42513	0.97	4.29	2.42	0.29668	.	0.499968	0.21979	N	0.066325	T	0.39253	0.1071	L	0.27053	0.805	0.33247	D	0.558033	D	0.76494	0.999	P	0.55455	0.776	T	0.52638	-0.8549	10	0.72032	D	0.01	.	7.2788	0.26300	0.0:0.1873:0.6187:0.194	.	23	Q9H089	LSG1_HUMAN	W	23	ENSP00000265245:R23W	ENSP00000265245:R23W	R	-	1	2	LSG1	195874114	0.997000	0.39634	1.000000	0.80357	0.933000	0.57130	0.492000	0.22435	0.698000	0.31739	0.655000	0.94253	CGG		0.597	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		13	24	0	0	0	0	13	24				
AFAP1	60312	broad.mit.edu	37	4	7795475	7795475	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:7795475G>A	ENST00000360265.4	-	10	1579	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	AFAP1_ENST00000358461.2_Silent_p.L449L|AFAP1_ENST00000382543.3_Silent_p.L449L|AFAP1_ENST00000420658.1_Silent_p.L449L|AFAP1_ENST00000513842.1_5'UTR			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	449						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TCATAGTGCAGAGCCTCCGGG	0.498																																						uc003gkg.1		NA																	0					0						c.(1345-1347)CTG>TTG		actin filament associated protein 1							169.0	159.0	163.0					4																	7795475		2203	4300	6503	SO:0001819	synonymous_variant	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7795475G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1345C>T	4.37:g.7795475G>A						AFAP1_uc011bwk.1_Silent_p.L449L	p.L449L	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN			11	1618	-			449					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	ENST00000360265.4	37	c.1345C>T	CCDS3397.1																																																																																				0.498	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		23	74	0	0	0	0	23	74				
SLIT2	9353	broad.mit.edu	37	4	20258327	20258327	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:20258327C>T	ENST00000504154.1	+	2	464	c.212C>T	c.(211-213)aCg>aTg	p.T71M	SLIT2_ENST00000273739.5_Missense_Mutation_p.T71M|SLIT2_ENST00000503837.1_Missense_Mutation_p.T71M|SLIT2_ENST00000503823.1_Missense_Mutation_p.T71M	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	71					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.T71M(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACAAGAATTACGAAGACAGAT	0.294																																						uc003gpr.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(211-213)ACG>ATG		slit homolog 2 precursor							86.0	93.0	91.0					4																	20258327		2203	4297	6500	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20258327C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.212C>T	4.37:g.20258327C>T	ENSP00000422591:p.Thr71Met					SLIT2_uc003gps.1_Missense_Mutation_p.T71M	p.T71M	NM_004787	NP_004778	O94813	SLIT2_HUMAN			2	416	+			71			LRR 1.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.212C>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.802018	0.70682	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000508824	T;T;T;T;D	0.83755	1.79;1.79;1.79;1.79;-1.76	5.65	5.65	0.86999	.	0.053525	0.85682	D	0.000000	D	0.87708	0.6245	L	0.53617	1.68	0.58432	D	0.999997	D;D	0.76494	0.999;0.99	P;P	0.57846	0.828;0.806	D	0.85268	0.1054	10	0.34782	T	0.22	.	20.1057	0.97893	0.0:1.0:0.0:0.0	.	71;71	O94813-3;O94813	.;SLIT2_HUMAN	M	71;71;71;71;71;32	ENSP00000427548:T71M;ENSP00000422591:T71M;ENSP00000273739:T71M;ENSP00000422261:T71M;ENSP00000426356:T32M	ENSP00000273739:T71M	T	+	2	0	SLIT2	19867425	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	7.445000	0.80570	2.827000	0.97445	0.650000	0.86243	ACG		0.294	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			14	28	0	0	0	0	14	28				
PCDH7	5099	broad.mit.edu	37	4	30726069	30726069	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:30726069C>T	ENST00000361762.2	+	1	4033	c.3025C>T	c.(3025-3027)Ccc>Tcc	p.P1009S	PCDH7_ENST00000543491.1_Missense_Mutation_p.P1009S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	1009					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TCAGCTTCATCCCCAGTCACC	0.507																																						uc003gsk.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(3025-3027)CCC>TCC		protocadherin 7 isoform a precursor							97.0	98.0	98.0					4																	30726069		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30726069C>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.3025C>T	4.37:g.30726069C>T	ENSP00000355243:p.Pro1009Ser					PCDH7_uc011bxw.1_Missense_Mutation_p.P962S|PCDH7_uc011bxx.1_Missense_Mutation_p.P1009S	p.P1009S	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	4033	+			1009			Cytoplasmic (Potential).		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.3025C>T	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.28|18.28	3.588195|3.588195	0.66105|0.66105	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.38722|.	1.12;1.12|.	5.08|5.08	5.08|5.08	0.68730|0.68730	Protocadherin (1);|.	.|.	.|.	.|.	.|.	T|T	0.77343|0.77343	0.4116|0.4116	M|M	0.76838|0.76838	2.35|2.35	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.77557|.	0.961;0.982;0.99|.	T|T	0.77427|0.77427	-0.2592|-0.2592	9|5	0.87932|.	D|.	0|.	.|.	18.2504|18.2504	0.90000|0.90000	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1009;962;1009|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	S|F	1009;1009;962|698	ENSP00000355243:P1009S;ENSP00000441802:P1009S|.	ENSP00000330302:P962S|.	P|S	+|+	1|2	0|0	PCDH7|PCDH7	30335167|30335167	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.979000|0.979000	0.70002|0.70002	7.320000|7.320000	0.79064|0.79064	2.648000|2.648000	0.89879|0.89879	0.561000|0.561000	0.74099|0.74099	CCC|TCC		0.507	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		13	29	0	0	0	0	13	29				
GYPB	2994	broad.mit.edu	37	4	145035857	145035857	+	Intron	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:145035857C>T	ENST00000283126.7	-	1	93				GYPA_ENST00000504786.1_Missense_Mutation_p.E109K|GYPA_ENST00000512064.1_Missense_Mutation_p.E128K|GYPA_ENST00000503627.1_Missense_Mutation_p.E96K|GYPA_ENST00000512789.1_Missense_Mutation_p.E76K|GYPA_ENST00000324022.10_Missense_Mutation_p.E108K|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000360771.4_Missense_Mutation_p.E141K|GYPA_ENST00000535709.1_Missense_Mutation_p.E115K			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					TTTTCTATTTCAACAGAACTT	0.353																																						uc003ijo.3		NA																	0				central_nervous_system(2)	2						c.(421-423)GAA>AAA		glycophorin A precursor							77.0	80.0	79.0					4																	145035857		2203	4300	6503	SO:0001627	intron_variant	2993				interspecies interaction between organisms	membrane fraction	receptor activity	g.chr4:145035857C>T		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+25894G>A	4.37:g.145035857C>T						GYPA_uc003ijn.2_Intron|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Missense_Mutation_p.E108K|GYPA_uc003ijp.3_Missense_Mutation_p.E109K|GYPA_uc010ioq.2_Missense_Mutation_p.E128K|GYPA_uc010ior.2_Missense_Mutation_p.E76K|GYPA_uc010ios.1_RNA	p.E141K	NM_002099	NP_002090	P02724	GLPA_HUMAN			6	537	-	all_hematologic(180;0.15)		141			Cytoplasmic.		B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000283126.7	37	c.421G>A		.	.	.	.	.	.	.	.	.	.	C	19.78	3.891659	0.72524	.	.	ENSG00000170180	ENST00000360771;ENST00000324022;ENST00000535709;ENST00000512064;ENST00000512789;ENST00000504786;ENST00000503627	T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.72	0.776	0.18532	.	0.000000	0.39544	N	0.001336	T	0.43166	0.1235	M	0.76328	2.33	0.09310	N	1	P;P;P;P;P	0.52316	0.952;0.952;0.952;0.952;0.952	P;P;P;P;P	0.60286	0.833;0.664;0.872;0.872;0.872	T	0.29119	-1.0022	10	0.87932	D	0	-19.0554	3.5068	0.07693	0.163:0.4296:0.3165:0.0909	.	108;76;128;109;141	B8Q185;Q13030;E9PD10;E7EQF3;P02724	.;.;.;.;GLPA_HUMAN	K	141;108;115;128;76;109;96	ENSP00000354003:E141K;ENSP00000324483:E108K;ENSP00000445398:E115K;ENSP00000426130:E128K;ENSP00000425193:E76K;ENSP00000425549:E109K;ENSP00000421243:E96K	ENSP00000324483:E108K	E	-	1	0	GYPA	145255307	0.004000	0.15560	0.009000	0.14445	0.735000	0.41995	0.053000	0.14184	0.001000	0.14605	0.585000	0.79938	GAA		0.353	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		11	26	0	0	0	0	11	26				
TLL1	7092	broad.mit.edu	37	4	166929097	166929097	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:166929097C>G	ENST00000061240.2	+	7	1461	c.814C>G	c.(814-816)Caa>Gaa	p.Q272E	TLL1_ENST00000507499.1_Missense_Mutation_p.Q272E|TLL1_ENST00000513213.1_Missense_Mutation_p.Q272E	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	272	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTTCTTAGGTCAAGAGTACAA	0.408																																						uc003irh.1		NA																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(814-816)CAA>GAA		tolloid-like 1 precursor							89.0	90.0	89.0					4																	166929097		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166929097C>G	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.814C>G	4.37:g.166929097C>G	ENSP00000061240:p.Gln272Glu					TLL1_uc011cjn.1_Missense_Mutation_p.Q272E|TLL1_uc011cjo.1_Missense_Mutation_p.Q96E	p.Q272E	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	7	1461	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	272			Metalloprotease (By similarity).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.814C>G	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412426	0.62511	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.63417	-0.04;-0.04;-0.04	5.29	5.29	0.74685	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.58380	0.2118	L	0.45285	1.41	0.80722	D	1	B;B	0.15141	0.012;0.009	B;B	0.12156	0.007;0.003	T	0.54970	-0.8213	10	0.51188	T	0.08	.	18.9969	0.92817	0.0:1.0:0.0:0.0	.	272;272	E9PD25;O43897	.;TLL1_HUMAN	E	272	ENSP00000061240:Q272E;ENSP00000426082:Q272E;ENSP00000422937:Q272E	ENSP00000061240:Q272E	Q	+	1	0	TLL1	167148547	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.773000	0.85462	2.488000	0.83962	0.650000	0.86243	CAA		0.408	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			17	39	0	0	0	0	17	39				
FAM149A	25854	broad.mit.edu	37	4	187086549	187086549	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:187086549C>A	ENST00000356371.5	+	11	1968	c.1968C>A	c.(1966-1968)agC>agA	p.S656R	FAM149A_ENST00000502970.1_Missense_Mutation_p.S365R|FAM149A_ENST00000514153.1_Missense_Mutation_p.S365R|FAM149A_ENST00000389354.5_Missense_Mutation_p.S365R|FAM149A_ENST00000227065.4_Missense_Mutation_p.S365R|FAM149A_ENST00000503432.1_Missense_Mutation_p.S365R			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	656										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CGTCACGGAGCAGGTTCCCCC	0.542																																						uc003iyt.3		NA																	0				breast(1)	1						c.(1093-1095)AGC>AGA		hypothetical protein LOC25854							111.0	102.0	105.0					4																	187086549		2203	4300	6503	SO:0001583	missense	25854							g.chr4:187086549C>A	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1968C>A	4.37:g.187086549C>A	ENSP00000348732:p.Ser656Arg					FAM149A_uc011cla.1_Missense_Mutation_p.S365R|FAM149A_uc003iyu.3_Missense_Mutation_p.S365R|FAM149A_uc010isl.2_Missense_Mutation_p.S365R|FAM149A_uc011clb.1_Missense_Mutation_p.S365R	p.S365R	NM_015398	NP_056213	A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	11	1674	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	656					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37	c.1095C>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.89|13.89|13.89	2.372682|2.372682|2.372682	0.42003|0.42003|0.42003	.|.|.	.|.|.	ENSG00000109794|ENSG00000109794|ENSG00000109794	ENST00000510843|ENST00000512271|ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	.|.|T;T;T;T;T;T	.|.|0.12465	.|.|2.73;2.68;2.73;2.73;2.73;2.73	5.55|5.55|5.55	4.71|4.71|4.71	0.59529|0.59529|0.59529	.|.|.	.|.|0.431901	.|.|0.27130	.|.|N	.|.|0.020784	T|T|T	0.27419|0.27419|0.27419	0.0673|0.0673|0.0673	M|M|M	0.63428|0.63428|0.63428	1.95|1.95|1.95	0.25418|0.25418|0.25418	N|N|N	0.988295|0.988295|0.988295	.|.|D;D	.|.|0.61080	.|.|0.986;0.989	.|.|P;P	.|.|0.57057	.|.|0.812;0.797	T|T|T	0.06144|0.06144|0.06144	-1.0843|-1.0843|-1.0843	5|5|10	.|.|0.59425	.|.|D	.|.|0.04	-3.5497|-3.5497|-3.5497	11.5598|11.5598|11.5598	0.50769|0.50769|0.50769	0.0:0.9172:0.0:0.0828|0.0:0.9172:0.0:0.0828|0.0:0.9172:0.0:0.0828	.|.|.	.|.|656;656	.|.|A5PLN7-3;A5PLN7	.|.|.;F149A_HUMAN	E|K|R	43|43|365;656;365;365;365;365	.|.|ENSP00000426835:S365R;ENSP00000348732:S656R;ENSP00000227065:S365R;ENSP00000427155:S365R;ENSP00000424380:S365R;ENSP00000374005:S365R	.|.|ENSP00000227065:S365R	A|Q|S	+|+|+	2|1|3	0|0|2	FAM149A|FAM149A|FAM149A	187323543|187323543|187323543	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.551000|0.551000|0.551000	0.28230|0.28230|0.28230	0.030000|0.030000|0.030000	0.12068|0.12068|0.12068	2.703000|2.703000|2.703000	0.47110|0.47110|0.47110	1.586000|1.586000|1.586000	0.49944|0.49944|0.49944	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|CAG|AGC		0.542	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		10	33	1	0	6.4e-05	6.82e-05	10	33				
ADCY2	108	broad.mit.edu	37	5	7773108	7773108	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr5:7773108G>C	ENST00000338316.4	+	18	2367	c.2278G>C	c.(2278-2280)Gag>Cag	p.E760Q	ADCY2_ENST00000537121.1_Missense_Mutation_p.E580Q	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	760					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGTAAACTATGAGCTGAAGAT	0.502																																						uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(2278-2280)GAG>CAG		adenylate cyclase 2							253.0	218.0	230.0					5																	7773108		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7773108G>C	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2278G>C	5.37:g.7773108G>C	ENSP00000342952:p.Glu760Gln					ADCY2_uc011cmo.1_Missense_Mutation_p.E580Q	p.E760Q	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			18	2345	+			760					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2278G>C	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378558	0.82682	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.81415	-1.01;-1.49	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.89160	0.6636	M	0.79258	2.445	0.53005	D	0.999968	D;D	0.89917	1.0;0.997	D;D	0.77557	0.99;0.969	D	0.89558	0.3804	10	0.48119	T	0.1	.	15.807	0.78520	0.0:0.0:1.0:0.0	.	580;760	B7Z2C1;Q08462	.;ADCY2_HUMAN	Q	760;593;580	ENSP00000342952:E760Q;ENSP00000444803:E580Q	ENSP00000342952:E760Q	E	+	1	0	ADCY2	7826108	1.000000	0.71417	0.802000	0.32245	0.914000	0.54420	9.023000	0.93683	2.261000	0.74972	0.467000	0.42956	GAG		0.502	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		30	75	0	0	0	0	30	75				
GPBP1	65056	broad.mit.edu	37	5	56546873	56546873	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr5:56546873G>C	ENST00000506184.2	+	10	2170	c.1065G>C	c.(1063-1065)gaG>gaC	p.E355D	GPBP1_ENST00000454432.2_Missense_Mutation_p.E375D|GPBP1_ENST00000511209.1_Missense_Mutation_p.E347D|GPBP1_ENST00000538707.1_Missense_Mutation_p.E362D|GPBP1_ENST00000424459.3_Missense_Mutation_p.E375D|GPBP1_ENST00000514387.2_Missense_Mutation_p.E184D|GPBP1_ENST00000264779.6_Missense_Mutation_p.E362D			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	355					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TTCCTCAAGAGAATGGCAATG	0.398																																						uc003jrh.3		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1063-1065)GAG>GAC		GC-rich promoter binding protein 1 isoform 1							107.0	100.0	102.0					5																	56546873		2202	4300	6502	SO:0001583	missense	65056				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:56546873G>C		CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.1065G>C	5.37:g.56546873G>C	ENSP00000421202:p.Glu355Asp					GPBP1_uc010iwg.2_Missense_Mutation_p.E375D|GPBP1_uc003jri.3_Missense_Mutation_p.E184D|GPBP1_uc003jrj.3_Missense_Mutation_p.E347D|GPBP1_uc003jrk.3_Missense_Mutation_p.E362D|GPBP1_uc003jrl.3_RNA	p.E355D	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)	10	2339	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)	355					A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	37	c.1065G>C	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003738	0.74932	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.50001	1.74;0.76;1.75;1.74;1.73;1.75;1.74	5.87	3.13	0.36017	.	0.157611	0.56097	D	0.000026	T	0.37732	0.1014	L	0.34521	1.04	0.38893	D	0.957153	D;B;B;B	0.56521	0.976;0.02;0.27;0.02	P;B;B;B	0.48400	0.576;0.034;0.147;0.023	T	0.18777	-1.0326	10	0.33141	T	0.24	-11.9697	5.6453	0.17586	0.2124:0.0:0.649:0.1385	.	375;362;347;355	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	D	375;184;355;375;347;362;362	ENSP00000401596:E375D;ENSP00000421709:E184D;ENSP00000421202:E355D;ENSP00000403522:E375D;ENSP00000422337:E347D;ENSP00000264779:E362D;ENSP00000440090:E362D	ENSP00000264779:E362D	E	+	3	2	GPBP1	56582630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.309000	0.43699	0.815000	0.34398	0.643000	0.83706	GAG		0.398	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		12	38	0	0	0	0	12	38				
CTNNA1	1495	broad.mit.edu	37	5	138260216	138260216	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr5:138260216G>C	ENST00000302763.7	+	12	1654	c.1564G>C	c.(1564-1566)Gat>Cat	p.D522H	CTNNA1_ENST00000518825.1_Missense_Mutation_p.D522H|CTNNA1_ENST00000540387.1_Missense_Mutation_p.D152H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.D419H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	522					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CATTTTGGAAGATGTGAACAA	0.473																																						uc003ldh.2		NA																	0				breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11						c.(1564-1566)GAT>CAT		catenin, alpha 1							47.0	45.0	46.0					5																	138260216		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138260216G>C	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1564G>C	5.37:g.138260216G>C	ENSP00000304669:p.Asp522His					CTNNA1_uc011cyx.1_Missense_Mutation_p.D419H|CTNNA1_uc011cyy.1_Missense_Mutation_p.D399H|CTNNA1_uc003ldi.2_Missense_Mutation_p.D220H|CTNNA1_uc003ldj.2_Missense_Mutation_p.D522H|CTNNA1_uc003ldl.2_Missense_Mutation_p.D152H	p.D522H	NM_001903	NP_001894	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		12	1659	+			522					Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.1564G>C	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803799	0.90623	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.71762	0.3378	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.984;1.0	T	0.68530	-0.5384	10	0.28530	T	0.3	-17.4247	19.3816	0.94540	0.0:0.0:1.0:0.0	.	522;399;522	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	H	419;522;522;507;522;152	ENSP00000347190:D419H;ENSP00000304669:D522H;ENSP00000427821:D522H;ENSP00000438476:D152H	ENSP00000304669:D522H	D	+	1	0	CTNNA1	138288115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.756000	0.94617	0.655000	0.94253	GAT		0.473	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		5	17	0	0	0	0	5	17				
SLC36A2	153201	broad.mit.edu	37	5	150723750	150723750	+	Silent	SNP	G	G	A	rs375216847		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr5:150723750G>A	ENST00000335244.4	-	2	372	c.243C>T	c.(241-243)aaC>aaT	p.N81N	SLC36A2_ENST00000521967.1_Silent_p.N81N	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	81					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GGATGCCCGCGTTCTTCACAG	0.547																																						uc003lty.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(241-243)AAC>AAT		solute carrier family 36, member 2		G		1,4405	2.1+/-5.4	0,1,2202	89.0	78.0	82.0		243	-10.1	0.3	5		82	0,8600		0,0,4300	no	coding-synonymous	SLC36A2	NM_181776.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		81/484	150723750	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150723750G>A	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.243C>T	5.37:g.150723750G>A						GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Translation_Start_Site|SLC36A2_uc010jhv.2_Silent_p.N81N|SLC36A2_uc011dct.1_Silent_p.N81N	p.N81N	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	373	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	81			Extracellular (Potential).		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	ENST00000335244.4	37	c.243C>T	CCDS4315.1																																																																																				0.547	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			5	17	0	0	0	0	5	17				
TRIM27	5987	broad.mit.edu	37	6	28871933	28871933	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:28871933G>A	ENST00000377199.3	-	8	1812	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	TRIM27_ENST00000377194.3_3'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	486	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						ATGATCAGAGGAGCTGCACTT	0.522			T	RET	papillary thyroid																																	uc003nlr.2		NA		Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		0				ovary(1)	1						c.(1456-1458)CCT>TCT		ret finger protein							113.0	123.0	120.0					6																	28871933		1509	2709	4218	SO:0001583	missense	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28871933G>A	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.1456C>T	6.37:g.28871933G>A	ENSP00000366404:p.Pro486Ser					TRIM27_uc003nls.2_3'UTR|TRIM27_uc003nlt.1_3'UTR	p.P486S	NM_006510	NP_006501	P14373	TRI27_HUMAN			8	1815	-			486			B30.2/SPRY.		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	c.1456C>T	CCDS4654.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.09|19.09	3.760250|3.760250	0.69763|0.69763	.|.	.|.	ENSG00000204713|ENSG00000204713	ENST00000377199|ENST00000414543	T|.	0.68479|.	-0.33|.	4.89|4.89	4.89|4.89	0.63831|0.63831	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);|.	0.000000|.	0.53938|.	D|.	0.000056|.	T|T	0.54498|0.54498	0.1862|0.1862	L|L	0.58302|0.58302	1.8|1.8	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.53114|0.53114	-0.8484|-0.8484	10|5	0.66056|.	D|.	0.02|.	.|.	12.1025|12.1025	0.53792|0.53792	0.0:0.1741:0.8259:0.0|0.0:0.1741:0.8259:0.0	.|.	486|.	P14373|.	TRI27_HUMAN|.	S|F	486|220	ENSP00000366404:P486S|.	ENSP00000366404:P486S|.	P|S	-|-	1|2	0|0	TRIM27|TRIM27	28979912|28979912	0.999000|0.999000	0.42202|0.42202	0.997000|0.997000	0.53966|0.53966	0.937000|0.937000	0.57800|0.57800	3.096000|3.096000	0.50243|0.50243	2.633000|2.633000	0.89246|0.89246	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.522	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		22	69	0	0	0	0	22	69				
TRERF1	55809	broad.mit.edu	37	6	42224469	42224469	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:42224469C>T	ENST00000372922.4	-	12	3139	c.2577G>A	c.(2575-2577)gtG>gtA	p.V859V	TRERF1_ENST00000354325.2_Silent_p.V776V|TRERF1_ENST00000541110.1_Silent_p.V879V|TRERF1_ENST00000340840.2_Silent_p.V776V|TRERF1_ENST00000372917.4_Silent_p.V776V	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	859	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTTACCATCACATCACCTT	0.403																																						uc003osd.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2575-2577)GTG>GTA		transcriptional regulating factor 1							112.0	106.0	108.0					6																	42224469		2203	4300	6503	SO:0001819	synonymous_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42224469C>T	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2577G>A	6.37:g.42224469C>T						TRERF1_uc011duq.1_Silent_p.V776V|TRERF1_uc003osb.2_Silent_p.V615V|TRERF1_uc003osc.2_Silent_p.V615V|TRERF1_uc003ose.2_Silent_p.V879V	p.V859V	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		12	3140	-	Colorectal(47;0.196)		859			ELM2.|Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	c.2577G>A	CCDS4867.1																																																																																				0.403	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		14	37	0	0	0	0	14	37				
RIMS1	22999	broad.mit.edu	37	6	72889449	72889449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:72889449C>T	ENST00000521978.1	+	5	643	c.643C>T	c.(643-645)Cga>Tga	p.R215*	RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R215*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R215*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.R215*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R215*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	215					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACTCCAAGAGCGATCGCGGTC	0.587																																						uc003pga.2		NA																	0				ovary(7)|pancreas(2)|breast(1)	10						c.(643-645)CGA>TGA		regulating synaptic membrane exocytosis 1							74.0	83.0	80.0					6																	72889449		2104	4237	6341	SO:0001587	stop_gained	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72889449C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.643C>T	6.37:g.72889449C>T	ENSP00000428417:p.Arg215*					RIMS1_uc011dyb.1_5'Flank|RIMS1_uc003pgc.2_5'Flank|RIMS1_uc003pgb.3_5'Flank	p.R215*	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			5	720	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	215					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	c.643C>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	36	5.651637	0.96714	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	.	.	.	5.65	4.75	0.60458	.	0.000000	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.135	13.9204	0.63928	0.378:0.622:0.0:0.0	.	.	.	.	X	215	.	ENSP00000264839:R215X	R	+	1	2	RIMS1	72946170	0.999000	0.42202	0.998000	0.56505	0.950000	0.60333	0.725000	0.25970	2.668000	0.90789	0.655000	0.94253	CGA		0.587	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			12	40	0	0	0	0	12	40				
BEND3	57673	broad.mit.edu	37	6	107390676	107390676	+	Silent	SNP	G	G	A	rs370245100		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:107390676G>A	ENST00000369042.1	-	4	1909	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	BEND3_ENST00000429433.2_Silent_p.F573F			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	573	BEN 3. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGCGCGAGGCGAAGTTGCCGA	0.637																																						uc003prs.2		NA																	0				ovary(3)	3						c.(1717-1719)TTC>TTT		BEN domain containing 3							54.0	53.0	53.0					6																	107390676		2203	4300	6503	SO:0001819	synonymous_variant	57673							g.chr6:107390676G>A	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1719C>T	6.37:g.107390676G>A							p.F573F	NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN			5	2369	-			573			BEN 3.		A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.1719C>T	CCDS34507.1																																																																																				0.637	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		27	40	0	0	0	0	27	40				
MAP7	9053	broad.mit.edu	37	6	136687111	136687111	+	Silent	SNP	C	C	T	rs143331676	byFrequency	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:136687111C>T	ENST00000354570.3	-	10	1445	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	MAP7_ENST00000454590.1_Silent_p.P367P|MAP7_ENST00000438100.2_Silent_p.P330P|RP3-406A7.3_ENST00000571188.1_RNA|MAP7_ENST00000432797.2_Silent_p.P199P|MAP7_ENST00000544465.1_Silent_p.P330P	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	345	Pro-rich.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGGAGGATGTCGGTCTGGGTG	0.592													C|||	3	0.000599042	0.0023	0.0	5008	,	,		16974	0.0		0.0	False		,,,				2504	0.0					uc003qgz.2		NA																	0					0						c.(1033-1035)CCG>CCA		microtubule-associated protein 7		C	,,,,,,,,,	6,4400	9.9+/-24.2	0,6,2197	64.0	61.0	62.0		1101,1125,990,1101,990,924,753,597,597,1035	-11.6	0.0	6	dbSNP_134	62	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MAP7	NM_001198608.1,NM_001198609.1,NM_001198611.1,NM_001198614.1,NM_001198615.1,NM_001198616.1,NM_001198617.1,NM_001198618.1,NM_001198619.1,NM_003980.4	,,,,,,,,,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,,,,,,,,,	367/772,375/780,330/735,367/772,330/735,308/713,251/656,199/604,199/604,345/750	136687111	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136687111C>T	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1035G>A	6.37:g.136687111C>T						MAP7_uc011edf.1_Silent_p.P330P|MAP7_uc011edg.1_Silent_p.P375P|MAP7_uc010kgu.2_Silent_p.P367P|MAP7_uc011edh.1_Silent_p.P330P|MAP7_uc010kgv.2_Silent_p.P367P|MAP7_uc010kgs.2_Silent_p.P199P|MAP7_uc011edi.1_Silent_p.P199P|MAP7_uc010kgq.1_Silent_p.P251P|MAP7_uc003qha.1_Silent_p.P308P|MAP7_uc010kgr.2_Silent_p.P199P	p.P345P	NM_003980	NP_003971	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	10	1281	-	Colorectal(23;0.24)		345			Pro-rich.		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Silent	SNP	ENST00000354570.3	37	c.1035G>A	CCDS5178.1																																																																																				0.592	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		15	42	0	0	0	0	15	42				
HBP1	26959	broad.mit.edu	37	7	106826299	106826299	+	Missense_Mutation	SNP	G	G	A	rs151293151		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:106826299G>A	ENST00000222574.4	+	4	638	c.452G>A	c.(451-453)cGc>cAc	p.R151H	HBP1_ENST00000485846.1_Missense_Mutation_p.R151H|HBP1_ENST00000468410.1_Missense_Mutation_p.R151H	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	151					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TCCTATGCACGCCCTCCACCA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		18822	0.0		0.001	False		,,,				2504	0.0					uc003vdy.2		NA																	0				skin(1)	1						c.(451-453)CGC>CAC		HMG-box transcription factor 1							181.0	160.0	167.0					7																	106826299		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106826299G>A	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.452G>A	7.37:g.106826299G>A	ENSP00000222574:p.Arg151His					HBP1_uc011klv.1_Missense_Mutation_p.R161H|HBP1_uc003vdz.2_Missense_Mutation_p.R151H|HBP1_uc003vea.2_Missense_Mutation_p.R151H|HBP1_uc003veb.1_Missense_Mutation_p.R151H	p.R151H	NM_012257	NP_036389	O60381	HBP1_HUMAN			4	638	+			151					B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.452G>A	CCDS5741.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.742618	0.96873	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99194	-5.54;-5.54;-5.54	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.98820	0.9602	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.982;0.959	D	0.99918	1.1239	10	0.72032	D	0.01	-10.6874	20.8794	0.99867	0.0:0.0:1.0:0.0	.	161;151;151	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	H	151;151;151;143	ENSP00000420500:R151H;ENSP00000222574:R151H;ENSP00000418738:R151H	ENSP00000222574:R151H	R	+	2	0	HBP1	106613535	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.414000	0.97362	2.941000	0.99782	0.655000	0.94253	CGC		0.423	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		39	61	0	0	0	0	39	61				
NOS3	4846	broad.mit.edu	37	7	150695737	150695737	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:150695737G>A	ENST00000484524.1	+	6	785	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	NOS3_ENST00000461406.1_Missense_Mutation_p.R56Q|NOS3_ENST00000297494.3_Missense_Mutation_p.R262Q|NOS3_ENST00000467517.1_Missense_Mutation_p.R262Q	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCTCTGTGCGGGGGGACCCA	0.652																																						uc003wif.2		NA																	0				central_nervous_system(5)|large_intestine(2)|skin(1)	8						c.(784-786)CGG>CAG		nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						13.0	13.0	13.0					7																	150695737		2178	4274	6452	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150695737G>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.785G>A	7.37:g.150695737G>A	ENSP00000420215:p.Arg262Gln					NOS3_uc011kuy.1_Missense_Mutation_p.R56Q|NOS3_uc011kuz.1_Missense_Mutation_p.R262Q|NOS3_uc011kva.1_Missense_Mutation_p.R262Q|NOS3_uc011kvb.1_Missense_Mutation_p.R262Q	p.R262Q	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	1081	+	all_neural(206;0.219)		262			Interaction with NOSIP.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.785G>A	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	g	15.18	2.756054	0.49362	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.0	2.0	0.26442	Nitric oxide synthase, oxygenase domain (2);	0.306973	0.22925	N	0.053964	T	0.07908	0.0198	N	0.03608	-0.345	0.30076	N	0.809627	B;B;B;B;B	0.15930	0.001;0.001;0.004;0.002;0.015	B;B;B;B;B	0.08055	0.0;0.001;0.003;0.001;0.0	T	0.09228	-1.0684	10	0.46703	T	0.11	-9.7242	5.7049	0.17903	0.094:0.0:0.4347:0.4713	.	262;262;262;56;262	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	Q	262;56;262;262	ENSP00000297494:R262Q;ENSP00000417143:R56Q;ENSP00000420215:R262Q;ENSP00000420551:R262Q	ENSP00000297494:R262Q	R	+	2	0	NOS3	150326670	0.737000	0.28175	0.956000	0.39512	0.788000	0.44548	2.139000	0.42149	1.225000	0.43566	0.542000	0.68232	CGG		0.652	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		3	8	0	0	0	0	3	8				
SHH	6469	broad.mit.edu	37	7	155599120	155599120	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:155599120G>A	ENST00000297261.2	-	2	582	c.432C>T	c.(430-432)cgC>cgT	p.R144R	SHH_ENST00000472308.1_5'Flank	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	144			R -> P (in HPE3). {ECO:0000269|PubMed:19603532}.		androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCCACTGCGCGGCCCTCGT	0.642																																						uc003wmk.1		NA																	0				central_nervous_system(3)|lung(1)	4						c.(430-432)CGC>CGT		sonic hedgehog preproprotein							113.0	86.0	95.0					7																	155599120		2203	4300	6503	SO:0001819	synonymous_variant	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155599120G>A		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.432C>T	7.37:g.155599120G>A						SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Silent_p.R57R|SHH_uc003wmj.1_Silent_p.R57R	p.R144R	NM_000193	NP_000184	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	583	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	144		R -> P (in HPE3).			A4D247|Q75MC9	Silent	SNP	ENST00000297261.2	37	c.432C>T	CCDS5942.1																																																																																				0.642	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		13	18	0	0	0	0	13	18				
TNKS	8658	broad.mit.edu	37	8	9564372	9564372	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:9564372G>A	ENST00000310430.6	+	8	1347	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	TNKS_ENST00000518281.1_Missense_Mutation_p.E204K|TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000520408.1_Missense_Mutation_p.E441K	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	441					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TCCACTGCACGAGGCTGCTTC	0.438																																						uc003wss.2		NA																	0				lung(4)|ovary(2)|kidney(1)	7						c.(1321-1323)GAG>AAG		tankyrase, TRF1-interacting ankyrin-related							114.0	98.0	103.0					8																	9564372		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9564372G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1321G>A	8.37:g.9564372G>A	ENSP00000311579:p.Glu441Lys					TNKS_uc011kwv.1_Missense_Mutation_p.E441K|TNKS_uc011kww.1_Missense_Mutation_p.E204K	p.E441K	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	8	1326	+			441			ANK 6.		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.1321G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928454	0.92389	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	T;T;T	0.64803	-0.12;-0.12;-0.12	5.67	5.67	0.87782	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	N	0.21373	0.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66693	-0.5859	10	0.33141	T	0.24	.	20.1421	0.98061	0.0:0.0:1.0:0.0	.	441;441	E7EWY6;O95271	.;TNKS1_HUMAN	K	441;441;204	ENSP00000428299:E441K;ENSP00000311579:E441K;ENSP00000429890:E204K	ENSP00000311579:E441K	E	+	1	0	TNKS	9601782	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.792000	0.99085	2.836000	0.97738	0.655000	0.94253	GAG		0.438	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		20	66	0	0	0	0	20	66				
DPYS	1807	broad.mit.edu	37	8	105393527	105393527	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:105393527G>C	ENST00000351513.2	-	9	1591	c.1459C>G	c.(1459-1461)Cct>Gct	p.P487A	DPYS_ENST00000521601.1_5'UTR	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	487					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CGCTCCACAGGGGTAGGTGTG	0.473																																						uc003yly.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1459-1461)CCT>GCT		dihydropyrimidinase							191.0	165.0	174.0					8																	105393527		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105393527G>C	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1459C>G	8.37:g.105393527G>C	ENSP00000276651:p.Pro487Ala					DPYS_uc010mcf.1_Missense_Mutation_p.P57A	p.P487A	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		9	1588	-			487						Missense_Mutation	SNP	ENST00000351513.2	37	c.1459C>G	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	G	9.958	1.221943	0.22457	.	.	ENSG00000147647	ENST00000351513	D	0.97186	-4.28	5.85	4.95	0.65309	Metal-dependent hydrolase, composite domain (1);	0.108909	0.64402	D	0.000005	D	0.89808	0.6822	N	0.04508	-0.205	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.72707	-0.4212	10	0.07482	T	0.82	-16.6013	14.1177	0.65164	0.0:0.1493:0.8507:0.0	.	487	Q14117	DPYS_HUMAN	A	487	ENSP00000276651:P487A	ENSP00000276651:P487A	P	-	1	0	DPYS	105462703	0.988000	0.35896	0.062000	0.19696	0.496000	0.33645	3.207000	0.51106	2.771000	0.95319	0.561000	0.74099	CCT		0.473	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		13	53	0	0	0	0	13	53				
EXT1	2131	broad.mit.edu	37	8	119123160	119123160	+	Silent	SNP	A	A	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:119123160A>T	ENST00000378204.2	-	1	932	c.126T>A	c.(124-126)ggT>ggA	p.G42G		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	42					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AGCCATTCCTACCGCTGTGTT	0.562			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													uc003yok.1		NA	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	Mis|N|F|S	multiple exostoses type 1 gene			M		exostoses|osteosarcoma			0				ovary(2)|lung(2)	4						c.(124-126)GGT>GGA		exostosin 1							47.0	50.0	49.0					8																	119123160		2203	4300	6503	SO:0001819	synonymous_variant	2131	Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:119123160A>T	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.126T>A	8.37:g.119123160A>T							p.G42G	NM_000127	NP_000118	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		1	899	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		42			Lumenal (Potential).		B2R7V2|Q9BVI9	Silent	SNP	ENST00000378204.2	37	c.126T>A	CCDS6324.1																																																																																				0.562	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		7	30	0	0	0	0	7	30				
FAM135B	51059	broad.mit.edu	37	8	139268962	139268962	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:139268962A>G	ENST00000395297.1	-	5	508	c.338T>C	c.(337-339)gTg>gCg	p.V113A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	113										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTGCAGATCCACCTTGAGTTG	0.438										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(337-339)GTG>GCG		hypothetical protein LOC51059							115.0	108.0	110.0					8																	139268962		1955	4157	6112	SO:0001583	missense	51059							g.chr8:139268962A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.338T>C	8.37:g.139268962A>G	ENSP00000378710:p.Val113Ala	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.V14A|FAM135B_uc003yuz.2_RNA	p.V113A	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		5	509	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		113					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.338T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006905	0.74932	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.15952	2.38	5.35	5.35	0.76521	.	0.085622	0.47852	D	0.000218	T	0.17959	0.0431	L	0.39898	1.24	0.44061	D	0.996802	P	0.42456	0.78	B	0.40602	0.334	T	0.01345	-1.1379	10	0.72032	D	0.01	-7.4079	14.7999	0.69906	1.0:0.0:0.0:0.0	.	113	Q49AJ0	F135B_HUMAN	A	113	ENSP00000378710:V113A	ENSP00000160713:V113A	V	-	2	0	FAM135B	139338144	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.084000	0.94076	2.150000	0.67090	0.533000	0.62120	GTG		0.438	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		3	25	0	0	0	0	3	25				
TRAPPC9	83696	broad.mit.edu	37	8	141370156	141370156	+	Silent	SNP	C	C	G	rs201180771		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:141370156C>G	ENST00000438773.2	-	9	1621	c.1488G>C	c.(1486-1488)tcG>tcC	p.S496S	TRAPPC9_ENST00000389328.4_Silent_p.S594S|TRAPPC9_ENST00000389327.3_Silent_p.S487S	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	496					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CACCCTGATCCGACAAGAAGT	0.498																																						uc003yvj.2		NA																	0				skin(2)	2						c.(1486-1488)TCG>TCC		trafficking protein particle complex 9 isoform							104.0	94.0	97.0					8																	141370156		2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141370156C>G	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1488G>C	8.37:g.141370156C>G						TRAPPC9_uc003yvh.2_Silent_p.S594S|TRAPPC9_uc003yvi.1_Silent_p.S487S	p.S496S	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN			9	1622	-			496					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.1488G>C	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	C	4.765	0.142324	0.09083	.	.	ENSG00000167632	ENST00000520857	.	.	.	5.12	-10.2	0.00374	.	.	.	.	.	T	0.30324	0.0761	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41893	-0.9483	4	.	.	.	.	0.2067	0.00151	0.3021:0.2394:0.2161:0.2424	.	.	.	.	R	340	.	.	G	-	1	0	TRAPPC9	141439338	0.001000	0.12720	0.109000	0.21407	0.766000	0.43426	-1.793000	0.01755	-2.985000	0.00281	-2.232000	0.00291	GGA		0.498	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		18	64	0	0	0	0	18	64				
PLEC	5339	broad.mit.edu	37	8	144992793	144992793	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:144992793G>A	ENST00000322810.4	-	32	11776	c.11607C>T	c.(11605-11607)ttC>ttT	p.F3869F	PLEC_ENST00000354958.2_Silent_p.F3710F|PLEC_ENST00000354589.3_Silent_p.F3732F|PLEC_ENST00000398774.2_Silent_p.F3700F|PLEC_ENST00000527096.1_Silent_p.F3755F|PLEC_ENST00000345136.3_Silent_p.F3732F|PLEC_ENST00000436759.2_Silent_p.F3759F|PLEC_ENST00000356346.3_Silent_p.F3718F|PLEC_ENST00000357649.2_Silent_p.F3736F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3869	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGTCCAGCAGGAAGCCTGTGG	0.672																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(11605-11607)TTC>TTT		plectin isoform 1							21.0	26.0	25.0					8																	144992793		1792	3815	5607	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144992793G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11607C>T	8.37:g.144992793G>A						PLEC_uc003zab.1_Silent_p.F3732F|PLEC_uc003zac.1_Silent_p.F3736F|PLEC_uc003zad.2_Silent_p.F3732F|PLEC_uc003zae.1_Silent_p.F3700F|PLEC_uc003zag.1_Silent_p.F3710F|PLEC_uc003zah.2_Silent_p.F3718F|PLEC_uc003zaj.2_Silent_p.F3759F	p.F3869F	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	11777	-			3869			Globular 2.|Plectin 18.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.11607C>T	CCDS43772.1																																																																																				0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		10	33	0	0	0	0	10	33				
TLN1	7094	broad.mit.edu	37	9	35720835	35720835	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:35720835C>T	ENST00000314888.9	-	11	1533	c.1180G>A	c.(1180-1182)Ggc>Agc	p.G394S	TLN1_ENST00000540444.1_Missense_Mutation_p.G394S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	394	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with LAYN. {ECO:0000250}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCGATGTAGCCGGCAATGAGC	0.512																																						uc003zxt.2		NA																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(1180-1182)GGC>AGC		talin 1							161.0	136.0	144.0					9																	35720835		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35720835C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.1180G>A	9.37:g.35720835C>T	ENSP00000316029:p.Gly394Ser						p.G394S	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		11	1534	-	all_epithelial(49;0.167)		394			FERM.|Interaction with LAYN (By similarity).		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.1180G>A	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435383	0.96150	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	D;D	0.82984	-1.67;-1.67	5.71	4.82	0.62117	FERM domain (1);Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (1);	0.000000	0.85682	D	0.000000	D	0.92057	0.7483	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.93483	0.6829	10	0.87932	D	0	-19.2048	14.8063	0.69959	0.0:0.931:0.0:0.069	.	394	Q9Y490	TLN1_HUMAN	S	394	ENSP00000316029:G394S;ENSP00000442981:G394S	ENSP00000316029:G394S	G	-	1	0	TLN1	35710835	1.000000	0.71417	0.949000	0.38748	0.992000	0.81027	7.810000	0.86072	1.432000	0.47375	0.655000	0.94253	GGC		0.512	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		9	95	0	0	0	0	9	95				
SPATA31D1	389763	broad.mit.edu	37	9	84605930	84605930	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:84605930A>T	ENST00000344803.2	+	4	592	c.545A>T	c.(544-546)gAa>gTa	p.E182V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	182	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACCCCTCCAGAAGACCTAATA	0.547																																						uc004amn.2		NA																	0					0						c.(544-546)GAA>GTA		hypothetical protein LOC389763							117.0	116.0	116.0					9																	84605930		1937	4139	6076	SO:0001583	missense	389763					integral to membrane		g.chr9:84605930A>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.545A>T	9.37:g.84605930A>T	ENSP00000341988:p.Glu182Val						p.E182V	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	592	+			182			Pro-rich.			Missense_Mutation	SNP	ENST00000344803.2	37	c.545A>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894850	0.33442	.	.	ENSG00000214929	ENST00000344803	T	0.05513	3.43	3.1	-0.979	0.10276	.	1.415530	0.04905	N	0.452142	T	0.06645	0.0170	L	0.40543	1.245	0.09310	N	1	P	0.52316	0.952	B	0.44315	0.446	T	0.29792	-1.0000	10	0.37606	T	0.19	-0.3351	3.1028	0.06331	0.4212:0.2228:0.356:0.0	.	182	Q6ZQQ2	F75D1_HUMAN	V	182	ENSP00000341988:E182V	ENSP00000341988:E182V	E	+	2	0	FAM75D1	83795750	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.101000	0.15251	-0.164000	0.10927	-0.426000	0.05927	GAA		0.547	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		20	59	0	0	0	0	20	59				
FBP1	2203	broad.mit.edu	37	9	97369181	97369181	+	Silent	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:97369181A>G	ENST00000375326.4	-	5	817	c.621T>C	c.(619-621)ggT>ggC	p.G207G	FBP1_ENST00000415431.1_Silent_p.G207G	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	207					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TGTAGATTTTACCTTTCTTTT	0.512																																					Ovarian(142;590 2466 25593 44496)	uc004auw.3		NA																	0					0						c.(619-621)GGT>GGC		fructose-1,6-bisphosphatase 1	Adenosine monophosphate(DB00131)						148.0	137.0	141.0					9																	97369181		2203	4300	6503	SO:0001819	synonymous_variant	2203				gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	g.chr9:97369181A>G	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.621T>C	9.37:g.97369181A>G						FBP1_uc010mrl.2_Silent_p.G207G	p.G207G	NM_000507	NP_000498	P09467	F16P1_HUMAN			5	952	-		Acute lymphoblastic leukemia(62;0.136)	207					O75571|Q53F94|Q96E46	Silent	SNP	ENST00000375326.4	37	c.621T>C	CCDS6712.1																																																																																				0.512	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1	NM_000507		39	45	0	0	0	0	39	45				
CCDC180	100499483	broad.mit.edu	37	9	100071844	100071844	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:100071844G>A	ENST00000357054.1	+	17	1702	c.767G>A	c.(766-768)aGc>aAc	p.S256N	CCDC180_ENST00000395220.1_Missense_Mutation_p.S256N|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Missense_Mutation_p.S117N|CCDC180_ENST00000529487.1_Missense_Mutation_p.S117N|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.S117N			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	256						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGGATGCACAGCCTCCCCAAC	0.547																																						uc011lut.1		NA																	0		p.S256R(1)		ovary(4)|large_intestine(2)|skin(1)	7						c.(766-768)AGC>AAC		hypothetical protein LOC57653							99.0	77.0	84.0					9																	100071844		2203	4300	6503	SO:0001583	missense	57653							g.chr9:100071844G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.767G>A	9.37:g.100071844G>A	ENSP00000349562:p.Ser256Asn					KIAA1529_uc004axe.1_Missense_Mutation_p.S256N|KIAA1529_uc004axg.1_Missense_Mutation_p.S117N|KIAA1529_uc011lus.1_Missense_Mutation_p.S117N|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.S117N|KIAA1529_uc011luv.1_Missense_Mutation_p.S117N	p.S256N	NM_020893	NP_065944					15	1540	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.767G>A		.	.	.	.	.	.	.	.	.	.	G	8.473	0.857912	0.17178	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.23552	2.69;1.9;2.72;2.34;2.72	4.71	3.75	0.43078	.	0.000000	0.45606	D	0.000347	T	0.25680	0.0625	L	0.60455	1.87	0.25867	N	0.983752	P;P;P;P	0.50272	0.933;0.835;0.933;0.835	B;B;B;B	0.43728	0.429;0.429;0.429;0.429	T	0.13019	-1.0525	10	0.21014	T	0.42	-16.4152	11.4636	0.50225	0.0:0.1826:0.8174:0.0	.	117;256;117;256	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	N	256;256;117;117;140;117	ENSP00000349562:S256N;ENSP00000378646:S256N;ENSP00000364348:S117N;ENSP00000414000:S117N;ENSP00000434727:S117N	ENSP00000349562:S256N	S	+	2	0	C9orf174	99111665	1.000000	0.71417	0.983000	0.44433	0.171000	0.22731	3.583000	0.53928	2.346000	0.79739	0.561000	0.74099	AGC		0.547	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		13	38	0	0	0	0	13	38				
ZBTB43	23099	broad.mit.edu	37	9	129596134	129596134	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:129596134C>T	ENST00000373464.4	+	3	1610	c.1346C>T	c.(1345-1347)tCt>tTt	p.S449F	ZBTB43_ENST00000373457.1_Missense_Mutation_p.S449F|ZBTB43_ENST00000449886.1_Missense_Mutation_p.S449F	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	449					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(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CATGTGACTTCTTGTACTAAG	0.443																																						uc004bql.2		NA																	0				ovary(1)	1						c.(1345-1347)TCT>TTT		zinc finger and BTB domain containing 43							125.0	130.0	128.0					9																	129596134		2202	4295	6497	SO:0001583	missense	23099				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129596134C>T	AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.1346C>T	9.37:g.129596134C>T	ENSP00000362563:p.Ser449Phe					ZBTB43_uc010mxf.2_Missense_Mutation_p.S449F	p.S449F	NM_014007	NP_054726	O43298	ZBT43_HUMAN			3	1619	+			449			C2H2-type 3; atypical.		Q5JU96	Missense_Mutation	SNP	ENST00000373464.4	37	c.1346C>T	CCDS6867.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827174	0.50739	.	.	ENSG00000169155	ENST00000449886;ENST00000373464;ENST00000373457	T;T;T	0.12147	2.71;2.71;2.71	5.83	4.94	0.65067	Zinc finger, C2H2 (1);	0.066653	0.64402	D	0.000007	T	0.11024	0.0269	N	0.19112	0.55	0.42207	D	0.99179	B	0.17852	0.024	B	0.11329	0.006	T	0.06023	-1.0850	10	0.59425	D	0.04	.	14.9038	0.70703	0.0:0.9314:0.0:0.0686	.	449	O43298	ZBT43_HUMAN	F	449	ENSP00000390344:S449F;ENSP00000362563:S449F;ENSP00000362556:S449F	ENSP00000362556:S449F	S	+	2	0	ZBTB43	128635955	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.221000	0.65272	1.478000	0.48253	-0.136000	0.14681	TCT		0.443	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776		37	127	0	0	0	0	37	127				
PMPCA	23203	broad.mit.edu	37	9	139311437	139311437	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:139311437G>A	ENST00000371717.3	+	7	677	c.668G>A	c.(667-669)cGt>cAt	p.R223H	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.R92H	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	223					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GGCCTCCACCGTTTCTGCCCC	0.562																																						uc004chl.2		NA																	0					0						c.(667-669)CGT>CAT		peptidase (mitochondrial processing) alpha							68.0	48.0	55.0					9																	139311437		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139311437G>A	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.668G>A	9.37:g.139311437G>A	ENSP00000360782:p.Arg223His					PMPCA_uc010nbl.2_Missense_Mutation_p.R123H|PMPCA_uc011mdz.1_Missense_Mutation_p.R92H|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank	p.R223H	NM_015160	NP_055975	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	7	673	+		Myeloproliferative disorder(178;0.0821)	223					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.668G>A	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	G	34	5.333421	0.95758	.	.	ENSG00000165688	ENST00000371717;ENST00000399219	T;T	0.17213	2.29;2.29	5.81	5.81	0.92471	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.31009	0.0783	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.71414	0.915;0.973;0.973	T	0.01363	-1.1374	10	0.46703	T	0.11	.	19.0511	0.93046	0.0:0.0:1.0:0.0	.	92;223;223	B4DKL3;Q5SXM9;Q10713	.;.;MPPA_HUMAN	H	223;92	ENSP00000360782:R223H;ENSP00000416702:R92H	ENSP00000360782:R223H	R	+	2	0	PMPCA	138431258	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.520000	0.98027	2.740000	0.93945	0.609000	0.83330	CGT		0.562	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		7	32	0	0	0	0	7	32				
ABCA2	20	broad.mit.edu	37	9	139912245	139912245	+	Silent	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:139912245G>C	ENST00000371605.3	-	15	2349	c.2202C>G	c.(2200-2202)ctC>ctG	p.L734L	ABCA2_ENST00000265662.5_Silent_p.L735L|ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_Silent_p.L735L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	734					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCACCTCCTTGAGCCGGTGCT	0.692																																						uc011mem.1		NA																	0					0						c.(2200-2202)CTC>CTG		ATP-binding cassette, sub-family A, member 2							26.0	28.0	28.0					9																	139912245		2045	4169	6214	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139912245G>C	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2202C>G	9.37:g.139912245G>C						ABCA2_uc011mel.1_Silent_p.L735L|ABCA2_uc004ckl.1_Silent_p.L665L|ABCA2_uc004ckm.1_Silent_p.L765L|ABCA2_uc004ckn.1_RNA	p.L734L	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	15	2350	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	734					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.2202C>G																																																																																					0.692	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		5	15	0	0	0	0	5	15				
FAM47C	442444	broad.mit.edu	37	X	37026576	37026576	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:37026576G>A	ENST00000358047.3	+	1	145	c.93G>A	c.(91-93)gcG>gcA	p.A31A		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	31										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTACTTCGCGAAGCGCAAGC	0.642																																						uc004ddl.1		NA																	0				ovary(3)	3						c.(91-93)GCG>GCA		hypothetical protein LOC442444							27.0	26.0	26.0					X																	37026576		2202	4297	6499	SO:0001819	synonymous_variant	442444							g.chrX:37026576G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.93G>A	X.37:g.37026576G>A							p.A31A	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	107	+			31					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.93G>A	CCDS35227.1																																																																																				0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		12	10	0	0	0	0	12	10				
SPANXN5	494197	broad.mit.edu	37	X	52825613	52825613	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:52825613G>C	ENST00000375511.3	-	2	886	c.134C>G	c.(133-135)aCa>aGa	p.T45R		NM_001009616.3	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	45										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					ATATTCTGATGTTTTCATCTT	0.393																																						uc004drc.1		NA																	0					0						c.(133-135)ACA>AGA		SPANX family, member N5							211.0	176.0	188.0					X																	52825613		2203	4300	6503	SO:0001583	missense	494197							g.chrX:52825613G>C		CCDS35295.1	Xp11.22	2009-03-25				ENSG00000204363			33178	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 10"""	300668				14973187, 17012309	Standard	NM_001009616		Approved	SPANX-N5, CT11.10	uc004drc.1	Q5MJ07		ENST00000375511.3:c.134C>G	X.37:g.52825613G>C	ENSP00000364661:p.Thr45Arg						p.T45R	NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN			2	134	-	Ovarian(276;0.236)		45						Missense_Mutation	SNP	ENST00000375511.3	37	c.134C>G	CCDS35295.1	.	.	.	.	.	.	.	.	.	.	g	5.610	0.297235	0.10622	.	.	ENSG00000204363	ENST00000375511	T	0.11495	2.77	0.199	-0.397	0.12423	.	.	.	.	.	T	0.11623	0.0283	.	.	.	0.09310	N	1	P	0.49559	0.925	P	0.48270	0.572	T	0.15037	-1.0451	7	0.52906	T	0.07	.	.	.	.	.	45	Q5MJ07	SPXN5_HUMAN	R	45	ENSP00000364661:T45R	ENSP00000364661:T45R	T	-	2	0	SPANXN5	52842338	0.080000	0.21391	0.006000	0.13384	0.006000	0.05464	0.227000	0.17795	-0.909000	0.03852	-0.915000	0.02750	ACA		0.393	SPANXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056690.2	NM_001009616		3	47	0	0	0	0	3	47				
HUWE1	10075	broad.mit.edu	37	X	53563194	53563194	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:53563194C>T	ENST00000342160.3	-	79	12902	c.12445G>A	c.(12445-12447)Gaa>Aaa	p.E4149K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E4149K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4149	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGTAATCTTCACTCTCCATA	0.448																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(12445-12447)GAA>AAA		HECT, UBA and WWE domain containing 1							143.0	102.0	116.0					X																	53563194		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53563194C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12445G>A	X.37:g.53563194C>T	ENSP00000340648:p.Glu4149Lys					HUWE1_uc004dsn.2_Missense_Mutation_p.E2957K	p.E4149K	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			80	12847	-			4149			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12445G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531718	0.64972	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.57107	0.42;0.42	5.57	5.57	0.84162	HECT (4);	0.000000	0.85682	D	0.000000	T	0.75369	0.3840	M	0.83953	2.67	0.80722	D	1	D;D	0.69078	0.987;0.997	D;D	0.78314	0.988;0.991	T	0.78558	-0.2158	10	0.62326	D	0.03	.	17.4833	0.87680	0.0:1.0:0.0:0.0	.	4149;4133	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	K	4149	ENSP00000340648:E4149K;ENSP00000262854:E4149K	ENSP00000262854:E4149K	E	-	1	0	HUWE1	53579919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.231000	0.78106	2.485000	0.83878	0.594000	0.82650	GAA		0.448	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		11	22	0	0	0	0	11	22				
CHM	1121	broad.mit.edu	37	X	85302517	85302517	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:85302517G>A	ENST00000357749.2	-	1	49	c.20C>T	c.(19-21)tCg>tTg	p.S7L	CHM_ENST00000537751.1_5'UTR|CHM_ENST00000358786.4_Missense_Mutation_p.S7L|CHM_ENST00000467744.2_5'Flank	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	7					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				ATCAAACTCCGAAGGGAGAGT	0.468																																						uc004eet.2		NA																	0				ovary(1)	1						c.(19-21)TCG>TTG		choroideremia isoform a							121.0	71.0	88.0					X																	85302517		2203	4300	6503	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85302517G>A	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.20C>T	X.37:g.85302517G>A	ENSP00000350386:p.Ser7Leu					CHM_uc011mqz.1_5'UTR|CHM_uc004eeu.3_5'Flank|CHM_uc004eev.3_Missense_Mutation_p.S7L	p.S7L	NM_000390	NP_000381	P24386	RAE1_HUMAN			1	50	-		all_lung(315;5.41e-06)	7					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.20C>T	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809131	0.70797	.	.	ENSG00000188419	ENST00000357749;ENST00000358786	D;D	0.85861	-2.04;-2.04	5.06	4.2	0.49525	.	0.145674	0.47852	D	0.000213	D	0.86062	0.5843	L	0.61218	1.895	0.80722	D	1	D;D	0.59767	0.986;0.981	P;B	0.49887	0.625;0.385	D	0.86071	0.1538	10	0.52906	T	0.07	-3.4824	12.6404	0.56707	0.0827:0.0:0.9173:0.0	.	7;7	A1L4D2;P24386	.;RAE1_HUMAN	L	7	ENSP00000350386:S7L;ENSP00000362228:S7L	ENSP00000350386:S7L	S	-	2	0	CHM	85189173	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	4.392000	0.59659	1.122000	0.41944	-0.176000	0.13171	TCG		0.468	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		7	4	0	0	0	0	7	4				
IGSF1	3547	broad.mit.edu	37	X	130416550	130416550	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:130416550C>T	ENST00000361420.3	-	7	1193	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	IGSF1_ENST00000370904.1_Missense_Mutation_p.D363N|IGSF1_ENST00000370910.1_Missense_Mutation_p.D363N|IGSF1_ENST00000370903.3_Missense_Mutation_p.D372N			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	372	Ig-like C2-type 4.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTGTTGTCATCGATGCTGGTG	0.468																																						uc004ewd.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(1114-1116)GAT>AAT		immunoglobulin superfamily, member 1 isoform 1							205.0	165.0	178.0					X																	130416550		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130416550C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1114G>A	X.37:g.130416550C>T	ENSP00000355010:p.Asp372Asn					IGSF1_uc004ewe.3_Missense_Mutation_p.D361N|IGSF1_uc004ewf.2_Missense_Mutation_p.D352N	p.D372N	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			7	1352	-			372			Ig-like C2-type 4.|Extracellular (Potential).		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.1114G>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	0.195	-1.049793	0.01981	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00711	5.8;5.8;5.8;5.8	4.25	-6.16	0.02098	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.775960	0.02750	N	0.117416	T	0.01092	0.0036	L	0.56769	1.78	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.0;0.002	T	0.43376	-0.9395	10	0.21540	T	0.41	.	10.0619	0.42279	0.0:0.7073:0.129:0.1636	.	363;372	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	N	363;372;363;372	ENSP00000359947:D363N;ENSP00000355010:D372N;ENSP00000359941:D363N;ENSP00000359940:D372N	ENSP00000355010:D372N	D	-	1	0	IGSF1	130244231	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.144000	0.03197	-1.504000	0.01810	-0.351000	0.07748	GAT		0.468	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			38	28	0	0	0	0	38	28				
ATP2B3	492	broad.mit.edu	37	X	152813447	152813447	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:152813447C>T	ENST00000349466.2	+	8	1439	c.1113C>T	c.(1111-1113)atC>atT	p.I371I	ATP2B3_ENST00000393842.1_Silent_p.I357I|ATP2B3_ENST00000359149.3_Silent_p.I371I|ATP2B3_ENST00000263519.4_Silent_p.I371I|ATP2B3_ENST00000370186.1_Silent_p.I357I|ATP2B3_ENST00000370181.2_Silent_p.I357I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	371					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGTGCAGATCGGGAAAGCAG	0.597																																						uc004fht.1		NA																	0				pancreas(1)	1						c.(1111-1113)ATC>ATT		plasma membrane calcium ATPase 3 isoform 3b							117.0	90.0	99.0					X																	152813447		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152813447C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1113C>T	X.37:g.152813447C>T						ATP2B3_uc004fhs.1_Silent_p.I371I	p.I371I	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			7	1239	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		371			Helical; (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.1113C>T	CCDS35440.1																																																																																				0.597	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		12	22	0	0	0	0	12	22				
ATP8B4	79895	broad.mit.edu	37	15	50190329	50190329	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:50190329delC	ENST00000284509.6	-	22	2550	c.2409delG	c.(2407-2409)aagfs	p.K804fs	ATP8B4_ENST00000559829.1_Frame_Shift_Del_p.K804fs	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	804						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.K803K(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCTGTACTTCTTCACCAGCT	0.433																																						uc001zxu.2		NA																	1	Substitution - coding silent(1)		cervix(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(2407-2409)AAGfs		ATPase class I type 8B member 4							152.0	125.0	134.0					15																	50190329		2196	4295	6491	SO:0001589	frameshift_variant	79895				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.chr15:50190329delC	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2409delG	15.37:g.50190329delC	ENSP00000284509:p.Lys804fs					ATP8B4_uc010ber.2_Frame_Shift_Del_p.K676fs|ATP8B4_uc010ufd.1_Frame_Shift_Del_p.K613fs|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxv.1_Frame_Shift_Del_p.K101fs	p.K803fs	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	22	2551	-		all_lung(180;0.00183)	803			Cytoplasmic (Potential).		Q9H727	Frame_Shift_Del	DEL	ENST00000284509.6	37	c.2409delG	CCDS32238.1																																																																																				0.433	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		31	50	NA	NA	NA	NA	31	50	---	---	---	---
C17orf104	284071	broad.mit.edu	37	17	42746783	42746783	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:42746783delA	ENST00000409122.2	+	6	2497	c.2355delA	c.(2353-2355)ggafs	p.G785fs	C17orf104_ENST00000409464.1_Frame_Shift_Del_p.G619fs|C17orf104_ENST00000359945.3_Frame_Shift_Del_p.G785fs	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	785										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						ATTATCCTGGAAAAAAAGTAT	0.353																																						uc010czv.2		NA																	0				central_nervous_system(1)	1						c.(2353-2355)GGAfs		hypothetical protein LOC284071							37.0	35.0	36.0					17																	42746783		2201	4288	6489	SO:0001589	frameshift_variant	284071							g.chr17:42746783delA		CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.2355delA	17.37:g.42746783delA	ENSP00000386452:p.Gly785fs					C17orf104_uc002igz.3_Frame_Shift_Del_p.G619fs|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Frame_Shift_Del_p.G619fs	p.G785fs	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN			6	2355	+			785					B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Frame_Shift_Del	DEL	ENST00000409122.2	37	c.2355delA	CCDS45703.2																																																																																				0.353	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		2	4	NA	NA	NA	NA	2	4	---	---	---	---
ZNF43	7594	broad.mit.edu	37	19	21992490	21992491	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:21992490_21992491insT	ENST00000354959.4	-	4	517_518	c.348_349insA	c.(346-351)aaagacfs	p.D117fs	ZNF43_ENST00000598381.1_Frame_Shift_Ins_p.D111fs|ZNF43_ENST00000594012.1_Frame_Shift_Ins_p.D111fs|ZNF43_ENST00000595461.1_Frame_Shift_Ins_p.D111fs	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	117					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTTTTATGGTCTTTTTTTAAAT	0.351																																						uc002nqj.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(346-351)AAAGACfs		zinc finger protein 43																																				SO:0001589	frameshift_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21992490_21992491insT	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.349dupA	19.37:g.21992497_21992497dupT	ENSP00000347045:p.Asp117fs					ZNF43_uc010ecv.2_Frame_Shift_Ins_p.K110fs|ZNF43_uc002nql.2_Frame_Shift_Ins_p.K110fs|ZNF43_uc002nqm.2_Frame_Shift_Ins_p.K110fs|ZNF43_uc002nqk.2_Frame_Shift_Ins_p.K46fs	p.K116fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	478_479	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	116_117					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Frame_Shift_Ins	INS	ENST00000354959.4	37	c.348_349insA	CCDS12413.2																																																																																				0.351	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		18	55	NA	NA	NA	NA	18	55	---	---	---	---
GTF2IRD2	84163	broad.mit.edu	37	7	74239555	74239556	+	In_Frame_Ins	INS	-	-	TAC			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:74239555_74239556insTAC	ENST00000405086.2	-	4	453_454	c.264_265insGTA	c.(262-267)gtgaaa>gtgGTAaaa	p.88_89insV	GTF2IRD2_ENST00000361071.5_In_Frame_Ins_p.88_89insV|GTF2IRD2_ENST00000453619.2_In_Frame_Ins_p.88_89insV	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						CAGGGAGGTTTCACCTCACACA	0.485																																					NSCLC(40;560 1096 7501 40315 49546)	uc003ubd.1		NA																	0				ovary(1)	1						c.(262-267)insGTA		GTF2I repeat domain containing 2																																				SO:0001652	inframe_insertion	84163				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:74239555_74239556insTAC	BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"""transcription factor GTF2IRD2"""	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.264_265insGTA	7.37:g.74239555_74239556insTAC	ENSP00000385491:p.Val88_Val88dup					GTF2IRD2_uc011kfi.1_In_Frame_Ins_p.88_89insV|GTF2IRD2_uc003ubf.1_In_Frame_Ins_p.88_89insV|GTF2IRD2_uc003ubg.1_In_Frame_Ins_p.88_89insV	p.88_89insV	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN			4	448_449	-			88_89					A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	In_Frame_Ins	INS	ENST00000405086.2	37	c.264_265insGTA	CCDS5576.1																																																																																				0.485	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537		7	33	NA	NA	NA	NA	7	33	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92350418	92350418	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:92350418delA	ENST00000276609.3	+	7	1075	c.836delA	c.(835-837)gaafs	p.E279fs	SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.E279fs|SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.E279fs	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACCAATATGGAAAACACATAT	0.303																																						uc003yex.2		NA																	0				ovary(2)	2						c.(835-837)GAAfs		solute carrier family 26, member 7 isoform a							114.0	109.0	111.0					8																	92350418		2203	4296	6499	SO:0001589	frameshift_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92350418delA	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.836delA	8.37:g.92350418delA	ENSP00000276609:p.Glu279fs					SLC26A7_uc003yey.2_Intron|SLC26A7_uc003yez.2_Frame_Shift_Del_p.E279fs|SLC26A7_uc003yfa.2_Frame_Shift_Del_p.E279fs	p.E279fs	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		8	1114	+			279			Cytoplasmic (Potential).			Frame_Shift_Del	DEL	ENST00000276609.3	37	c.836delA	CCDS6254.1																																																																																				0.303	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			17	56	NA	NA	NA	NA	17	56	---	---	---	---
ZXDA	7789	broad.mit.edu	37	X	57935195	57935196	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:57935195_57935196delAG	ENST00000358697.4	-	1	1871_1872	c.1659_1660delCT	c.(1657-1662)ctcttcfs	p.F554fs		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	554	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TTGGATGTGAAGAGTTTATTAC	0.485																																						uc004dve.2		NA																	0				ovary(1)	1						c.(1657-1662)CTCTTCfs		zinc finger, X-linked, duplicated A																																				SO:0001589	frameshift_variant	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935195_57935196delAG	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1659_1660delCT	X.37:g.57935197_57935198delAG	ENSP00000351530:p.Phe554fs						p.L553fs	NM_007156	NP_009087	P98168	ZXDA_HUMAN			1	1872_1873	-			553_554			C2H2-type 10.|Required for interaction with ZXDC.		Q9UJP7	Frame_Shift_Del	DEL	ENST00000358697.4	37	c.1659_1660delCT	CCDS14376.1																																																																																				0.485	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		10	24	NA	NA	NA	NA	10	24	---	---	---	---
