#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
UBIAD1	29914	broad.mit.edu	37	1	11345795	11345795	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:11345795G>T	ENST00000376810.5	+	2	950	c.624G>T	c.(622-624)ggG>ggT	p.G208G	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	208					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)	p.G208G(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TCCAGGTGGGGTCCCTGGCCA	0.597																																							uc001asg.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(622-624)GGG>GGT		UbiA prenyltransferase domain containing 1							153.0	126.0	135.0					1																	11345795		2203	4300	6503	SO:0001819	synonymous_variant	29914				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	g.chr1:11345795G>T		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"""transitional epithelia response protein"""	611632	"""Schnyder crystalline corneal dystrophy"""	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.624G>T	1.37:g.11345795G>T							p.G208G	NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)	2	958	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	208			Helical; (Potential).		B3KQG3|Q53GX3|Q5THD4	Silent	SNP	ENST00000376810.5	37	c.624G>T	CCDS129.1																																																																																				0.597	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		15	72	1	0	7.05477e-17	0.00499	1.19137e-16	15	72				
FBXO2	26232	broad.mit.edu	37	1	11709842	11709842	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:11709842T>A	ENST00000354287.4	-	4	952	c.611A>T	c.(610-612)aAg>aTg	p.K204M	FBXO2_ENST00000475961.1_5'Flank	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	204	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				cellular protein modification process (GO:0006464)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of protein ubiquitination (GO:0031396)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|SCF ubiquitin ligase complex (GO:0019005)	beta-amyloid binding (GO:0001540)|carbohydrate binding (GO:0030246)|ubiquitin-protein transferase activity (GO:0004842)	p.K204M(1)		kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCAGTCCTTCACCACGAT	0.662																																							uc001asj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(610-612)AAG>ATG		F-box only protein 2							80.0	74.0	76.0					1																	11709842		2203	4300	6503	SO:0001583	missense	26232				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity	g.chr1:11709842T>A	AF174594	CCDS130.1	1p36.21	2010-04-21	2004-06-15		ENSG00000116661	ENSG00000116661		"""F-boxes /  ""other"""""	13581	protein-coding gene	gene with protein product		607112	"""F-box only protein 2"", ""organ of Corti protein 1"""	OCP1		10531035, 10531037	Standard	NM_012168		Approved	FBX2, Nfb42, Fbs1, Fbg1	uc001asj.3	Q9UK22	OTTHUMG00000002072	ENST00000354287.4:c.611A>T	1.37:g.11709842T>A	ENSP00000346240:p.Lys204Met					FBXO2_uc009vna.2_Missense_Mutation_p.K207M|FBXO2_uc009vnb.1_RNA	p.K204M	NM_012168	NP_036300	Q9UK22	FBX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)	4	953	-	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	204			FBA.		B2R7K7|Q5TGY0|Q6FGJ7|Q8TB29|Q9UKC6	Missense_Mutation	SNP	ENST00000354287.4	37	c.611A>T	CCDS130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.206628|4.206628	0.79127|0.79127	.|.	.|.	ENSG00000116661|ENSG00000116661	ENST00000452872|ENST00000354287	.|T	.|0.34859	.|1.34	4.87|4.87	4.87|4.87	0.63330|0.63330	.|Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	.|0.181799	.|0.53938	.|D	.|0.000056	T|T	0.46014|0.46014	0.1371|0.1371	L|L	0.53617|0.53617	1.68|1.68	0.39596|0.39596	D|D	0.969656|0.969656	.|D	.|0.55605	.|0.972	.|P	.|0.57324	.|0.818	T|T	0.46233|0.46233	-0.9206|-0.9206	6|10	0.52906|0.46703	T|T	0.07|0.11	.|.	8.793|8.793	0.34863|0.34863	0.0:0.0901:0.0:0.9099|0.0:0.0901:0.0:0.9099	.|.	.|204	.|Q9UK22	.|FBX2_HUMAN	D|M	193|204	.|ENSP00000346240:K204M	ENSP00000414826:E193D|ENSP00000346240:K204M	E|K	-|-	3|2	2|0	FBXO2|FBXO2	11632429|11632429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.817000|2.817000	0.48034|0.48034	1.932000|1.932000	0.55993|0.55993	0.459000|0.459000	0.35465|0.35465	GAA|AAG		0.662	FBXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005764.1	NM_012168		7	50	0	0	0	0.00308	0	7	50				
FBLIM1	54751	broad.mit.edu	37	1	16101240	16101240	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:16101240G>T	ENST00000375766.3	+	7	1479	c.839G>T	c.(838-840)aGc>aTc	p.S280I	FBLIM1_ENST00000332305.5_Missense_Mutation_p.S183I|FBLIM1_ENST00000441801.2_Missense_Mutation_p.S280I|FBLIM1_ENST00000400773.1_Missense_Mutation_p.S183I|FBLIM1_ENST00000375771.1_Missense_Mutation_p.S280I	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	280	FERMT2-binding.|LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.S280I(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GGGGATGAGAGCTTTGCCCTG	0.642																																							uc001axd.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(838-840)AGC>ATC		filamin-binding LIM protein-1 isoform a							131.0	121.0	124.0					1																	16101240		2203	4300	6503	SO:0001583	missense	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16101240G>T		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.839G>T	1.37:g.16101240G>T	ENSP00000364921:p.Ser280Ile					FBLIM1_uc001axe.1_Missense_Mutation_p.S280I|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.S280I|FBLIM1_uc001axh.1_Missense_Mutation_p.S183I|FBLIM1_uc001axi.1_Missense_Mutation_p.S183I	p.S280I	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	8	1282	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	280			PLEKHC1-binding.|LIM zinc-binding 2.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Missense_Mutation	SNP	ENST00000375766.3	37	c.839G>T	CCDS163.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802911	0.70682	.	.	ENSG00000162458	ENST00000375771;ENST00000375766;ENST00000400773;ENST00000441801;ENST00000332305	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	5.16	2.29	0.28610	Zinc finger, LIM-type (4);	0.407810	0.29286	N	0.012589	D	0.90287	0.6962	M	0.64630	1.985	0.40180	D	0.977286	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.75020	0.951;0.977;0.985	D	0.88492	0.3076	10	0.66056	D	0.02	.	8.0263	0.30438	0.2501:0.0:0.7499:0.0	.	183;280;280	Q8WUP2-3;Q8WUP2-2;Q8WUP2	.;.;FBLI1_HUMAN	I	280;280;183;280;183	ENSP00000364926:S280I;ENSP00000364921:S280I;ENSP00000383584:S183I;ENSP00000416387:S280I;ENSP00000364920:S183I	ENSP00000364920:S183I	S	+	2	0	FBLIM1	15973827	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.890000	0.39728	0.342000	0.23796	0.655000	0.94253	AGC		0.642	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215		21	109	1	0	2.89027e-11	0.002299	4.16395e-11	21	109				
DEPDC1	55635	broad.mit.edu	37	1	68954074	68954074	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:68954074A>G	ENST00000456315.2	-	5	818	c.704T>C	c.(703-705)aTa>aCa	p.I235T	DEPDC1_ENST00000370966.5_Missense_Mutation_p.I235T	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	235					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)	p.I235T(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		GTTTTGTAGTATAACTACTCC	0.333																																							uc001dem.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(703-705)ATA>ACA		DEP domain containing 1 isoform a							139.0	131.0	134.0					1																	68954074		2202	4299	6501	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68954074A>G	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.704T>C	1.37:g.68954074A>G	ENSP00000412292:p.Ile235Thr					DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Missense_Mutation_p.I235T	p.I235T	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	5	821	-			235					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.704T>C	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	A	5.876	0.345832	0.11126	.	.	ENSG00000024526	ENST00000456315;ENST00000370966;ENST00000370964;ENST00000525124	T;T;T	0.18016	2.24;2.24;2.24	5.34	3.04	0.35103	Rho GTPase activation protein (1);	0.724770	0.14820	N	0.296496	T	0.04272	0.0118	L	0.38175	1.15	0.09310	N	0.999999	B;B	0.30361	0.033;0.277	B;B	0.27380	0.008;0.079	T	0.39333	-0.9619	10	0.26408	T	0.33	-0.5544	9.1986	0.37244	0.8526:0.0:0.1474:0.0	.	235;235	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	T	235;235;180;14	ENSP00000412292:I235T;ENSP00000360005:I235T;ENSP00000431477:I14T	ENSP00000360003:I180T	I	-	2	0	DEPDC1	68726662	0.696000	0.27757	0.836000	0.33094	0.387000	0.30353	4.877000	0.63086	0.356000	0.24157	0.477000	0.44152	ATA		0.333	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		15	70	0	0	0	0.004007	0	15	70				
ERICH3	127254	broad.mit.edu	37	1	75037052	75037052	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:75037052G>T	ENST00000326665.5	-	14	4560	c.4342C>A	c.(4342-4344)Caa>Aaa	p.Q1448K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1448	Glu-rich.							p.Q1448K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCCTCTTGCTCCTGTCCT	0.587																																							uc001dgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4342-4344)CAA>AAA		hypothetical protein LOC127254							96.0	94.0	95.0					1																	75037052		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037052G>T																												ENST00000326665.5:c.4342C>A	1.37:g.75037052G>T	ENSP00000322609:p.Gln1448Lys						p.Q1448K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4561	-			1448			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4342C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	0.344	-0.948812	0.02304	.	.	ENSG00000178965	ENST00000326665	T	0.12039	2.72	4.73	-1.66	0.08265	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.13407	0.009	T	0.47971	-0.9075	9	0.02654	T	1	-0.2069	8.3269	0.32162	0.0:0.24:0.2543:0.5057	.	1448	Q5RHP9	CA173_HUMAN	K	1448	ENSP00000322609:Q1448K	ENSP00000322609:Q1448K	Q	-	1	0	C1orf173	74809640	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.325000	0.02687	-0.253000	0.09514	0.561000	0.74099	CAA		0.587	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			36	116	1	0	4.62619e-21	0.004289	8.73836e-21	36	116				
ERICH3	127254	broad.mit.edu	37	1	75078489	75078489	+	Silent	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:75078489G>C	ENST00000326665.5	-	9	1223	c.1005C>G	c.(1003-1005)acC>acG	p.T335T	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.T138T	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		335								p.T335T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TAAACTGAAAGGTCTCTGGAA	0.353																																							uc001dgg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1003-1005)ACC>ACG		hypothetical protein LOC127254							47.0	49.0	49.0					1																	75078489		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75078489G>C																												ENST00000326665.5:c.1005C>G	1.37:g.75078489G>C						uc001dgh.2_Intron|C1orf173_uc001dgi.3_Silent_p.T129T	p.T335T	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			9	1224	-			335					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.1005C>G	CCDS30755.1																																																																																				0.353	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			9	29	0	0	0	0.006214	0	9	29				
TTLL7	79739	broad.mit.edu	37	1	84403666	84403666	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:84403666C>A	ENST00000260505.8	-	8	1134	c.757G>T	c.(757-759)Gtg>Ttg	p.V253L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	253	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.V253L(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TGCTTGTTCACGGAGTAGTTT	0.398																																							uc001djc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(757-759)GTG>TTG		tubulin tyrosine ligase-like family, member 7							208.0	180.0	190.0					1																	84403666		2203	4300	6503	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84403666C>A	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.757G>T	1.37:g.84403666C>A	ENSP00000260505:p.Val253Leu					TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	p.V253L	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	8	1153	-			253			TTL.		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.757G>T	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933585	0.92458	.	.	ENSG00000137941	ENST00000260505;ENST00000370703	T	0.05786	3.39	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.06462	0.0166	N	0.25286	0.73	0.80722	D	1	P	0.50156	0.932	P	0.54346	0.749	T	0.52290	-0.8595	10	0.27082	T	0.32	.	20.1708	0.98159	0.0:1.0:0.0:0.0	.	253	Q6ZT98	TTLL7_HUMAN	L	253	ENSP00000260505:V253L	ENSP00000260505:V253L	V	-	1	0	TTLL7	84176254	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	7.447000	0.80620	2.761000	0.94854	0.655000	0.94253	GTG		0.398	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		24	78	1	0	9.95505e-16	0.002299	1.59656e-15	24	78				
FRRS1	391059	broad.mit.edu	37	1	100185118	100185118	+	Silent	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:100185118G>A	ENST00000414213.1	-	10	1693	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S	FRRS1_ENST00000287474.5_Silent_p.S364S			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	364	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)	p.S364S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		GTACAGAATGGGATCCTCCTA	0.408																																							uc001dsh.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1090-1092)TCC>TCT		stromal cell derived factor receptor 2 homolog							129.0	114.0	119.0					1																	100185118		2203	4300	6503	SO:0001819	synonymous_variant	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100185118G>A	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1092C>T	1.37:g.100185118G>A							p.S364S	NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	10	1694	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)	364			Cytochrome b561.		A6NLN7	Silent	SNP	ENST00000414213.1	37	c.1092C>T																																																																																					0.408	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		24	44	0	0	0	0.00278	0	24	44				
DBT	1629	broad.mit.edu	37	1	100672123	100672123	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:100672123G>A	ENST00000370132.4	-	9	1100	c.1087C>T	c.(1087-1089)Cag>Tag	p.Q363*		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	363					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)	p.Q363*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GAGCAGATCTGAACATTTTTC	0.418																																							uc001dta.2		NA																	1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(1087-1089)CAG>TAG		dihydrolipoamide branched chain transacylase							212.0	219.0	216.0					1																	100672123		2203	4300	6503	SO:0001587	stop_gained	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100672123G>A	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.1087C>T	1.37:g.100672123G>A	ENSP00000359151:p.Gln363*					DBT_uc010oug.1_Nonsense_Mutation_p.Q182*	p.Q363*	NM_001918	NP_001909	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	9	1120	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	363					B2R811|Q5VVL8	Nonsense_Mutation	SNP	ENST00000370132.4	37	c.1087C>T	CCDS767.1	.	.	.	.	.	.	.	.	.	.	G	34	5.357596	0.95854	.	.	ENSG00000137992	ENST00000543138;ENST00000370132	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.5991	16.1944	0.82018	0.0:0.133:0.867:0.0	.	.	.	.	X	182;363	.	ENSP00000359151:Q363X	Q	-	1	0	DBT	100444711	1.000000	0.71417	0.993000	0.49108	0.893000	0.52053	7.447000	0.80620	2.711000	0.92665	0.561000	0.74099	CAG		0.418	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		77	192	0	0	0	0.00361	0	77	192				
SYCP1	6847	broad.mit.edu	37	1	115418714	115418714	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:115418714C>G	ENST00000369522.3	+	10	922	c.682C>G	c.(682-684)Ctt>Gtt	p.L228V	SYCP1_ENST00000369518.1_Missense_Mutation_p.L228V	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	228					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.L228V(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTGAGGAACTTCGTGTGCA	0.259																																							uc001efr.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(682-684)CTT>GTT		synaptonemal complex protein 1							54.0	57.0	56.0					1																	115418714		2203	4293	6496	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115418714C>G	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.682C>G	1.37:g.115418714C>G	ENSP00000358535:p.Leu228Val					SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.L228V|SYCP1_uc009wgw.2_Missense_Mutation_p.L228V	p.L228V	NM_003176	NP_003167	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	891	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	228			Potential.		O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.682C>G	CCDS879.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160407	0.78226	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.57595	0.39;0.39;0.39	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	M	0.72894	2.215	0.48236	D	0.999613	D;D	0.69078	0.997;0.997	D;D	0.85130	0.997;0.997	T	0.60265	-0.7297	10	0.31617	T	0.26	-6.3375	17.2891	0.87150	0.0:1.0:0.0:0.0	.	228;228	B7ZLS9;Q15431	.;SYCP1_HUMAN	V	228	ENSP00000358535:L228V;ENSP00000410011:L228V;ENSP00000358531:L228V	ENSP00000358531:L228V	L	+	1	0	SYCP1	115220237	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.769000	0.62300	2.751000	0.94390	0.650000	0.86243	CTT		0.259	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		17	47	0	0	0	0.004007	0	17	47				
PDE4DIP	9659	broad.mit.edu	37	1	144877096	144877096	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:144877096G>T	ENST00000369354.3	-	28	4780	c.4591C>A	c.(4591-4593)Cgg>Agg	p.R1531R	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.R1667R|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.R1531R|PDE4DIP_ENST00000313382.9_Silent_p.R1487R|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369359.4_Silent_p.R1667R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1531					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.R1531R(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGTTGCTCCCGGAAGCTCTGT	0.493			T	PDGFRB	MPD																																		uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - coding silent(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(4591-4593)CGG>AGG		phosphodiesterase 4D interacting protein isoform							40.0	40.0	40.0					1																	144877096		2203	4300	6503	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144877096G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4591C>A	1.37:g.144877096G>T						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.R1487R|PDE4DIP_uc001elv.3_Silent_p.R538R	p.R1531R	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	28	4882	-			1531					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.4591C>A	CCDS30824.1																																																																																				0.493	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		11	44	1	0	5.50884e-06	0.001368	6.35635e-06	11	44				
NUDT17	200035	broad.mit.edu	37	1	145586946	145586946	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:145586946G>T	ENST00000334513.5	-	7	753	c.742C>A	c.(742-744)Cta>Ata	p.L248I	NUDT17_ENST00000444015.2_5'Flank	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	248							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.L248I(1)		endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCTCCTCTAGTTCCACTGCA	0.532																																							uc001eoe.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(742-744)CTA>ATA		nudix (nucleoside diphosphate linked moiety							113.0	96.0	102.0					1																	145586946		2203	4300	6503	SO:0001583	missense	200035						hydrolase activity|metal ion binding	g.chr1:145586946G>T	BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"""Nudix motif containing"""	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.742C>A	1.37:g.145586946G>T	ENSP00000334437:p.Leu248Ile					NBPF10_uc001emp.3_Intron	p.L248I	NM_001012758	NP_001012776	P0C025	NUD17_HUMAN			7	750	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		248						Missense_Mutation	SNP	ENST00000334513.5	37	c.742C>A	CCDS30830.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.692|7.692	0.691286|0.691286	0.15039|0.15039	.|.	.|.	ENSG00000186364|ENSG00000186364	ENST00000334513|ENST00000444015	.|.	.|.	.|.	5.01|5.01	3.14|3.14	0.36123|0.36123	.|.	0.083720|.	0.48286|.	D|.	0.000198|.	T|T	0.22205|0.22205	0.0535|0.0535	L|L	0.52573|0.52573	1.65|1.65	0.09310|0.09310	N|N	1|1	B|.	0.25809|.	0.135|.	B|.	0.30495|.	0.116|.	T|T	0.16988|0.16988	-1.0384|-1.0384	9|5	0.44086|.	T|.	0.13|.	-11.278|-11.278	6.7849|6.7849	0.23668|0.23668	0.0945:0.1781:0.7274:0.0|0.0945:0.1781:0.7274:0.0	.|.	248|.	P0C025|.	NUD17_HUMAN|.	I|K	248|131	.|.	ENSP00000334437:L248I|.	L|N	-|-	1|3	2|2	NUDT17|NUDT17	144298303|144298303	0.620000|0.620000	0.27068|0.27068	0.046000|0.046000	0.18839|0.18839	0.230000|0.230000	0.25150|0.25150	0.947000|0.947000	0.29082|0.29082	0.687000|0.687000	0.31509|0.31509	-0.156000|-0.156000	0.13503|0.13503	CTA|AAC		0.532	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038541.3	XM_496395		30	89	1	0	3.99451e-17	0.009535	6.79066e-17	30	89				
FLG2	388698	broad.mit.edu	37	1	152328737	152328737	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:152328737C>T	ENST00000388718.5	-	3	1597	c.1525G>A	c.(1525-1527)Ggg>Agg	p.G509R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	509	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G509R(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGACAGACCCATGCTGTCCA	0.522																																							uc001ezw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(1525-1527)GGG>AGG		filaggrin family member 2							234.0	232.0	233.0					1																	152328737		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328737C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1525G>A	1.37:g.152328737C>T	ENSP00000373370:p.Gly509Arg					uc001ezv.2_Intron	p.G509R	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1598	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		509			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.1525G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431670	0.25813	.	.	ENSG00000143520	ENST00000388718	T	0.21191	2.02	4.41	-0.952	0.10366	.	.	.	.	.	T	0.06142	0.0159	L	0.45581	1.43	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.40459	-0.9562	9	0.32370	T	0.25	-4.4533	8.7091	0.34374	0.0:0.4548:0.0:0.5452	.	509	Q5D862	FILA2_HUMAN	R	509	ENSP00000373370:G509R	ENSP00000373370:G509R	G	-	1	0	FLG2	150595361	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.752000	0.04797	-0.085000	0.12573	0.655000	0.94253	GGG		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		66	199	0	0	0	0.00361	0	66	199				
PFDN2	5202	broad.mit.edu	37	1	161087769	161087769	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:161087769C>A	ENST00000368010.3	-	1	132	c.48G>T	c.(46-48)gcG>gcT	p.A16A	NIT1_ENST00000392190.5_5'Flank|NIT1_ENST00000368009.2_5'Flank|NIT1_ENST00000368007.4_5'Flank|PFDN2_ENST00000468311.1_5'UTR|NIT1_ENST00000368008.1_5'Flank	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	16				SGAGKGAVS -> TPRRGRGRCP (in Ref. 2; AAD47084). {ECO:0000305}.	'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	unfolded protein binding (GO:0051082)	p.A16A(1)		lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCCCCTTCCCCGCGCCGCTCC	0.701																																							uc001fxu.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(46-48)GCG>GCT		prefoldin subunit 2							28.0	29.0	29.0					1																	161087769		2202	4300	6502	SO:0001819	synonymous_variant	5202				'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding	g.chr1:161087769C>A	AF165883	CCDS1217.1	1q23.3	2008-02-05	2006-02-24		ENSG00000143256	ENSG00000143256			8867	protein-coding gene	gene with protein product		613466	"""prefoldin 2"""			10051400	Standard	NM_012394		Approved		uc001fxu.3	Q9UHV9	OTTHUMG00000031481	ENST00000368010.3:c.48G>T	1.37:g.161087769C>A						NIT1_uc001fxv.1_5'Flank|NIT1_uc001fxw.2_5'Flank|NIT1_uc001fxx.1_5'Flank|NIT1_uc001fxy.1_5'Flank|NIT1_uc010pka.1_5'Flank	p.A16A	NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		1	98	-	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		16	SGAGKGAVS -> TPRRGRGRCP (in Ref. 2; AAD47084).				Q9P0P7|Q9UN05	Silent	SNP	ENST00000368010.3	37	c.48G>T	CCDS1217.1																																																																																				0.701	PFDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077100.1	NM_012394		10	42	1	0	4.68919e-08	0.008291	6.13202e-08	10	42				
PAPPA2	60676	broad.mit.edu	37	1	176668286	176668286	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:176668286C>A	ENST00000367662.3	+	8	3961	c.2797C>A	c.(2797-2799)Cct>Act	p.P933T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	933					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P933T(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCCTGGAGCCCTGAGGTCCA	0.572																																							uc001gkz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2797-2799)CCT>ACT		pappalysin 2 isoform 1							85.0	84.0	85.0					1																	176668286		1940	4128	6068	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176668286C>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2797C>A	1.37:g.176668286C>A	ENSP00000356634:p.Pro933Thr					PAPPA2_uc009www.2_RNA	p.P933T	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			8	3961	+			933					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2797C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755814	0.89843	.	.	ENSG00000116183	ENST00000367662	T	0.03035	4.07	5.14	5.14	0.70334	Fibronectin, type III (2);	0.051187	0.85682	D	0.000000	T	0.20740	0.0499	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.00258	-1.1871	10	0.87932	D	0	-14.0484	18.3931	0.90490	0.0:1.0:0.0:0.0	.	933	Q9BXP8	PAPP2_HUMAN	T	933	ENSP00000356634:P933T	ENSP00000356634:P933T	P	+	1	0	PAPPA2	174934909	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.179000	0.77665	2.649000	0.89929	0.655000	0.94253	CCT		0.572	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			38	62	1	0	1.32136e-16	0.00874	2.20226e-16	38	62				
CACNA1E	777	broad.mit.edu	37	1	181702858	181702858	+	Silent	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:181702858C>T	ENST00000367573.2	+	21	3234	c.3234C>T	c.(3232-3234)gaC>gaT	p.D1078D	CACNA1E_ENST00000367570.1_Silent_p.D1078D|CACNA1E_ENST00000357570.5_Silent_p.D1029D|CACNA1E_ENST00000526775.1_Silent_p.D1059D|CACNA1E_ENST00000358338.5_Silent_p.D1010D|CACNA1E_ENST00000360108.3_Silent_p.D1059D|CACNA1E_ENST00000367567.4_Silent_p.D685D	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1078					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.D1078D(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGACGTGGACCCCTTGGTGG	0.622																																							uc001gow.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3232-3234)GAC>GAT		calcium channel, voltage-dependent, R type,							36.0	42.0	40.0					1																	181702858		2163	4239	6402	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702858C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3234C>T	1.37:g.181702858C>T						CACNA1E_uc009wxs.2_Silent_p.D966D|CACNA1E_uc001gox.1_Silent_p.D304D|CACNA1E_uc009wxt.2_Silent_p.D304D	p.D1078D	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			21	3399	+			1078			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.3234C>T	CCDS55664.1																																																																																				0.622	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		6	12	0	0	0	0.001168	0	6	12				
ASPM	259266	broad.mit.edu	37	1	197070841	197070841	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:197070841A>T	ENST00000367409.4	-	18	7796	c.7540T>A	c.(7540-7542)Tat>Aat	p.Y2514N	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2514					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.Y2514N(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TATGTTCGATAATGTTGCTGA	0.363																																							uc001gtu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(7540-7542)TAT>AAT		asp (abnormal spindle)-like, microcephaly							85.0	86.0	86.0					1																	197070841		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197070841A>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7540T>A	1.37:g.197070841A>T	ENSP00000356379:p.Tyr2514Asn					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.Y362N	p.Y2514N	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	7797	-			2514					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.7540T>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	a	15.13	2.740725	0.49045	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.73047	-0.71	4.83	3.7	0.42460	.	0.145045	0.48286	D	0.000200	D	0.84547	0.5496	M	0.91510	3.215	0.80722	D	1	D;D	0.76494	0.968;0.999	D;D	0.75020	0.968;0.985	D	0.84524	0.0629	10	0.72032	D	0.01	.	7.9309	0.29901	0.838:0.0:0.162:0.0	.	500;2514	E7EQ84;Q8IZT6	.;ASPM_HUMAN	N	2514;500	ENSP00000356379:Y2514N	ENSP00000356376:Y500N	Y	-	1	0	ASPM	195337464	1.000000	0.71417	0.386000	0.26170	0.556000	0.35491	6.672000	0.74477	0.778000	0.33520	0.456000	0.33151	TAT		0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		30	81	0	0	0	0.008361	0	30	81				
PIGR	5284	broad.mit.edu	37	1	207105801	207105801	+	Splice_Site	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:207105801C>T	ENST00000356495.4	-	8	2191	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	670					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.D670N(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGGGACTCACCGACGTTCTTC	0.632																																							uc001hez.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2008-2010)GAC>AAC		polymeric immunoglobulin receptor precursor							90.0	94.0	93.0					1																	207105801		2203	4300	6503	SO:0001630	splice_region_variant	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207105801C>T		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.2008+1G>A	1.37:g.207105801C>T						PIGR_uc009xbz.2_Missense_Mutation_p.D670N	p.D670N	NM_002644	NP_002635	P01833	PIGR_HUMAN			8	2192	-			670			Cytoplasmic (Potential).		Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.2008G>A	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988022	0.93106	.	.	ENSG00000162896	ENST00000356495	T	0.29142	1.58	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	T	0.55561	0.1928	M	0.71036	2.16	0.45307	D	0.9983	D	0.89917	1.0	D	0.91635	0.999	T	0.53464	-0.8435	9	.	.	.	-23.2763	16.5595	0.84535	0.0:1.0:0.0:0.0	.	670	P01833	PIGR_HUMAN	N	670	ENSP00000348888:D670N	.	D	-	1	0	PIGR	205172424	0.992000	0.36948	0.963000	0.40424	0.874000	0.50279	3.894000	0.56250	2.586000	0.87340	0.561000	0.74099	GAC		0.632	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644	Missense_Mutation	26	101	0	0	0	0.00333	0	26	101				
USH2A	7399	broad.mit.edu	37	1	216462704	216462704	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:216462704G>T	ENST00000307340.3	-	11	2275	c.1889C>A	c.(1888-1890)gCa>gAa	p.A630E	USH2A_ENST00000366942.3_Missense_Mutation_p.A630E|USH2A_ENST00000366943.2_Missense_Mutation_p.A630E	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	630	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.A630E(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGAAGGATCTGCACCAACTTG	0.413										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(1888-1890)GCA>GAA		usherin isoform B							178.0	157.0	164.0					1																	216462704		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216462704G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1889C>A	1.37:g.216462704G>T	ENSP00000305941:p.Ala630Glu	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.A630E	p.A630E	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	11	2276	-			630			Laminin EGF-like 2.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1889C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808597	0.70797	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.19105	2.62;2.61;2.17	5.43	4.52	0.55395	EGF-like, laminin (3);	0.000000	0.43260	D	0.000600	T	0.24005	0.0581	L	0.45581	1.43	0.46028	D	0.998826	P;D	0.57571	0.589;0.98	B;P	0.52957	0.439;0.714	T	0.07290	-1.0780	10	0.08381	T	0.77	.	9.5053	0.39042	0.072:0.0:0.7865:0.1415	.	630;630	O75445-2;O75445	.;USH2A_HUMAN	E	630	ENSP00000305941:A630E;ENSP00000355910:A630E;ENSP00000355909:A630E	ENSP00000305941:A630E	A	-	2	0	USH2A	214529327	0.028000	0.19301	0.992000	0.48379	0.986000	0.74619	1.287000	0.33284	1.429000	0.47314	0.557000	0.71058	GCA		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		26	66	1	0	1.04121e-07	0.005443	1.34776e-07	26	66				
PLD5	200150	broad.mit.edu	37	1	242253245	242253245	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:242253245G>T	ENST00000536534.2	-	10	1763	c.1522C>A	c.(1522-1524)Ccg>Acg	p.P508T	PLD5_ENST00000427495.1_Missense_Mutation_p.P446T|PLD5_ENST00000442594.2_Missense_Mutation_p.P416T			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	508						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.P416T(1)|p.P508T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GAGCAGTTCGGCTGTTTGGTT	0.458																																							uc001hzn.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)	6						c.(1522-1524)CCG>ACG		RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;							258.0	240.0	246.0					1																	242253245		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242253245G>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1522C>A	1.37:g.242253245G>T	ENSP00000440896:p.Pro508Thr					PLD5_uc001hzl.3_Missense_Mutation_p.P446T|PLD5_uc001hzm.3_Missense_Mutation_p.P298T|PLD5_uc001hzo.1_Missense_Mutation_p.P416T	p.P508T			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		10	1649	-	Melanoma(84;0.242)		508					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.1522C>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045593	0.36085	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.25414	1.8;1.8;1.8	5.77	3.81	0.43845	.	0.060782	0.64402	D	0.000003	T	0.25494	0.0620	M	0.61703	1.905	0.33649	D	0.608189	P;B;P	0.42620	0.785;0.003;0.785	B;B;B	0.39258	0.295;0.005;0.202	T	0.46105	-0.9215	10	0.72032	D	0.01	-10.6538	9.8797	0.41225	0.0747:0.0:0.7855:0.1398	.	416;508;446	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	T	446;416;508	ENSP00000401285:P446T;ENSP00000414188:P416T;ENSP00000440896:P508T	ENSP00000401285:P446T	P	-	1	0	PLD5	240319868	1.000000	0.71417	0.987000	0.45799	0.932000	0.56968	4.219000	0.58561	2.723000	0.93209	0.655000	0.94253	CCG		0.458	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		64	149	1	0	9.39563e-20	0.00361	1.73615e-19	64	149				
ZNF670	93474	broad.mit.edu	37	1	247201596	247201596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:247201596C>A	ENST00000366503.2	-	4	483	c.325G>T	c.(325-327)Gga>Tga	p.G109*		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G109*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			AAGACTTTTCCACACACACTG	0.393																																							uc001icd.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(325-327)GGA>TGA		zinc finger protein 670							156.0	147.0	150.0					1																	247201596		2203	4300	6503	SO:0001587	stop_gained	93474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247201596C>A		CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.325G>T	1.37:g.247201596C>A	ENSP00000355459:p.Gly109*					ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	p.G109*	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		4	496	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	109			C2H2-type 1.			Nonsense_Mutation	SNP	ENST00000366503.2	37	c.325G>T	CCDS31087.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150613	0.94645	.	.	ENSG00000135747	ENST00000366503	.	.	.	0.427	0.427	0.16489	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.6408	0.22909	0.0:0.9999:0.0:1.0E-4	.	.	.	.	X	109	.	ENSP00000355459:G109X	G	-	1	0	ZNF670	245268219	1.000000	0.71417	0.938000	0.37757	0.939000	0.58152	2.178000	0.42519	0.458000	0.26988	0.467000	0.42956	GGA		0.393	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213		34	130	1	0	3.11337e-16	0.002836	5.122e-16	34	130				
OR2T1	26696	broad.mit.edu	37	1	248569559	248569559	+	Silent	SNP	A	A	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:248569559A>G	ENST00000366474.1	+	1	264	c.264A>G	c.(262-264)gcA>gcG	p.A88A		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A88A(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTCACCGCACTGATGGCCA	0.443																																							uc010pzm.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(262-264)GCA>GCG		olfactory receptor, family 2, subfamily T,							161.0	146.0	151.0					1																	248569559		2203	4300	6503	SO:0001819	synonymous_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569559A>G	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.264A>G	1.37:g.248569559A>G							p.A88A	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	264	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		88			Helical; Name=1; (Potential).		Q6IEZ9	Silent	SNP	ENST00000366474.1	37	c.264A>G	CCDS31115.1																																																																																				0.443	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			25	110	0	0	0	0.005443	0	25	110				
OR2T27	403239	broad.mit.edu	37	1	248813976	248813976	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:248813976G>T	ENST00000344889.3	-	1	209	c.210C>A	c.(208-210)gaC>gaA	p.D70E		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D70E(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TATACAGGATGTCCCTGAGGG	0.537																																							uc010pzo.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(208-210)GAC>GAA		olfactory receptor, family 2, subfamily T,							38.0	31.0	33.0					1																	248813976		2201	4278	6479	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813976G>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.210C>A	1.37:g.248813976G>T	ENSP00000342008:p.Asp70Glu						p.D70E	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	210	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	70			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000344889.3	37	c.210C>A	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.632438	0.29068	.	.	ENSG00000187701	ENST00000344889	T	0.66460	-0.21	3.3	-0.866	0.10659	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41294	D	0.000914	T	0.73140	0.3549	M	0.62016	1.91	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.63247	-0.6680	10	0.66056	D	0.02	.	7.3404	0.26633	0.6783:0.0:0.3217:0.0	.	70	Q8NH04	O2T27_HUMAN	E	70	ENSP00000342008:D70E	ENSP00000342008:D70E	D	-	3	2	OR2T27	246880599	0.000000	0.05858	0.943000	0.38184	0.268000	0.26511	-0.669000	0.05262	-0.044000	0.13491	0.194000	0.17425	GAC		0.537	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		4	36	1	0	4.3838e-07	0.001855	5.40033e-07	4	36				
SEC61A2	55176	broad.mit.edu	37	10	12191875	12191875	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:12191875G>T	ENST00000298428.9	+	6	466	c.377G>T	c.(376-378)gGg>gTg	p.G126V	SEC61A2_ENST00000379020.4_Missense_Mutation_p.G126V|SEC61A2_ENST00000379051.1_Missense_Mutation_p.G126V|SEC61A2_ENST00000379017.3_Missense_Mutation_p.G126V|SEC61A2_ENST00000304267.8_Missense_Mutation_p.G126V|SEC61A2_ENST00000379033.3_Missense_Mutation_p.G104V|SEC61A2_ENST00000495368.1_3'UTR	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	126					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)	p.G126V(4)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				ATTACCATTGGGCAAGCCATT	0.448																																							uc001ile.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(376-378)GGG>GTG		Sec61 alpha form 2 isoform a							146.0	139.0	142.0					10																	12191875		2203	4300	6503	SO:0001583	missense	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12191875G>T	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.377G>T	10.37:g.12191875G>T	ENSP00000298428:p.Gly126Val					SEC61A2_uc010qbq.1_Missense_Mutation_p.G104V|SEC61A2_uc001ilf.3_RNA|SEC61A2_uc001ilh.3_RNA|SEC61A2_uc001ilg.3_Missense_Mutation_p.G126V	p.G126V	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN			6	524	+		Renal(717;0.228)	126			Helical; (Potential).		A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	ENST00000298428.9	37	c.377G>T	CCDS7088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.89|16.89	3.246125|3.246125	0.59103|0.59103	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000379051;ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020;ENST00000379017|ENST00000418772;ENST00000419021	.|.	.|.	.|.	5.15|5.15	5.15|5.15	0.70609|0.70609	SecY subunit domain (2);|.	0.000000|.	0.53938|.	D|.	0.000047|.	T|T	0.69314|0.69314	0.3097|0.3097	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	B;B;B|.	0.11235|.	0.001;0.003;0.004|.	B;B;B|.	0.21708|.	0.019;0.035;0.036|.	T|T	0.66775|0.66775	-0.5838|-0.5838	9|5	0.06099|.	T|.	0.92|.	-6.6475|-6.6475	17.6227|17.6227	0.88086|0.88086	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	104;126;126|.	F8W773;Q9H9S3-2;Q9H9S3|.	.;.;S61A2_HUMAN|.	V|C	126;104;126;126;126;126|71;7	.|.	ENSP00000298428:G126V|.	G|W	+|+	2|3	0|0	SEC61A2|SEC61A2	12231881|12231881	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	9.835000|9.835000	0.99442|0.99442	2.398000|2.398000	0.81561|0.81561	0.467000|0.467000	0.42956|0.42956	GGG|TGG		0.448	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		26	47	1	0	3.73988e-18	0.00632	6.66902e-18	26	47				
CUBN	8029	broad.mit.edu	37	10	16873346	16873346	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:16873346A>T	ENST00000377833.4	-	65	10498	c.10433T>A	c.(10432-10434)gTc>gAc	p.V3478D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3478	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.V3478D(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGAGAGAAGACAGGGTTTGG	0.393																																							uc001ioo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(10432-10434)GTC>GAC		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						135.0	123.0	127.0					10																	16873346		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16873346A>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10433T>A	10.37:g.16873346A>T	ENSP00000367064:p.Val3478Asp						p.V3478D	NM_001081	NP_001072	O60494	CUBN_HUMAN			65	10485	-			3478			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10433T>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027639	0.75390	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.22336	1.96	4.6	4.6	0.57074	CUB (5);	1.005780	0.08013	N	0.990714	T	0.47525	0.1450	M	0.70108	2.13	0.80722	D	1	D	0.67145	0.996	D	0.65874	0.939	T	0.20739	-1.0266	10	0.87932	D	0	.	14.1278	0.65233	1.0:0.0:0.0:0.0	.	3478	O60494	CUBN_HUMAN	D	3478;319	ENSP00000367064:V3478D	ENSP00000367064:V3478D	V	-	2	0	CUBN	16913352	1.000000	0.71417	0.901000	0.35422	0.793000	0.44817	8.455000	0.90355	1.926000	0.55796	0.459000	0.35465	GTC		0.393	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		17	66	0	0	0	0.00499	0	17	66				
COMMD3	23412	broad.mit.edu	37	10	22607738	22607738	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:22607738A>G	ENST00000376836.3	+	6	859	c.415A>G	c.(415-417)Aat>Gat	p.N139D	COMMD3-BMI1_ENST00000463409.2_3'UTR|BMI1_ENST00000376663.3_5'Flank|COMMD3_ENST00000483684.1_3'UTR|COMMD3-BMI1_ENST00000602390.1_Intron	NM_012071.3	NP_036203.1	Q9UBI1	COMD3_HUMAN	COMM domain containing 3	139	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.							p.N139D(1)		kidney(2)|lung(2)|ovary(1)	5						ATTTTAGACCAATCAACTTCA	0.323																																							uc001irf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(415-417)AAT>GAT		COMM domain containing 3							187.0	199.0	195.0					10																	22607738		2203	4300	6503	SO:0001583	missense	23412						protein binding	g.chr10:22607738A>G	AY542159	CCDS7137.1	10p12.2	2012-09-20	2004-02-13	2004-02-18	ENSG00000148444	ENSG00000148444			23332	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 8"""	C10orf8		11042152, 15799966	Standard	NM_012071		Approved	BUP		Q9UBI1	OTTHUMG00000017806	ENST00000376836.3:c.415A>G	10.37:g.22607738A>G	ENSP00000366032:p.Asn139Asp					COMMD3_uc001ire.2_3'UTR|COMMD3_uc001irg.2_RNA|BMI1_uc009xkg.2_Intron|BMI1_uc001irh.2_5'Flank	p.N139D	NM_012071	NP_036203	Q9UBI1	COMD3_HUMAN			6	463	+			139			COMM.		D3DRU7|Q5T8Y9	Missense_Mutation	SNP	ENST00000376836.3	37	c.415A>G	CCDS7137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.32|14.32	2.499942|2.499942	0.44455|0.44455	.|.	.|.	ENSG00000148444|ENSG00000148444	ENST00000376836;ENST00000376787|ENST00000456711	T|.	0.08634|.	3.07|.	5.08|5.08	3.93|3.93	0.45458|0.45458	COMM domain (1);|.	0.609667|.	0.18537|.	N|.	0.138338|.	T|T	0.71710|0.71710	0.3372|0.3372	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.71062|0.71062	-0.4701|-0.4701	10|5	0.27082|.	T|.	0.32|.	-15.3119|-15.3119	12.0635|12.0635	0.53576|0.53576	0.8557:0.1443:0.0:0.0|0.8557:0.1443:0.0:0.0	.|.	139|.	Q9UBI1|.	COMD3_HUMAN|.	D|R	139;106|106	ENSP00000366032:N139D|.	ENSP00000365983:N106D|.	N|Q	+|+	1|2	0|0	COMMD3|COMMD3	22647744|22647744	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	3.927000|3.927000	0.56499|0.56499	0.857000|0.857000	0.35407|0.35407	0.459000|0.459000	0.35465|0.35465	AAT|CAA		0.323	COMMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047159.1	NM_012071		41	79	0	0	0	0.010771	0	41	79				
FRMPD2	143162	broad.mit.edu	37	10	49430483	49430483	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:49430483G>T	ENST00000374201.3	-	12	1630	c.1328C>A	c.(1327-1329)aCa>aAa	p.T443K	FRMPD2_ENST00000305531.3_Missense_Mutation_p.T419K|FRMPD2_ENST00000407470.4_Missense_Mutation_p.T412K	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	443	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.T443K(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGGTGCCTTGTCAGGCTGTG	0.507																																							uc001jgi.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1327-1329)ACA>AAA		FERM and PDZ domain containing 2 isoform 3							84.0	73.0	77.0					10																	49430483		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49430483G>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1328C>A	10.37:g.49430483G>T	ENSP00000363317:p.Thr443Lys					FRMPD2_uc001jgh.2_Missense_Mutation_p.T412K|FRMPD2_uc001jgj.2_Missense_Mutation_p.T421K	p.T443K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	12	1435	-			443			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.1328C>A	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632206	0.87660	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.36878	1.23;1.23;1.23	5.29	5.29	0.74685	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	T	0.72285	0.3441	H	0.96080	3.765	0.50632	D	0.999888	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.964;0.995;0.964	T	0.82106	-0.0621	9	0.87932	D	0	.	16.4222	0.83766	0.0:0.0:1.0:0.0	.	419;443;412	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	K	443;419;412	ENSP00000363317:T443K;ENSP00000307079:T419K;ENSP00000384339:T412K	ENSP00000307079:T419K	T	-	2	0	FRMPD2	49100489	1.000000	0.71417	0.821000	0.32701	0.920000	0.55202	8.723000	0.91458	2.484000	0.83849	0.555000	0.69702	ACA		0.507	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		22	39	1	0	1.50039e-11	0.012319	2.19885e-11	22	39				
C10orf11	83938	broad.mit.edu	37	10	78317043	78317043	+	Silent	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:78317043C>T	ENST00000372499.1	+	6	809	c.594C>T	c.(592-594)ctC>ctT	p.L198L	C10orf11_ENST00000593699.1_3'UTR|C10orf11_ENST00000496424.2_Silent_p.L55L|RP11-325D15.2_ENST00000597938.1_RNA	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	198					melanocyte differentiation (GO:0030318)			p.L198L(1)		endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					ATGACCAGCTCTGAAGCCAAC	0.388																																							uc001jxi.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(592-594)CTC>CTT		chromosome 10 open reading frame 11							97.0	89.0	92.0					10																	78317043		2203	4300	6503	SO:0001819	synonymous_variant	83938							g.chr10:78317043C>T	AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"""oculocutaneous albinism 7, autosomal recessive"""	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.594C>T	10.37:g.78317043C>T							p.L198L	NM_032024	NP_114413	Q9H2I8	CJ011_HUMAN			6	809	+	Prostate(51;0.0095)|all_epithelial(25;0.0221)		198					B1AVW6	Silent	SNP	ENST00000372499.1	37	c.594C>T	CCDS7351.1																																																																																				0.388	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024		11	20	0	0	0	0.010729	0	11	20				
KCNMA1	3778	broad.mit.edu	37	10	78647236	78647236	+	Missense_Mutation	SNP	C	C	A	rs376264061		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:78647236C>A	ENST00000286628.8	-	28	3498	c.3499G>T	c.(3499-3501)Gtg>Ttg	p.V1167L	RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.V1167L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.V1171L|KCNMA1_ENST00000286627.5_Missense_Mutation_p.V1109L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.V1150L|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.V1109L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.V1170L|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.V1136L	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1167					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.V1109L(1)|p.V1171L(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TCCGTCGGCACGAGCTCAAAC	0.547																																							uc001jxn.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(3499-3501)GTG>TTG		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						74.0	66.0	69.0					10																	78647236		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78647236C>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3499G>T	10.37:g.78647236C>A	ENSP00000286628:p.Val1167Leu					KCNMA1_uc001jxj.2_Missense_Mutation_p.V1113L|KCNMA1_uc001jxk.1_Missense_Mutation_p.V785L|KCNMA1_uc009xrt.1_Missense_Mutation_p.V958L|KCNMA1_uc001jxl.1_Missense_Mutation_p.V792L|KCNMA1_uc001jxo.2_Missense_Mutation_p.V1150L|KCNMA1_uc001jxm.2_Missense_Mutation_p.V1109L|KCNMA1_uc001jxq.2_Missense_Mutation_p.V1139L|uc001jxp.2_5'Flank	p.V1167L	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		28	3676	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1167			Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.3499G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.906|6.906	0.536826|0.536826	0.13188|0.13188	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.82984	.|-1.64;-1.67;-1.63;-1.63;-1.64;-1.64;-1.62;-1.63;-1.63	5.3|5.3	4.36|4.36	0.52297|0.52297	.|.	.|0.058045	.|0.64402	.|D	.|0.000002	T|T	0.63604|0.63604	0.2525|0.2525	N|N	0.04063|0.04063	-0.285|-0.285	0.58432|0.58432	D|D	0.999994|0.999994	.|B;B;B;B;B;B;B;B	.|0.16802	.|0.019;0.0;0.001;0.0;0.001;0.0;0.002;0.0	.|B;B;B;B;B;B;B;B	.|0.23275	.|0.045;0.001;0.002;0.003;0.002;0.0;0.002;0.001	T|T	0.61520|0.61520	-0.7046|-0.7046	5|10	.|0.02654	.|T	.|1	-11.6894|-11.6894	15.9351|15.9351	0.79698|0.79698	0.0:0.865:0.1349:0.0|0.0:0.865:0.1349:0.0	.|.	.|1138;1139;1150;1167;1109;920;1170;1136	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.;.;.	L|L	1097;816|1109;1046;1102;1141;1104;1136;1109;1141;1171;1170;1150;920	.|ENSP00000361517:V1109L;ENSP00000361485:V1046L;ENSP00000361514:V1102L;ENSP00000396608:V1141L;ENSP00000361520:V1136L;ENSP00000286627:V1109L;ENSP00000385552:V1171L;ENSP00000346321:V1170L;ENSP00000385806:V1150L	.|ENSP00000286627:V1109L	R|V	-|-	2|1	0|0	KCNMA1|KCNMA1	78317242|78317242	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.933000|0.933000	0.57130|0.57130	4.672000|4.672000	0.61597|0.61597	2.484000|2.484000	0.83849|0.83849	0.460000|0.460000	0.39030|0.39030	CGT|GTG		0.547	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		10	24	1	0	3.07112e-06	0.010729	3.64249e-06	10	24				
BTAF1	9044	broad.mit.edu	37	10	93744142	93744142	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:93744142T>C	ENST00000265990.6	+	19	2716	c.2408T>C	c.(2407-2409)aTa>aCa	p.I803T	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	803					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I803T(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GTTTTAACAATAGATCAAGCT	0.299																																							uc001khr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2407-2409)ATA>ACA		BTAF1 RNA polymerase II, B-TFIID transcription							53.0	50.0	51.0					10																	93744142		2202	4300	6502	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93744142T>C	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.2408T>C	10.37:g.93744142T>C	ENSP00000265990:p.Ile803Thr					BTAF1_uc001khs.1_Missense_Mutation_p.I473T|BTAF1_uc001kht.1_Missense_Mutation_p.I241T	p.I803T	NM_003972	NP_003963	O14981	BTAF1_HUMAN			19	2506	+		Colorectal(252;0.0846)	803					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.2408T>C	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219730	0.58560	.	.	ENSG00000095564	ENST00000265990	D	0.91011	-2.77	5.82	5.82	0.92795	Domain of unknown function DUF3535 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91868	0.7426	M	0.68952	2.095	0.80722	D	1	P;P	0.39624	0.681;0.681	P;P	0.45753	0.492;0.492	D	0.91922	0.5548	10	0.52906	T	0.07	-41.4045	16.188	0.81967	0.0:0.0:0.0:1.0	.	803;803	Q2M1V9;O14981	.;BTAF1_HUMAN	T	803	ENSP00000265990:I803T	ENSP00000265990:I803T	I	+	2	0	BTAF1	93734122	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.216000	0.71823	0.528000	0.53228	ATA		0.299	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		5	22	0	0	0	0.000602	0	5	22				
PIK3AP1	118788	broad.mit.edu	37	10	98405277	98405277	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:98405277A>T	ENST00000339364.5	-	8	1447	c.1328T>A	c.(1327-1329)cTc>cAc	p.L443H	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.L265H	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	443					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.L443H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GGACTCATAGAGATCCTCGTC	0.537																																							uc001kmq.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(1327-1329)CTC>CAC		phosphoinositide-3-kinase adaptor protein 1							120.0	104.0	109.0					10																	98405277		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98405277A>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1328T>A	10.37:g.98405277A>T	ENSP00000339826:p.Leu443His					PIK3AP1_uc001kmp.2_Missense_Mutation_p.L265H	p.L443H	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	8	1456	-		Colorectal(252;0.0442)	443					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.1328T>A	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258594	0.80246	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.26223	2.42;1.75	5.81	5.81	0.92471	.	0.199682	0.44688	D	0.000421	T	0.35189	0.0923	L	0.43152	1.355	0.80722	D	1	D	0.64830	0.994	P	0.56865	0.808	T	0.04440	-1.0951	10	0.13853	T	0.58	-16.3806	15.3374	0.74269	1.0:0.0:0.0:0.0	.	443	Q6ZUJ8	BCAP_HUMAN	H	443;265	ENSP00000339826:L443H;ENSP00000360151:L265H	ENSP00000339826:L443H	L	-	2	0	PIK3AP1	98395267	1.000000	0.71417	0.810000	0.32431	0.827000	0.46813	8.299000	0.89946	2.210000	0.71456	0.533000	0.62120	CTC		0.537	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		10	33	0	0	0	0.008291	0	10	33				
ATRNL1	26033	broad.mit.edu	37	10	117045738	117045738	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:117045738G>A	ENST00000355044.3	+	15	2372	c.2246G>A	c.(2245-2247)gGa>gAa	p.G749E		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	749	PSI 3.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.G749E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CATCTTTGTGGAGAAGGATGG	0.303																																							uc001lcg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(2245-2247)GGA>GAA		attractin-like 1 precursor							70.0	72.0	71.0					10																	117045738		2203	4299	6502	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117045738G>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2246G>A	10.37:g.117045738G>A	ENSP00000347152:p.Gly749Glu						p.G749E	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	15	2632	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	749			PSI 3.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.2246G>A	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459837	0.84317	.	.	ENSG00000107518	ENST00000355044	T	0.16073	2.37	5.47	5.47	0.80525	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.048818	0.85682	D	0.000000	T	0.26593	0.0650	L	0.50333	1.59	0.80722	D	1	D	0.59767	0.986	P	0.48304	0.573	T	0.00822	-1.1552	10	0.54805	T	0.06	-14.1888	19.3294	0.94280	0.0:0.0:1.0:0.0	.	749	Q5VV63	ATRN1_HUMAN	E	749	ENSP00000347152:G749E	ENSP00000347152:G749E	G	+	2	0	ATRNL1	117035728	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.446000	0.80609	2.584000	0.87258	0.460000	0.39030	GGA		0.303	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		7	31	0	0	0	0.00308	0	7	31				
VAX1	11023	broad.mit.edu	37	10	118897464	118897464	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:118897464G>T	ENST00000369206.5	-	1	103	c.104C>A	c.(103-105)gCg>gAg	p.A35E	VAX1_ENST00000277905.2_Missense_Mutation_p.A35E	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	35					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A35E(2)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		GTTCCCCTCCGCGCCCTTGCT	0.612																																							uc009xyx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(103-105)GCG>GAG		ventral anterior homeobox 1 isoform a							40.0	48.0	46.0					10																	118897464		2203	4300	6503	SO:0001583	missense	11023					nucleus	sequence-specific DNA binding	g.chr10:118897464G>T	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.104C>A	10.37:g.118897464G>T	ENSP00000358207:p.Ala35Glu					VAX1_uc001ldb.1_Missense_Mutation_p.A35E	p.A35E	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	1	349	-			35					B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	c.104C>A	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933088	0.34096	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.91351	-2.13;-2.83	4.25	3.26	0.37387	.	0.271402	0.36591	N	0.002519	D	0.84183	0.5416	N	0.22421	0.69	0.33553	D	0.59636	B;P	0.41748	0.358;0.761	B;B	0.44163	0.049;0.443	D	0.86637	0.1889	10	0.39692	T	0.17	-7.4245	9.3782	0.38297	0.0916:0.2438:0.6646:0.0	.	35;35	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	E	35	ENSP00000277905:A35E;ENSP00000358207:A35E	ENSP00000277905:A35E	A	-	2	0	VAX1	118887454	1.000000	0.71417	0.998000	0.56505	0.745000	0.42441	5.442000	0.66575	1.896000	0.54893	0.305000	0.20034	GCG		0.612	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		22	63	1	0	9.57634e-11	0.00333	1.33441e-10	22	63				
PDZD8	118987	broad.mit.edu	37	10	119043833	119043833	+	Missense_Mutation	SNP	T	T	A	rs372220170		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:119043833T>A	ENST00000334464.5	-	5	2650	c.2411A>T	c.(2410-2412)cAt>cTt	p.H804L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	804					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.H804L(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AGTAACTACATGGTGGTCTGA	0.363																																							uc001lde.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2410-2412)CAT>CTT		PDZ domain containing 8							62.0	62.0	62.0					10																	119043833		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119043833T>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2411A>T	10.37:g.119043833T>A	ENSP00000334642:p.His804Leu						p.H804L	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2610	-		Colorectal(252;0.19)	804					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.2411A>T	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.400900	0.00195	.	.	ENSG00000165650	ENST00000334464	D	0.85339	-1.97	4.71	0.693	0.18056	.	0.650279	0.16198	N	0.225070	T	0.68805	0.3041	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55648	-0.8108	10	0.34782	T	0.22	-2.0235	6.5808	0.22594	0.1435:0.0:0.2979:0.5586	.	804	Q8NEN9	PDZD8_HUMAN	L	804	ENSP00000334642:H804L	ENSP00000334642:H804L	H	-	2	0	PDZD8	119033823	0.136000	0.22515	0.432000	0.26747	0.965000	0.64279	0.114000	0.15520	0.288000	0.22398	0.460000	0.39030	CAT		0.363	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		11	62	0	0	0	0.010729	0	11	62				
STK32C	282974	broad.mit.edu	37	10	134038769	134038769	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr10:134038769C>A	ENST00000368622.1	-	7	874	c.493G>T	c.(493-495)Ggg>Tgg	p.G165W	STK32C_ENST00000368625.4_Missense_Mutation_p.G295W					serine/threonine kinase 32C									p.G282W(1)|p.G295W(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCCATCACCCCCACCGACCAC	0.622																																							uc001lle.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|lung(2)|breast(1)	5						c.(844-846)GGG>TGG		serine/threonine kinase 32C							43.0	43.0	43.0					10																	134038769		2200	4300	6500	SO:0001583	missense	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134038769C>A	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.493G>T	10.37:g.134038769C>A	ENSP00000357611:p.Gly165Trp					STK32C_uc001lld.1_Missense_Mutation_p.G165W|STK32C_uc010quu.1_Missense_Mutation_p.G295W|STK32C_uc009ybc.1_Missense_Mutation_p.G165W|STK32C_uc009ybd.1_3'UTR|STK32C_uc001llb.2_Missense_Mutation_p.G53W|STK32C_uc001llc.1_RNA	p.G282W	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	7	984	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	282			Protein kinase.			Missense_Mutation	SNP	ENST00000368622.1	37	c.844G>T		.	.	.	.	.	.	.	.	.	.	C	27.6	4.845348	0.91197	.	.	ENSG00000165752	ENST00000368622;ENST00000298630;ENST00000368625	T;T;T	0.72835	-0.69;-0.69;-0.69	4.49	4.49	0.54785	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000008	D	0.90998	0.7169	H	0.99169	4.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95153	0.8274	10	0.87932	D	0	.	16.8151	0.85732	0.0:1.0:0.0:0.0	.	295;282;165	B7Z7J1;Q86UX6;Q86UX6-2	.;ST32C_HUMAN;.	W	165;282;295	ENSP00000357611:G165W;ENSP00000298630:G282W;ENSP00000357614:G295W	ENSP00000298630:G282W	G	-	1	0	STK32C	133888759	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.193000	0.77780	2.059000	0.61396	0.585000	0.79938	GGG		0.622	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		4	13	1	0	0.00024832	0.009096	0.000264944	4	13				
MUC2	4583	broad.mit.edu	37	11	1098690	1098690	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:1098690G>C	ENST00000441003.2	+	37	7087	c.7060G>C	c.(7060-7062)Gcc>Ccc	p.A2354P	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4716					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)		p.A2354P(1)		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)	CTACTACGATGCCTGCGTGTT	0.647																																							uc001lsx.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(14146-14148)GCC>CCC		mucin 2 precursor	Pranlukast(DB01411)						23.0	29.0	27.0					11																	1098690		2116	4238	6354	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1098690G>C	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7060G>C	11.37:g.1098690G>C	ENSP00000415183:p.Ala2354Pro						p.A4716P	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	40	14173	+		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)	4716					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.14146G>C		.	.	.	.	.	.	.	.	.	.	G	9.937	1.216300	0.22373	.	.	ENSG00000198788	ENST00000441003	T	0.78246	-1.16	4.09	4.09	0.47781	.	.	.	.	.	D	0.90665	0.7072	M	0.94142	3.5	0.25029	N	0.991286	D	0.76494	0.999	D	0.75020	0.985	D	0.84659	0.0705	9	0.29301	T	0.29	.	16.2957	0.82768	0.0:0.0:1.0:0.0	.	2354	E7EUV1	.	P	2354	ENSP00000415183:A2354P	ENSP00000415183:A2354P	A	+	1	0	MUC2	1088690	1.000000	0.71417	0.445000	0.26908	0.266000	0.26442	6.442000	0.73443	1.821000	0.53095	0.561000	0.74099	GCC		0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		5	12	0	0	0	0.001168	0	5	12				
MUC5B	727897	broad.mit.edu	37	11	1264035	1264035	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:1264035C>A	ENST00000529681.1	+	31	5983	c.5925C>A	c.(5923-5925)ccC>ccA	p.P1975P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P1978P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1975	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P1978P(1)|p.P1975P(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCACACCCACAGCTACCA	0.637																																							uc009ycr.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(8002-8004)CCC>CCA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							190.0	247.0	228.0					11																	1264035		2171	4259	6430	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264035C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5925C>A	11.37:g.1264035C>A						MUC5B_uc001ltb.2_Silent_p.P1978P	p.P2668P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	47	8130	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1975			7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.8004C>A	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		44	77	1	0	3.4345e-17	0.011902	5.87783e-17	44	77				
LINC01219	104355220	broad.mit.edu	37	11	2017334	2017334	+	lincRNA	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:2017334C>G	ENST00000418612.1	+	0	1444				H19_ENST00000390168.4_RNA																							TTCTGGGAGCCCAGAGGGCAG	0.602																																							uc001lvc.1		NA																	0					0						c.(919-921)GGC>CGC		SubName: Full=cDNA FLJ32212 fis, clone PLACE6003399, weakly similar to SPIDROIN 1;							16.0	17.0	17.0					11																	2017334		875	1990	2865			283120	Beckwith-Wiedemann_syndrome						g.chr11:2017334C>G																													11.37:g.2017334C>G						H19_uc001luz.1_RNA|H19_uc001lva.3_RNA|H19_uc001lvd.2_RNA|H19_uc001lve.2_RNA|H19_uc001lvb.1_RNA	p.G307R							3	1537	-									Missense_Mutation	SNP	ENST00000418612.1	37	c.919G>C																																																																																					0.602	AC051649.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000034754.1			3	4	0	0	0	0.004672	0	3	4				
KCNQ1	3784	broad.mit.edu	37	11	2591907	2591907	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:2591907G>C	ENST00000155840.5	+	3	635	c.527G>C	c.(526-528)tGg>tCg	p.W176S	KCNQ1_ENST00000335475.5_Missense_Mutation_p.W49S	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	176					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.W176S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GTCCGCCTCTGGTCCGCCGGC	0.657																																							uc001lwn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(526-528)TGG>TCG		potassium voltage-gated channel, KQT-like	Bepridil(DB01244)|Indapamide(DB00808)						87.0	77.0	80.0					11																	2591907		2202	4299	6501	SO:0001583	missense	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2591907G>C	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.527G>C	11.37:g.2591907G>C	ENSP00000155840:p.Trp176Ser					KCNQ1_uc009ydp.1_Intron|KCNQ1_uc001lwo.2_Missense_Mutation_p.W49S	p.W176S	NM_000218	NP_000209	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	3	635	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	176			Cytoplasmic (Potential).		O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	c.527G>C	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402874	0.83230	.	.	ENSG00000053918	ENST00000496887;ENST00000155840;ENST00000335475	D;D;D	0.99944	-8.51;-8.51;-8.51	4.4	4.4	0.53042	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99923	0.9964	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.992	D	0.94511	0.7718	10	0.87932	D	0	-19.2986	16.0646	0.80863	0.0:0.0:1.0:0.0	.	49;176	Q14D14;P51787	.;KCNQ1_HUMAN	S	89;176;49	ENSP00000434560:W89S;ENSP00000155840:W176S;ENSP00000334497:W49S	ENSP00000155840:W176S	W	+	2	0	KCNQ1	2548483	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	8.872000	0.92352	2.446000	0.82766	0.478000	0.44815	TGG		0.657	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		8	27	0	0	0	0.006214	0	8	27				
STIM1	6786	broad.mit.edu	37	11	4104601	4104601	+	Silent	SNP	A	A	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:4104601A>T	ENST00000300737.4	+	10	1916	c.1347A>T	c.(1345-1347)tcA>tcT	p.S449S	STIM1_ENST00000527651.1_Silent_p.S449S|STIM1_ENST00000533977.1_Silent_p.S276S	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	449					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)	p.S449S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GCATCCACTCACTGGTGGCTG	0.582																																							uc001lyv.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1345-1347)TCA>TCT		stromal interaction molecule 1 precursor							88.0	74.0	79.0					11																	4104601		2201	4298	6499	SO:0001819	synonymous_variant	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4104601A>T	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1347A>T	11.37:g.4104601A>T						STIM1_uc009yef.2_Silent_p.S449S|STIM1_uc009yeg.2_Silent_p.S276S	p.S449S	NM_003156	NP_003147	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	10	1915	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	449			Cytoplasmic (Potential).		E9PQJ4|Q8N382	Silent	SNP	ENST00000300737.4	37	c.1347A>T	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	A	9.678	1.148519	0.21288	.	.	ENSG00000167323	ENST00000526596	.	.	.	5.69	-9.78	0.00496	.	.	.	.	.	T	0.47655	0.1457	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57849	-0.7740	4	.	.	.	-32.8141	9.6422	0.39846	0.1089:0.6848:0.1031:0.1032	.	.	.	.	L	180	.	.	H	+	2	0	STIM1	4061177	0.000000	0.05858	0.816000	0.32577	0.994000	0.84299	-3.084000	0.00612	-1.538000	0.01734	0.455000	0.32223	CAC		0.582	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		16	40	0	0	0	0.004007	0	16	40				
OR52E4	390081	broad.mit.edu	37	11	5906021	5906021	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:5906021C>G	ENST00000316987.2	+	1	521	c.499C>G	c.(499-501)Cgt>Ggt	p.R167G		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R167G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCATTCTGCGTCTGCCATT	0.453																																							uc010qzs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(499-501)CGT>GGT		olfactory receptor, family 52, subfamily E,							154.0	140.0	145.0					11																	5906021		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906021C>G	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.499C>G	11.37:g.5906021C>G	ENSP00000321426:p.Arg167Gly					TRIM5_uc001mbq.1_Intron	p.R167G	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	499	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	167			Extracellular (Potential).		Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.499C>G	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391951	0.42410	.	.	ENSG00000180974	ENST00000316987	T	0.00174	8.62	5.15	0.874	0.19124	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000210	T	0.00552	0.0018	M	0.94142	3.5	0.09310	N	1	P	0.46220	0.874	P	0.58721	0.844	T	0.35325	-0.9793	10	0.87932	D	0	.	5.7145	0.17952	0.4898:0.3415:0.0:0.1687	.	167	Q8NGH9	O52E4_HUMAN	G	167	ENSP00000321426:R167G	ENSP00000321426:R167G	R	+	1	0	OR52E4	5862597	0.000000	0.05858	0.016000	0.15963	0.913000	0.54294	-0.034000	0.12225	-0.017000	0.14103	0.643000	0.83706	CGT		0.453	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		23	75	0	0	0	0.002836	0	23	75				
OR2AG1	144125	broad.mit.edu	37	11	6806406	6806406	+	Silent	SNP	C	C	A	rs564511937		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:6806406C>A	ENST00000307401.4	+	1	159	c.138C>A	c.(136-138)ctC>ctA	p.L46L		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L46L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCTACTGCTCCTGGCTATCA	0.522																																							uc001mer.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(136-138)CTC>CTA		olfactory receptor, family 2, subfamily AG,							185.0	175.0	178.0					11																	6806406		2201	4296	6497	SO:0001819	synonymous_variant	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6806406C>A	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.138C>A	11.37:g.6806406C>A							p.L46L	NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	138	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	46			Helical; Name=1; (Potential).		B9EKV7|Q6IFG7|Q96R26	Silent	SNP	ENST00000307401.4	37	c.138C>A	CCDS31414.1																																																																																				0.522	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		31	104	1	0	2.80507e-11	0.012213	4.06417e-11	31	104				
ZDHHC13	54503	broad.mit.edu	37	11	19177405	19177405	+	Silent	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:19177405C>T	ENST00000446113.2	+	9	1057	c.936C>T	c.(934-936)ttC>ttT	p.F312F	ZDHHC13_ENST00000532812.1_3'UTR|ZDHHC13_ENST00000399351.3_Silent_p.F182F	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	312					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.F312F(1)|p.F182F(1)		NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TATTGGACTTCAATTCAGATT	0.353																																							uc001mpi.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(934-936)TTC>TTT		zinc finger, DHHC domain containing 13 isoform							179.0	170.0	173.0					11																	19177405		1855	4103	5958	SO:0001819	synonymous_variant	54503				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding	g.chr11:19177405C>T	AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.936C>T	11.37:g.19177405C>T						ZDHHC13_uc001mpj.2_Silent_p.F182F	p.F312F	NM_019028	NP_061901	Q8IUH4	ZDH13_HUMAN			9	1041	+			312			Helical; (Potential).		Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Silent	SNP	ENST00000446113.2	37	c.936C>T	CCDS44550.1																																																																																				0.353	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028		20	30	0	0	0	0.010504	0	20	30				
CAT	847	broad.mit.edu	37	11	34478364	34478364	+	Splice_Site	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:34478364G>T	ENST00000241052.4	+	8	1145	c.1056G>T	c.(1054-1056)caG>caT	p.Q352H		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	352					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.Q352H(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	AAATGCTTCAGGTGAGCCTGG	0.468																																							uc001mvm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1054-1056)CAG>CAT		catalase	Fomepizole(DB01213)						73.0	57.0	62.0					11																	34478364		2202	4298	6500	SO:0001630	splice_region_variant	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34478364G>T	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1056+1G>T	11.37:g.34478364G>T						CAT_uc009ykc.1_RNA	p.Q352H	NM_001752	NP_001743	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	8	1139	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	352					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	c.1056G>T	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636083	0.87760	.	.	ENSG00000121691	ENST00000241052	D	0.93307	-3.2	5.86	4.94	0.65067	Catalase domain (1);Catalase, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97980	0.9335	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.98593	1.0655	10	0.87932	D	0	-26.3364	14.4081	0.67096	0.0702:0.0:0.9298:0.0	.	352	P04040	CATA_HUMAN	H	352	ENSP00000241052:Q352H	ENSP00000241052:Q352H	Q	+	3	2	CAT	34434940	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	7.991000	0.88244	2.771000	0.95319	0.563000	0.77884	CAG		0.468	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752	Missense_Mutation	14	34	1	0	2.23348e-06	0.004007	2.67389e-06	14	34				
LOC440040	440040	broad.mit.edu	37	11	49830115	49830115	+	RNA	SNP	C	C	T	rs559898175	byFrequency	TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:49830115C>T	ENST00000527477.1	+	0	1446																											GCTGCACATGCCCCAGCCTCT	0.463													.|||	2	0.000399361	0.0015	0.0	5008	,	,		15216	0.0		0.0	False		,,,				2504	0.0						uc010rhy.1		NA																	0					0						c.(955-957)CCC>TCC		SubName: Full=cDNA FLJ60249, highly similar to Metabotropic glutamate receptor 5;																																						440040							g.chr11:49830115C>T																													11.37:g.49830115C>T						LOC440040_uc009ymb.2_Missense_Mutation_p.P319S	p.P319S	NR_027044						6	1433	+									Missense_Mutation	SNP	ENST00000527477.1	37	c.955C>T																																																																																					0.463	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			3	29	0	0	0	0.001168	0	3	29				
OR5AR1	219493	broad.mit.edu	37	11	56431279	56431279	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:56431279G>T	ENST00000302969.2	+	1	142	c.118G>T	c.(118-120)Gtg>Ttg	p.V40L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V40L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GGTTAATGTAGTGGGGAATAT	0.443																																							uc010rjm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(118-120)GTG>TTG		olfactory receptor, family 5, subfamily AR,							264.0	258.0	260.0					11																	56431279		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431279G>T	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.118G>T	11.37:g.56431279G>T	ENSP00000302639:p.Val40Leu						p.V40L	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			1	118	+			40			Helical; Name=1; (Potential).		Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.118G>T	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	G	4.882	0.163970	0.09287	.	.	ENSG00000172459	ENST00000302969	T	0.00258	8.41	5.25	3.36	0.38483	.	0.650749	0.13017	N	0.420400	T	0.00073	0.0002	N	0.03917	-0.325	0.20638	N	0.99987	B	0.02656	0.0	B	0.01281	0.0	T	0.03017	-1.1082	10	0.20046	T	0.44	.	4.4949	0.11831	0.2722:0.1792:0.5486:0.0	.	40	Q8NGP9	O5AR1_HUMAN	L	40	ENSP00000302639:V40L	ENSP00000302639:V40L	V	+	1	0	OR5AR1	56187855	0.000000	0.05858	0.882000	0.34594	0.679000	0.39708	-2.385000	0.01062	0.772000	0.33382	0.637000	0.83480	GTG		0.443	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		53	170	1	0	7.91745e-34	0.00361	1.56508e-33	53	170				
TRPT1	83707	broad.mit.edu	37	11	63992969	63992969	+	Splice_Site	SNP	A	A	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:63992969A>C	ENST00000317459.6	-	3	326		c.e3+1		NUDT22_ENST00000279206.3_5'Flank|TRPT1_ENST00000394547.3_Splice_Site|TRPT1_ENST00000541278.1_Splice_Site|TRPT1_ENST00000546133.1_5'Flank|NUDT22_ENST00000441250.2_5'Flank|TRPT1_ENST00000546089.1_Splice_Site|TRPT1_ENST00000540472.1_Intron|TRPT1_ENST00000394546.2_Splice_Site			Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1						regulation of protein kinase activity (GO:0045859)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)		tRNA 2'-phosphotransferase activity (GO:0000215)	p.?(1)		lung(2)|skin(1)	3						GCCCCTACTTACCAGCTCCCA	0.637																																							uc001nyo.2		NA																	1	Unknown(1)		lung(1)		0						c.e3+1		tRNA phosphotransferase 1 isoform 1							33.0	31.0	32.0					11																	63992969		2201	4297	6498	SO:0001630	splice_region_variant	83707						tRNA 2'-phosphotransferase activity	g.chr11:63992969A>C		CCDS31595.1, CCDS44639.1, CCDS53652.1, CCDS53653.1	11q13	2012-05-03			ENSG00000149743	ENSG00000149743			20316	protein-coding gene	gene with protein product	"""tRNA splicing 2' phosphotransferase 1"""	610470				14504659	Standard	NM_001160389		Approved	MGC11134	uc010rnc.2	Q86TN4	OTTHUMG00000167844	ENST00000317459.6:c.157+1T>G	11.37:g.63992969A>C						TRPT1_uc010rnc.1_Splice_Site_p.D53_splice|TRPT1_uc010rnd.1_Splice_Site_p.D53_splice|TRPT1_uc001nyn.2_Splice_Site_p.D4_splice|TRPT1_uc010rne.1_Splice_Site_p.D53_splice|TRPT1_uc010rnf.1_Splice_Site_p.D53_splice|NUDT22_uc009ypd.2_5'Flank|NUDT22_uc001nyp.3_5'Flank|NUDT22_uc009ype.2_5'Flank|NUDT22_uc001nyq.3_5'Flank|NUDT22_uc010rng.1_5'Flank	p.D53_splice	NM_001033678	NP_001028850	Q86TN4	TRPT1_HUMAN			3	371	-								A8MU17|A8MYC9|F5H2B2|Q9BSB9	Splice_Site	SNP	ENST00000317459.6	37	c.157_splice	CCDS31595.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.936145	0.52972	.	.	ENSG00000149743	ENST00000394547;ENST00000394546;ENST00000541278;ENST00000317459;ENST00000546089;ENST00000545812	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7655	0.57388	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPT1	63749545	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	7.236000	0.78154	2.074000	0.62210	0.459000	0.35465	.		0.637	TRPT1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396579.1	NM_031472	Intron	6	12	0	0	0	0.00308	0	6	12				
CCDC87	55231	broad.mit.edu	37	11	66358319	66358319	+	Missense_Mutation	SNP	C	C	T	rs201450672		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:66358319C>T	ENST00000333861.3	-	1	2235	c.2168G>A	c.(2167-2169)cGg>cAg	p.R723Q	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	723					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)			p.R723Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTTCAGGGCCCGCTCCCAGGC	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		17819	0.001		0.0	False		,,,				2504	0.0						uc001oiq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2167-2169)CGG>CAG		coiled-coil domain containing 87							74.0	83.0	80.0					11																	66358319		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66358319C>T	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2168G>A	11.37:g.66358319C>T	ENSP00000328487:p.Arg723Gln					CCS_uc001oir.2_5'Flank	p.R723Q	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	2236	-			723					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.2168G>A	CCDS8145.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.422	-0.907704	0.02434	.	.	ENSG00000182791	ENST00000333861	T	0.28895	1.59	5.07	-10.1	0.00402	.	1.037910	0.07693	N	0.938971	T	0.11324	0.0276	N	0.05230	-0.09	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.46414	-0.9193	10	0.02654	T	1	.	16.5756	0.84635	0.0:0.1922:0.0:0.8078	.	723	Q9NVE4	CCD87_HUMAN	Q	723	ENSP00000328487:R723Q	ENSP00000328487:R723Q	R	-	2	0	CCDC87	66114895	0.000000	0.05858	0.033000	0.17914	0.116000	0.19942	-2.410000	0.01040	-2.253000	0.00698	-0.459000	0.05422	CGG		0.552	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		44	94	0	0	0	0.009718	0	44	94				
FGF19	9965	broad.mit.edu	37	11	69514154	69514154	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:69514154G>T	ENST00000294312.3	-	3	1292	c.527C>A	c.(526-528)cCt>cAt	p.P176H		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	176					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bile acid biosynthetic process (GO:0070858)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of JNK cascade (GO:0046330)	extracellular region (GO:0005576)	fibroblast growth factor receptor binding (GO:0005104)	p.P176H(1)		large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			GAGGTCCTCAGGCTCCTCTGG	0.587																																							uc001opf.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(526-528)CCT>CAT		fibroblast growth factor 19 precursor							117.0	116.0	116.0					11																	69514154		2200	4294	6494	SO:0001583	missense	9965				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity	g.chr11:69514154G>T	AB018122	CCDS8193.1	11q13.1	2008-02-01			ENSG00000162344	ENSG00000162344			3675	protein-coding gene	gene with protein product		603891				9931477, 10525310	Standard	NM_005117		Approved		uc001opf.3	O95750	OTTHUMG00000167886	ENST00000294312.3:c.527C>A	11.37:g.69514154G>T	ENSP00000294312:p.Pro176His						p.P176H	NM_005117	NP_005108	O95750	FGF19_HUMAN	Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		3	990	-	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		176						Missense_Mutation	SNP	ENST00000294312.3	37	c.527C>A	CCDS8193.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573961	0.28092	.	.	ENSG00000162344	ENST00000294312	T	0.77358	-1.09	4.22	2.31	0.28768	.	1.773360	0.03611	N	0.234806	T	0.58163	0.2103	N	0.14661	0.345	0.09310	N	1	D	0.57571	0.98	B	0.32289	0.143	T	0.57820	-0.7745	10	0.59425	D	0.04	-6.4496	7.5188	0.27616	0.2831:0.0:0.7169:0.0	.	176	O95750	FGF19_HUMAN	H	176	ENSP00000294312:P176H	ENSP00000294312:P176H	P	-	2	0	FGF19	69223335	0.003000	0.15002	0.001000	0.08648	0.045000	0.14185	1.229000	0.32600	0.772000	0.33382	0.555000	0.69702	CCT		0.587	FGF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396833.1	NM_005117		29	85	1	0	4.2108e-06	0.009535	4.92548e-06	29	85				
P2RY6	5031	broad.mit.edu	37	11	73008274	73008274	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:73008274G>T	ENST00000393590.2	+	2	1010	c.711G>T	c.(709-711)gcG>gcT	p.A237A	P2RY6_ENST00000538328.1_Silent_p.A237A|P2RY6_ENST00000349767.2_Silent_p.A237A|P2RY6_ENST00000393592.2_Silent_p.A237A|P2RY6_ENST00000542092.1_Silent_p.A237A|P2RY6_ENST00000540342.1_Silent_p.A237A|P2RY6_ENST00000540124.1_Silent_p.A237A|P2RY6_ENST00000393591.1_Silent_p.A237A	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	237					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)	p.A237A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GTGGCAAGGCGGCCCGCATGG	0.687																																							uc001otm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(709-711)GCG>GCT		pyrimidinergic receptor P2Y6							57.0	55.0	56.0					11																	73008274		2194	4271	6465	SO:0001819	synonymous_variant	5031				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:73008274G>T		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.711G>T	11.37:g.73008274G>T						P2RY6_uc001otn.2_Silent_p.A237A|P2RY6_uc001oto.2_Silent_p.A237A|P2RY6_uc001otp.2_Silent_p.A237A|P2RY6_uc001otq.2_Silent_p.A237A|P2RY6_uc001otr.2_Silent_p.A237A|P2RY6_uc001ots.2_Silent_p.A237A	p.A237A	NM_176796	NP_789766	Q15077	P2RY6_HUMAN			4	1116	+			237			Helical; Name=6; (Potential).		Q15754	Silent	SNP	ENST00000393590.2	37	c.711G>T	CCDS8220.1																																																																																				0.687	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			31	80	1	0	8.16721e-17	0.010818	1.37016e-16	31	80				
ARHGEF17	9828	broad.mit.edu	37	11	73020531	73020531	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:73020531G>T	ENST00000263674.3	+	1	1198	c.848G>T	c.(847-849)gGt>gTt	p.G283V	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	283					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G283V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GACCGAGACGGTGAGGGCGGC	0.677																																							uc001otu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(847-849)GGT>GTT		Rho guanine nucleotide exchange factor (GEF) 17							18.0	24.0	22.0					11																	73020531		2161	4252	6413	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73020531G>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.848G>T	11.37:g.73020531G>T	ENSP00000263674:p.Gly283Val						p.G283V	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			1	869	+			283					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.848G>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393541	0.42410	.	.	ENSG00000110237	ENST00000263674	T	0.56941	0.43	4.72	3.76	0.43208	.	0.000000	0.39020	N	0.001495	T	0.38295	0.1035	N	0.24115	0.695	0.50171	D	0.99985	B	0.20550	0.046	B	0.18263	0.021	T	0.40001	-0.9586	10	0.87932	D	0	-10.6277	12.0024	0.53240	0.0:0.0:0.8269:0.1731	.	283	Q96PE2	ARHGH_HUMAN	V	283	ENSP00000263674:G283V	ENSP00000263674:G283V	G	+	2	0	ARHGEF17	72698179	0.992000	0.36948	0.996000	0.52242	0.440000	0.31957	2.151000	0.42263	2.179000	0.69175	0.313000	0.20887	GGT		0.677	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		13	23	1	0	4.36969e-10	0.001855	5.9907e-10	13	23				
PCF11	51585	broad.mit.edu	37	11	82876987	82876987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:82876987G>T	ENST00000298281.4	+	5	1500	c.1048G>T	c.(1048-1050)Gaa>Taa	p.E350*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	350	Lys-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.E449*(1)|p.E350*(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TAAATCAGGTGAAAAAATAAC	0.303																																							uc001ozx.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1048-1050)GAA>TAA		pre-mRNA cleavage complex II protein Pcf11							41.0	35.0	37.0					11																	82876987		1798	4077	5875	SO:0001587	stop_gained	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82876987G>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1048G>T	11.37:g.82876987G>T	ENSP00000298281:p.Glu350*					PCF11_uc010rsu.1_Nonsense_Mutation_p.E350*	p.E350*	NM_015885	NP_056969	O94913	PCF11_HUMAN			5	1393	+			350			Lys-rich.		A6H8W7|O43671|Q6P0X8	Nonsense_Mutation	SNP	ENST00000298281.4	37	c.1048G>T	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	40	8.226128	0.98714	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	.	.	.	X	350	.	.	E	+	1	0	PCF11	82554635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.711000	0.74675	2.798000	0.96311	0.655000	0.94253	GAA		0.303	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		3	11	1	0	0.00024832	0.009096	0.000264944	3	11				
FAT3	120114	broad.mit.edu	37	11	92590441	92590441	+	Missense_Mutation	SNP	G	G	T	rs373148503		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:92590441G>T	ENST00000298047.6	+	19	11444	c.11427G>T	c.(11425-11427)caG>caT	p.Q3809H	FAT3_ENST00000533797.1_Missense_Mutation_p.Q144H|FAT3_ENST00000525166.1_Missense_Mutation_p.Q3659H|FAT3_ENST00000409404.2_Missense_Mutation_p.Q3809H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3809	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q3809H(2)|p.Q384H(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGACATGCAGTGTGTCAGTT	0.547										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	3	Substitution - Missense(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(11425-11427)CAG>CAT		FAT tumor suppressor homolog 3							120.0	126.0	124.0					11																	92590441		2027	4195	6222	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92590441G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11427G>T	11.37:g.92590441G>T	ENSP00000298047:p.Gln3809His	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.Q249H	p.Q3809H	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			19	11444	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3809			EGF-like 1.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.11427G>T		.	.	.	.	.	.	.	.	.	.	G	20.3	3.966850	0.74131	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.95	3.04	0.35103	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.49133	0.1539	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.99	D;P	0.87578	0.998;0.827	T	0.32719	-0.9896	9	0.25751	T	0.34	.	11.0472	0.47865	0.205:0.0:0.795:0.0	.	3809;3809	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	H	3809;3809;3659;144	ENSP00000298047:Q3809H;ENSP00000387040:Q3809H;ENSP00000432586:Q3659H;ENSP00000436399:Q144H	ENSP00000298047:Q3809H	Q	+	3	2	FAT3	92230089	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.076000	0.41548	0.836000	0.34901	0.655000	0.94253	CAG		0.547	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		18	60	1	0	1.99824e-07	0.00499	2.5101e-07	18	60				
MTNR1B	4544	broad.mit.edu	37	11	92714983	92714983	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:92714983C>A	ENST00000257068.2	+	2	600	c.594C>A	c.(592-594)acC>acA	p.T198T		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	198					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.T198T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CCGCCAGCACCCAGTACACGG	0.617																																							uc001pdk.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(592-594)ACC>ACA		melatonin receptor 1B	Ramelteon(DB00980)						66.0	63.0	64.0					11																	92714983		2201	4298	6499	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714983C>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.594C>A	11.37:g.92714983C>A							p.T198T	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	697	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	198			Extracellular (Potential).			Silent	SNP	ENST00000257068.2	37	c.594C>A	CCDS8290.1																																																																																				0.617	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			8	29	1	0	9.31168e-06	0.001855	1.06479e-05	8	29				
IL10RA	3587	broad.mit.edu	37	11	117869691	117869691	+	Missense_Mutation	SNP	G	G	T	rs78753252		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:117869691G>T	ENST00000227752.3	+	7	1192	c.1072G>T	c.(1072-1074)Gac>Tac	p.D358Y	IL10RA_ENST00000541785.1_Missense_Mutation_p.D338Y|IL10RA_ENST00000545409.1_Missense_Mutation_p.D209Y|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	358					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.D358Y(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TGTGCTGGGGGACAGCTGCAG	0.647																																							uc001prv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1072-1074)GAC>TAC		interleukin 10 receptor, alpha precursor							35.0	37.0	36.0					11																	117869691		2199	4296	6495	SO:0001583	missense	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117869691G>T	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.1072G>T	11.37:g.117869691G>T	ENSP00000227752:p.Asp358Tyr					IL10RA_uc010rxl.1_Missense_Mutation_p.D338Y|IL10RA_uc010rxm.1_Missense_Mutation_p.D338Y|IL10RA_uc010rxn.1_Missense_Mutation_p.D209Y|IL10RA_uc001prw.2_Missense_Mutation_p.D209Y	p.D358Y	NM_001558	NP_001549	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	7	1149	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	358			Cytoplasmic (Potential).		A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	c.1072G>T	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362768	0.41902	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.22743	1.94;1.94;1.94	5.13	1.83	0.25207	.	1.186490	0.05656	N	0.586087	T	0.25121	0.0610	L	0.29908	0.895	0.09310	N	1	D;P	0.54964	0.969;0.947	P;P	0.50970	0.655;0.453	T	0.28713	-1.0035	10	0.59425	D	0.04	-5.768	8.6089	0.33791	0.2898:0.0:0.7102:0.0	.	338;358	F5GYV8;Q13651	.;I10R1_HUMAN	Y	358;338;209;338	ENSP00000227752:D358Y;ENSP00000441397:D338Y;ENSP00000443019:D209Y	ENSP00000227752:D358Y	D	+	1	0	IL10RA	117374901	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.073000	0.11468	0.213000	0.20722	0.563000	0.77884	GAC		0.647	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			8	35	1	0	1.76689e-08	0.006214	2.32246e-08	8	35				
TRIM29	23650	broad.mit.edu	37	11	120008387	120008387	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:120008387G>T	ENST00000341846.5	-	1	774	c.353C>A	c.(352-354)cCc>cAc	p.P118H		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	118					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P118H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AAAGGTAACGGGTGGCTTCTT	0.617																																							uc001pwz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(352-354)CCC>CAC		tripartite motif protein TRIM29							136.0	150.0	145.0					11																	120008387		2203	4300	6503	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008387G>T	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.353C>A	11.37:g.120008387G>T	ENSP00000343129:p.Pro118His					TRIM29_uc001pxa.2_RNA	p.P118H	NM_012101	NP_036233	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	477	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	118					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.353C>A	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536505	0.45176	.	.	ENSG00000137699	ENST00000341846	T	0.39406	1.08	4.53	3.62	0.41486	.	0.096722	0.44902	D	0.000420	T	0.41511	0.1162	L	0.32530	0.975	0.20196	N	0.999925	D	0.69078	0.997	P	0.56865	0.808	T	0.13764	-1.0497	9	.	.	.	.	6.9829	0.24713	0.0887:0.0:0.7403:0.1709	.	118	Q14134	TRI29_HUMAN	H	118	ENSP00000343129:P118H	.	P	-	2	0	TRIM29	119513597	0.020000	0.18652	0.025000	0.17156	0.661000	0.39034	1.950000	0.40323	1.133000	0.42147	0.467000	0.42956	CCC		0.617	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		69	213	1	0	1.70537e-16	0.00361	2.82383e-16	69	213				
ZNF202	7753	broad.mit.edu	37	11	123600515	123600515	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:123600515C>A	ENST00000529691.1	-	3	640	c.421G>T	c.(421-423)Ggc>Tgc	p.G141C	ZNF202_ENST00000336139.4_Missense_Mutation_p.G141C|ZNF202_ENST00000530393.1_Missense_Mutation_p.G141C			O95125	ZN202_HUMAN	zinc finger protein 202	141					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)	p.G141C(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ACTTCCTGGCCGTGAACATGG	0.522																																							uc001pzd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(421-423)GGC>TGC		zinc finger protein 202							67.0	61.0	63.0					11																	123600515		2202	4299	6501	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123600515C>A	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.421G>T	11.37:g.123600515C>A	ENSP00000433881:p.Gly141Cys					ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.G141C|ZNF202_uc001pzf.1_Missense_Mutation_p.G141C	p.G141C	NM_003455	NP_003446	O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	5	821	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	141					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.421G>T	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965413	0.74131	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.08008	3.14;3.14;3.14	5.32	5.32	0.75619	Transcription regulator SCAN (1);	0.144593	0.32190	N	0.006459	T	0.17066	0.0410	L	0.32530	0.975	0.41790	D	0.989868	D	0.71674	0.998	P	0.61722	0.893	T	0.00498	-1.1704	10	0.87932	D	0	-8.7909	14.4946	0.67678	0.0:1.0:0.0:0.0	.	141	O95125	ZN202_HUMAN	C	141	ENSP00000337724:G141C;ENSP00000432504:G141C;ENSP00000433881:G141C	ENSP00000337724:G141C	G	-	1	0	ZNF202	123105725	0.716000	0.27956	0.989000	0.46669	0.995000	0.86356	2.639000	0.46570	2.482000	0.83794	0.557000	0.71058	GGC		0.522	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		17	30	1	0	7.07596e-05	0.006122	7.81112e-05	17	30				
PANX3	116337	broad.mit.edu	37	11	124487352	124487352	+	Silent	SNP	C	C	T	rs147550190		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr11:124487352C>T	ENST00000284288.2	+	3	574	c.507C>T	c.(505-507)tcC>tcT	p.S169S		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	169					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)	p.S169S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		AGAAGAGTTCCGACCCCTATG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		20793	0.0		0.001	False		,,,				2504	0.0						uc001qah.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(505-507)TCC>TCT		pannexin 3		C		1,4401	2.1+/-5.4	0,1,2200	97.0	92.0	93.0		507	-10.0	0.2	11	dbSNP_134	93	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	PANX3	NM_052959.2		0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154		169/393	124487352	2,12998	2201	4299	6500	SO:0001819	synonymous_variant	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124487352C>T	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.507C>T	11.37:g.124487352C>T							p.S169S	NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	3	507	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	169			Cytoplasmic (Potential).			Silent	SNP	ENST00000284288.2	37	c.507C>T	CCDS8447.1																																																																																				0.458	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			22	44	0	0	0	0.00278	0	22	44				
AKAP3	10566	broad.mit.edu	37	12	4736589	4736589	+	Silent	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:4736589G>C	ENST00000545990.2	-	5	2003	c.1479C>G	c.(1477-1479)tcC>tcG	p.S493S	AKAP3_ENST00000228850.1_Silent_p.S493S|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	493					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.S493S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GGTACTCAAAGGAAATGTCTG	0.458																																							uc001qnb.3		NA																	2	Substitution - coding silent(2)		lung(2)	skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(1477-1479)TCC>TCG		A-kinase anchor protein 3							70.0	66.0	67.0					12																	4736589		2203	4300	6503	SO:0001819	synonymous_variant	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4736589G>C	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1479C>G	12.37:g.4736589G>C							p.S493S	NM_006422	NP_006413	O75969	AKAP3_HUMAN			4	1708	-			493					O75945|Q86X01|Q9UM61	Silent	SNP	ENST00000545990.2	37	c.1479C>G	CCDS8531.1																																																																																				0.458	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		11	24	0	0	0	0.008291	0	11	24				
LRRC23	10233	broad.mit.edu	37	12	7014864	7014864	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:7014864G>T	ENST00000007969.8	+	2	287	c.67G>T	c.(67-69)Gag>Tag	p.E23*	LRRC23_ENST00000443597.2_Nonsense_Mutation_p.E23*|LRRC23_ENST00000433346.1_Nonsense_Mutation_p.E23*|LRRC23_ENST00000436789.1_Nonsense_Mutation_p.E23*|LRRC23_ENST00000429740.1_Nonsense_Mutation_p.E23*|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000323702.5_Nonsense_Mutation_p.E23*	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	23								p.E23*(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						agaagaggacgagaaggagac	0.517																																							uc001qrt.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(67-69)GAG>TAG		leucine rich repeat containing 23 isoform a							61.0	66.0	64.0					12																	7014864		2203	4300	6503	SO:0001587	stop_gained	10233							g.chr12:7014864G>T	BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.67G>T	12.37:g.7014864G>T	ENSP00000007969:p.Glu23*					LRRC23_uc001qrn.1_Nonsense_Mutation_p.E23*|LRRC23_uc009zfg.2_Intron|LRRC23_uc001qrp.2_Nonsense_Mutation_p.E23*|LRRC23_uc001qrq.2_Nonsense_Mutation_p.E23*|LRRC23_uc001qrr.2_Silent_p.T8T|LRRC23_uc001qrs.2_Silent_p.T8T|LRRC23_uc009zfh.2_Nonsense_Mutation_p.E23*	p.E23*	NM_001135217	NP_001128689	Q53EV4	LRC23_HUMAN			2	459	+			23					A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Nonsense_Mutation	SNP	ENST00000007969.8	37	c.67G>T	CCDS8569.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207834	0.58343	.	.	ENSG00000010626	ENST00000433346;ENST00000007969;ENST00000323702;ENST00000443597;ENST00000415834;ENST00000436789;ENST00000429740	.	.	.	4.74	3.82	0.43975	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-6.2313	8.9571	0.35825	0.1031:0.0:0.8969:0.0	.	.	.	.	X	23	.	ENSP00000007969:E23X	E	+	1	0	LRRC23	6885125	0.986000	0.35501	0.986000	0.45419	0.202000	0.24057	2.456000	0.44997	2.452000	0.82932	0.561000	0.74099	GAG		0.517	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		11	48	1	0	1.08611e-07	0.010729	1.38479e-07	11	48				
LMNTD1	160492	broad.mit.edu	37	12	25702345	25702345	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:25702345C>A	ENST00000282881.6	-	2	311	c.162G>T	c.(160-162)caG>caT	p.Q54H	IFLTD1_ENST00000458174.2_Missense_Mutation_p.Q75H|IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000413632.2_Missense_Mutation_p.Q75H|IFLTD1_ENST00000445693.1_Intron	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		54					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)	p.Q75H(1)|p.Q54H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					CTCTACTAATCTGAGGACTAG	0.408																																							uc001rgs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(160-162)CAG>CAT		intermediate filament tail domain containing 1							83.0	73.0	76.0					12																	25702345		2203	4300	6503	SO:0001583	missense	160492					intermediate filament	structural molecule activity	g.chr12:25702345C>A																												ENST00000282881.6:c.162G>T	12.37:g.25702345C>A	ENSP00000282881:p.Gln54His					IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc010sji.1_Missense_Mutation_p.Q75H|IFLTD1_uc010sjj.1_Intron|IFLTD1_uc009zjc.2_Missense_Mutation_p.Q75H	p.Q54H	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN			2	312	-	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		54					B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	c.162G>T	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069948	0.36566	.	.	ENSG00000152936	ENST00000282881;ENST00000458174;ENST00000413632;ENST00000538178;ENST00000540106;ENST00000542224	T;T;T	0.15603	2.64;2.63;2.41	3.88	1.85	0.25348	.	.	.	.	.	T	0.22551	0.0544	N	0.24115	0.695	0.09310	N	1	D;D;D	0.76494	0.999;0.992;0.975	D;P;P	0.68483	0.958;0.789;0.62	T	0.08868	-1.0701	9	0.66056	D	0.02	-22.4708	6.4009	0.21638	0.0:0.7524:0.0:0.2476	.	75;75;54	Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;ILFT1_HUMAN	H	54;75;75;29;29;29	ENSP00000282881:Q54H;ENSP00000407353:Q75H;ENSP00000393150:Q75H	ENSP00000282881:Q54H	Q	-	3	2	IFLTD1	25593612	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.335000	0.07873	0.488000	0.27723	0.650000	0.86243	CAG		0.408	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			22	49	1	0	7.87624e-14	0.00278	1.21724e-13	22	49				
OVCH1	341350	broad.mit.edu	37	12	29642629	29642629	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:29642629T>A	ENST00000318184.5	-	6	625	c.626A>T	c.(625-627)aAg>aTg	p.K209M		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	209	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.K209M(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GTTCATGCTCTTGAGCACAGT	0.483																																							uc001rix.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(625-627)AAG>ATG		ovochymase 1 precursor							118.0	115.0	116.0					12																	29642629		1957	4152	6109	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29642629T>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.626A>T	12.37:g.29642629T>A	ENSP00000326708:p.Lys209Met						p.K209M	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			6	626	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		209			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000318184.5	37	c.626A>T		.	.	.	.	.	.	.	.	.	.	T	15.94	2.979655	0.53827	.	.	ENSG00000187950	ENST00000318184	D	0.93366	-3.21	2.07	-0.326	0.12698	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.93582	0.7951	L	0.54323	1.7	0.09310	N	1	D	0.89917	1.0	D	0.71870	0.975	D	0.84474	0.0601	9	0.44086	T	0.13	.	4.2213	0.10559	0.0:0.3768:0.0:0.6232	.	209	Q7RTY7	OVCH1_HUMAN	M	209	ENSP00000326708:K209M	ENSP00000326708:K209M	K	-	2	0	OVCH1	29533896	0.010000	0.17322	0.004000	0.12327	0.930000	0.56654	-0.059000	0.11731	-0.090000	0.12462	0.460000	0.39030	AAG		0.483	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		5	17	0	0	0	0.001984	0	5	17				
KRT6B	3854	broad.mit.edu	37	12	52841671	52841671	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:52841671G>T	ENST00000252252.3	-	7	1362	c.1315C>A	c.(1315-1317)Cag>Aag	p.Q439K		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	439	Coil 2.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.Q439K(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCCAGGTCCTGCTTGGCCTTC	0.617																																							uc001sak.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1315-1317)CAG>AAG		keratin 6B							101.0	94.0	96.0					12																	52841671		2203	4298	6501	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52841671G>T	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1315C>A	12.37:g.52841671G>T	ENSP00000252252:p.Gln439Lys						p.Q439K	NM_005555	NP_005546	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	7	1363	-			439			Rod.|Coil 2.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.1315C>A	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485129	0.63962	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.85171	-1.95	2.65	1.73	0.24493	Filament (1);	0.000000	0.56097	D	0.000033	D	0.85331	0.5672	M	0.84433	2.695	0.30598	N	0.760817	B	0.32862	0.387	B	0.33960	0.173	D	0.84506	0.0619	10	0.87932	D	0	.	11.7749	0.51981	0.0:0.4261:0.5738:0.0	.	439	P04259	K2C6B_HUMAN	K	439;399	ENSP00000252252:Q439K	ENSP00000252252:Q439K	Q	-	1	0	KRT6B	51127938	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.118000	0.41949	0.662000	0.31006	0.305000	0.20034	CAG		0.617	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		36	76	1	0	6.97489e-18	0.004878	1.21822e-17	36	76				
KRT4	3851	broad.mit.edu	37	12	53201583	53201583	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:53201583G>T	ENST00000551956.1	-	7	1683	c.1191C>A	c.(1189-1191)gcC>gcA	p.A397A	KRT4_ENST00000293774.4_Silent_p.A471A|KRT4_ENST00000458244.2_Silent_p.A377A			P19013	K2C4_HUMAN	keratin 4	411	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.A471A(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCTTGCTGTGGGCATCTTTAA	0.562																																					Pancreas(190;284 2995 41444 45903)	Pancreas(190;284 2995 41444 45903)	uc001saz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)	6						c.(1411-1413)GCC>GCA		keratin 4							85.0	81.0	82.0					12																	53201583		2203	4300	6503	SO:0001819	synonymous_variant	3851					keratin filament	structural molecule activity	g.chr12:53201583G>T		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1191C>A	12.37:g.53201583G>T							p.A471A	NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN			7	1684	-			397					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	c.1413C>A	CCDS41787.2																																																																																				0.562	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		17	38	1	0	5.03518e-11	0.007413	7.17303e-11	17	38				
DGKA	1606	broad.mit.edu	37	12	56346633	56346633	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:56346633G>A	ENST00000331886.5	+	21	2313	c.1859G>A	c.(1858-1860)gGg>gAg	p.G620E	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.G620E|DGKA_ENST00000551156.1_Missense_Mutation_p.G620E	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	620					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)	p.G620E(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	AGACCCCATGGGGATATCTAT	0.532																																							uc001sij.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1858-1860)GGG>GAG		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						145.0	133.0	137.0					12																	56346633		2203	4300	6503	SO:0001583	missense	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56346633G>A	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1859G>A	12.37:g.56346633G>A	ENSP00000328405:p.Gly620Glu					DGKA_uc009zod.1_Missense_Mutation_p.G539E|DGKA_uc001sik.2_Missense_Mutation_p.G620E|DGKA_uc001sil.2_Missense_Mutation_p.G620E|DGKA_uc001sim.2_Missense_Mutation_p.G620E|DGKA_uc001sin.2_Missense_Mutation_p.G620E|DGKA_uc009zof.2_Missense_Mutation_p.G266E|DGKA_uc001sio.2_Missense_Mutation_p.G362E	p.G620E	NM_001345	NP_001336	P23743	DGKA_HUMAN			21	2123	+			620					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	c.1859G>A	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414631	0.25465	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	T;T;T;T	0.60920	1.67;0.15;1.67;1.67	4.67	3.75	0.43078	Diacylglycerol kinase, accessory domain (2);	0.264321	0.34603	N	0.003829	T	0.60753	0.2293	L	0.55481	1.735	0.09310	N	1	P;B	0.37985	0.613;0.436	P;B	0.47299	0.543;0.315	T	0.56245	-0.8011	10	0.46703	T	0.11	.	12.771	0.57421	0.0884:0.0:0.9115:0.0	.	539;620	G3V4E1;P23743	.;DGKA_HUMAN	E	620;539;620;620	ENSP00000328405:G620E;ENSP00000451743:G539E;ENSP00000377703:G620E;ENSP00000450359:G620E	ENSP00000328405:G620E	G	+	2	0	DGKA	54632900	0.076000	0.21285	0.049000	0.19019	0.308000	0.27856	2.221000	0.42917	2.315000	0.78130	0.313000	0.20887	GGG		0.532	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			32	142	0	0	0	0.010818	0	32	142				
GLI1	2735	broad.mit.edu	37	12	57858560	57858560	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:57858560C>T	ENST00000228682.2	+	4	389	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	GLI1_ENST00000546141.1_Missense_Mutation_p.R59C|GLI1_ENST00000543426.1_5'UTR	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	100					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.R100C(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GACGGTTATCCGCACCTCACC	0.567																																					Pancreas(157;841 1936 10503 41495 50368)	Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(298-300)CGC>TGC		GLI family zinc finger 1 isoform 1							135.0	108.0	117.0					12																	57858560		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57858560C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.298C>T	12.37:g.57858560C>T	ENSP00000228682:p.Arg100Cys					GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_5'UTR|GLI1_uc009zpr.1_RNA	p.R100C	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		4	376	+			100					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.298C>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	c	18.19	3.567884	0.65651	.	.	ENSG00000111087	ENST00000228682;ENST00000546141;ENST00000528432;ENST00000528467	T;T;T	0.61040	0.14;0.3;0.3	3.62	3.62	0.41486	.	0.000000	0.47455	D	0.000221	T	0.73102	0.3544	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76228	-0.3036	10	0.87932	D	0	.	10.0352	0.42125	0.202:0.798:0.0:0.0	.	100	P08151	GLI1_HUMAN	C	100;59;100;59	ENSP00000228682:R100C;ENSP00000441006:R59C;ENSP00000434408:R59C	ENSP00000228682:R100C	R	+	1	0	GLI1	56144827	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	1.397000	0.34543	2.017000	0.59298	0.556000	0.70494	CGC		0.567	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		24	55	0	0	0	0.00278	0	24	55				
GLI1	2735	broad.mit.edu	37	12	57858976	57858976	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:57858976G>T	ENST00000228682.2	+	5	563	c.472G>T	c.(472-474)Gac>Tac	p.D158Y	GLI1_ENST00000546141.1_Missense_Mutation_p.D117Y|GLI1_ENST00000543426.1_Missense_Mutation_p.D30Y	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	158					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.D158Y(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGGTCCCCATGACTCTGCCCG	0.597																																					Pancreas(157;841 1936 10503 41495 50368)	Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(472-474)GAC>TAC		GLI family zinc finger 1 isoform 1							57.0	54.0	55.0					12																	57858976		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57858976G>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.472G>T	12.37:g.57858976G>T	ENSP00000228682:p.Asp158Tyr					GLI1_uc009zpq.2_Missense_Mutation_p.D30Y	p.D158Y	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		5	550	+			158					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.472G>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940768	0.34283	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T;T	0.72942	-0.7;2.7;2.61;2.68;2.68	3.63	3.63	0.41609	.	0.127693	0.34555	N	0.003862	T	0.51024	0.1650	N	0.22421	0.69	0.36772	D	0.883847	B	0.32101	0.356	B	0.34931	0.192	T	0.53387	-0.8446	10	0.02654	T	1	.	10.9739	0.47454	0.0:0.0:1.0:0.0	.	158	P08151	GLI1_HUMAN	Y	30;30;158;117;117;30	ENSP00000436671:D30Y;ENSP00000437607:D30Y;ENSP00000228682:D158Y;ENSP00000441006:D117Y;ENSP00000434408:D117Y	ENSP00000228682:D158Y	D	+	1	0	GLI1	56145243	0.997000	0.39634	0.982000	0.44146	0.558000	0.35554	3.541000	0.53618	2.020000	0.59435	0.561000	0.74099	GAC		0.597	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		9	32	1	0	1.58986e-06	0.008291	1.9214e-06	9	32				
SRGAP1	57522	broad.mit.edu	37	12	64491115	64491115	+	Silent	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:64491115C>T	ENST00000355086.3	+	15	2297	c.1773C>T	c.(1771-1773)ctC>ctT	p.L591L	SRGAP1_ENST00000543397.1_Silent_p.L528L|SRGAP1_ENST00000357825.3_Silent_p.L568L|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	591	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.L591L(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAAACCCCCTCTTTCCTAAGG	0.393																																							uc010ssp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1771-1773)CTC>CTT		SLIT-ROBO Rho GTPase activating protein 1							91.0	89.0	90.0					12																	64491115		2203	4300	6503	SO:0001819	synonymous_variant	57522				axon guidance	cytosol		g.chr12:64491115C>T	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1773C>T	12.37:g.64491115C>T						SRGAP1_uc001srv.2_Silent_p.L528L	p.L591L	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	15	1829	+			591			Rho-GAP.		Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	c.1773C>T	CCDS8967.1																																																																																				0.393	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			12	42	0	0	0	0.010729	0	12	42				
LHX5	64211	broad.mit.edu	37	12	113907096	113907096	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:113907096C>A	ENST00000261731.3	-	2	801	c.228G>T	c.(226-228)ctG>ctT	p.L76L	LHX5_ENST00000557836.1_5'Flank|RP11-82C23.2_ENST00000551357.2_RNA	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	76	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L76L(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						CCTTGCGCACCAGGTCGCTGG	0.602																																							uc001tvj.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(226-228)CTG>CTT		LIM homeobox protein 5							95.0	87.0	90.0					12																	113907096		2203	4300	6503	SO:0001819	synonymous_variant	64211					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:113907096C>A	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"""Homeoboxes / LIM class"""	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.228G>T	12.37:g.113907096C>A							p.L76L	NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN			2	802	-			76			LIM zinc-binding 2.		Q32MA4	Silent	SNP	ENST00000261731.3	37	c.228G>T	CCDS9171.1																																																																																				0.602	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	NM_022363		18	53	1	0	8.04996e-18	0.012319	1.39642e-17	18	53				
TBX5	6910	broad.mit.edu	37	12	114793888	114793888	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:114793888G>A	ENST00000310346.4	-	9	1672	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y	TBX5_ENST00000349716.5_Missense_Mutation_p.H286Y|TBX5_ENST00000405440.2_Missense_Mutation_p.H336Y	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	336					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.H336Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTATAGGGATGGTCTGTGGTG	0.532																																					NSCLC(152;1358 1980 4050 23898 40356)	NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(1006-1008)CAT>TAT		T-box 5 isoform 1							125.0	118.0	120.0					12																	114793888		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793888G>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1006C>T	12.37:g.114793888G>A	ENSP00000309913:p.His336Tyr					TBX5_uc001tvp.2_Missense_Mutation_p.H336Y|TBX5_uc001tvq.2_Missense_Mutation_p.H286Y	p.H336Y	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	9	1501	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		336					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.1006C>T	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285255	0.59867	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.50001	0.76;0.76;0.76	5.27	5.27	0.74061	.	0.244015	0.44097	D	0.000486	T	0.45094	0.1325	M	0.72894	2.215	0.80722	D	1	P	0.42827	0.791	B	0.37943	0.261	T	0.52366	-0.8585	10	0.02654	T	1	.	18.8889	0.92391	0.0:0.0:1.0:0.0	.	336	Q99593	TBX5_HUMAN	Y	286;336;233;336	ENSP00000337723:H286Y;ENSP00000309913:H336Y;ENSP00000384152:H336Y	ENSP00000309913:H336Y	H	-	1	0	TBX5	113278271	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.476000	0.97823	2.463000	0.83235	0.655000	0.94253	CAT		0.532	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		7	110	0	0	0	0.001984	0	7	110				
RPLP0	6175	broad.mit.edu	37	12	120636469	120636469	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr12:120636469A>C	ENST00000551150.1	-	5	854	c.539T>G	c.(538-540)aTc>aGc	p.I180S	RPLP0_ENST00000392514.4_Missense_Mutation_p.I180S|RPLP0_ENST00000552292.1_5'Flank|RPLP0_ENST00000313104.5_Intron|RPLP0_ENST00000546989.1_Intron|PXN-AS1_ENST00000538804.1_RNA|RPLP0_ENST00000228306.4_Missense_Mutation_p.I180S|PXN-AS1_ENST00000539446.1_RNA|PXN-AS1_ENST00000542314.1_RNA|PXN-AS1_ENST00000535200.1_RNA|RPLP0_ENST00000550296.1_5'Flank|PXN-AS1_ENST00000542265.1_RNA			P05388	RLA0_HUMAN	ribosomal protein, large, P0	180					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.I180S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAGGGGGAGATGTTGAGCAT	0.507																																							uc001txp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(538-540)ATC>AGC		ribosomal protein P0							85.0	80.0	82.0					12																	120636469		2203	4300	6503	SO:0001583	missense	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120636469A>C	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.539T>G	12.37:g.120636469A>C	ENSP00000449328:p.Ile180Ser					RPLP0_uc001txq.2_Missense_Mutation_p.I180S|RPLP0_uc001txr.2_Intron|uc001txs.1_5'Flank	p.I180S	NM_053275	NP_444505	P05388	RLA0_HUMAN			6	776	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		180					Q3B7A4|Q9BVK4	Missense_Mutation	SNP	ENST00000551150.1	37	c.539T>G	CCDS9193.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.713452	0.89112	.	.	ENSG00000089157	ENST00000392514;ENST00000551150;ENST00000228306;ENST00000546990;ENST00000547211;ENST00000550856	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	U	0.000000	D	0.83769	0.5326	H	0.94771	3.58	0.80722	D	1	D	0.53312	0.959	P	0.55055	0.767	D	0.88699	0.3214	9	0.87932	D	0	.	15.626	0.76859	1.0:0.0:0.0:0.0	.	180	P05388	RLA0_HUMAN	S	180;180;180;131;160;180	.	ENSP00000339027:I180S	I	-	2	0	RPLP0	119120852	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.249000	0.95470	2.102000	0.63906	0.533000	0.62120	ATC		0.507	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		17	48	0	0	0	0.008871	0	17	48				
TRPC4	7223	broad.mit.edu	37	13	38237654	38237654	+	Silent	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr13:38237654T>C	ENST00000379705.3	-	6	2444	c.1587A>G	c.(1585-1587)gcA>gcG	p.A529A	TRPC4_ENST00000447043.1_Silent_p.A529A|TRPC4_ENST00000379673.2_Silent_p.A529A|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Silent_p.A529A|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000338947.5_Silent_p.A356A|TRPC4_ENST00000379679.1_Silent_p.A356A|TRPC4_ENST00000379681.3_Silent_p.A529A|TRPC4_ENST00000358477.2_Silent_p.A529A			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	529					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.A529A(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CATTTGCAAATGCTAGCAACA	0.373																																							uc001uws.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|breast(1)	6						c.(1585-1587)GCA>GCG		transient receptor potential cation channel,							84.0	80.0	81.0					13																	38237654		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38237654T>C	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1587A>G	13.37:g.38237654T>C						TRPC4_uc010abv.2_Silent_p.A109A|TRPC4_uc001uwt.2_Silent_p.A529A|TRPC4_uc010tey.1_Silent_p.A529A|TRPC4_uc010abw.2_Silent_p.A356A|TRPC4_uc010abx.2_Silent_p.A529A|TRPC4_uc010aby.2_Silent_p.A529A	p.A529A	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	6	1822	-			529			Helical; (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.1587A>G	CCDS9365.1																																																																																				0.373	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		23	26	0	0	0	0.002299	0	23	26				
CKAP2	26586	broad.mit.edu	37	13	53036592	53036592	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr13:53036592G>A	ENST00000378037.5	+	5	1288	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	CKAP2_ENST00000258607.5_Missense_Mutation_p.E399K|CKAP2_ENST00000378034.3_Missense_Mutation_p.E399K|CKAP2_ENST00000490903.1_Missense_Mutation_p.E351K	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2									p.E399K(1)		breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AGGACAAAATGAAAAACCAGT	0.408																																							uc001vgv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1198-1200)GAA>AAA		cytoskeleton associated protein 2 isoform 2							69.0	71.0	71.0					13																	53036592		2203	4300	6503	SO:0001583	missense	26586				apoptosis|cell cycle	centrosome|microtubule|spindle pole		g.chr13:53036592G>A	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1198G>A	13.37:g.53036592G>A	ENSP00000367276:p.Glu400Lys					CKAP2_uc001vgt.2_Missense_Mutation_p.E399K|CKAP2_uc001vgu.2_Missense_Mutation_p.E399K|CKAP2_uc010tha.1_Missense_Mutation_p.E351K	p.E400K	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	5	1395	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	400						Missense_Mutation	SNP	ENST00000378037.5	37	c.1198G>A	CCDS41893.1	.	.	.	.	.	.	.	.	.	.	.	12.11	1.838145	0.32513	.	.	ENSG00000136108	ENST00000398044;ENST00000258607;ENST00000378034;ENST00000378037;ENST00000490903	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.76	4.91	0.64330	.	0.446577	0.21228	N	0.078026	T	0.26268	0.0641	M	0.64404	1.975	0.09310	N	0.999993	B;B;B;B	0.27997	0.021;0.021;0.197;0.037	B;B;B;B	0.27796	0.013;0.013;0.083;0.024	T	0.27571	-1.0070	10	0.66056	D	0.02	-9.9298	8.0823	0.30752	0.0832:0.1616:0.7552:0.0	.	351;400;399;400	E9PD90;Q8WWK9;B2RMQ4;A8MYU4	.;CKAP2_HUMAN;.;.	K	400;399;399;400;351	ENSP00000258607:E399K;ENSP00000367273:E399K;ENSP00000367276:E400K;ENSP00000417830:E351K	ENSP00000258607:E399K	E	+	1	0	CKAP2	51934593	0.636000	0.27207	0.041000	0.18516	0.815000	0.46073	0.850000	0.27737	1.393000	0.46605	0.655000	0.94253	GAA		0.408	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2			13	31	0	0	0	0.001368	0	13	31				
SLITRK1	114798	broad.mit.edu	37	13	84454814	84454814	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr13:84454814G>T	ENST00000377084.2	-	1	1714	c.829C>A	c.(829-831)Caa>Aaa	p.Q277K		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	277					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.Q277K(1)		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)		GTCTCTTCTTGGGCAGGGGGC	0.542																																							uc001vlk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(829-831)CAA>AAA		slit and trk like 1 protein precursor							61.0	64.0	63.0					13																	84454814		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454814G>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.829C>A	13.37:g.84454814G>T	ENSP00000366288:p.Gln277Lys						p.Q277K	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1715	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	277			Extracellular (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.829C>A	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	3.486	-0.104932	0.06967	.	.	ENSG00000178235	ENST00000377084	T	0.44083	0.93	4.95	4.95	0.65309	.	0.058354	0.64402	D	0.000002	T	0.25457	0.0619	N	0.19112	0.55	0.46185	D	0.998918	B	0.18968	0.032	B	0.20184	0.028	T	0.06180	-1.0841	10	0.05959	T	0.93	-8.5831	13.4791	0.61326	0.0:0.1581:0.8419:0.0	.	277	Q96PX8	SLIK1_HUMAN	K	277	ENSP00000366288:Q277K	ENSP00000366288:Q277K	Q	-	1	0	SLITRK1	83352815	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.819000	0.69243	2.572000	0.86782	0.555000	0.69702	CAA		0.542	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		21	28	1	0	7.41877e-09	0.012319	9.90464e-09	21	28				
SLC15A1	6564	broad.mit.edu	37	13	99340562	99340562	+	Silent	SNP	A	A	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr13:99340562A>T	ENST00000376503.5	-	20	1678	c.1623T>A	c.(1621-1623)ccT>ccA	p.P541P		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	541					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)	p.P541P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TATTGAAATTAGGTTGACATT	0.323																																							uc001vno.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1621-1623)CCT>CCA		solute carrier family 15 (oligopeptide	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						82.0	82.0	82.0					13																	99340562		2203	4300	6503	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99340562A>T	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1623T>A	13.37:g.99340562A>T							p.P541P	NM_005073	NP_005064	P46059	S15A1_HUMAN			20	1700	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		541			Extracellular (Potential).		Q5VW82	Silent	SNP	ENST00000376503.5	37	c.1623T>A	CCDS9489.1																																																																																				0.323	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		16	79	0	0	0	0.006122	0	16	79				
FUT8	2530	broad.mit.edu	37	14	66028456	66028456	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr14:66028456G>A	ENST00000360689.5	+	3	1902	c.175G>A	c.(175-177)Gac>Aac	p.D59N	FUT8_ENST00000394586.2_Missense_Mutation_p.D59N|FUT8_ENST00000358307.2_Intron|FUT8_ENST00000557164.1_Intron|FUT8_ENST00000394585.1_Missense_Mutation_p.D59N	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	59					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)	p.D59N(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ACAGAATGAAGACTTGAGGCG	0.428																																							uc001xin.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(175-177)GAC>AAC		fucosyltransferase 8 isoform a							69.0	67.0	67.0					14																	66028456		2203	4299	6502	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66028456G>A	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.175G>A	14.37:g.66028456G>A	ENSP00000353910:p.Asp59Asn					FUT8_uc001xio.2_Missense_Mutation_p.D59N|FUT8_uc010tsp.1_Intron|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.D59N|FUT8_uc001xiq.2_Intron	p.D59N	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	3	1372	+			59			Lumenal (Potential).		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.175G>A	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801109	0.70567	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000394585	T;T;T	0.22336	1.96;1.96;1.96	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.15869	0.0382	N	0.14661	0.345	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.04579	-1.0941	10	0.45353	T	0.12	-15.059	17.6515	0.88165	0.0:0.0:1.0:0.0	.	59	Q9BYC5	FUT8_HUMAN	N	59	ENSP00000353910:D59N;ENSP00000378087:D59N;ENSP00000378086:D59N	ENSP00000345865:D59N	D	+	1	0	FUT8	65098209	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.767000	0.95098	0.655000	0.94253	GAC		0.428	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		16	21	0	0	0	0.004007	0	16	21				
NPAP1	23742	broad.mit.edu	37	15	24922411	24922411	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr15:24922411C>A	ENST00000329468.2	+	1	1871	c.1397C>A	c.(1396-1398)cCt>cAt	p.P466H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	466	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P466H(1)									CTGGCTCTTCCTGCTGACCTT	0.493																																							uc001ywo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1396-1398)CCT>CAT		hypothetical protein LOC23742							190.0	186.0	187.0					15																	24922411		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922411C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1397C>A	15.37:g.24922411C>A	ENSP00000333735:p.Pro466His						p.P466H	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1871	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	466			Pro-rich.			Missense_Mutation	SNP	ENST00000329468.2	37	c.1397C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.85	2.061929	0.36373	.	.	ENSG00000185823	ENST00000329468	T	0.09255	3.0	2.07	1.08	0.20341	.	0.856152	0.09587	N	0.782035	T	0.09818	0.0241	L	0.38175	1.15	0.09310	N	1	P	0.39094	0.659	B	0.40134	0.32	T	0.30794	-0.9966	10	0.72032	D	0.01	.	5.6316	0.17514	0.3231:0.6769:0.0:0.0	.	466	Q9NZP6	CO002_HUMAN	H	466	ENSP00000333735:P466H	ENSP00000333735:P466H	P	+	2	0	C15orf2	22473504	0.001000	0.12720	0.000000	0.03702	0.340000	0.28889	0.204000	0.17335	0.386000	0.24997	0.313000	0.20887	CCT		0.493	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		35	116	1	0	4.3181e-19	0.002836	7.86511e-19	35	116				
NPAP1	23742	broad.mit.edu	37	15	24923271	24923271	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr15:24923271G>T	ENST00000329468.2	+	1	2731	c.2257G>T	c.(2257-2259)Gtc>Ttc	p.V753F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	753					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.V753F(1)									TGCACAGTCAGTCAGGGCACC	0.567																																							uc001ywo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(2257-2259)GTC>TTC		hypothetical protein LOC23742							116.0	123.0	121.0					15																	24923271		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923271G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2257G>T	15.37:g.24923271G>T	ENSP00000333735:p.Val753Phe						p.V753F	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	2731	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	753						Missense_Mutation	SNP	ENST00000329468.2	37	c.2257G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	6.818	0.520095	0.13005	.	.	ENSG00000185823	ENST00000329468	T	0.08102	3.13	2.2	-1.08	0.09936	.	2.649080	0.01792	N	0.032397	T	0.08758	0.0217	N	0.14661	0.345	0.09310	N	1	D	0.65815	0.995	P	0.55011	0.766	T	0.15578	-1.0432	10	0.23302	T	0.38	.	2.6893	0.05116	0.3457:0.2586:0.3957:0.0	.	753	Q9NZP6	CO002_HUMAN	F	753	ENSP00000333735:V753F	ENSP00000333735:V753F	V	+	1	0	C15orf2	22474364	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.265000	0.08644	-0.281000	0.09141	0.195000	0.17529	GTC		0.567	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		41	114	1	0	4.14481e-20	0.00623	7.77152e-20	41	114				
SPTBN5	51332	broad.mit.edu	37	15	42147077	42147077	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr15:42147077C>A	ENST00000320955.6	-	56	9748	c.9521G>T	c.(9520-9522)cGg>cTg	p.R3174L	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3174					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.R3174L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGGTGCACCCCGCTCCAGGGT	0.587																																							uc001zos.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(9415-9417)CGG>CTG		spectrin, beta, non-erythrocytic 5							59.0	61.0	61.0					15																	42147077		1915	4130	6045	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42147077C>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9521G>T	15.37:g.42147077C>A	ENSP00000317790:p.Arg3174Leu						p.R3139L	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	56	9749	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	3174			Spectrin 28.			Missense_Mutation	SNP	ENST00000320955.6	37	c.9416G>T		.	.	.	.	.	.	.	.	.	.	.	14.73	2.623093	0.46840	.	.	ENSG00000137877	ENST00000320955	T	0.49720	0.77	5.2	-4.79	0.03200	.	0.667620	0.13784	N	0.363007	T	0.44808	0.1311	L	0.53249	1.67	0.09310	N	1	D	0.54601	0.967	P	0.52309	0.695	T	0.41805	-0.9488	10	0.52906	T	0.07	.	6.634	0.22874	0.2031:0.178:0.0:0.6189	.	3174	Q9NRC6	SPTN5_HUMAN	L	3174	ENSP00000317790:R3174L	ENSP00000317790:R3174L	R	-	2	0	SPTBN5	39934369	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-0.313000	0.08103	-0.851000	0.04147	0.655000	0.94253	CGG		0.587	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		12	40	1	0	1.5842e-08	0.001855	2.10402e-08	12	40				
ADAMTS17	170691	broad.mit.edu	37	15	100636656	100636656	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr15:100636656C>A	ENST00000268070.4	-	15	2147	c.2042G>T	c.(2041-2043)gGg>gTg	p.G681V		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	681	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G681V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGCTGCAGACCCGATGATGCC	0.572																																							uc002bvv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2041-2043)GGG>GTG		ADAM metallopeptidase with thrombospondin type 1							91.0	100.0	97.0					15																	100636656		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100636656C>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2042G>T	15.37:g.100636656C>A	ENSP00000268070:p.Gly681Val					ADAMTS17_uc002bvx.1_Missense_Mutation_p.G438V	p.G681V	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	15	2121	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		681			Cys-rich.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.2042G>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272091	0.80469	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.71222	-0.55	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.88444	0.6438	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91402	0.5144	10	0.87932	D	0	.	17.6927	0.88272	0.0:1.0:0.0:0.0	.	438;681	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	V	681;438	ENSP00000268070:G681V	ENSP00000268070:G681V	G	-	2	0	ADAMTS17	98454179	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	6.694000	0.74587	2.466000	0.83321	0.655000	0.94253	GGG		0.572	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		23	86	1	0	1.10513e-12	0.002299	1.66751e-12	23	86				
IL21R	50615	broad.mit.edu	37	16	27445756	27445756	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr16:27445756G>T	ENST00000337929.3	+	3	611	c.138G>T	c.(136-138)acG>acT	p.T46T	IL21R_ENST00000564089.1_Silent_p.T46T|IL21R_ENST00000395754.4_Silent_p.T46T|IL21R_ENST00000395755.1_Silent_p.T46T	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	46	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.T46T(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ACCCCAGCACGCTCACCCTTA	0.617			T	BCL6	NHL																																		uc002doq.1		NA		Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(136-138)ACG>ACT		interleukin 21 receptor precursor							100.0	73.0	82.0					16																	27445756		2197	4300	6497	SO:0001819	synonymous_variant	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27445756G>T	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.138G>T	16.37:g.27445756G>T						IL21R_uc002dor.1_Silent_p.T46T|IL21R_uc002dos.1_Silent_p.T46T	p.T46T	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			3	371	+			46			Extracellular (Potential).		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Silent	SNP	ENST00000337929.3	37	c.138G>T	CCDS10630.1																																																																																				0.617	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		7	7	1	0	5.18039e-06	0.00308	6.03196e-06	7	7				
SALL1	6299	broad.mit.edu	37	16	51176012	51176012	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr16:51176012C>G	ENST00000251020.4	-	2	154	c.121G>C	c.(121-123)Gat>Cat	p.D41H	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	41					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)	p.D41H(1)		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)			ACGTGGGCATCCTTGCTCTTA	0.458																																					GBM(103;1352 1446 1855 4775 8890)	GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(3)	8						c.(121-123)GAT>CAT		sal-like 1 isoform a							96.0	99.0	98.0					16																	51176012		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.chr16:51176012C>G	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.121G>C	16.37:g.51176012C>G	ENSP00000251020:p.Asp41His					SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	p.D41H	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	152	-		all_cancers(37;0.0322)	41					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.121G>C	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361273	0.82353	.	.	ENSG00000103449	ENST00000251020;ENST00000457559	T	0.42900	0.96	5.47	5.47	0.80525	.	0.142348	0.64402	D	0.000006	T	0.53174	0.1780	L	0.49126	1.545	0.80722	D	1	D	0.62365	0.991	P	0.52710	0.707	T	0.56208	-0.8017	10	0.87932	D	0	.	19.3259	0.94262	0.0:1.0:0.0:0.0	.	41	Q9NSC2	SALL1_HUMAN	H	41	ENSP00000251020:D41H	ENSP00000251020:D41H	D	-	1	0	SALL1	49733513	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.088000	0.71371	2.546000	0.85860	0.555000	0.69702	GAT		0.458	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		28	84	0	0	0	0.010818	0	28	84				
TXNL4B	54957	broad.mit.edu	37	16	72124580	72124580	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr16:72124580C>A	ENST00000268483.3	-	2	390	c.69G>T	c.(67-69)gaG>gaT	p.E23D	TXNL4B_ENST00000423037.1_Missense_Mutation_p.E23D|TXNL4B_ENST00000426362.2_Missense_Mutation_p.E23D|DHX38_ENST00000268482.3_5'Flank	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	23					mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)		p.E23D(1)		cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						CCAACACCTTCTCAGCAGTAC	0.393																																							uc002fca.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(67-69)GAG>GAT		thioredoxin-like 4B							208.0	176.0	187.0					16																	72124580		2198	4300	6498	SO:0001583	missense	54957				mitosis|mRNA processing|RNA splicing	spliceosomal complex		g.chr16:72124580C>A	BC009646	CCDS10906.1	16q22.2	2012-11-19			ENSG00000140830	ENSG00000140830			26041	protein-coding gene	gene with protein product						15161931	Standard	NM_017853		Approved	FLJ20511, DLP, Dim2	uc010vmn.2	Q9NX01	OTTHUMG00000173453	ENST00000268483.3:c.69G>T	16.37:g.72124580C>A	ENSP00000268483:p.Glu23Asp					TXNL4B_uc010cgl.2_RNA|TXNL4B_uc010vmn.1_Missense_Mutation_p.E23D|TXNL4B_uc010vmo.1_Missense_Mutation_p.E23D	p.E23D	NM_017853	NP_060323	Q9NX01	TXN4B_HUMAN			2	380	-			23					D3DWS6	Missense_Mutation	SNP	ENST00000268483.3	37	c.69G>T	CCDS10906.1	.	.	.	.	.	.	.	.	.	.	C	5.860	0.342929	0.11069	.	.	ENSG00000140830	ENST00000268483;ENST00000426362;ENST00000423037	.	.	.	5.66	1.55	0.23275	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	N	0.11000	0.08	0.58432	D	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.21621	-1.0240	9	0.02654	T	1	.	9.0099	0.36135	0.0:0.6939:0.0:0.3061	.	23	Q9NX01	TXN4B_HUMAN	D	23	.	ENSP00000268483:E23D	E	-	3	2	TXNL4B	70682081	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.513000	0.35823	0.738000	0.32606	0.655000	0.94253	GAG		0.393	TXNL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269007.2	NM_017853		21	55	1	0	1.50039e-11	0.012319	2.19885e-11	21	55				
OR3A1	4994	broad.mit.edu	37	17	3195311	3195311	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:3195311T>C	ENST00000323404.1	-	1	565	c.566A>G	c.(565-567)cAg>cGg	p.Q189R	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	189					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|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)	p.Q189R(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GCAGGAGAGCTGGAAGAGCTG	0.517																																					GBM(20;287 516 18743 28660 36594)	GBM(20;287 516 18743 28660 36594)	uc002fvh.1		NA																	1	Substitution - Missense(1)		lung(1)	kidney(2)|central_nervous_system(1)	3						c.(565-567)CAG>CGG		olfactory receptor, family 3, subfamily A,							127.0	121.0	123.0					17																	3195311		2203	4300	6503	SO:0001583	missense	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195311T>C	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.566A>G	17.37:g.3195311T>C	ENSP00000313803:p.Gln189Arg						p.Q189R	NM_002550	NP_002541	P47881	OR3A1_HUMAN			1	566	-			189			Extracellular (Potential).		Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	c.566A>G	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	T	11.57	1.676828	0.29783	.	.	ENSG00000180090	ENST00000323404	T	0.00091	8.74	5.01	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.348752	0.22233	N	0.062799	T	0.00109	0.0003	N	0.16567	0.415	0.26272	N	0.978407	B	0.09022	0.002	B	0.17979	0.02	T	0.06770	-1.0808	10	0.31617	T	0.26	-11.394	10.3085	0.43695	0.0:0.0:0.3177:0.6823	.	189	P47881	OR3A1_HUMAN	R	189	ENSP00000313803:Q189R	ENSP00000313803:Q189R	Q	-	2	0	OR3A1	3142061	0.000000	0.05858	1.000000	0.80357	0.946000	0.59487	0.008000	0.13197	1.003000	0.39130	0.528000	0.53228	CAG		0.517	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			31	64	0	0	0	0.003271	0	31	64				
FXR2	9513	broad.mit.edu	37	17	7495160	7495160	+	Missense_Mutation	SNP	A	A	T	rs200615727		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:7495160A>T	ENST00000250113.7	-	17	2344	c.2010T>A	c.(2008-2010)aaT>aaA	p.N670K	MPDU1_ENST00000423172.2_Intron|SOX15_ENST00000570788.1_5'Flank|SOX15_ENST00000538513.2_5'Flank|FXR2_ENST00000573057.1_5'UTR|SOX15_ENST00000250055.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	670						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N670K(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ATGAAACCCCATTCACCATAC	0.592																																							uc002gia.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2008-2010)AAT>AAA		fragile X mental retardation syndrome related							39.0	41.0	40.0					17																	7495160		1938	4124	6062	SO:0001583	missense	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495160A>T	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.2010T>A	17.37:g.7495160A>T	ENSP00000250113:p.Asn670Lys					MPDU1_uc010vuc.1_Intron|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	p.N670K	NM_004860	NP_004851	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	17	2237	-			670					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	c.2010T>A	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.638136	0.67130	.	.	ENSG00000129245	ENST00000250113	T	0.47869	0.83	5.68	2.27	0.28462	.	.	.	.	.	T	0.53302	0.1788	L	0.42245	1.32	0.45464	D	0.99843	D	0.57899	0.981	D	0.65140	0.932	T	0.51317	-0.8721	9	0.87932	D	0	-11.1098	6.8333	0.23923	0.7352:0.0:0.2648:0.0	.	670	P51116	FXR2_HUMAN	K	670	ENSP00000250113:N670K	ENSP00000250113:N670K	N	-	3	2	FXR2	7435884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.711000	0.25764	0.423000	0.26033	0.459000	0.35465	AAT		0.592	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			9	17	0	0	0	0.006214	0	9	17				
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:7577105G>T	ENST00000269305.4	-	8	1022	c.833C>A	c.(832-834)cCt>cAt	p.P278H	TP53_ENST00000420246.2_Missense_Mutation_p.P278H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P278H|TP53_ENST00000445888.2_Missense_Mutation_p.P278H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P278H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCTCTCCCAGGACAGGCACA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	p.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(17)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.P278fs*28(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM961376	TP53	M		c.(832-834)CCT>CAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							72.0	63.0	66.0					17																	7577105		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577105G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.833C>A	17.37:g.7577105G>T	ENSP00000269305:p.Pro278His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.P278H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146H|TP53_uc010cng.1_Missense_Mutation_p.P146H|TP53_uc002gii.1_Missense_Mutation_p.P146H|TP53_uc010cnh.1_Missense_Mutation_p.P278H|TP53_uc010cni.1_Missense_Mutation_p.P278H|TP53_uc002gij.2_Missense_Mutation_p.P278H	p.P278H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1027	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	278		P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.833C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532212	0.85812	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99887	-7.53;-7.53;-7.53;-7.53;-7.53;-7.53	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96442	0.9327	10	0.87932	D	0	-13.7877	11.4227	0.49991	0.0873:0.0:0.9127:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	278;278;278;278;278;267;146	ENSP00000352610:P278H;ENSP00000269305:P278H;ENSP00000398846:P278H;ENSP00000391127:P278H;ENSP00000391478:P278H;ENSP00000425104:P146H	ENSP00000269305:P278H	P	-	2	0	TP53	7517830	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.573000	0.98181	1.392000	0.46585	0.462000	0.41574	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	16	1	0	2.27111e-07	0.001368	2.83889e-07	11	16				
TP53	7157	broad.mit.edu	37	17	7577138	7577138	+	Missense_Mutation	SNP	C	C	A	rs587780075		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:7577138C>A	ENST00000269305.4	-	8	989	c.800G>T	c.(799-801)cGg>cTg	p.R267L	TP53_ENST00000420246.2_Missense_Mutation_p.R267L|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R267L|TP53_ENST00000445888.2_Missense_Mutation_p.R267L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R267L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). {ECO:0000269|PubMed:16959974}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAAGCTGTTCCGTCCCAGTAG	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		59	Substitution - Missense(33)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.R267W(20)|p.R267P(13)|p.0?(7)|p.R267Q(7)|p.R267R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.R267fs*78(1)|p.N268fs*77(1)|p.L265_K305del41(1)|p.R267G(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.R267L(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(14)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(6)|urinary_tract(5)|ovary(5)|breast(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|stomach(2)|oesophagus(2)|liver(2)|eye(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM921040	TP53	M		c.(799-801)CGG>CTG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577138C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.800G>T	17.37:g.7577138C>A	ENSP00000269305:p.Arg267Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R267L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R135L|TP53_uc010cng.1_Missense_Mutation_p.R135L|TP53_uc002gii.1_Missense_Mutation_p.R135L|TP53_uc010cnh.1_Missense_Mutation_p.R267L|TP53_uc010cni.1_Missense_Mutation_p.R267L|TP53_uc002gij.2_Missense_Mutation_p.R267L	p.R267L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	994	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	267		R -> H (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.800G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167246	0.78339	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.13	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058834	0.64402	D	0.000001	D	0.99834	0.9925	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.995	D;D;D;D	0.77004	0.953;0.985;0.989;0.98	D	0.97835	1.0265	10	0.87932	D	0	-8.7531	8.8334	0.35098	0.0:0.7658:0.1508:0.0834	.	267;267;267;267	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	L	267;267;267;267;267;256;135	ENSP00000352610:R267L;ENSP00000269305:R267L;ENSP00000398846:R267L;ENSP00000391127:R267L;ENSP00000391478:R267L;ENSP00000425104:R135L	ENSP00000269305:R267L	R	-	2	0	TP53	7517863	1.000000	0.71417	0.489000	0.27452	0.858000	0.48976	7.587000	0.82613	0.725000	0.32318	0.462000	0.41574	CGG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		3	18	1	0	0.004672	0.004672	0.00486269	3	18				
PIK3R6	146850	broad.mit.edu	37	17	8731976	8731976	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:8731976C>A	ENST00000311434.9	-	11	1460	c.1221G>T	c.(1219-1221)ctG>ctT	p.L407L	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	407					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.L488L(1)									ACACGCCGGGCAGCATTTCCC	0.697																																							uc002glq.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1219-1221)CTG>CTT		phosphoinositide-3-kinase, regulatory subunit 6							14.0	17.0	16.0					17																	8731976		1936	4105	6041	SO:0001819	synonymous_variant	146850				platelet activation	cytosol		g.chr17:8731976C>A	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1221G>T	17.37:g.8731976C>A						PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	p.L407L	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN			11	1461	-			407					Q658R3	Silent	SNP	ENST00000311434.9	37	c.1221G>T																																																																																					0.697	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		6	11	1	0	3.59834e-05	0.001168	4.04218e-05	6	11				
PIK3R5	23533	broad.mit.edu	37	17	8785177	8785177	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:8785177G>A	ENST00000447110.1	-	16	2351	c.2227C>T	c.(2227-2229)Cgc>Tgc	p.R743C	PIK3R5_ENST00000581552.1_Missense_Mutation_p.R743C|PIK3R5_ENST00000584803.1_Missense_Mutation_p.R742C	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	743	Interaction with beta-gamma G protein dimers. {ECO:0000250}.				blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)	p.R743C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TTGCTCCAGCGACTTCGTCCA	0.612																																					NSCLC(18;589 615 7696 20311 50332)	NSCLC(18;589 615 7696 20311 50332)	uc002glt.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(2227-2229)CGC>TGC		phosphoinositide-3-kinase, regulatory subunit 5							94.0	85.0	88.0					17																	8785177		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8785177G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2227C>T	17.37:g.8785177G>A	ENSP00000392812:p.Arg743Cys					PIK3R5_uc010vuz.1_Missense_Mutation_p.R743C|PIK3R5_uc002glu.3_Missense_Mutation_p.R357C	p.R743C	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			16	2294	-			743			Interaction with G beta gamma proteins (By similarity).		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.2227C>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323054	0.41096	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.81330	-1.48	4.64	4.64	0.57946	.	0.251233	0.41712	D	0.000822	D	0.82783	0.5112	L	0.29908	0.895	0.54753	D	0.999981	D	0.76494	0.999	P	0.60609	0.877	D	0.85563	0.1229	10	0.87932	D	0	-23.0893	17.277	0.87119	0.0:0.0:1.0:0.0	.	743	Q8WYR1	PI3R5_HUMAN	C	743	ENSP00000392812:R743C	ENSP00000269300:R743C	R	-	1	0	PIK3R5	8725902	1.000000	0.71417	0.977000	0.42913	0.842000	0.47809	5.419000	0.66435	2.414000	0.81942	0.462000	0.41574	CGC		0.612	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		8	12	0	0	0	0.00308	0	8	12				
PIK3R5	23533	broad.mit.edu	37	17	8792128	8792128	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:8792128C>G	ENST00000447110.1	-	10	1100	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	PIK3R5_ENST00000581552.1_Missense_Mutation_p.E326Q|PIK3R5_ENST00000584803.1_Missense_Mutation_p.E326Q	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	326				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)	p.E326Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						tcctcctcctcctcttcctcc	0.577																																					NSCLC(18;589 615 7696 20311 50332)	NSCLC(18;589 615 7696 20311 50332)	uc002glt.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(976-978)GAG>CAG		phosphoinositide-3-kinase, regulatory subunit 5							79.0	79.0	79.0					17																	8792128		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8792128C>G	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.976G>C	17.37:g.8792128C>G	ENSP00000392812:p.Glu326Gln					PIK3R5_uc010vuz.1_Missense_Mutation_p.E326Q|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Missense_Mutation_p.R274S|PIK3R5_uc010cob.1_5'UTR	p.E326Q	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			10	1043	-			326	DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.976G>C	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	C	8.142	0.785455	0.16189	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.79554	-1.28	5.28	5.28	0.74379	.	0.387684	0.25903	N	0.027555	T	0.67411	0.2890	N	0.19112	0.55	0.29271	N	0.870656	P	0.48998	0.918	B	0.39771	0.309	T	0.63479	-0.6628	10	0.17369	T	0.5	-10.9695	16.4497	0.83976	0.0:1.0:0.0:0.0	.	326	Q8WYR1	PI3R5_HUMAN	Q	326	ENSP00000392812:E326Q	ENSP00000269300:E326Q	E	-	1	0	PIK3R5	8732853	0.444000	0.25649	0.989000	0.46669	0.179000	0.23085	3.360000	0.52299	2.485000	0.83878	0.552000	0.68991	GAG		0.577	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		10	19	0	0	0	0.006214	0	10	19				
GAS7	8522	broad.mit.edu	37	17	9850262	9850262	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:9850262C>A	ENST00000432992.2	-	6	724	c.564G>T	c.(562-564)ccG>ccT	p.P188P	GAS7_ENST00000540214.1_Intron|GAS7_ENST00000585266.1_Silent_p.P128P|GAS7_ENST00000542249.1_Silent_p.P124P|GAS7_ENST00000323816.4_Silent_p.P128P|GAS7_ENST00000580865.1_Silent_p.P48P|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000583882.1_Silent_p.P48P|GAS7_ENST00000579158.1_Silent_p.P124P|GAS7_ENST00000437099.2_Silent_p.P124P	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	188					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P188P(2)|p.P48P(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GCTGCTGTTCCGGCATCGTGT	0.572			T	MLL	AML*																																		uc002gmg.1		NA		Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		4	Substitution - coding silent(4)		lung(4)	lung(1)|pancreas(1)	2						c.(562-564)CCG>CCT		growth arrest-specific 7 isoform c							107.0	72.0	84.0					17																	9850262		2203	4300	6503	SO:0001819	synonymous_variant	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9850262C>A	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.564G>T	17.37:g.9850262C>A						GAS7_uc010vvc.1_Silent_p.P2P|GAS7_uc002gmh.1_Silent_p.P48P|GAS7_uc010vvd.1_Silent_p.P140P|GAS7_uc002gmi.2_Silent_p.P124P|GAS7_uc002gmj.1_Silent_p.P128P|GAS7_uc010coh.1_Silent_p.P128P	p.P188P	NM_201433	NP_958839	O60861	GAS7_HUMAN			6	725	-			188					A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	ENST00000432992.2	37	c.564G>T	CCDS11152.1																																																																																				0.572	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		10	29	1	0	6.40141e-05	0.010729	7.09722e-05	10	29				
MYH1	4619	broad.mit.edu	37	17	10399302	10399302	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:10399302C>T	ENST00000226207.5	-	35	5228	c.5134G>A	c.(5134-5136)Gat>Aat	p.D1712N	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1712					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D1712N(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCACTGGCATCCAGGAGCTCC	0.517																																							uc002gmo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(5134-5136)GAT>AAT		myosin, heavy chain 1, skeletal muscle, adult							93.0	84.0	87.0					17																	10399302		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399302C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5134G>A	17.37:g.10399302C>T	ENSP00000226207:p.Asp1712Asn					uc002gml.1_Intron	p.D1712N	NM_005963	NP_005954	P12882	MYH1_HUMAN			35	5228	-			1712			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5134G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987103	0.93106	.	.	ENSG00000109061	ENST00000226207	T	0.80304	-1.36	5.53	5.53	0.82687	Myosin tail (1);	0.000000	0.44483	U	0.000445	D	0.91573	0.7338	M	0.92367	3.3	0.58432	D	0.999999	D	0.53745	0.962	P	0.59424	0.857	D	0.92989	0.6413	10	0.87932	D	0	.	19.8241	0.96610	0.0:1.0:0.0:0.0	.	1712	P12882	MYH1_HUMAN	N	1712	ENSP00000226207:D1712N	ENSP00000226207:D1712N	D	-	1	0	MYH1	10340027	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.641000	0.83368	2.758000	0.94735	0.655000	0.94253	GAT		0.517	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		31	43	0	0	0	0.009535	0	31	43				
MYH3	4621	broad.mit.edu	37	17	10544690	10544690	+	Splice_Site	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:10544690C>A	ENST00000583535.1	-	18	2047		c.e18-1		MYH3_ENST00000226209.7_Splice_Site	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.?(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCAGGTTTTCCTAAGAGAAAA	0.333																																							uc002gmq.1		NA																	1	Unknown(1)		lung(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.e17-1		myosin, heavy chain 3, skeletal muscle,							72.0	80.0	77.0					17																	10544690		2203	4300	6503	SO:0001630	splice_region_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10544690C>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1960-1G>T	17.37:g.10544690C>A							p.E654_splice	NM_002470	NP_002461	P11055	MYH3_HUMAN			17	2037	-								Q15492	Splice_Site	SNP	ENST00000583535.1	37	c.1960_splice	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284064	0.80803	.	.	ENSG00000109063	ENST00000226209	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4375	0.99097	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH3	10485415	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.776000	0.85560	2.906000	0.99361	0.655000	0.94253	.		0.333	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	Intron	30	65	1	0	1.80694e-10	0.009535	2.49065e-10	30	65				
LLGL1	3996	broad.mit.edu	37	17	18145251	18145251	+	Silent	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:18145251G>C	ENST00000316843.4	+	19	2916	c.2820G>C	c.(2818-2820)cgG>cgC	p.R940R		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	940					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)	p.R940R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TAAGTGCCCGGAACATCACAG	0.572																																							uc002gsp.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6						c.(2818-2820)CGG>CGC		lethal giant larvae homolog 1							92.0	91.0	92.0					17																	18145251		2203	4300	6503	SO:0001819	synonymous_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18145251G>C		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2820G>C	17.37:g.18145251G>C							p.R940R	NM_004140	NP_004131	Q15334	L2GL1_HUMAN			19	2881	+	all_neural(463;0.228)		940					A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	c.2820G>C	CCDS32586.1																																																																																				0.572	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			7	88	0	0	0	0.001984	0	7	88				
KCNJ12	3768	broad.mit.edu	37	17	21319603	21319603	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:21319603C>A	ENST00000583088.1	+	3	1844	c.949C>A	c.(949-951)Ctg>Atg	p.L317M	KCNJ12_ENST00000331718.5_Missense_Mutation_p.L317M	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	317					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.L317M(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CAGCTCCTACCTGGCCAATGA	0.582										Prostate(3;0.18)																													uc002gyv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(949-951)CTG>ATG		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						120.0	121.0	121.0					17																	21319603		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319603C>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.949C>A	17.37:g.21319603C>A	ENSP00000463778:p.Leu317Met	Prostate(3;0.18)					p.L317M	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1654	+			317			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.949C>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692654	0.48202	.	.	ENSG00000184185	ENST00000331718	D	0.95137	-3.62	5.44	5.44	0.79542	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.64402	D	0.000001	D	0.95971	0.8688	M	0.85041	2.73	0.48341	D	0.999634	D	0.55172	0.97	P	0.54544	0.755	D	0.95302	0.8404	10	0.48119	T	0.1	.	9.872	0.41180	0.0:0.8484:0.0:0.1516	.	317	Q14500	IRK12_HUMAN	M	317	ENSP00000328150:L317M	ENSP00000328150:L317M	L	+	1	2	KCNJ12	21260196	0.996000	0.38824	1.000000	0.80357	0.907000	0.53573	0.497000	0.22514	2.561000	0.86390	0.561000	0.74099	CTG		0.582	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		7	110	1	0	0.000157383	0.00308	0.000170778	7	110				
ERAL1	26284	broad.mit.edu	37	17	27182086	27182086	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:27182086G>A	ENST00000254928.5	+	1	131	c.34G>A	c.(34-36)Gtt>Att	p.V12I	ERAL1_ENST00000578001.1_3'UTR|FAM222B_ENST00000583953.1_5'Flank	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	12					ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.V12I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GGCTAGGCTTGTTCAATCGGT	0.612																																							uc002hcy.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(34-36)GTT>ATT		Era-like 1							48.0	44.0	45.0					17																	27182086		2203	4300	6503	SO:0001583	missense	26284				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	g.chr17:27182086G>A	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.34G>A	17.37:g.27182086G>A	ENSP00000254928:p.Val12Ile					ERAL1_uc002hcx.1_Missense_Mutation_p.V12I|ERAL1_uc002hcz.1_RNA|ERAL1_uc002hda.1_5'Flank|ERAL1_uc002hdb.1_5'Flank	p.V12I	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)		1	44	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		12					B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	ENST00000254928.5	37	c.34G>A	CCDS11244.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825833	0.32237	.	.	ENSG00000132591	ENST00000254928	.	.	.	4.92	-1.03	0.10102	.	0.692184	0.13014	N	0.420622	T	0.30198	0.0757	L	0.36672	1.1	0.09310	N	1	B;B	0.28291	0.075;0.206	B;B	0.31101	0.016;0.124	T	0.26608	-1.0098	9	0.59425	D	0.04	-0.2599	7.3317	0.26586	0.0:0.3757:0.2607:0.3636	.	12;12	O75616;O75616-2	ERAL1_HUMAN;.	I	12	.	ENSP00000254928:V12I	V	+	1	0	ERAL1	24206212	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-1.466000	0.02355	-0.215000	0.10063	0.561000	0.74099	GTT		0.612	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			12	33	0	0	0	0.001368	0	12	33				
UNC45B	146862	broad.mit.edu	37	17	33497247	33497247	+	Silent	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:33497247C>G	ENST00000268876.5	+	12	1759	c.1662C>G	c.(1660-1662)gcC>gcG	p.A554A	UNC45B_ENST00000433649.1_Silent_p.A554A|UNC45B_ENST00000378449.1_Intron|UNC45B_ENST00000591048.1_Intron|UNC45B_ENST00000394570.2_Silent_p.A554A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	554					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.A554A(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ACGTCCCTGCCCTGCAGGCCA	0.627																																							uc002hja.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|breast(1)	6						c.(1660-1662)GCC>GCG		cardiomyopathy associated 4 isoform 1							49.0	40.0	43.0					17																	33497247		2203	4300	6503	SO:0001819	synonymous_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33497247C>G	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1662C>G	17.37:g.33497247C>G						UNC45B_uc002hjb.2_Silent_p.A554A|UNC45B_uc002hjc.2_Silent_p.A554A|UNC45B_uc010cto.2_Intron	p.A554A	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			12	1759	+		Ovarian(249;0.17)	554					Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	c.1662C>G	CCDS11292.1																																																																																				0.627	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		7	27	0	0	0	0.00308	0	7	27				
ACACA	31	broad.mit.edu	37	17	35578665	35578665	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:35578665C>A	ENST00000394406.2	-	29	3742	c.3552G>T	c.(3550-3552)ctG>ctT	p.L1184L	ACACA_ENST00000335166.5_Silent_p.L1106L|ACACA_ENST00000360679.3_Silent_p.L1126L|ACACA_ENST00000353139.5_Silent_p.L1221L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1184					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.L1221L(1)|p.L1126L(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAGATGTGGGCAGCATGAACT	0.473																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(3550-3552)CTG>CTT		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						195.0	139.0	158.0					17																	35578665		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35578665C>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3552G>T	17.37:g.35578665C>A						ACACA_uc002hnk.2_Silent_p.L1106L|ACACA_uc002hnl.2_Silent_p.L1126L|ACACA_uc002hnn.2_Silent_p.L1184L|ACACA_uc002hno.2_Silent_p.L1221L|ACACA_uc010cuz.2_Silent_p.L1184L	p.L1184L	NM_198836	NP_942133	Q13085	ACACA_HUMAN			29	3743	-		Breast(25;0.00157)|Ovarian(249;0.15)	1184					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.3552G>T	CCDS11317.1																																																																																				0.473	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		12	46	1	0	6.40141e-05	0.010729	7.09722e-05	12	46				
KRTAP4-11	653240	broad.mit.edu	37	17	39274174	39274174	+	Missense_Mutation	SNP	G	G	T	rs527265426	byFrequency	TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:39274174G>T	ENST00000391413.2	-	1	432	c.394C>A	c.(394-396)Ccc>Acc	p.P132T		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	132	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.P132T(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			cagcaggtgggctggcagcac	0.667																																							uc002hvz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(394-396)CCC>ACC		keratin associated protein 4-11							7.0	12.0	11.0					17																	39274174		673	1578	2251	SO:0001583	missense	653240					keratin filament		g.chr17:39274174G>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.394C>A	17.37:g.39274174G>T	ENSP00000375232:p.Pro132Thr						p.P132T	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	433	-		Breast(137;0.000496)	132			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].|22.		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.394C>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	17.90	3.502039	0.64298	.	.	ENSG00000212721	ENST00000391413	T	0.01725	4.67	4.58	2.45	0.29901	.	0.000000	0.33792	U	0.004559	T	0.03520	0.0101	L	0.51914	1.62	0.23150	N	0.998216	P	0.48640	0.913	P	0.52109	0.69	T	0.35525	-0.9785	10	0.49607	T	0.09	.	6.0034	0.19533	0.3035:0.0:0.6965:0.0	.	132	Q9BYQ6	KR411_HUMAN	T	132	ENSP00000375232:P132T	ENSP00000375232:P132T	P	-	1	0	KRTAP4-11	36527700	0.001000	0.12720	0.156000	0.22583	0.956000	0.61745	-0.474000	0.06607	0.235000	0.21160	0.514000	0.50259	CCC		0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			10	21	1	0	1.08611e-07	0.010729	1.38479e-07	10	21				
KRT34	3885	broad.mit.edu	37	17	39538481	39538481	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:39538481G>T	ENST00000394001.1	-	1	174	c.144C>A	c.(142-144)tgC>tgA	p.C48*		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	48	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.C48*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GGCTGGGCAGGCAACAACTGT	0.632																																							uc002hwm.2		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(142-144)TGC>TGA		keratin 34							64.0	58.0	60.0					17																	39538481		2203	4300	6503	SO:0001587	stop_gained	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39538481G>T	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.144C>A	17.37:g.39538481G>T	ENSP00000377570:p.Cys48*						p.C48*	NM_021013	NP_066293	O76011	KRT34_HUMAN			1	156	-		Breast(137;0.000496)	48			Head.		Q8IUT8|Q8N4W2	Nonsense_Mutation	SNP	ENST00000394001.1	37	c.144C>A	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	g	12.36	1.913938	0.33815	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.87	-0.704	0.11256	.	0.660603	0.15478	N	0.260224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9267	0.41496	0.4189:0.0:0.5811:0.0	.	.	.	.	X	6;48	.	ENSP00000251648:C48X	C	-	3	2	KRT34	36792007	0.009000	0.17119	0.250000	0.24296	0.095000	0.18619	-0.111000	0.10807	-0.084000	0.12595	-0.253000	0.11424	TGC		0.632	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		18	77	1	0	6.49762e-13	0.006122	9.86246e-13	18	77				
SDK2	54549	broad.mit.edu	37	17	71391459	71391459	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr17:71391459C>A	ENST00000392650.3	-	25	3427	c.3427G>T	c.(3427-3429)Ggg>Tgg	p.G1143W	SDK2_ENST00000388726.3_Missense_Mutation_p.G1143W	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1143	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.G1143W(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TTGCCATGCCCGTCTGACCGG	0.617																																							uc010dfm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3427-3429)GGG>TGG		sidekick 2							90.0	74.0	79.0					17																	71391459		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71391459C>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3427G>T	17.37:g.71391459C>A	ENSP00000376421:p.Gly1143Trp					SDK2_uc002jjt.3_Missense_Mutation_p.G302W|SDK2_uc010dfn.2_Missense_Mutation_p.G822W	p.G1143W	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			25	3427	-			1143			Extracellular (Potential).|Fibronectin type-III 6.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.3427G>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905451	0.33628	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.60171	0.21;0.21;0.21	5.32	4.35	0.52113	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.269247	0.37483	N	0.002062	T	0.71970	0.3403	M	0.79926	2.475	0.27641	N	0.947725	D;D;D	0.60575	0.988;0.976;0.971	P;P;P	0.61070	0.883;0.856;0.775	T	0.67825	-0.5570	10	0.87932	D	0	.	10.4832	0.44706	0.0:0.8506:0.0:0.1494	.	1143;1143;1143	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	W	767;1143;1143;319;1143	ENSP00000376421:G1143W;ENSP00000373378:G1143W;ENSP00000407098:G319W	ENSP00000324967:G1143W	G	-	1	0	SDK2	68903054	0.024000	0.19004	0.951000	0.38953	0.051000	0.14879	0.802000	0.27069	1.244000	0.43870	0.561000	0.74099	GGG		0.617	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		10	29	1	0	1.76689e-08	0.006214	2.32246e-08	10	29				
ZNF397	84307	broad.mit.edu	37	18	32823239	32823239	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr18:32823239T>C	ENST00000330501.7	+	3	691	c.538T>C	c.(538-540)Tgc>Cgc	p.C180R	ZNF397_ENST00000585800.1_Missense_Mutation_p.C180R|ZNF397_ENST00000592264.1_Missense_Mutation_p.C180R|ZNF397_ENST00000591206.1_Missense_Mutation_p.C180R|ZNF397_ENST00000589420.1_3'UTR|ZNF397_ENST00000355632.4_Missense_Mutation_p.C180R|ZNF397_ENST00000261333.6_Missense_Mutation_p.C180R	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	180					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C180R(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						CTGGAAACCATGCCTTTCCCC	0.443																																							uc010dmp.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(538-540)TGC>CGC		zinc finger protein 397 isoform 1							118.0	112.0	114.0					18																	32823239		2203	4300	6503	SO:0001583	missense	84307				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32823239T>C	BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.538T>C	18.37:g.32823239T>C	ENSP00000331577:p.Cys180Arg					ZNF397_uc002kyi.2_Missense_Mutation_p.C180R|ZNF397_uc010dmq.2_Missense_Mutation_p.C180R|ZNF397_uc010dmr.2_RNA|ZNF397_uc002kyj.2_Missense_Mutation_p.C180R|ZNF397_uc002kyk.1_Missense_Mutation_p.C180R	p.C180R	NM_001135178	NP_001128650	Q8NF99	ZN397_HUMAN			3	694	+			180					Q9BRM2	Missense_Mutation	SNP	ENST00000330501.7	37	c.538T>C	CCDS45852.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.548721	0.27652	.	.	ENSG00000186812	ENST00000261333;ENST00000330501;ENST00000355632	T;T;T	0.06218	4.38;3.33;4.34	4.93	1.22	0.21188	.	0.000000	0.34580	U	0.003852	T	0.09862	0.0242	L	0.38175	1.15	0.39894	D	0.973805	D;P;D;D	0.65815	0.995;0.937;0.981;0.981	D;B;P;P	0.75484	0.986;0.243;0.813;0.743	T	0.48364	-0.9042	10	0.16896	T	0.51	.	2.9243	0.05779	0.1828:0.1964:0.0:0.6208	.	180;180;180;180	Q96K65;Q8NF99;Q8NF99-2;Q8NF99-3	.;ZN397_HUMAN;.;.	R	180	ENSP00000261333:C180R;ENSP00000331577:C180R;ENSP00000347850:C180R	ENSP00000261333:C180R	C	+	1	0	ZNF397	31077237	0.037000	0.19845	0.242000	0.24170	0.877000	0.50540	0.513000	0.22770	0.394000	0.25230	0.477000	0.44152	TGC		0.443	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442398.1	NM_032347		23	68	0	0	0	0.00333	0	23	68				
PIGN	23556	broad.mit.edu	37	18	59828461	59828461	+	Silent	SNP	T	T	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr18:59828461T>A	ENST00000357637.5	-	4	541	c.126A>T	c.(124-126)ccA>ccT	p.P42P	PIGN_ENST00000400334.3_Silent_p.P42P|PIGN_ENST00000593225.1_5'Flank	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	42					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.P42P(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ATCTTCTCGCTGGAGGAGGCA	0.403																																							uc002lii.3		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(124-126)CCA>CCT		phosphatidylinositol glycan anchor biosynthesis,							117.0	109.0	111.0					18																	59828461		1984	4174	6158	SO:0001819	synonymous_variant	23556				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	g.chr18:59828461T>A	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.126A>T	18.37:g.59828461T>A						PIGN_uc002lij.3_Silent_p.P42P	p.P42P	NM_176787	NP_789744	O95427	PIGN_HUMAN			4	574	-		Colorectal(73;0.187)	42			Lumenal (Potential).		Q7L8F8|Q8TC01|Q9NT05	Silent	SNP	ENST00000357637.5	37	c.126A>T	CCDS45879.1																																																																																				0.403	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		9	28	0	0	0	0.006214	0	9	28				
STK11	6794	broad.mit.edu	37	19	1220699	1220699	+	Missense_Mutation	SNP	G	G	T	rs137853082		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:1220699G>T	ENST00000326873.7	+	5	1890	c.717G>T	c.(715-717)tgG>tgT	p.W239C		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		W -> C (in PJS; late onset suggests reduced penetrance). {ECO:0000269|PubMed:12372054}.		activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(2)|p.W239C(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACATCTGGTCGGCTGGGG	0.701		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		23	Whole gene deletion(20)|Unknown(2)|Substitution - Missense(1)	p.0?(19)|p.?(2)	cervix(14)|lung(5)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266	GRCh37	CM022255	STK11	M	rs137853082	c.(715-717)TGG>TGT		serine/threonine protein kinase 11							22.0	28.0	26.0					19																	1220699		1994	4141	6135	SO:0001583	missense	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1220699G>T	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.717G>T	19.37:g.1220699G>T	ENSP00000324856:p.Trp239Cys	TSP Lung(3;<1E-08)					p.W239C	NM_000455	NP_000446	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1832	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	239		W -> C (in PJS; late onset suggests reduced penetrance).	Protein kinase.		B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	c.717G>T	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725361	0.89298	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.90788	-2.73	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97794	0.9276	H	0.99507	4.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99441	1.0938	10	0.87932	D	0	-33.8631	18.5988	0.91240	0.0:0.0:1.0:0.0	.	239	Q15831	STK11_HUMAN	C	239	ENSP00000324856:W239C	ENSP00000324856:W239C	W	+	3	0	STK11	1171699	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.729000	0.98795	2.644000	0.89710	0.561000	0.74099	TGG		0.701	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		9	9	1	0	0.000673444	0.008291	0.000712565	9	9				
OR1M1	125963	broad.mit.edu	37	19	9204166	9204166	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:9204166G>T	ENST00000429566.3	+	1	312	c.246G>T	c.(244-246)ctG>ctT	p.L82L		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L82L(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTAAGATGCTGGTGAGCCTTC	0.527																																							uc010xkj.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(244-246)CTG>CTT		olfactory receptor, family 1, subfamily M,							96.0	68.0	78.0					19																	9204166		2203	4300	6503	SO:0001819	synonymous_variant	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204166G>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.246G>T	19.37:g.9204166G>T							p.L82L	NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN			1	246	+			82			Extracellular (Potential).		B9EHA6|Q6IFJ3|Q96R91	Silent	SNP	ENST00000429566.3	37	c.246G>T	CCDS32896.1																																																																																				0.527	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			18	28	1	0	0.000958276	0.007413	0.00100975	18	28				
CYP4F8	11283	broad.mit.edu	37	19	15733988	15733988	+	RNA	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:15733988C>A	ENST00000441682.2	+	0	782							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R240R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCAGTTCTTCCGGTACAAGGA	0.552																																							uc002nbi.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(721-723)CGG>AGG		cytochrome P450, family 4, subfamily F,							64.0	67.0	66.0					19																	15733988		2203	4300	6503			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15733988C>A	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15733988C>A						CYP4F8_uc010xoj.1_Silent_p.R53R	p.R241R	NM_007253	NP_009184	P98187	CP4F8_HUMAN			9	785	+			241						Silent	SNP	ENST00000441682.2	37	c.721C>A																																																																																					0.552	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		16	29	1	0	1.3612e-06	0.003163	1.6608e-06	16	29				
PIK3R2	5296	broad.mit.edu	37	19	18272854	18272854	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:18272854G>T	ENST00000593731.1	+	7	1454	c.894G>T	c.(892-894)gcG>gcT	p.A298A	PIK3R2_ENST00000222254.8_Silent_p.A298A			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	298					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)	p.A298A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	AGGAGGTTGCGCCCCCAGGTG	0.607																																							uc002nia.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						c.(892-894)GCG>GCT		phosphoinositide-3-kinase, regulatory subunit 2							98.0	103.0	101.0					19																	18272854		2203	4300	6503	SO:0001819	synonymous_variant	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18272854G>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.894G>T	19.37:g.18272854G>T						PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	p.A298A	NM_005027	NP_005018	O00459	P85B_HUMAN			7	1406	+			298					Q5EAT5|Q9UPH9	Silent	SNP	ENST00000593731.1	37	c.894G>T	CCDS12371.1																																																																																				0.607	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		11	25	1	0	1.08611e-07	0.010729	1.38479e-07	11	25				
ZNF737	100129842	broad.mit.edu	37	19	20727575	20727575	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:20727575C>A	ENST00000427401.4	-	4	1528	c.1434G>T	c.(1432-1434)gaG>gaT	p.E478D		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E477D(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGTAGGGTTTCTCTCCAGTAT	0.413																																							uc002npa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1432-1434)GAG>GAT		zinc finger protein 737							69.0	73.0	72.0					19																	20727575		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20727575C>A	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1434G>T	19.37:g.20727575C>A	ENSP00000395733:p.Glu478Asp						p.E478D	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			4	1614	-			478					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.1434G>T	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	N	11.59	1.684917	0.29872	.	.	ENSG00000237440	ENST00000427401	T	0.26810	1.71	0.867	0.867	0.19085	.	.	.	.	.	T	0.18341	0.0440	N	0.21583	0.68	0.26264	N	0.978522	B	0.21905	0.062	B	0.31547	0.132	T	0.33599	-0.9862	9	0.62326	D	0.03	.	7.1276	0.25482	0.0:1.0:0.0:0.0	.	478	C9JHM3	.	D	478	ENSP00000395733:E478D	ENSP00000395733:E478D	E	-	3	2	ZNF737	20519415	0.127000	0.22367	0.254000	0.24359	0.256000	0.26092	0.329000	0.19698	0.284000	0.22305	0.289000	0.19496	GAG		0.413	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		16	35	1	0	1.99824e-07	0.00499	2.5101e-07	16	35				
ZNF492	57615	broad.mit.edu	37	19	22847646	22847646	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:22847646C>A	ENST00000456783.2	+	4	1419	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P392H(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GGAGAGAAGCCCTACAAATGT	0.383																																							uc002nqw.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1174-1176)CCC>CAC		zinc finger protein 492							31.0	33.0	32.0					19																	22847646		2081	4220	6301	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847646C>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1175C>A	19.37:g.22847646C>A	ENSP00000413660:p.Pro392His						p.P392H	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			4	1419	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	392					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1175C>A	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	7.923	0.739062	0.15642	.	.	ENSG00000229676	ENST00000456783	T	0.17528	2.27	1.12	1.12	0.20585	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45915	0.1366	M	0.92507	3.315	0.23056	N	0.998363	D	0.89917	1.0	D	0.77557	0.99	T	0.21415	-1.0246	9	0.72032	D	0.01	.	7.4251	0.27094	0.0:1.0:0.0:0.0	.	392	Q9P255	ZN492_HUMAN	H	392	ENSP00000413660:P392H	ENSP00000413660:P392H	P	+	2	0	ZNF492	22639486	0.064000	0.20934	0.211000	0.23655	0.213000	0.24496	0.761000	0.26489	0.269000	0.21961	0.274000	0.19336	CCC		0.383	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		8	41	1	0	3.86212e-05	0.008291	4.31948e-05	8	41				
ZNF536	9745	broad.mit.edu	37	19	30936032	30936032	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:30936032C>A	ENST00000355537.3	+	2	1710	c.1563C>A	c.(1561-1563)taC>taA	p.Y521*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	521					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.Y521*(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGAACAGCTACCAGGCTTGGC	0.607																																							uc002nsu.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1561-1563)TAC>TAA		zinc finger protein 536							46.0	52.0	50.0					19																	30936032		2203	4298	6501	SO:0001587	stop_gained	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936032C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1563C>A	19.37:g.30936032C>A	ENSP00000347730:p.Tyr521*					ZNF536_uc010edd.1_Nonsense_Mutation_p.Y521*	p.Y521*	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1701	+	Esophageal squamous(110;0.0834)		521					A2RU18	Nonsense_Mutation	SNP	ENST00000355537.3	37	c.1563C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	37	6.289092	0.97444	.	.	ENSG00000198597	ENST00000355537	.	.	.	5.53	1.98	0.26296	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-37.043	5.4623	0.16624	0.0:0.3842:0.0:0.6158	.	.	.	.	X	521	.	ENSP00000347730:Y521X	Y	+	3	2	ZNF536	35627872	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.532000	0.23067	0.660000	0.30964	0.655000	0.94253	TAC		0.607	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		18	77	1	0	1.87028e-06	0.012319	2.24963e-06	18	77				
ZNF223	7766	broad.mit.edu	37	19	44564659	44564659	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:44564659G>T	ENST00000434772.3	+	3	322	c.67G>T	c.(67-69)Ggg>Tgg	p.G23W	ZNF223_ENST00000585552.1_Missense_Mutation_p.G23W|ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000591793.1_Missense_Mutation_p.G133W	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G23W(2)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GGAGGAGCTGGGGCTGCTGGA	0.517																																							uc002oyf.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(67-69)GGG>TGG		zinc finger protein 223							243.0	217.0	226.0					19																	44564659		2203	4300	6503	SO:0001583	missense	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44564659G>T	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.67G>T	19.37:g.44564659G>T	ENSP00000401947:p.Gly23Trp					ZNF284_uc010ejd.2_RNA	p.G23W	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN			3	320	+		Prostate(69;0.0352)	23			KRAB.		Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	ENST00000434772.3	37	c.67G>T	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769449	0.49680	.	.	ENSG00000178386	ENST00000434772	T	0.02067	4.47	2.37	1.11	0.20524	Krueppel-associated box (4);	.	.	.	.	T	0.10508	0.0257	M	0.80332	2.49	0.27013	N	0.96465	D	0.76494	0.999	D	0.67900	0.954	T	0.03898	-1.0994	9	0.66056	D	0.02	.	10.0829	0.42401	0.0:0.2077:0.7923:0.0	.	23	Q9UK11	ZN223_HUMAN	W	23	ENSP00000401947:G23W	ENSP00000401947:G23W	G	+	1	0	ZNF223	49256499	0.876000	0.30132	1.000000	0.80357	0.897000	0.52465	1.550000	0.36223	1.301000	0.44836	0.305000	0.20034	GGG		0.517	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			37	100	1	0	6.5261e-18	0.00874	1.15566e-17	37	100				
ZNF285	26974	broad.mit.edu	37	19	44891421	44891421	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:44891421G>A	ENST00000330997.4	-	4	1050	c.986C>T	c.(985-987)tCt>tTt	p.S329F	ZNF285_ENST00000591679.1_Missense_Mutation_p.S336F|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.S329F	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S329F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GTGAAGGGAAGAGCTGCGCCT	0.478																																							uc002ozd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(985-987)TCT>TTT		zinc finger protein 285							95.0	96.0	95.0					19																	44891421		2203	4300	6503	SO:0001583	missense	26974				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44891421G>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.986C>T	19.37:g.44891421G>A	ENSP00000333595:p.Ser329Phe					ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.S336F	p.S329F	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN			4	1073	-			329			C2H2-type 3.		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.986C>T	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240131	0.58995	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.18657	2.2	3.5	3.5	0.40072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52403	0.1732	M	0.88570	2.965	0.09310	N	1	D;D	0.76494	0.999;0.998	P;D	0.80764	0.907;0.994	T	0.48536	-0.9027	9	0.87932	D	0	.	14.2191	0.65812	0.0:0.0:1.0:0.0	.	353;329	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	F	352;329	ENSP00000333595:S329F	ENSP00000333595:S329F	S	-	2	0	ZNF285	49583261	0.000000	0.05858	0.002000	0.10522	0.578000	0.36192	-0.487000	0.06505	1.671000	0.50874	0.454000	0.30748	TCT		0.478	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		25	52	0	0	0	0.00632	0	25	52				
ZNF665	79788	broad.mit.edu	37	19	53668353	53668353	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:53668353C>G	ENST00000600412.1	-	2	1310	c.1195G>C	c.(1195-1197)Ggt>Cgt	p.G399R	ZNF665_ENST00000396424.3_Missense_Mutation_p.G464R|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G464R(1)|p.G399R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AAGACCTTACCGCAGTCATTA	0.438																																							uc010eqm.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1390-1392)GGT>CGT		zinc finger protein 665							80.0	83.0	82.0					19																	53668353		2203	4300	6503	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668353C>G		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1195G>C	19.37:g.53668353C>G	ENSP00000469154:p.Gly399Arg						p.G464R	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	1490	-			399			C2H2-type 11.		A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.1390G>C		.	.	.	.	.	.	.	.	.	.	C	13.48	2.251196	0.39797	.	.	ENSG00000197497	ENST00000396424	T	0.07444	3.19	2.55	-3.07	0.05363	.	.	.	.	.	T	0.21550	0.0519	M	0.79123	2.44	0.09310	N	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.07597	-1.0764	9	0.72032	D	0.01	.	3.9537	0.09380	0.1629:0.5189:0.0:0.3183	.	464	Q9H7R5-2	.	R	464	ENSP00000379702:G464R	ENSP00000379702:G464R	G	-	1	0	ZNF665	58360165	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.908000	0.28545	-0.780000	0.04553	-0.324000	0.08512	GGT		0.438	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		26	89	0	0	0	0.00333	0	26	89				
BIRC8	112401	broad.mit.edu	37	19	53793228	53793228	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:53793228C>A	ENST00000426466.1	-	1	1647	c.400G>T	c.(400-402)Gaa>Taa	p.E134*		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	134					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.E134*(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TGAATTCTTTCCTCCATTATT	0.368																																							uc002qbk.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(400-402)GAA>TAA		baculoviral IAP repeat-containing 8							146.0	147.0	147.0					19																	53793228		2203	4300	6503	SO:0001587	stop_gained	112401				apoptosis		zinc ion binding	g.chr19:53793228C>A	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.400G>T	19.37:g.53793228C>A	ENSP00000412957:p.Glu134*						p.E134*	NM_033341	NP_203127	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1648	-			134					Q6IPY1|Q96RW5	Nonsense_Mutation	SNP	ENST00000426466.1	37	c.400G>T	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	C	44	10.716815	0.99455	.	.	ENSG00000163098	ENST00000426466	.	.	.	0.502	0.502	0.16932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-7.2108	4.3473	0.11139	1.0E-4:0.5653:0.4346:0.0	.	.	.	.	X	134	.	ENSP00000412957:E134X	E	-	1	0	BIRC8	58485040	0.010000	0.17322	0.685000	0.30070	0.265000	0.26407	-0.339000	0.07832	0.578000	0.29487	0.420000	0.28162	GAA		0.368	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		34	117	1	0	4.11147e-13	0.003755	6.278e-13	34	117				
ZBTB45	84878	broad.mit.edu	37	19	59028554	59028554	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:59028554C>A	ENST00000594051.1	-	2	967	c.487G>T	c.(487-489)Ggg>Tgg	p.G163W	ZBTB45_ENST00000600990.1_Missense_Mutation_p.G163W|ZBTB45_ENST00000354590.3_Missense_Mutation_p.G163W			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	163	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G163W(1)		breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CCGGGGTGCCCCGGGGGACGT	0.736											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	NSCLC(164;1383 2017 5233 27540 46677)	uc002qtd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(487-489)GGG>TGG		zinc finger and BTB domain containing 45							15.0	19.0	18.0					19																	59028554		2150	4204	6354	SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028554C>A	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.487G>T	19.37:g.59028554C>A	ENSP00000469089:p.Gly163Trp		OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_uc002qte.2_Missense_Mutation_p.G163W|ZBTB45_uc002qtf.2_Missense_Mutation_p.G163W	p.G163W	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	779	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	163			Pro-rich.			Missense_Mutation	SNP	ENST00000594051.1	37	c.487G>T	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	c	9.643	1.139477	0.21205	.	.	ENSG00000119574	ENST00000354590	T	0.10192	2.9	3.24	3.24	0.37175	.	0.083035	0.46758	D	0.000263	T	0.16557	0.0398	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	D	0.65443	0.935	T	0.02877	-1.1099	10	0.72032	D	0.01	.	12.7314	0.57201	0.0:1.0:0.0:0.0	.	163	Q96K62	ZBT45_HUMAN	W	163	ENSP00000346603:G163W	ENSP00000346603:G163W	G	-	1	0	ZBTB45	63720366	0.000000	0.05858	0.118000	0.21660	0.046000	0.14306	0.039000	0.13884	2.129000	0.65627	0.467000	0.42956	GGG		0.736	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		16	34	1	0	4.14922e-12	0.004007	6.18743e-12	16	34				
PXDN	7837	broad.mit.edu	37	2	1680744	1680744	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:1680744C>G	ENST00000252804.4	-	8	853	c.803G>C	c.(802-804)aGa>aCa	p.R268T	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	268	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R268T(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCCTTCGGCTCTGCAGGTGAA	0.562																																							uc002qxa.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(802-804)AGA>ACA		peroxidasin precursor							65.0	73.0	70.0					2																	1680744		2012	4181	6193	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1680744C>G	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.803G>C	2.37:g.1680744C>G	ENSP00000252804:p.Arg268Thr					PXDN_uc002qxb.1_Missense_Mutation_p.R268T|PXDN_uc002qxc.1_Missense_Mutation_p.R85T	p.R268T	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	8	867	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	268			Ig-like C2-type 1.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.803G>C	CCDS46221.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.43|17.43|17.43	3.387406|3.387406|3.387406	0.61956|0.61956|0.61956	.|.|.	.|.|.	ENSG00000130508|ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000447941|ENST00000252804	.|.|T	.|.|0.64991	.|.|-0.13	4.77|4.77|4.77	2.94|2.94|2.94	0.34122|0.34122|0.34122	.|.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.|0.115257	.|.|0.56097	.|.|D	.|.|0.000021	T|T|T	0.48409|0.48409|0.48409	0.1498|0.1498|0.1498	N|N|N	0.17379|0.17379|0.17379	0.485|0.485|0.485	0.36783|0.36783|0.36783	D|D|D	0.884437|0.884437|0.884437	.|.|B;B	.|.|0.27700	.|.|0.079;0.186	.|.|B;B	.|.|0.36186	.|.|0.124;0.219	T|T|T	0.57093|0.57093|0.57093	-0.7870|-0.7870|-0.7870	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-15.5344|-15.5344|-15.5344	10.2134|10.2134|10.2134	0.43154|0.43154|0.43154	0.0:0.8374:0.0:0.1626|0.0:0.8374:0.0:0.1626|0.0:0.8374:0.0:0.1626	.|.|.	.|.|268;268	.|.|Q92626-2;Q92626	.|.|.;PXDN_HUMAN	Q|H|T	264|191|268	.|.|ENSP00000252804:R268T	.|.|ENSP00000252804:R268T	E|Q|R	-|-|-	1|3|2	0|2|0	PXDN|PXDN|PXDN	1659751|1659751|1659751	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.010000|0.010000|0.010000	0.14722|0.14722|0.14722	0.640000|0.640000|0.640000	0.38277|0.38277|0.38277	4.001000|4.001000|4.001000	0.57046|0.57046|0.57046	1.005000|1.005000|1.005000	0.39183|0.39183|0.39183	0.449000|0.449000|0.449000	0.29647|0.29647|0.29647	GAG|CAG|AGA		0.562	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		11	13	0	0	0	0.008291	0	11	13				
APOB	338	broad.mit.edu	37	2	21257763	21257763	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:21257763C>T	ENST00000233242.1	-	8	956	c.829G>A	c.(829-831)Ggg>Agg	p.G277R	APOB_ENST00000399256.4_Missense_Mutation_p.G277R	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	277	Heparin-binding.|Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				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)	p.G277R(1)		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)					GCTACCATCCCATACTTATTC	0.448																																							uc002red.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(829-831)GGG>AGG		apolipoprotein B precursor	Atorvastatin(DB01076)						249.0	210.0	223.0					2																	21257763		2203	4300	6503	SO:0001583	missense	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.chr2:21257763C>T	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.829G>A	2.37:g.21257763C>T	ENSP00000233242:p.Gly277Arg						p.G277R	NM_000384	NP_000375	P04114	APOB_HUMAN			8	957	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		277			Vitellogenin.|Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.829G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805651	0.70682	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.40756	1.02;1.02	5.08	4.21	0.49690	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.095453	0.45606	N	0.000342	T	0.53850	0.1822	M	0.68317	2.08	0.54753	D	0.999986	D	0.53462	0.96	P	0.52710	0.707	T	0.61153	-0.7120	10	0.87932	D	0	.	14.3155	0.66446	0.0:0.9269:0.0:0.0731	.	277	P04114	APOB_HUMAN	R	277	ENSP00000233242:G277R;ENSP00000382200:G277R	ENSP00000233242:G277R	G	-	1	0	APOB	21111268	1.000000	0.71417	0.998000	0.56505	0.550000	0.35303	7.193000	0.77780	1.468000	0.48064	0.655000	0.94253	GGG		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			36	172	0	0	0	0.00623	0	36	172				
FSHR	2492	broad.mit.edu	37	2	49190832	49190832	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:49190832G>T	ENST00000406846.2	-	10	1247	c.1128C>A	c.(1126-1128)gcC>gcA	p.A376A	FSHR_ENST00000541117.1_Silent_p.A112A|FSHR_ENST00000346173.3_Silent_p.A314A|FSHR_ENST00000304421.4_Silent_p.A350A	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	376					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.A376A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCCCAGTGATGGCCAGGATGC	0.478									Gonadal Dysgenesis, 46 XX																														uc002rww.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(1126-1128)GCC>GCA		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						183.0	165.0	171.0					2																	49190832		2203	4300	6503	SO:0001819	synonymous_variant	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190832G>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1128C>A	2.37:g.49190832G>T						FSHR_uc002rwx.2_Silent_p.A314A|FSHR_uc010fbn.2_Silent_p.A350A	p.A376A	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1202	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	376			Helical; Name=1; (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	c.1128C>A	CCDS1843.1																																																																																				0.478	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			20	47	1	0	3.99206e-14	0.007413	6.20716e-14	20	47				
WBP1	23559	broad.mit.edu	37	2	74687010	74687010	+	Silent	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:74687010G>C	ENST00000233615.2	+	3	457	c.183G>C	c.(181-183)ctG>ctC	p.L61L	WBP1_ENST00000393972.3_Silent_p.L95L|MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000409737.1_Silent_p.L58L|WBP1_ENST00000494741.1_3'UTR	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	61							WW domain binding (GO:0050699)	p.L61L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GGTTCTGGCTGCTCTGGACTG	0.572																																							uc002slj.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(181-183)CTG>CTC		WW domain binding protein 1							62.0	56.0	58.0					2																	74687010		2203	4300	6503	SO:0001819	synonymous_variant	23559						WW domain binding	g.chr2:74687010G>C	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.183G>C	2.37:g.74687010G>C						WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|WBP1_uc002slk.1_Silent_p.L58L|WBP1_uc002sll.1_RNA	p.L61L	NM_012477	NP_036609	Q96G27	WBP1_HUMAN			3	336	+			61					B2RE02|O95637	Silent	SNP	ENST00000233615.2	37	c.183G>C	CCDS1943.1																																																																																				0.572	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		20	36	0	0	0	0.012319	0	20	36				
INSIG2	51141	broad.mit.edu	37	2	118854157	118854157	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:118854157C>T	ENST00000245787.4	+	2	231	c.25C>T	c.(25-27)Cct>Tct	p.P9S	INSIG2_ENST00000485520.1_Intron	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	9					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)		p.P9S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GACAGAGTCACCTGGGCCCAA	0.418																																							uc002tlk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(25-27)CCT>TCT		insulin induced protein 2							108.0	103.0	105.0					2																	118854157		2203	4300	6503	SO:0001583	missense	51141				ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		g.chr2:118854157C>T	AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.25C>T	2.37:g.118854157C>T	ENSP00000245787:p.Pro9Ser					INSIG2_uc010yye.1_Intron	p.P9S	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN			2	231	+			9					A8K5W8|Q8TBI8	Missense_Mutation	SNP	ENST00000245787.4	37	c.25C>T	CCDS2122.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.234457	0.22626	.	.	ENSG00000125629	ENST00000245787	.	.	.	5.41	2.46	0.29980	.	0.556916	0.20194	N	0.097241	T	0.16428	0.0395	N	0.08118	0	0.30721	N	0.748231	B	0.02656	0.0	B	0.01281	0.0	T	0.14062	-1.0486	9	0.12103	T	0.63	.	3.044	0.06147	0.1883:0.4663:0.0:0.3455	.	9	Q9Y5U4	INSI2_HUMAN	S	9	.	ENSP00000245787:P9S	P	+	1	0	INSIG2	118570627	0.997000	0.39634	0.999000	0.59377	0.869000	0.49853	0.557000	0.23454	0.864000	0.35578	0.655000	0.94253	CCT		0.418	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129624.1	NM_016133		23	59	0	0	0	0.002299	0	23	59				
UGGT1	56886	broad.mit.edu	37	2	128913089	128913089	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:128913089A>G	ENST00000259253.6	+	20	2211	c.2164A>G	c.(2164-2166)Aga>Gga	p.R722G	UGGT1_ENST00000375990.3_Missense_Mutation_p.R698G	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	722					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.R722G(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGATTATGCTAGATTTACTAT	0.343																																							uc002tps.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2164-2166)AGA>GGA		UDP-glucose ceramide glucosyltransferase-like 1							112.0	111.0	112.0					2																	128913089		2203	4298	6501	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128913089A>G	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2164A>G	2.37:g.128913089A>G	ENSP00000259253:p.Arg722Gly					UGGT1_uc010fme.1_Missense_Mutation_p.R597G|UGGT1_uc002tpr.2_Missense_Mutation_p.R698G	p.R722G	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			20	2342	+			722					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.2164A>G	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	10.32	1.317974	0.23994	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.29655	1.56;1.56	5.26	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.25717	0.0626	L	0.46157	1.445	0.54753	D	0.999989	B;P	0.38745	0.002;0.645	B;B	0.35114	0.005;0.196	T	0.01858	-1.1259	9	.	.	.	.	13.6358	0.62221	0.4782:0.5218:0.0:0.0	.	698;722	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	G	698;722	ENSP00000365158:R698G;ENSP00000259253:R722G	.	R	+	1	2	UGGT1	128629559	1.000000	0.71417	0.998000	0.56505	0.854000	0.48673	3.441000	0.52893	0.297000	0.22615	0.254000	0.18369	AGA		0.343	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		15	53	0	0	0	0.00245	0	15	53				
KCNH7	90134	broad.mit.edu	37	2	163256864	163256864	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:163256864C>A	ENST00000332142.5	-	10	2341	c.2242G>T	c.(2242-2244)Ggg>Tgg	p.G748W		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	748					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.G748W(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTACTTGCCCCCCGAAAGGCT	0.483																																					GBM(196;1492 2208 17507 24132 45496)	GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(2242-2244)GGG>TGG		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						131.0	134.0	133.0					2																	163256864		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163256864C>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2242G>T	2.37:g.163256864C>A	ENSP00000331727:p.Gly748Trp						p.G748W	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			10	2454	-			748			Cytoplasmic (Potential).|cNMP.		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2242G>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498798	0.85069	.	.	ENSG00000184611	ENST00000332142	D	0.97066	-4.23	5.47	5.47	0.80525	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98216	0.9410	M	0.72479	2.2	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	D	0.99087	1.0839	10	0.72032	D	0.01	.	19.333	0.94299	0.0:1.0:0.0:0.0	.	748	Q9NS40	KCNH7_HUMAN	W	748	ENSP00000331727:G748W	ENSP00000331727:G748W	G	-	1	0	KCNH7	162965110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.807000	0.86032	2.571000	0.86741	0.591000	0.81541	GGG		0.483	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		23	70	1	0	9.95505e-16	0.002299	1.59656e-15	23	70				
DNAH7	56171	broad.mit.edu	37	2	196750942	196750942	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:196750942C>A	ENST00000312428.6	-	34	5561	c.5461G>T	c.(5461-5463)Gac>Tac	p.D1821Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1821					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.D1821Y(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATAAAACAGTCTATTAGATTC	0.348																																							uc002utj.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(5461-5463)GAC>TAC		dynein, axonemal, heavy chain 7							121.0	117.0	119.0					2																	196750942		1823	4084	5907	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196750942C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5461G>T	2.37:g.196750942C>A	ENSP00000311273:p.Asp1821Tyr						p.D1821Y	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			34	5562	-			1821					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.5461G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423456	0.62733	.	.	ENSG00000118997	ENST00000312428	D	0.92595	-3.07	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.97155	0.9070	H	0.94385	3.53	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	D	0.98296	1.0516	10	0.72032	D	0.01	.	17.8593	0.88776	0.0:1.0:0.0:0.0	.	1821	Q8WXX0	DYH7_HUMAN	Y	1821	ENSP00000311273:D1821Y	ENSP00000311273:D1821Y	D	-	1	0	DNAH7	196459187	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.944000	0.75940	2.377000	0.81083	0.557000	0.71058	GAC		0.348	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		14	50	1	0	2.61681e-11	0.00245	3.81307e-11	14	50				
ANKRD44	91526	broad.mit.edu	37	2	197964625	197964625	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:197964625C>A	ENST00000328737.2	-	10	1016	c.940G>T	c.(940-942)Ggc>Tgc	p.G314C	ANKRD44_ENST00000282272.8_Missense_Mutation_p.G331C|ANKRD44_ENST00000450567.1_Missense_Mutation_p.G314C|ANKRD44_ENST00000409919.1_Missense_Mutation_p.G339C|ANKRD44_ENST00000337207.5_Missense_Mutation_p.G314C|ANKRD44_ENST00000409153.1_Missense_Mutation_p.G339C|ANKRD44_ENST00000539527.1_Missense_Mutation_p.G267C			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	339								p.G339C(4)|p.G136C(2)|p.G314C(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGAGTGTTGCCGTCCTTATCC	0.443																																							uc002uuc.2		NA																	8	Substitution - Missense(8)		lung(8)	ovary(4)|skin(1)	5						c.(1015-1017)GGC>TGC		ankyrin repeat domain 44							152.0	138.0	143.0					2																	197964625		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197964625C>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.940G>T	2.37:g.197964625C>A	ENSP00000331516:p.Gly314Cys					ANKRD44_uc002utz.3_Missense_Mutation_p.G28C|ANKRD44_uc002uua.1_Missense_Mutation_p.G314C|ANKRD44_uc002uub.2_Missense_Mutation_p.G339C|ANKRD44_uc010zgw.1_Missense_Mutation_p.G267C	p.G339C	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		10	1182	-			339			ANK 11.		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.1015G>T		.	.	.	.	.	.	.	.	.	.	C	26.3	4.724269	0.89298	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527;ENST00000409919	T;D;T;T;T;T;D;T;T	0.86366	1.59;-2.11;-0.83;-0.83;1.59;-0.83;-2.11;-0.83;1.46	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.95239	0.8456	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.96513	0.9380	10	0.87932	D	0	.	17.6819	0.88246	0.0:1.0:0.0:0.0	.	267;339;339	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	C	136;331;314;314;314;37;339;267;339	ENSP00000403415:G136C;ENSP00000282272:G331C;ENSP00000331516:G314C;ENSP00000402420:G314C;ENSP00000338794:G314C;ENSP00000416319:G37C;ENSP00000387141:G339C;ENSP00000437825:G267C;ENSP00000387233:G339C	ENSP00000282272:G331C	G	-	1	0	ANKRD44	197672870	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.651000	0.83577	2.419000	0.82065	0.491000	0.48974	GGC		0.443	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		17	53	1	0	3.32936e-07	0.006122	4.1414e-07	17	53				
DOCK10	55619	broad.mit.edu	37	2	225739438	225739438	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:225739438C>A	ENST00000258390.7	-	9	1029	c.962G>T	c.(961-963)tGc>tTc	p.C321F	DOCK10_ENST00000409592.3_Missense_Mutation_p.C315F	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	321					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C321F(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTCTGGCGTGCATTCACAAGT	0.363																																							uc010fwz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(961-963)TGC>TTC		dedicator of cytokinesis 10							154.0	146.0	149.0					2																	225739438		1878	4108	5986	SO:0001583	missense	55619						GTP binding	g.chr2:225739438C>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.962G>T	2.37:g.225739438C>A	ENSP00000258390:p.Cys321Phe					DOCK10_uc002vob.2_Missense_Mutation_p.C315F|DOCK10_uc002vod.1_Missense_Mutation_p.C321F	p.C321F	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	9	1201	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	321					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.962G>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	9.232	1.035966	0.19590	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.02916	4.11;4.11	5.4	5.4	0.78164	.	0.413619	0.29396	N	0.012278	T	0.10035	0.0246	M	0.62723	1.935	0.45046	D	0.998065	B;D;B	0.63880	0.138;0.993;0.138	B;P;B	0.57776	0.027;0.827;0.027	T	0.38243	-0.9670	10	0.18710	T	0.47	.	17.3477	0.87314	0.0:1.0:0.0:0.0	.	321;321;315	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	F	315;321	ENSP00000386694:C315F;ENSP00000258390:C321F	ENSP00000258390:C321F	C	-	2	0	DOCK10	225447682	1.000000	0.71417	0.974000	0.42286	0.173000	0.22820	2.306000	0.43673	2.546000	0.85860	0.557000	0.71058	TGC		0.363	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			24	74	1	0	3.6726e-16	0.003954	6.00329e-16	24	74				
NRSN2	80023	broad.mit.edu	37	20	333933	333933	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:333933T>C	ENST00000382291.3	+	4	509	c.269T>C	c.(268-270)cTg>cCg	p.L90P	NRSN2_ENST00000382285.2_Missense_Mutation_p.L90P|NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000608736.1_Intron	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	90						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)		p.L90P(1)		endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				CCCCCCAAGCTGGAGGGCATC	0.647																																							uc002wdi.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(268-270)CTG>CCG		neurensin 2							93.0	87.0	89.0					20																	333933		2203	4300	6503	SO:0001583	missense	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333933T>C	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.269T>C	20.37:g.333933T>C	ENSP00000371728:p.Leu90Pro					NRSN2_uc002wdj.2_RNA|NRSN2_uc002wdl.2_Intron	p.L90P	NM_024958	NP_079234	Q9GZP1	NRSN2_HUMAN			4	807	+		all_cancers(10;0.0834)	90					A8K3B2|Q6FII5|Q9NUD3	Missense_Mutation	SNP	ENST00000382291.3	37	c.269T>C	CCDS12996.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.586754	0.66105	.	.	ENSG00000125841	ENST00000382291;ENST00000382285	T;T	0.18016	2.24;2.24	4.76	4.76	0.60689	.	0.172727	0.40728	N	0.001024	T	0.30916	0.0780	L	0.47716	1.5	0.54753	D	0.999988	D	0.69078	0.997	D	0.65874	0.939	T	0.02385	-1.1167	10	0.72032	D	0.01	-6.4912	10.5953	0.45333	0.0:0.0:0.0:1.0	.	90	Q9GZP1	NRSN2_HUMAN	P	90	ENSP00000371728:L90P;ENSP00000371722:L90P	ENSP00000371722:L90P	L	+	2	0	NRSN2	281933	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.430000	0.59907	2.012000	0.59069	0.523000	0.50628	CTG		0.647	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		31	86	0	0	0	0.010818	0	31	86				
ANGPT4	51378	broad.mit.edu	37	20	853683	853683	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:853683C>A	ENST00000381922.3	-	9	1534	c.1432G>T	c.(1432-1434)Ggc>Tgc	p.G478C	ANGPT4_ENST00000546022.1_3'UTR	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	478	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.G478C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAGCGGATGCCGTCCATCTTG	0.582																																					Pancreas(181;481 2077 3259 31286 49856)	Pancreas(181;481 2077 3259 31286 49856)	uc002wei.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1432-1434)GGC>TGC		angiopoietin 4 precursor							119.0	106.0	110.0					20																	853683		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:853683C>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1432G>T	20.37:g.853683C>A	ENSP00000371347:p.Gly478Cys					ANGPT4_uc010zpn.1_3'UTR	p.G478C	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			9	1535	-			478			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.1432G>T	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156770	0.78114	.	.	ENSG00000101280	ENST00000381922	D	0.88509	-2.39	4.4	4.4	0.53042	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.64402	D	0.000001	D	0.96383	0.8820	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97884	1.0293	10	0.87932	D	0	.	16.1288	0.81412	0.0:1.0:0.0:0.0	.	478	Q9Y264	ANGP4_HUMAN	C	478	ENSP00000371347:G478C	ENSP00000371347:G478C	G	-	1	0	ANGPT4	801683	1.000000	0.71417	0.937000	0.37676	0.671000	0.39405	5.816000	0.69222	2.277000	0.76020	0.491000	0.48974	GGC		0.582	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		13	30	1	0	4.3838e-07	0.001855	5.40033e-07	13	30				
PRND	23627	broad.mit.edu	37	20	4705533	4705533	+	Silent	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:4705533C>T	ENST00000305817.2	+	2	407	c.336C>T	c.(334-336)acC>acT	p.T112T		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	112	Globular.				protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T112T(1)		breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						TCAATGCCACCCAGGCGGCGA	0.602																																							uc002wkz.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(334-336)ACC>ACT		prion-like protein doppel preproprotein							55.0	56.0	56.0					20																	4705533		2203	4300	6503	SO:0001819	synonymous_variant	23627				protein homooligomerization	anchored to membrane|plasma membrane		g.chr20:4705533C>T	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"""prion-like protein doppel"""	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.336C>T	20.37:g.4705533C>T							p.T112T	NM_012409	NP_036541	Q9UKY0	PRND_HUMAN			2	407	+			112			Globular.		A7U7M5|Q9H311|Q9H312|Q9NTM4	Silent	SNP	ENST00000305817.2	37	c.336C>T	CCDS13081.1																																																																																				0.602	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	NM_012409		12	41	0	0	0	0.010729	0	12	41				
SNAP25	6616	broad.mit.edu	37	20	10277675	10277675	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:10277675C>A	ENST00000254976.2	+	6	595	c.384C>A	c.(382-384)gcC>gcA	p.A128A	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000495883.1_3'UTR|SNAP25_ENST00000304886.2_Silent_p.A128A|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	128					energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)	p.A128A(2)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	AGCAGATGGCCATCAGTGGCG	0.498																																							uc002wnq.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(382-384)GCC>GCA		synaptosomal-associated protein 25 isoform	Botulinum Toxin Type A(DB00083)						68.0	64.0	66.0					20																	10277675		2203	4300	6503	SO:0001819	synonymous_variant	6616				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		g.chr20:10277675C>A		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.384C>A	20.37:g.10277675C>A						SNAP25_uc002wnr.1_Silent_p.A128A|SNAP25_uc002wns.1_Silent_p.A65A|SNAP25_uc010gca.1_Silent_p.A128A|SNAP25_uc010gcb.1_Silent_p.A65A|SNAP25_uc010gcc.1_Intron	p.A128A	NM_130811	NP_570824	P60880	SNP25_HUMAN			6	596	+			128					B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Silent	SNP	ENST00000254976.2	37	c.384C>A	CCDS13110.1																																																																																				0.498	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077976.3	NM_130811		9	42	1	0	3.07112e-06	0.010729	3.64249e-06	9	42				
MYLK2	85366	broad.mit.edu	37	20	30408290	30408290	+	Silent	SNP	A	A	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:30408290A>T	ENST00000375994.2	+	2	687	c.414A>T	c.(412-414)gcA>gcT	p.A138A	MYLK2_ENST00000375985.4_Silent_p.A138A			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	138					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.A138A(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCCAAGCAGCAGCCAGGAGGG	0.627																																							uc002wwq.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6						c.(412-414)GCA>GCT		skeletal myosin light chain kinase							40.0	41.0	41.0					20																	30408290		2202	4300	6502	SO:0001819	synonymous_variant	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30408290A>T	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.414A>T	20.37:g.30408290A>T							p.A138A	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	516	+			138					Q569L1|Q96I84	Silent	SNP	ENST00000375994.2	37	c.414A>T	CCDS13191.1																																																																																				0.627	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		16	29	0	0	0	0.004007	0	16	29				
XKR7	343702	broad.mit.edu	37	20	30584986	30584986	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:30584986C>A	ENST00000562532.2	+	3	1640	c.1466C>A	c.(1465-1467)gCg>gAg	p.A489E		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	489						integral component of membrane (GO:0016021)		p.A489E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGGGCCTCGGCGGGAGAGCGT	0.701																																							uc002wxe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1465-1467)GCG>GAG		XK, Kell blood group complex subunit-related							28.0	31.0	30.0					20																	30584986		2203	4298	6501	SO:0001583	missense	343702					integral to membrane		g.chr20:30584986C>A	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1466C>A	20.37:g.30584986C>A	ENSP00000477059:p.Ala489Glu						p.A489E	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1640	+			489					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.1466C>A	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	C	0.876	-0.730508	0.03135	.	.	ENSG00000101321	ENST00000217299	.	.	.	4.0	1.96	0.26148	.	0.621938	0.16792	N	0.199344	T	0.27798	0.0684	N	0.19112	0.55	0.09310	N	1	B	0.26935	0.164	B	0.27887	0.084	T	0.24621	-1.0155	9	0.59425	D	0.04	9.2813	10.345	0.43901	0.0:0.399:0.601:0.0	.	489	Q5GH72	XKR7_HUMAN	E	489	.	ENSP00000217299:A489E	A	+	2	0	XKR7	30048647	0.298000	0.24417	0.194000	0.23346	0.008000	0.06430	1.386000	0.34419	0.614000	0.30107	-0.270000	0.10280	GCG		0.701	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		29	16	1	0	1.13719e-10	0.008361	1.576e-10	29	16				
EMILIN3	90187	broad.mit.edu	37	20	39989924	39989924	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:39989924G>T	ENST00000332312.3	-	4	2477	c.2285C>A	c.(2284-2286)cCa>cAa	p.P762Q		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	762						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.P762Q(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GGCTTGCCCTGGCCGCACCTG	0.647																																							uc002xjy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2284-2286)CCA>CAA		elastin microfibril interfacer 3							30.0	31.0	31.0					20																	39989924		2202	4300	6502	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39989924G>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.2285C>A	20.37:g.39989924G>T	ENSP00000332806:p.Pro762Gln						p.P762Q	NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN			4	2509	-		Myeloproliferative disorder(115;0.00425)	762					Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.2285C>A	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	G	2.590	-0.295494	0.05532	.	.	ENSG00000183798	ENST00000332312	T	0.14266	2.52	4.5	2.46	0.29980	.	0.622969	0.14315	N	0.327454	T	0.06917	0.0176	N	0.19112	0.55	0.09310	N	1	B	0.20780	0.048	B	0.16289	0.015	T	0.37430	-0.9706	9	.	.	.	-0.1869	2.9377	0.05819	0.3817:0.0:0.4241:0.1942	.	762	Q9NT22	EMIL3_HUMAN	Q	762	ENSP00000332806:P762Q	.	P	-	2	0	EMILIN3	39423338	0.994000	0.37717	0.007000	0.13788	0.162000	0.22319	1.634000	0.37123	0.566000	0.29273	0.491000	0.48974	CCA		0.647	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		7	9	1	0	0.00198382	0.001984	0.00207325	7	9				
R3HDML	140902	broad.mit.edu	37	20	42965887	42965887	+	Silent	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:42965887C>G	ENST00000217043.2	+	1	262	c.90C>G	c.(88-90)acC>acG	p.T30T		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	30						extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)	p.T30T(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CTAATGCTACCCCAGCCCCGG	0.652																																							uc002xls.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(88-90)ACC>ACG		R3H domain containing-like precursor							44.0	44.0	44.0					20																	42965887		2203	4299	6502	SO:0001819	synonymous_variant	140902					extracellular region	peptidase inhibitor activity	g.chr20:42965887C>G	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing-like"""				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.90C>G	20.37:g.42965887C>G							p.T30T	NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	262	+		Myeloproliferative disorder(115;0.028)	30						Silent	SNP	ENST00000217043.2	37	c.90C>G	CCDS13329.1																																																																																				0.652	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		27	20	0	0	0	0.007291	0	27	20				
PPP1R3D	5509	broad.mit.edu	37	20	58514537	58514537	+	Silent	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:58514537G>A	ENST00000370996.3	-	1	815	c.450C>T	c.(448-450)ttC>ttT	p.F150F	FAM217B_ENST00000358293.3_Intron|FAM217B_ENST00000360816.3_5'Flank	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	150					dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)	p.F150F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			AATGCAGGGTGAACTCCAGGT	0.672																																							uc002ybb.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(448-450)TTC>TTT		protein phosphatase 1, regulatory subunit 3D							21.0	24.0	23.0					20																	58514537		2190	4270	6460	SO:0001819	synonymous_variant	5509				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	g.chr20:58514537G>A	Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.450C>T	20.37:g.58514537G>A						C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	p.F150F	NM_006242	NP_006233	O95685	PPR3D_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.12e-09)		1	816	-	all_lung(29;0.00391)		150					Q6DK02	Silent	SNP	ENST00000370996.3	37	c.450C>T	CCDS13483.1																																																																																				0.672	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	NM_006242		8	22	0	0	0	0.00308	0	8	22				
DIDO1	11083	broad.mit.edu	37	20	61511339	61511339	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr20:61511339C>T	ENST00000266070.4	-	16	6294	c.5969G>A	c.(5968-5970)gGt>gAt	p.G1990D	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1990D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1990	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G1990D(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCGTAGTCCACCAAACTGCAG	0.597																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(5968-5970)GGT>GAT		death inducer-obliterator 1 isoform c							105.0	126.0	119.0					20																	61511339		2202	4299	6501	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511339C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5969G>A	20.37:g.61511339C>T	ENSP00000266070:p.Gly1990Asp					DIDO1_uc002yds.1_Missense_Mutation_p.G1990D	p.G1990D	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	6233	-	Breast(26;5.68e-08)		1990			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.5969G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075999	0.36662	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09723	2.95;2.95	4.37	1.14	0.20703	.	0.378437	0.18629	N	0.135625	T	0.12987	0.0315	L	0.55481	1.735	0.80722	D	1	D	0.54047	0.964	P	0.45449	0.481	T	0.04522	-1.0945	10	0.59425	D	0.04	-7.3074	9.7206	0.40300	0.0:0.6595:0.2653:0.0752	.	1990	Q9BTC0	DIDO1_HUMAN	D	1990	ENSP00000266070:G1990D;ENSP00000378752:G1990D	ENSP00000266070:G1990D	G	-	2	0	DIDO1	60981784	1.000000	0.71417	0.000000	0.03702	0.037000	0.13140	3.205000	0.51090	0.144000	0.18951	0.561000	0.74099	GGT		0.597	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		71	152	0	0	0	0.00361	0	71	152				
PKNOX1	5316	broad.mit.edu	37	21	44438272	44438272	+	Missense_Mutation	SNP	G	G	T	rs377090331		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr21:44438272G>T	ENST00000291547.5	+	7	863	c.652G>T	c.(652-654)Gtc>Ttc	p.V218F	PKNOX1_ENST00000432907.2_Missense_Mutation_p.V101F	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	218					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V218F(1)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						TGTCACGGTCGTCACTCCCCA	0.468																																							uc002zcq.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(652-654)GTC>TTC		PBX/knotted 1 homeobox 1							107.0	90.0	96.0					21																	44438272		2203	4300	6503	SO:0001583	missense	5316						sequence-specific DNA binding	g.chr21:44438272G>T		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.652G>T	21.37:g.44438272G>T	ENSP00000291547:p.Val218Phe					PKNOX1_uc002zcp.1_Missense_Mutation_p.V218F|PKNOX1_uc011aex.1_Missense_Mutation_p.V101F	p.V218F	NM_004571	NP_004562	P55347	PKNX1_HUMAN			7	840	+			218					O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	c.652G>T	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319695	0.81469	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	D;D	0.87729	-2.01;-2.29	4.74	4.74	0.60224	.	0.064589	0.64402	D	0.000008	D	0.92456	0.7605	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.87578	0.998;0.905	D	0.92902	0.6340	10	0.56958	D	0.05	-33.2841	18.0853	0.89455	0.0:0.0:1.0:0.0	.	218;218	P55347;P55347-2	PKNX1_HUMAN;.	F	218;101	ENSP00000291547:V218F;ENSP00000402243:V101F	ENSP00000291547:V218F	V	+	1	0	PKNOX1	43311341	1.000000	0.71417	0.922000	0.36590	0.385000	0.30292	8.918000	0.92759	2.329000	0.79093	0.561000	0.74099	GTC		0.468	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			13	30	1	0	2.98522e-18	0.003163	5.36078e-18	13	30				
KRTAP10-9	386676	broad.mit.edu	37	21	46047872	46047872	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr21:46047872T>A	ENST00000397911.3	+	1	833	c.784T>A	c.(784-786)Tgc>Agc	p.C262S	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	262						keratin filament (GO:0045095)		p.C262S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCCCAGCTATTGCCGCCAGGC	0.692																																							uc002zfp.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(784-786)TGC>AGC		keratin associated protein 10-9							62.0	79.0	73.0					21																	46047872		2201	4291	6492	SO:0001583	missense	386676					keratin filament		g.chr21:46047872T>A	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.784T>A	21.37:g.46047872T>A	ENSP00000381009:p.Cys262Ser					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C262S	NM_198690	NP_941963	P60411	KR109_HUMAN			1	833	+			262					A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	c.784T>A	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	t	11.55	1.672683	0.29693	.	.	ENSG00000221837	ENST00000397911	T	0.00873	5.59	3.33	2.14	0.27477	.	.	.	.	.	T	0.05181	0.0138	M	0.87682	2.9	0.25606	N	0.986543	D	0.54772	0.968	D	0.69824	0.966	T	0.14980	-1.0453	8	.	.	.	.	6.8681	0.24104	0.0:0.1219:0.0:0.8781	.	262	P60411	KR109_HUMAN	S	262	ENSP00000381009:C262S	.	C	+	1	0	KRTAP10-9	44872300	0.219000	0.23619	0.365000	0.25901	0.024000	0.10985	0.603000	0.24149	0.290000	0.22444	0.460000	0.39030	TGC		0.692	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			28	79	0	0	0	0.007291	0	28	79				
ADARB1	104	broad.mit.edu	37	21	46603320	46603320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr21:46603320C>T	ENST00000360697.3	+	5	1306	c.1291C>T	c.(1291-1293)Cga>Tga	p.R431*	ADARB1_ENST00000348831.4_Nonsense_Mutation_p.R431*|ADARB1_ENST00000389863.4_Nonsense_Mutation_p.R431*|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000539173.1_Nonsense_Mutation_p.R431*			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	431	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R431*(4)		endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GAAATCAGAGCGAGGGGGGTT	0.393																																							uc002zgy.2		NA																	4	Substitution - Nonsense(4)		lung(2)|endometrium(2)	skin(1)	1						c.(1291-1293)CGA>TGA		RNA-specific adenosine deaminase B1 isoform 2							59.0	62.0	61.0					21																	46603320		2203	4300	6503	SO:0001587	stop_gained	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46603320C>T	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.1291C>T	21.37:g.46603320C>T	ENSP00000353920:p.Arg431*					ADARB1_uc002zgr.2_Nonsense_Mutation_p.R431*|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Nonsense_Mutation_p.R431*|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Nonsense_Mutation_p.R431*|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	p.R431*	NM_015833	NP_056648	P78563	RED1_HUMAN		Colorectal(79;0.115)	7	1726	+			431			A to I editase.		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Nonsense_Mutation	SNP	ENST00000360697.3	37	c.1291C>T	CCDS33589.1	.	.	.	.	.	.	.	.	.	.	C	42	9.712843	0.99245	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	.	.	.	5.63	3.71	0.42584	.	0.121291	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-21.0208	8.635	0.33941	0.1513:0.7681:0.0:0.0806	.	.	.	.	X	431	.	ENSP00000015877:R431X	R	+	1	2	ADARB1	45427748	0.995000	0.38212	0.997000	0.53966	0.963000	0.63663	2.852000	0.48310	1.536000	0.49237	0.655000	0.94253	CGA		0.393	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		4	30	0	0	0	0.009096	0	4	30				
POTEH	23784	broad.mit.edu	37	22	16287667	16287667	+	Silent	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr22:16287667C>T	ENST00000343518.6	-	1	270	c.219G>A	c.(217-219)agG>agA	p.R73R		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	73								p.R73R(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCCGCTCCCCCTGCACCAGG	0.577																																							uc010gqp.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(217-219)AGG>AGA		ANKRD26-like family C, member 3							98.0	113.0	108.0					22																	16287667		2095	3915	6010	SO:0001819	synonymous_variant	23784							g.chr22:16287667C>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.219G>A	22.37:g.16287667C>T						POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	p.R73R	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	271	-			73					A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	ENST00000343518.6	37	c.219G>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	c	1.600	-0.526849	0.04141	.	.	ENSG00000198062	ENST00000359587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	POTEH	14667667	0.010000	0.17322	0.050000	0.19076	0.051000	0.14879	0.275000	0.18698	0.149000	0.19098	0.152000	0.16155	.		0.577	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		59	288	0	0	0	0.00361	0	59	288				
ZNF280A	129025	broad.mit.edu	37	22	22869678	22869678	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr22:22869678C>A	ENST00000302097.3	-	2	529	c.277G>T	c.(277-279)Gtg>Ttg	p.V93L	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V93L(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATAGAGGTCACATGATTTGCA	0.468																																							uc002zwe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(277-279)GTG>TTG		zinc finger protein 280A							190.0	157.0	168.0					22																	22869678		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869678C>A	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.277G>T	22.37:g.22869678C>A	ENSP00000302855:p.Val93Leu					LOC96610_uc011aim.1_Intron	p.V93L	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	530	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	93						Missense_Mutation	SNP	ENST00000302097.3	37	c.277G>T	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	C	9.920	1.211830	0.22289	.	.	ENSG00000169548	ENST00000302097	T	0.21734	1.99	3.8	-6.06	0.02165	.	.	.	.	.	T	0.18425	0.0442	L	0.40543	1.245	0.09310	N	1	P	0.44090	0.826	P	0.47603	0.551	T	0.16719	-1.0393	9	0.56958	D	0.05	2.3966	6.3173	0.21199	0.1422:0.2287:0.0:0.6291	.	93	P59817	Z280A_HUMAN	L	93	ENSP00000302855:V93L	ENSP00000302855:V93L	V	-	1	0	ZNF280A	21199678	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.434000	0.01021	-1.189000	0.02702	-0.312000	0.09012	GTG		0.468	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		24	79	1	0	1.1804e-14	0.003954	1.88126e-14	24	79				
SEC14L4	284904	broad.mit.edu	37	22	30886131	30886131	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr22:30886131T>G	ENST00000255858.7	-	12	1267	c.1184A>C	c.(1183-1185)cAg>cCg	p.Q395P	RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000381982.3_Intron|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000392772.2_Silent_p.R356R|SEC14L4_ENST00000540456.1_Missense_Mutation_p.Q380P	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	395						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.Q395P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CTTGAGACTCTGCAGCGTCTC	0.607																																							uc003aid.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1183-1185)CAG>CCG		SEC14p-like protein TAP3 isoform a	Vitamin E(DB00163)						155.0	113.0	127.0					22																	30886131		2203	4300	6503	SO:0001583	missense	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30886131T>G	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.1184A>C	22.37:g.30886131T>G	ENSP00000255858:p.Gln395Pro					SEC14L4_uc011akz.1_Intron|SEC14L4_uc003aie.2_Missense_Mutation_p.Q380P|SEC14L4_uc003aif.2_Silent_p.R356R	p.Q395P	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN			12	1284	-			395					A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	37	c.1184A>C	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.330761	0.24167	.	.	ENSG00000133488	ENST00000255858;ENST00000540456	T;T	0.41758	0.99;0.99	3.95	1.75	0.24633	GOLD (1);	0.461125	0.21187	N	0.078720	T	0.40670	0.1126	L	0.51422	1.61	0.28734	N	0.902336	P;P	0.43973	0.823;0.729	P;B	0.48952	0.596;0.391	T	0.27365	-1.0076	10	0.45353	T	0.12	-10.0932	5.1315	0.14913	0.0:0.1015:0.1828:0.7157	.	380;395	G3V1L4;Q9UDX3	.;S14L4_HUMAN	P	395;380	ENSP00000255858:Q395P;ENSP00000440848:Q380P	ENSP00000255858:Q395P	Q	-	2	0	SEC14L4	29216131	0.997000	0.39634	0.042000	0.18584	0.032000	0.12392	3.613000	0.54152	0.204000	0.20548	0.482000	0.46254	CAG		0.607	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		7	21	0	0	0	0.004482	0	7	21				
MYLK	4638	broad.mit.edu	37	3	123419547	123419547	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr3:123419547A>G	ENST00000475616.1	-	15	2767	c.2768T>C	c.(2767-2769)aTg>aCg	p.M923T	MYLK_ENST00000360772.3_Missense_Mutation_p.M923T|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_Missense_Mutation_p.M923T|MYLK_ENST00000359169.1_Missense_Mutation_p.M923T|MYLK_ENST00000346322.5_Missense_Mutation_p.M854T			Q15746	MYLK_HUMAN	myosin light chain kinase	923	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive). {ECO:0000250}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.M923T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACGGAAATCCATCTGCTCGGC	0.572																																							uc003ego.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|stomach(1)	9						c.(2767-2769)ATG>ACG		myosin light chain kinase isoform 1							88.0	75.0	80.0					3																	123419547		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419547A>G	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2768T>C	3.37:g.123419547A>G	ENSP00000418335:p.Met923Thr					MYLK_uc011bjw.1_Missense_Mutation_p.M923T|MYLK_uc003egp.2_Missense_Mutation_p.M854T|MYLK_uc003egq.2_Missense_Mutation_p.M923T|MYLK_uc003egr.2_Missense_Mutation_p.M854T|MYLK_uc003egs.2_Missense_Mutation_p.M747T|MYLK_uc003egt.2_Missense_Mutation_p.M114T	p.M923T	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	18	3050	-		Lung NSC(201;0.0496)	923			1-2.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).|5 X 28 AA approximate tandem repeats.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.2768T>C	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.887875	0.52014	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.66638	-0.22;-0.16;-0.22;-0.16;-0.16	4.99	4.99	0.66335	.	.	.	.	.	T	0.71651	0.3365	L	0.52364	1.645	0.80722	D	1	D;D;D;D;D;D	0.62365	0.984;0.981;0.981;0.991;0.967;0.973	P;P;P;P;P;P	0.57204	0.815;0.813;0.74;0.815;0.74;0.658	T	0.68758	-0.5324	9	0.24483	T	0.36	.	14.6782	0.68998	1.0:0.0:0.0:0.0	.	923;1;854;923;854;923	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	T	923;923;923;854;923	ENSP00000354004:M923T;ENSP00000353452:M923T;ENSP00000352088:M923T;ENSP00000320622:M854T;ENSP00000418335:M923T	ENSP00000320622:M854T	M	-	2	0	MYLK	124902237	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.996000	0.70639	1.878000	0.54408	0.459000	0.35465	ATG		0.572	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		19	34	0	0	0	0.010504	0	19	34				
SI	6476	broad.mit.edu	37	3	164780204	164780204	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr3:164780204G>T	ENST00000264382.3	-	9	1037	c.975C>A	c.(973-975)atC>atA	p.I325I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	325	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.I325I(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTCCTAGAAGGATGTAAAAAT	0.313										HNSCC(35;0.089)																													uc003fei.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(973-975)ATC>ATA		sucrase-isomaltase	Acarbose(DB00284)						65.0	66.0	66.0					3																	164780204		2203	4295	6498	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164780204G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.975C>A	3.37:g.164780204G>T		HNSCC(35;0.089)					p.I325I	NM_001041	NP_001032	P14410	SUIS_HUMAN			9	1037	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	325			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.975C>A	CCDS3196.1																																																																																				0.313	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		13	40	1	0	6.72482e-11	0.003163	9.4742e-11	13	40				
NLGN1	22871	broad.mit.edu	37	3	173997044	173997044	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr3:173997044T>G	ENST00000457714.1	+	6	1682	c.1253T>G	c.(1252-1254)tTt>tGt	p.F418C	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Missense_Mutation_p.F418C|NLGN1_ENST00000401917.3_Missense_Mutation_p.F458C|NLGN1_ENST00000361589.4_Missense_Mutation_p.F418C	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	435					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.F418C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTTTCAAATTTTGTTGATAAT	0.358																																							uc003fio.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(1252-1254)TTT>TGT		neuroligin 1							97.0	104.0	102.0					3																	173997044		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173997044T>G	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1253T>G	3.37:g.173997044T>G	ENSP00000392500:p.Phe418Cys					NLGN1_uc010hww.1_Missense_Mutation_p.F458C|NLGN1_uc003fip.1_Missense_Mutation_p.F418C	p.F418C	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1676	+	Ovarian(172;0.0025)		435			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1253T>G	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.514520	0.64522	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.89	4.74	0.60224	.	0.052085	0.85682	D	0.000000	T	0.81250	0.4783	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.82902	-0.0227	10	0.87932	D	0	.	11.6585	0.51332	0.0:0.0689:0.0:0.9311	.	458;418	D2X2H5;Q8N2Q7-2	.;.	C	418;418;418;458	ENSP00000392500:F418C;ENSP00000354541:F418C;ENSP00000441108:F418C;ENSP00000385750:F458C	ENSP00000354541:F418C	F	+	2	0	NLGN1	175479738	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	1.066000	0.40716	0.460000	0.39030	TTT		0.358	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		21	29	0	0	0	0.00333	0	21	29				
UTS2B	257313	broad.mit.edu	37	3	190993099	190993099	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr3:190993099C>A	ENST00000340524.5	-	8	1062	c.276G>T	c.(274-276)aaG>aaT	p.K92N	UTS2B_ENST00000427544.2_Missense_Mutation_p.K92N	NM_198152.3	NP_937795.2	Q765I0	UTS2B_HUMAN	urotensin 2B	92					regulation of blood pressure (GO:0008217)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)		p.K92N(1)									TCTCAGAATCCTTCTCCTCCA	0.393																																							uc003fsu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(274-276)AAG>AAT		urotensin 2 domain containing precursor							179.0	175.0	176.0					3																	190993099		2203	4300	6503	SO:0001583	missense	257313					extracellular region	hormone activity	g.chr3:190993099C>A	AB116021	CCDS3300.1	3q28	2013-02-28	2013-02-28	2013-02-28	ENSG00000188958	ENSG00000188958		"""Endogenous ligands"""	30894	protein-coding gene	gene with protein product	"""prepro-URP"""		"""urotensin 2 domain containing"""	UTS2D		14550283	Standard	NM_198152		Approved	URP, U2B	uc003fsu.3	Q765I0	OTTHUMG00000156192	ENST00000340524.5:c.276G>T	3.37:g.190993099C>A	ENSP00000340526:p.Lys92Asn						p.K92N	NM_198152	NP_937795	Q765I0	UTS2B_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000214)	8	1063	-	all_cancers(143;1.77e-09)|Ovarian(172;0.103)		92					B3KQY8|D3DNW1|Q2M1Z2	Missense_Mutation	SNP	ENST00000340524.5	37	c.276G>T	CCDS3300.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918499	0.33908	.	.	ENSG00000188958	ENST00000340524;ENST00000427544	T;T	0.50277	0.75;0.75	4.62	-1.07	0.09968	.	0.264466	0.26362	N	0.024819	T	0.30759	0.0775	L	0.39397	1.21	0.09310	N	1	B	0.20368	0.044	B	0.20384	0.029	T	0.11665	-1.0578	10	0.42905	T	0.14	-10.4503	4.0678	0.09868	0.1579:0.4481:0.0:0.394	.	92	Q765I0	UTS2B_HUMAN	N	92	ENSP00000340526:K92N;ENSP00000398761:K92N	ENSP00000340526:K92N	K	-	3	2	UTS2D	192475793	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-1.063000	0.03465	-0.495000	0.06659	0.467000	0.42956	AAG		0.393	UTS2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343353.1	NM_198152		50	57	1	0	9.22156e-22	0.00361	1.75485e-21	50	57				
SH3BP2	6452	broad.mit.edu	37	4	2834061	2834061	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:2834061G>T	ENST00000356331.5	+	11	1671	c.1410G>T	c.(1408-1410)ttG>ttT	p.L470F	SH3BP2_ENST00000435136.2_Missense_Mutation_p.L470F|SH3BP2_ENST00000511747.1_Missense_Mutation_p.L470F|SH3BP2_ENST00000442312.2_Missense_Mutation_p.L498F|SH3BP2_ENST00000503393.2_Missense_Mutation_p.L527F|SH3BP2_ENST00000452765.2_Missense_Mutation_p.L470F	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	470	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)	p.L470F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ATTTTAGGTTGTTCAAGGCTA	0.592									Cherubism																														uc003gfi.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1408-1410)TTG>TTT		SH3-domain binding protein 2 isoform a							94.0	107.0	102.0					4																	2834061		2203	4300	6503	SO:0001583	missense	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2834061G>T	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.1410G>T	4.37:g.2834061G>T	ENSP00000348685:p.Leu470Phe					SH3BP2_uc011bvp.1_Missense_Mutation_p.L498F|SH3BP2_uc003gfj.3_Missense_Mutation_p.L527F|SH3BP2_uc003gfk.3_Missense_Mutation_p.L470F|SH3BP2_uc003gfl.3_Missense_Mutation_p.L403F|SH3BP2_uc003gfm.3_Missense_Mutation_p.L445F	p.L470F	NM_001122681	NP_001116153	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	11	1530	+			470			SH2.		A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	c.1410G>T	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842463	0.51057	.	.	ENSG00000087266	ENST00000452765;ENST00000442312;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	D;D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84;-2.84	5.28	0.33	0.15929	SH2 motif (4);	0.277465	0.28790	N	0.014134	D	0.90212	0.6940	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.997;0.998	D;D;D;D	0.78314	0.968;0.991;0.946;0.986	D	0.86096	0.1553	10	0.59425	D	0.04	-18.7357	6.2894	0.21051	0.449:0.123:0.428:0.0	.	498;445;527;470	B4DT04;Q6ZVU3;D6R919;P78314	.;.;.;3BP2_HUMAN	F	470;498;470;470;527;470	ENSP00000409746:L470F;ENSP00000388152:L498F;ENSP00000403231:L470F;ENSP00000424846:L470F;ENSP00000422168:L527F;ENSP00000348685:L470F	ENSP00000348685:L470F	L	+	3	2	SH3BP2	2803859	0.992000	0.36948	0.938000	0.37757	0.497000	0.33675	0.116000	0.15561	-0.286000	0.09076	-0.345000	0.07892	TTG		0.592	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		62	93	1	0	1.55545e-33	0.00361	3.05107e-33	62	93				
TBC1D14	57533	broad.mit.edu	37	4	7006648	7006648	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:7006648G>T	ENST00000409757.4	+	8	1472	c.1348G>T	c.(1348-1350)Gaa>Taa	p.E450*	TBC1D14_ENST00000446947.2_Nonsense_Mutation_p.E63*|TBC1D14_ENST00000451522.2_Nonsense_Mutation_p.E170*|TBC1D14_ENST00000410031.1_Nonsense_Mutation_p.E222*|TBC1D14_ENST00000448507.1_Nonsense_Mutation_p.E450*	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	450	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)	p.E435*(1)|p.E435K(1)|p.E450*(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						AGTGGAGAACGAAGGTAGAAT	0.458																																							uc011bwg.1		NA																	3	Substitution - Nonsense(2)|Substitution - Missense(1)		lung(2)|large_intestine(1)	ovary(1)|pancreas(1)	2						c.(1348-1350)GAA>TAA		TBC1 domain family, member 14 isoform a							103.0	105.0	105.0					4																	7006648		2203	4300	6503	SO:0001587	stop_gained	57533					intracellular	Rab GTPase activator activity	g.chr4:7006648G>T	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1348G>T	4.37:g.7006648G>T	ENSP00000386921:p.Glu450*					TBC1D14_uc003gjs.3_Nonsense_Mutation_p.E450*|TBC1D14_uc010idh.2_Nonsense_Mutation_p.E170*|TBC1D14_uc011bwh.1_Nonsense_Mutation_p.E63*|TBC1D14_uc003gju.3_5'UTR	p.E450*	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN			8	1427	+			450			Rab-GAP TBC.		B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Nonsense_Mutation	SNP	ENST00000409757.4	37	c.1348G>T	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256879	0.80246	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000439515;ENST00000446947	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-27.5393	18.059	0.89371	0.0:0.0:1.0:0.0	.	.	.	.	X	450;450;222;170;69;63	.	ENSP00000386921:E450X	E	+	1	0	TBC1D14	7057549	1.000000	0.71417	0.963000	0.40424	0.254000	0.26022	9.031000	0.93731	2.722000	0.93159	0.655000	0.94253	GAA		0.458	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		23	50	1	0	1.55795e-14	0.012319	2.46755e-14	23	50				
SLIT2	9353	broad.mit.edu	37	4	20493522	20493522	+	Splice_Site	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:20493522T>C	ENST00000504154.1	+	9	1166	c.914T>C	c.(913-915)aTa>aCa	p.I305T	SLIT2_ENST00000503823.1_Splice_Site_p.I305T|SLIT2_ENST00000503837.1_Splice_Site_p.I309T|SLIT2_ENST00000273739.5_Splice_Site_p.I309T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	305					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.I305T(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						ATCACAGAAATGTATGTGCCT	0.458																																							uc003gpr.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(913-915)ATA>ACA		slit homolog 2 precursor							110.0	103.0	105.0					4																	20493522		2203	4300	6503	SO:0001630	splice_region_variant	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.chr4:20493522T>C	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.914+1T>C	4.37:g.20493522T>C						SLIT2_uc003gps.1_Missense_Mutation_p.I305T	p.I305T	NM_004787	NP_004778	O94813	SLIT2_HUMAN			9	1118	+			305			LRR 7.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.914T>C	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424552	0.83667	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.63	5.63	0.86233	.	0.039064	0.85682	D	0.000000	T	0.73321	0.3572	M	0.79926	2.475	0.80722	D	1	D;P	0.54207	0.965;0.711	P;P	0.56514	0.8;0.751	T	0.76623	-0.2891	10	0.54805	T	0.06	.	16.1485	0.81594	0.0:0.0:0.0:1.0	.	305;305	O94813-3;O94813	.;SLIT2_HUMAN	T	305;305;309;309;309	ENSP00000427548:I305T;ENSP00000422591:I305T;ENSP00000273739:I309T;ENSP00000422261:I309T	ENSP00000273739:I309T	I	+	2	0	SLIT2	20102620	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.655000	0.83696	2.281000	0.76405	0.533000	0.62120	ATA		0.458	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		Missense_Mutation	23	103	0	0	0	0.00333	0	23	103				
ARAP2	116984	broad.mit.edu	37	4	36230472	36230472	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:36230472C>A	ENST00000303965.4	-	2	1126	c.637G>T	c.(637-639)Gac>Tac	p.D213Y		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	213					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.D213Y(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CATTCAGAGTCTGCATTAGGG	0.368																																							uc003gsq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(637-639)GAC>TAC		ArfGAP with RhoGAP domain, ankyrin repeat and PH							130.0	129.0	130.0					4																	36230472		2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36230472C>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.637G>T	4.37:g.36230472C>A	ENSP00000302895:p.Asp213Tyr					ARAP2_uc003gsr.1_Missense_Mutation_p.D213Y	p.D213Y	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			2	975	-			213					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.637G>T	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	4.443	0.082031	0.08533	.	.	ENSG00000047365	ENST00000303965	T	0.09445	2.98	5.92	4.18	0.49190	.	0.301150	0.31949	N	0.006817	T	0.06280	0.0162	N	0.24115	0.695	0.09310	N	1	P;P	0.42409	0.779;0.468	B;B	0.36808	0.233;0.086	T	0.30208	-0.9986	10	0.62326	D	0.03	.	4.7545	0.13077	0.1605:0.6056:0.0:0.2338	.	143;213	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	Y	213	ENSP00000302895:D213Y	ENSP00000302895:D213Y	D	-	1	0	ARAP2	35906867	0.046000	0.20272	0.004000	0.12327	0.037000	0.13140	1.351000	0.34022	0.839000	0.34971	0.603000	0.83216	GAC		0.368	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		79	99	1	0	1.42074e-37	0.00361	2.83038e-37	79	99				
LPHN3	23284	broad.mit.edu	37	4	62935842	62935842	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:62935842A>G	ENST00000514591.1	+	25	3955	c.3626A>G	c.(3625-3627)aAt>aGt	p.N1209S	LPHN3_ENST00000509896.1_Silent_p.Q1294Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.N1268S|LPHN3_ENST00000508946.1_Missense_Mutation_p.N1252S|LPHN3_ENST00000504896.1_Silent_p.Q1269Q|LPHN3_ENST00000512091.2_Silent_p.Q1226Q|RP11-84A1.3_ENST00000509461.1_RNA|RP11-84A1.3_ENST00000504135.1_RNA|LPHN3_ENST00000514996.1_Missense_Mutation_p.N1243S|LPHN3_ENST00000506746.1_Missense_Mutation_p.N1311S|RP11-84A1.3_ENST00000506704.1_RNA|LPHN3_ENST00000545650.1_Missense_Mutation_p.N1209S|LPHN3_ENST00000514157.1_Silent_p.Q1260Q|LPHN3_ENST00000506700.1_Silent_p.Q1217Q|LPHN3_ENST00000508693.1_Silent_p.Q1337Q|LPHN3_ENST00000507164.1_Silent_p.Q1328Q|LPHN3_ENST00000511324.1_Silent_p.Q1285Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.N1320S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1187					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.Q1226Q(2)|p.N1209S(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTTCTGAACAATGCCAGGGAT	0.413																																							uc010ihh.2		NA																	3	Substitution - coding silent(2)|Substitution - Missense(1)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(3625-3627)AAT>AGT		latrophilin 3 precursor							71.0	74.0	73.0					4																	62935842		2096	4279	6375	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62935842A>G	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3626A>G	4.37:g.62935842A>G	ENSP00000422533:p.Asn1209Ser					LPHN3_uc003hcq.3_Silent_p.Q1226Q|LPHN3_uc003hct.2_Missense_Mutation_p.N593S	p.N1209S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			23	3799	+			1187			Cytoplasmic (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.3626A>G	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.801806	0.50315	.	.	ENSG00000150471	ENST00000514591;ENST00000545650;ENST00000295349;ENST00000507625;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T	0.73152	-0.71;-0.71;-0.72;-0.61;-0.62;-0.63;-0.62	5.01	5.01	0.66863	GPCR, family 2, latrophilin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79505	0.4457	L	0.49126	1.545	0.58432	D	0.999994	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.992	T	0.78705	-0.2100	10	0.38643	T	0.18	.	14.7277	0.69357	1.0:0.0:0.0:0.0	.	1209;1187	E9PE04;Q9HAR2	.;LPHN3_HUMAN	S	1209;1209;1187;1268;1252;1320;1311;1243	ENSP00000422533:N1209S;ENSP00000439831:N1209S;ENSP00000421372:N1268S;ENSP00000421627:N1252S;ENSP00000420931:N1320S;ENSP00000425884:N1311S;ENSP00000424258:N1243S	ENSP00000295349:N1187S	N	+	2	0	LPHN3	62618437	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.962000	0.93254	1.881000	0.54492	0.377000	0.23210	AAT		0.413	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			28	40	0	0	0	0.009535	0	28	40				
FSTL5	56884	broad.mit.edu	37	4	162421230	162421230	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:162421230G>T	ENST00000306100.5	-	12	1832	c.1396C>A	c.(1396-1398)Caa>Aaa	p.Q466K	FSTL5_ENST00000379164.4_Missense_Mutation_p.Q465K|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q456K|FSTL5_ENST00000536695.1_Missense_Mutation_p.Q465K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	466						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.Q466K(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTATGGGTTGTATCACTTTG	0.328																																							uc003iqh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(1396-1398)CAA>AAA		follistatin-like 5 isoform a							102.0	96.0	98.0					4																	162421230		2203	4299	6502	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162421230G>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1396C>A	4.37:g.162421230G>T	ENSP00000305334:p.Gln466Lys					FSTL5_uc003iqi.2_Missense_Mutation_p.Q465K|FSTL5_uc010iqv.2_Missense_Mutation_p.Q456K	p.Q466K	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	12	1832	-	all_hematologic(180;0.24)		466					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.1396C>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680605	0.68042	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.72282	-0.62;-0.6;-0.64;-0.6	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	M	0.63843	1.955	0.80722	D	1	B;P;B	0.35401	0.307;0.499;0.172	B;B;B	0.33620	0.097;0.167;0.058	T	0.72475	-0.4282	10	0.54805	T	0.06	.	17.875	0.88822	0.0:0.0:1.0:0.0	.	456;465;466	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	K	466;465;456;465	ENSP00000305334:Q466K;ENSP00000368462:Q465K;ENSP00000389270:Q456K;ENSP00000440409:Q465K	ENSP00000305334:Q466K	Q	-	1	0	FSTL5	162640680	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.627000	0.88993	0.563000	0.77884	CAA		0.328	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		7	30	1	0	0.000157383	0.00308	0.000170778	7	30				
TENM3	55714	broad.mit.edu	37	4	183713936	183713936	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:183713936G>T	ENST00000511685.1	+	26	6234	c.6111G>T	c.(6109-6111)acG>acT	p.T2037T	TENM3_ENST00000406950.2_Silent_p.T2037T			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2037					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T2037T(2)									TCAATGAAACGCCACTGCCTA	0.383																																							uc003ivd.1		NA																	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)		0						c.(6109-6111)ACG>ACT		odz, odd Oz/ten-m homolog 3							115.0	115.0	115.0					4																	183713936		1975	4169	6144	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183713936G>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6111G>T	4.37:g.183713936G>T							p.T2037T	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	25	6148	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	2037			YD 13.|Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.6111G>T	CCDS47165.1																																																																																				0.383	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			19	89	1	0	8.10497e-08	0.010504	1.05447e-07	19	89				
SNX25	83891	broad.mit.edu	37	4	186272671	186272671	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:186272671C>G	ENST00000504273.1	+	14	2176	c.1882C>G	c.(1882-1884)Ctc>Gtc	p.L628V	SNX25_ENST00000512853.1_Intron|SNX25_ENST00000264694.8_Missense_Mutation_p.L628V			Q9H3E2	SNX25_HUMAN	sorting nexin 25	628	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.L628V(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TCCTGACTACCTCAAGGTTAT	0.448																																							uc003ixh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(1882-1884)CTC>GTC		sorting nexin 25							175.0	163.0	167.0					4																	186272671		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186272671C>G	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1882C>G	4.37:g.186272671C>G	ENSP00000426255:p.Leu628Val					SNX25_uc010ish.2_Intron|SNX25_uc003ixi.2_Missense_Mutation_p.L132V	p.L628V	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	14	2071	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	628			PX.		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.1882C>G	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022388	0.93462	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.11604	2.76;2.76	5.94	5.94	0.96194	Phox homologous domain (2);	0.000000	0.85682	D	0.000000	T	0.35770	0.0943	M	0.77820	2.39	0.80722	D	1	P;D	0.69078	0.911;0.997	B;D	0.78314	0.232;0.991	T	0.01500	-1.1339	10	0.22109	T	0.4	-12.0796	20.3658	0.98878	0.0:1.0:0.0:0.0	.	161;628	Q9H5Q8;Q9H3E2	.;SNX25_HUMAN	V	628;628;161	ENSP00000426255:L628V;ENSP00000264694:L628V	ENSP00000264693:L161V	L	+	1	0	SNX25	186509665	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.142000	0.77339	2.820000	0.97059	0.650000	0.86243	CTC		0.448	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		28	91	0	0	0	0.004656	0	28	91				
FAT1	2195	broad.mit.edu	37	4	187584546	187584546	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:187584546C>A	ENST00000441802.2	-	3	3696	c.3487G>T	c.(3487-3489)Gca>Tca	p.A1163S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1163	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1163S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ggatcaaatgcctcgatctgg	0.393										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(3487-3489)GCA>TCA		FAT tumor suppressor 1 precursor							141.0	131.0	134.0					4																	187584546		1857	4103	5960	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187584546C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3487G>T	4.37:g.187584546C>A	ENSP00000406229:p.Ala1163Ser	HNSCC(5;0.00058)					p.A1163S	NM_005245	NP_005236	Q14517	FAT1_HUMAN			3	3675	-			1163			Extracellular (Potential).|Cadherin 10.			Missense_Mutation	SNP	ENST00000441802.2	37	c.3487G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976339	0.92982	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.61510	0.1	5.33	5.33	0.75918	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.84388	0.5461	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88658	0.3187	10	0.66056	D	0.02	.	19.2129	0.93765	0.0:1.0:0.0:0.0	.	1163	Q14517	FAT1_HUMAN	S	1163	ENSP00000406229:A1163S	ENSP00000260147:A1163S	A	-	1	0	FAT1	187821540	1.000000	0.71417	0.989000	0.46669	0.759000	0.43091	7.651000	0.83577	2.778000	0.95560	0.591000	0.81541	GCA		0.393	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		17	55	1	0	5.3912e-06	0.006122	6.2489e-06	17	55				
TRIML1	339976	broad.mit.edu	37	4	189063558	189063558	+	Silent	SNP	C	C	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:189063558C>G	ENST00000332517.3	+	3	797	c.657C>G	c.(655-657)acC>acG	p.T219T	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	219					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T219T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCAAACTGACCCAGCAAATCA	0.453																																					Melanoma(31;213 1036 16579 23968 32372)	Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(655-657)ACC>ACG		tripartite motif family-like 1							122.0	125.0	124.0					4																	189063558		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189063558C>G	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.657C>G	4.37:g.189063558C>G						TRIML1_uc003izn.1_5'Flank	p.T219T	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	3	772	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	219			Potential.		Q96BE5	Silent	SNP	ENST00000332517.3	37	c.657C>G	CCDS3851.1																																																																																				0.453	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		12	35	0	0	0	0.001855	0	12	35				
PLEKHG4B	153478	broad.mit.edu	37	5	182169	182169	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:182169C>A	ENST00000283426.6	+	18	3597	c.3547C>A	c.(3547-3549)Ccc>Acc	p.P1183T		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1183	Ser-rich.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P1183T(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCACGCCGCCCCCTTCAAGCG	0.607																																							uc003jak.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(3547-3549)CCC>ACC		pleckstrin homology domain containing, family G							115.0	103.0	107.0					5																	182169		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:182169C>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3547C>A	5.37:g.182169C>A	ENSP00000283426:p.Pro1183Thr						p.P1183T	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	18	3597	+			1183			Ser-rich.			Missense_Mutation	SNP	ENST00000283426.6	37	c.3547C>A	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	C	5.828	0.336978	0.11013	.	.	ENSG00000153404	ENST00000283426	T	0.29142	1.58	3.55	0.612	0.17591	.	.	.	.	.	T	0.21962	0.0529	N	0.19112	0.55	0.18873	N	0.999982	P	0.51351	0.944	P	0.48552	0.581	T	0.10520	-1.0626	9	0.51188	T	0.08	.	3.881	0.09079	0.0:0.5576:0.1998:0.2426	.	1183	Q96PX9	PKH4B_HUMAN	T	1183	ENSP00000283426:P1183T	ENSP00000283426:P1183T	P	+	1	0	PLEKHG4B	235169	0.127000	0.22367	0.137000	0.22149	0.093000	0.18481	1.312000	0.33574	-0.263000	0.09378	-0.499000	0.04595	CCC		0.607	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		29	105	1	0	4.2108e-06	0.009535	4.92548e-06	29	105				
SLC1A3	6507	broad.mit.edu	37	5	36679962	36679962	+	Splice_Site	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:36679962G>T	ENST00000265113.4	+	7	1570	c.1094G>T	c.(1093-1095)aGt>aTt	p.S365I	SLC1A3_ENST00000381918.3_Splice_Site_p.S365I|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	365					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.S365I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCTCTTCAAGGTATGTATGT	0.453																																							uc003jkj.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1093-1095)AGT>ATT		solute carrier family 1 (glial high affinity	L-Glutamic Acid(DB00142)						44.0	43.0	43.0					5																	36679962		2203	4300	6503	SO:0001630	splice_region_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36679962G>T		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.1094+1G>T	5.37:g.36679962G>T						SLC1A3_uc011cox.1_Missense_Mutation_p.S258I|SLC1A3_uc010iuy.2_Missense_Mutation_p.S365I	p.S365I	NM_004172	NP_004163	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1570	+	all_lung(31;0.000245)		365					B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	c.1094G>T	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563700	0.86335	.	.	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.78003	-1.14;-1.14	5.62	4.74	0.60224	.	0.035099	0.85682	D	0.000000	D	0.92925	0.7749	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95789	0.8823	10	0.87932	D	0	-15.1162	16.6276	0.84975	0.0:0.1301:0.8699:0.0	.	365;365	Q4JCQ8;P43003	.;EAA1_HUMAN	I	365;313;365	ENSP00000265113:S365I;ENSP00000371343:S365I	ENSP00000265113:S365I	S	+	2	0	SLC1A3	36715719	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.860000	0.99555	1.363000	0.46019	0.561000	0.74099	AGT		0.453	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172	Missense_Mutation	28	19	1	0	2.41591e-17	0.004656	4.16255e-17	28	19				
MAP1B	4131	broad.mit.edu	37	5	71491582	71491582	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:71491582C>A	ENST00000296755.7	+	5	2698	c.2400C>A	c.(2398-2400)ggC>ggA	p.G800G		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	800					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.G800G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CAGCTGTCGGCACTGGAGCCA	0.542																																					Melanoma(17;367 822 11631 31730 47712)	Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(2398-2400)GGC>GGA		microtubule-associated protein 1B							36.0	40.0	39.0					5																	71491582		2201	4294	6495	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491582C>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2400C>A	5.37:g.71491582C>A						MAP1B_uc010iyw.1_Silent_p.G817G|MAP1B_uc010iyx.1_Silent_p.G674G|MAP1B_uc010iyy.1_Silent_p.G674G	p.G800G	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2641	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	800					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.2400C>A	CCDS4012.1																																																																																				0.542	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		20	28	1	0	1.9806e-07	0.002299	2.5101e-07	20	28				
SLCO4C1	353189	broad.mit.edu	37	5	101592825	101592825	+	Missense_Mutation	SNP	T	T	G	rs143134834		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:101592825T>G	ENST00000310954.6	-	8	1749	c.1463A>C	c.(1462-1464)tAt>tCt	p.Y488S		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.Y488S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTACCCATTATATGATTCAGA	0.333																																							uc003knm.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(1462-1464)TAT>TCT		solute carrier organic anion transporter family,							71.0	69.0	70.0					5																	101592825		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101592825T>G	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1463A>C	5.37:g.101592825T>G	ENSP00000309741:p.Tyr488Ser						p.Y488S	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	8	1750	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	488			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000310954.6	37	c.1463A>C	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.779393	0.49891	.	.	ENSG00000173930	ENST00000310954	T	0.39406	1.08	5.47	5.47	0.80525	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000010	T	0.67878	0.2940	M	0.85710	2.77	0.44603	D	0.997576	D	0.69078	0.997	D	0.75020	0.985	T	0.72640	-0.4232	10	0.52906	T	0.07	.	15.602	0.76631	0.0:0.0:0.0:1.0	.	488	Q6ZQN7	SO4C1_HUMAN	S	488	ENSP00000309741:Y488S	ENSP00000309741:Y488S	Y	-	2	0	SLCO4C1	101620724	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	5.673000	0.68109	2.081000	0.62600	0.473000	0.43528	TAT		0.333	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		13	25	0	0	0	0.001368	0	13	25				
PCDHGB3	56102	broad.mit.edu	37	5	140751709	140751709	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:140751709A>T	ENST00000576222.1	+	1	1879	c.1748A>T	c.(1747-1749)gAg>gTg	p.E583V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	583	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTCTGCAGAGCCTGGCTAC	0.647																																							uc003ljw.1		NA																	0					0						c.(1747-1749)GAG>GTG		protocadherin gamma subfamily B, 3 isoform 1							57.0	67.0	63.0					5																	140751709		2203	4299	6502	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751709A>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1748A>T	5.37:g.140751709A>T	ENSP00000461862:p.Glu583Val					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.E583V|PCDHGA6_uc011dau.1_5'Flank	p.E583V	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1748	+			583			Extracellular (Potential).|Cadherin 6.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1748A>T	CCDS58980.1																																																																																				0.647	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		19	34	0	0	0	0.007413	0	19	34				
PCDHGA7	56108	broad.mit.edu	37	5	140764230	140764230	+	Silent	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:140764230G>C	ENST00000518325.1	+	1	1764	c.1764G>C	c.(1762-1764)gtG>gtC	p.V588V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	588	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V588V(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACCTGGTGACCAAGGTGG	0.622																																							uc003lka.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1762-1764)GTG>GTC		protocadherin gamma subfamily A, 7 isoform 1							77.0	90.0	86.0					5																	140764230		2203	4300	6503	SO:0001819	synonymous_variant	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140764230G>C	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1764G>C	5.37:g.140764230G>C						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.V588V	p.V588V	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1764	+			588			Extracellular (Potential).|Cadherin 6.		B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.1764G>C	CCDS54927.1																																																																																				0.622	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		25	48	0	0	0	0.00278	0	25	48				
DPYSL3	1809	broad.mit.edu	37	5	146780281	146780281	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:146780281T>G	ENST00000398514.3	-	10	1455	c.1084A>C	c.(1084-1086)Atg>Ctg	p.M362L	DPYSL3_ENST00000343218.5_Missense_Mutation_p.M476L|CTB-108O6.2_ENST00000607270.1_RNA|DPYSL3_ENST00000534907.1_Intron	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	362					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)	p.M362L(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAGACATCCGCTCCTCC	0.567																																							uc003lon.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1084-1086)ATG>CTG		dihydropyrimidinase-like 3							113.0	120.0	118.0					5																	146780281		2203	4300	6503	SO:0001583	missense	1809				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	g.chr5:146780281T>G	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1084A>C	5.37:g.146780281T>G	ENSP00000381526:p.Met362Leu					DPYSL3_uc003loo.2_Missense_Mutation_p.M476L	p.M362L	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1194	-			362					B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	c.1084A>C	CCDS43381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.93|19.93	3.918054|3.918054	0.73098|0.73098	.|.	.|.	ENSG00000113657|ENSG00000113657	ENST00000520473|ENST00000398514;ENST00000343218	.|D;D	.|0.87729	.|-2.29;-2.29	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86326|0.86326	0.5906|0.5906	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B;P	.|0.45396	.|0.043;0.857	.|B;P	.|0.47430	.|0.129;0.547	D|D	0.87412|0.87412	0.2376|0.2376	5|10	.|0.56958	.|D	.|0.05	-0.8853|-0.8853	15.9488|15.9488	0.79817|0.79817	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|476;362	.|B3SXQ8;Q14195	.|.;DPYL3_HUMAN	A|L	60|362;476	.|ENSP00000381526:M362L;ENSP00000343690:M476L	.|ENSP00000343690:M476L	D|M	-|-	2|1	0|0	DPYSL3|DPYSL3	146760474|146760474	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.953000|0.953000	0.61014|0.61014	7.975000|7.975000	0.88055|0.88055	2.228000|2.228000	0.72767|0.72767	0.528000|0.528000	0.53228|0.53228	GAT|ATG		0.567	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		18	27	0	0	0	0.006122	0	18	27				
NMUR2	56923	broad.mit.edu	37	5	151771964	151771964	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:151771964G>T	ENST00000255262.3	-	4	1201	c.1036C>A	c.(1036-1038)Cac>Aac	p.H346N		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	346					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.H346N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CACTGTTTGTGGAAAGAAGAG	0.512																																							uc003luv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8						c.(1036-1038)CAC>AAC		neuromedin U receptor 2							142.0	132.0	135.0					5																	151771964		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151771964G>T	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.1036C>A	5.37:g.151771964G>T	ENSP00000255262:p.His346Asn						p.H346N	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		4	1202	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	346			Cytoplasmic (Potential).		Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.1036C>A	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	2.252	-0.371285	0.05034	.	.	ENSG00000132911	ENST00000255262	T	0.36699	1.24	4.7	2.3	0.28687	.	0.740368	0.13149	N	0.410010	T	0.17704	0.0425	N	0.08118	0	0.22975	N	0.998488	B	0.19706	0.038	B	0.18263	0.021	T	0.24368	-1.0162	10	0.27785	T	0.31	-17.6981	7.7031	0.28634	0.8161:0.0:0.1839:0.0	.	346	Q9GZQ4	NMUR2_HUMAN	N	346	ENSP00000255262:H346N	ENSP00000255262:H346N	H	-	1	0	NMUR2	151752157	0.936000	0.31750	0.998000	0.56505	0.081000	0.17604	1.675000	0.37555	0.269000	0.21961	-0.373000	0.07131	CAC		0.512	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		30	42	1	0	5.77227e-19	0.008361	1.04392e-18	30	42				
TIMD4	91937	broad.mit.edu	37	5	156381546	156381546	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:156381546C>A	ENST00000274532.2	-	2	336	c.280G>T	c.(280-282)Gat>Tat	p.D94Y	TIMD4_ENST00000407087.3_Missense_Mutation_p.D94Y	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	94	Ig-like V-type.					integral component of membrane (GO:0016021)		p.D94Y(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGAGACATCACCTCTCGGG	0.502																																							uc003lwh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(280-282)GAT>TAT		T-cell immunoglobulin and mucin domain							114.0	101.0	105.0					5																	156381546		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156381546C>A	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.280G>T	5.37:g.156381546C>A	ENSP00000274532:p.Asp94Tyr					TIMD4_uc010jii.2_Missense_Mutation_p.D94Y	p.D94Y	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	337	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	94			Ig-like V-type.|Extracellular (Potential).		B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.280G>T	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	c	14.70	2.612789	0.46631	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.03094	4.05;4.05	5.54	-2.72	0.05968	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.852017	0.10287	N	0.692789	T	0.15609	0.0376	M	0.85197	2.74	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.71656	0.964;0.974	T	0.02877	-1.1099	10	0.72032	D	0.01	-2.7927	8.5714	0.33572	0.0:0.5881:0.1901:0.2218	.	94;94	B5MCL9;Q96H15	.;TIMD4_HUMAN	Y	94	ENSP00000274532:D94Y;ENSP00000385973:D94Y	ENSP00000274532:D94Y	D	-	1	0	TIMD4	156314124	0.059000	0.20769	0.000000	0.03702	0.002000	0.02628	0.374000	0.20501	-0.568000	0.06038	-1.021000	0.02439	GAT		0.502	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		23	25	1	0	3.5997e-14	0.002299	5.63143e-14	23	25				
ITK	3702	broad.mit.edu	37	5	156649936	156649936	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:156649936C>A	ENST00000422843.3	+	6	711	c.559C>A	c.(559-561)Cct>Act	p.P187T	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	187	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.P187T(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	AACCAATGATCCTCAGGAACT	0.488			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	Esophageal Squamous(70;1378 1469 8785 19883)	uc003lwo.1		NA		Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		1	Substitution - Missense(1)		lung(1)	lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26						c.(559-561)CCT>ACT		IL2-inducible T-cell kinase							120.0	111.0	114.0					5																	156649936		2203	4300	6503	SO:0001583	missense	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156649936C>A	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.559C>A	5.37:g.156649936C>A	ENSP00000398655:p.Pro187Thr						p.P187T	NM_005546	NP_005537	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		6	641	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	187			SH3.		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.559C>A	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015563	0.35511	.	.	ENSG00000113263	ENST00000521769;ENST00000422843	D;T	0.89270	-2.49;2.18	5.81	5.81	0.92471	Src homology-3 domain (4);	0.224097	0.46145	D	0.000307	D	0.87605	0.6219	L	0.57130	1.785	0.26466	N	0.975364	P	0.35656	0.514	B	0.36030	0.216	T	0.81176	-0.1052	10	0.35671	T	0.21	.	17.008	0.86398	0.0:1.0:0.0:0.0	.	187	Q08881	ITK_HUMAN	T	62;187	ENSP00000430327:P62T;ENSP00000398655:P187T	ENSP00000398655:P187T	P	+	1	0	ITK	156582514	0.846000	0.29590	0.163000	0.22734	0.722000	0.41435	3.408000	0.52651	2.746000	0.94184	0.591000	0.81541	CCT		0.488	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			24	32	1	0	9.57634e-11	0.00333	1.33441e-10	24	32				
ADAMTS2	9509	broad.mit.edu	37	5	178634669	178634669	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr5:178634669G>T	ENST00000251582.7	-	4	837	c.736C>A	c.(736-738)Cta>Ata	p.L246I	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.L246I	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	246					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L246I(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGCTCCTCTAGGACGCCCAGG	0.657																																							uc003mjw.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(736-738)CTA>ATA		ADAM metallopeptidase with thrombospondin type 1							95.0	81.0	86.0					5																	178634669		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178634669G>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.736C>A	5.37:g.178634669G>T	ENSP00000251582:p.Leu246Ile					ADAMTS2_uc011dgm.1_Missense_Mutation_p.L246I	p.L246I	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	4	736	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	246						Missense_Mutation	SNP	ENST00000251582.7	37	c.736C>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	3.273	-0.148628	0.06627	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.60797	0.2;0.16	5.34	2.38	0.29361	.	0.627509	0.12918	N	0.428429	T	0.39384	0.1076	N	0.25890	0.77	0.18873	N	0.999988	B;B	0.09022	0.002;0.002	B;B	0.14578	0.011;0.001	T	0.19321	-1.0309	10	0.12766	T	0.61	.	8.9685	0.35892	0.0:0.1873:0.4153:0.3975	.	246;246	O95450-2;O95450	.;ATS2_HUMAN	I	246	ENSP00000251582:L246I;ENSP00000274609:L246I	ENSP00000251582:L246I	L	-	1	2	ADAMTS2	178567275	0.023000	0.18921	0.993000	0.49108	0.029000	0.11900	0.184000	0.16939	1.233000	0.43693	0.561000	0.74099	CTA		0.657	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		19	61	1	0	2.4624e-09	0.008871	3.33995e-09	19	61				
TRIM39	56658	broad.mit.edu	37	6	30303750	30303750	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:30303750A>C	ENST00000396547.1	+	4	938	c.778A>C	c.(778-780)Aag>Cag	p.K260Q	TRIM39_ENST00000396548.1_Missense_Mutation_p.K260Q|TRIM39_ENST00000540416.1_Missense_Mutation_p.K260Q|TRIM39_ENST00000376656.4_Missense_Mutation_p.K260Q|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.K172Q|TRIM39_ENST00000396551.3_Missense_Mutation_p.K260Q|TRIM39_ENST00000376659.5_Missense_Mutation_p.K260Q			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	260					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K260Q(1)		ovary(3)	3						CGAGATGCTTAAGGTTCGACC	0.582																																							uc010jrz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(778-780)AAG>CAG		tripartite motif-containing 39 isoform 1							80.0	58.0	66.0					6																	30303750		1511	2709	4220	SO:0001583	missense	56658				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding	g.chr6:30303750A>C	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.778A>C	6.37:g.30303750A>C	ENSP00000379796:p.Lys260Gln					TRIM39_uc003npz.2_Missense_Mutation_p.K260Q|TRIM39_uc003nqb.2_Missense_Mutation_p.K260Q|TRIM39_uc003nqc.2_Missense_Mutation_p.K260Q|TRIM39_uc010jsa.1_Missense_Mutation_p.K260Q	p.K260Q	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN			5	1090	+			260					Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	c.778A>C	CCDS34377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.67|16.67	3.187487|3.187487	0.57909|0.57909	.|.	.|.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167|ENSG00000204599	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556|ENST00000420746	T;T;T;T;T;T;T;T|T	0.65549|0.08282	4.01;0.24;4.01;-0.16;4.01;4.01;0.24;4.01|3.11	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.614892|.	0.15309|.	N|.	0.269176|.	T|T	0.01905|0.01905	0.0060|0.0060	N|N	0.01424|0.01424	-0.875|-0.875	0.35871|0.35871	D|D	0.828249|0.828249	D;B;B|.	0.76494|.	0.999;0.434;0.037|.	D;B;B|.	0.78314|.	0.991;0.223;0.084|.	T|T	0.45056|0.45056	-0.9287|-0.9287	10|7	0.02654|0.87932	T|D	1|0	.|.	11.4728|11.4728	0.50280|0.50280	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	174;260;260|.	F5H2V3;Q9HCM9;Q9HCM9-2|.	.;TRI39_HUMAN;.|.	Q|F	260;260;260;260;260;174;260;260;260;260;172|189	ENSP00000379800:K260Q;ENSP00000365844:K260Q;ENSP00000439400:K260Q;ENSP00000406019:K260Q;ENSP00000379797:K260Q;ENSP00000365847:K260Q;ENSP00000379796:K260Q;ENSP00000424048:K172Q|ENSP00000388224:L189F	ENSP00000365844:K260Q|ENSP00000388224:L189F	K|L	+|+	1|3	0|2	TRIM39-RPP21;TRIM39|TRIM39	30411729|30411729	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.681000|2.681000	0.46926|0.46926	2.203000|2.203000	0.70933|0.70933	0.528000|0.528000	0.53228|0.53228	AAG|TTA		0.582	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		10	28	0	0	0	0.006214	0	10	28				
COL11A2	1302	broad.mit.edu	37	6	33156932	33156932	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:33156932A>T	ENST00000374708.4	-	3	524	c.266T>A	c.(265-267)gTt>gAt	p.V89D	COL11A2_ENST00000374713.1_Missense_Mutation_p.V89D|COL11A2_ENST00000357486.1_Missense_Mutation_p.V89D|COL11A2_ENST00000361917.1_Missense_Mutation_p.V89D|COL11A2_ENST00000374714.1_Missense_Mutation_p.V89D|COL11A2_ENST00000395197.1_Missense_Mutation_p.V89D|COL11A2_ENST00000341947.2_Missense_Mutation_p.V89D|COL11A2_ENST00000374712.1_Missense_Mutation_p.V89D|COL11A2_ENST00000395194.1_Missense_Mutation_p.V89D	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	89	Laminin G-like.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.V89D(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGTCCGGACAACAGTCAGCAG	0.597																																					Melanoma(1;90 116 3946 5341 17093)	Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(265-267)GTT>GAT		collagen, type XI, alpha 2 isoform 1							45.0	56.0	53.0					6																	33156932		2203	4300	6503	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33156932A>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.266T>A	6.37:g.33156932A>T	ENSP00000363840:p.Val89Asp					COL11A2_uc003ocy.1_Missense_Mutation_p.V89D|COL11A2_uc003ocz.1_Missense_Mutation_p.V89D|COL11A2_uc003oda.2_Missense_Mutation_p.V89D	p.V89D	NM_080680	NP_542411	P13942	COBA2_HUMAN			3	494	-			89			TSP N-terminal.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.266T>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.742976	0.30865	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	T;T;T;T;T;T;T;T;T;T	0.02177	4.41;4.41;4.41;4.41;4.41;4.41;4.41;4.41;4.41;4.41	3.45	-1.6	0.08426	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.455003	0.19124	N	0.122095	T	0.01287	0.0042	L	0.32530	0.975	0.20403	N	0.9999	P;B;B;D	0.61080	0.836;0.062;0.062;0.989	B;B;B;P	0.53912	0.369;0.047;0.047;0.737	T	0.49513	-0.8932	10	0.72032	D	0.01	.	7.9158	0.29816	0.5872:0.0:0.4128:0.0	.	89;89;89;89	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	D	89	ENSP00000363840:V89D;ENSP00000339915:V89D;ENSP00000350079:V89D;ENSP00000363846:V89D;ENSP00000363845:V89D;ENSP00000378623:V89D;ENSP00000363844:V89D;ENSP00000355123:V89D;ENSP00000405520:V89D;ENSP00000378620:V89D	ENSP00000339915:V89D	V	-	2	0	COL11A2	33264910	0.000000	0.05858	0.331000	0.25455	0.991000	0.79684	0.358000	0.20216	-0.313000	0.08728	0.450000	0.29827	GTT		0.597	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			19	25	0	0	0	0.007413	0	19	25				
PGC	5225	broad.mit.edu	37	6	41712181	41712181	+	Silent	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:41712181G>A	ENST00000373025.3	-	3	344	c.282C>T	c.(280-282)tcC>tcT	p.S94S	PGC_ENST00000425343.2_Silent_p.S94S	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	94					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.S94S(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ACAAGTTGGAGGAGCCGGTGT	0.602																																							uc003ora.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(280-282)TCC>TCT		progastricsin (pepsinogen C) precursor							69.0	71.0	70.0					6																	41712181		2203	4300	6503	SO:0001819	synonymous_variant	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41712181G>A		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.282C>T	6.37:g.41712181G>A							p.S94S	NM_002630	NP_002621	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		3	331	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		94					B4DVZ3|Q5T3D7|Q5T3D8	Silent	SNP	ENST00000373025.3	37	c.282C>T	CCDS4859.1																																																																																				0.602	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			21	51	0	0	0	0.012319	0	21	51				
OPN5	221391	broad.mit.edu	37	6	47775959	47775959	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:47775959G>C	ENST00000371211.2	+	5	854	c.826G>C	c.(826-828)Gct>Cct	p.A276P	OPN5_ENST00000393699.2_Missense_Mutation_p.A276P|OPN5_ENST00000489301.2_Missense_Mutation_p.A276P|OPN5_ENST00000244799.4_3'UTR	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	276					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.A276P(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGTGTGGTCAGCTTTTGGAAG	0.463																																					Melanoma(28;740 973 10870 42660 45347)	Melanoma(28;740 973 10870 42660 45347)	uc003ozc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(826-828)GCT>CCT		opsin 5 isoform 1							335.0	294.0	308.0					6																	47775959		2203	4300	6503	SO:0001583	missense	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47775959G>C	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.826G>C	6.37:g.47775959G>C	ENSP00000360255:p.Ala276Pro					OPN5_uc003ozd.2_Missense_Mutation_p.A111P	p.A276P	NM_181744	NP_859528	Q6U736	OPN5_HUMAN			5	831	+			276			Extracellular (Potential).		A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	c.826G>C	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	G	34	5.365409	0.95900	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.38887	1.11;1.11;1.11	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62196	0.2408	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.64972	-0.6281	10	0.72032	D	0.01	.	19.8585	0.96775	0.0:0.0:1.0:0.0	.	276	Q6U736	OPN5_HUMAN	P	276	ENSP00000426991:A276P;ENSP00000360255:A276P;ENSP00000377302:A276P	ENSP00000360255:A276P	A	+	1	0	OPN5	47883918	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.760000	0.94817	0.655000	0.94253	GCT		0.463	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		36	102	0	0	0	0.003271	0	36	102				
CRISP3	10321	broad.mit.edu	37	6	49704164	49704164	+	Silent	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:49704164C>A	ENST00000393666.1	-	2	135	c.129G>T	c.(127-129)gtG>gtT	p.V43V	CRISP3_ENST00000433368.2_Silent_p.V66V|CRISP3_ENST00000263045.4_Silent_p.V56V|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000371159.4_Silent_p.V74V			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	43	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)		p.V43V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGTGCTTATTCACAATCTCCC	0.413																																							uc003ozs.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(127-129)GTG>GTT		cysteine-rich secretory protein 3 precursor							212.0	191.0	198.0					6																	49704164		2203	4300	6503	SO:0001819	synonymous_variant	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49704164C>A	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.129G>T	6.37:g.49704164C>A							p.V43V	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		3	144	-	Lung NSC(77;0.0161)		43					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Silent	SNP	ENST00000393666.1	37	c.129G>T																																																																																					0.413	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		56	144	1	0	2.12129e-23	0.00361	4.09794e-23	56	144				
GSTA5	221357	broad.mit.edu	37	6	52699031	52699031	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:52699031G>C	ENST00000370989.2	-	4	351	c.322C>G	c.(322-324)Ctt>Gtt	p.L108V	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.L108V			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	108	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.L108V(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	ATGAGCAGAAGAAGGATCATT	0.368																																							uc003pba.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(322-324)CTT>GTT		glutathione S-transferase alpha 5	Glutathione(DB00143)						194.0	185.0	188.0					6																	52699031		2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52699031G>C	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.322C>G	6.37:g.52699031G>C	ENSP00000360028:p.Leu108Val						p.L108V	NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN			5	392	-	Lung NSC(77;0.0912)		108			GST C-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.322C>G	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	G	0.192	-1.052393	0.01981	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.02177	4.41;4.41	2.58	-2.19	0.07015	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	2.145920	0.01997	N	0.045948	T	0.00580	0.0019	L	0.33668	1.02	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48570	-0.9024	10	0.15066	T	0.55	.	4.7626	0.13115	0.3257:0.2944:0.3799:0.0	.	108	Q7RTV2	GSTA5_HUMAN	V	108	ENSP00000360028:L108V;ENSP00000284562:L108V	ENSP00000284562:L108V	L	-	1	0	GSTA5	52806990	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-3.055000	0.00626	-0.383000	0.07858	0.184000	0.17185	CTT		0.368	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		47	114	0	0	0	0.013114	0	47	114				
MLIP	90523	broad.mit.edu	37	6	53883845	53883845	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:53883845G>T	ENST00000274897.5	+	1	132	c.19G>T	c.(19-21)Gaa>Taa	p.E7*	MLIP_ENST00000370877.2_Nonsense_Mutation_p.E7*|MLIP_ENST00000509997.1_Nonsense_Mutation_p.E7*|MLIP_ENST00000514921.1_Nonsense_Mutation_p.E7*	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	7	Interaction with LMNA.					nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.E7*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TGAAAAGCGTGAAAAAAGAAG	0.358																																							uc003pcg.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(19-21)GAA>TAA		hypothetical protein LOC90523							61.0	64.0	63.0					6																	53883845		2203	4300	6503	SO:0001587	stop_gained	90523					nuclear envelope|PML body	protein binding	g.chr6:53883845G>T	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.19G>T	6.37:g.53883845G>T	ENSP00000274897:p.Glu7*					C6orf142_uc003pcf.2_Nonsense_Mutation_p.E7*	p.E7*	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			1	132	+	Lung NSC(77;0.0317)		7			Interaction with LMNA.		B7Z2N0|D6RE05|Q96H08|Q96NF7	Nonsense_Mutation	SNP	ENST00000274897.5	37	c.19G>T	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	38	7.146703	0.98096	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997	.	.	.	5.9	5.02	0.67125	.	0.652197	0.14485	N	0.316737	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-0.0553	10.6958	0.45899	0.1452:0.0:0.8548:0.0	.	.	.	.	X	7	.	ENSP00000274897:E7X	E	+	1	0	MLIP	53991804	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.254000	0.51477	2.802000	0.96397	0.650000	0.86243	GAA		0.358	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		7	34	1	0	8.12818e-05	0.001984	8.934e-05	7	34				
HMGCLL1	54511	broad.mit.edu	37	6	55360355	55360355	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:55360355G>T	ENST00000398661.2	-	8	878	c.747C>A	c.(745-747)gaC>gaA	p.D249E	HMGCLL1_ENST00000308161.4_Missense_Mutation_p.D187E|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.D116E|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.D219E|HMGCLL1_ENST00000508459.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	249					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)	p.D249E(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTCCAATTGTGTCTCCTAGAG	0.413																																					Ovarian(35;840 893 7837 15538 42887)	Ovarian(35;840 893 7837 15538 42887)	uc003pcn.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(745-747)GAC>GAA		3-hydroxymethyl-3-methylglutaryl-Coenzyme A							119.0	110.0	113.0					6																	55360355		1872	4116	5988	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55360355G>T	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.747C>A	6.37:g.55360355G>T	ENSP00000381654:p.Asp249Glu					HMGCLL1_uc003pco.2_Missense_Mutation_p.D219E|HMGCLL1_uc010jzx.2_Missense_Mutation_p.D120E|HMGCLL1_uc011dxc.1_Missense_Mutation_p.D187E|HMGCLL1_uc011dxd.1_Missense_Mutation_p.D116E|HMGCLL1_uc011dxe.1_Intron	p.D249E	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		8	906	-	Lung NSC(77;0.0875)		249					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.747C>A	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593946	0.66219	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000308161	D;D;D;D	0.99507	-6.04;-6.04;-5.7;-6.04	5.61	0.84	0.18912	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99459	0.9808	M	0.93720	3.45	0.80722	D	1	D;D;D;D	0.89917	0.981;1.0;1.0;1.0	D;D;D;D	0.97110	0.988;1.0;1.0;1.0	D	0.99896	1.1147	10	0.62326	D	0.03	-24.798	9.9879	0.41852	0.3312:0.0:0.6688:0.0	.	116;187;219;249	B7Z212;F8W793;Q8TB92-2;Q8TB92	.;.;.;HMGC2_HUMAN	E	219;249;116;187	ENSP00000274901:D219E;ENSP00000381654:D249E;ENSP00000359887:D116E;ENSP00000309737:D187E	ENSP00000274901:D219E	D	-	3	2	HMGCLL1	55468314	1.000000	0.71417	0.979000	0.43373	0.969000	0.65631	1.729000	0.38115	0.062000	0.16340	-0.133000	0.14855	GAC		0.413	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		24	31	1	0	4.7796e-09	0.004656	6.44867e-09	24	31				
BAI3	577	broad.mit.edu	37	6	69685223	69685223	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:69685223G>T	ENST00000370598.1	+	10	2546	c.1725G>T	c.(1723-1725)ttG>ttT	p.L575F		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	575					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L575F(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACAGACACTTGCAGCATTCAG	0.443																																							uc003pev.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(1723-1725)TTG>TTT		brain-specific angiogenesis inhibitor 3							91.0	79.0	83.0					6																	69685223		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69685223G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1725G>T	6.37:g.69685223G>T	ENSP00000359630:p.Leu575Phe					BAI3_uc010kak.2_Missense_Mutation_p.L575F	p.L575F	NM_001704	NP_001695	O60242	BAI3_HUMAN			10	2173	+		all_lung(197;0.212)	575			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.1725G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242476	0.79912	.	.	ENSG00000135298	ENST00000370598	T	0.32753	1.44	5.75	4.88	0.63580	GPCR, family 2, extracellular hormone receptor domain (1);	0.164616	0.42172	D	0.000742	T	0.43986	0.1272	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.49854	-0.8895	10	0.87932	D	0	.	14.8822	0.70542	0.0687:0.0:0.9313:0.0	.	575	O60242	BAI3_HUMAN	F	575	ENSP00000359630:L575F	ENSP00000359630:L575F	L	+	3	2	BAI3	69741944	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.336000	0.65935	1.576000	0.49790	0.650000	0.86243	TTG		0.443	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			12	39	1	0	9.31168e-06	0.001855	1.06479e-05	12	39				
PNISR	25957	broad.mit.edu	37	6	99856015	99856015	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:99856015T>C	ENST00000369239.5	-	7	1010	c.806A>G	c.(805-807)aAg>aGg	p.K269R	PNISR_ENST00000438806.1_Missense_Mutation_p.K269R	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	269						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K269R(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TTCTGTGGCCTTTTTTTCTTT	0.393																																							uc003ppo.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(805-807)AAG>AGG		splicing factor, arginine/serine-rich 130							115.0	110.0	112.0					6																	99856015		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99856015T>C	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.806A>G	6.37:g.99856015T>C	ENSP00000358242:p.Lys269Arg					SFRS18_uc003ppp.3_Missense_Mutation_p.K269R|SFRS18_uc011eag.1_Missense_Mutation_p.K269R|SFRS18_uc003ppr.2_Missense_Mutation_p.K269R	p.K269R	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0631)	7	1034	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	269			Potential.		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.806A>G	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.119060	0.56505	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.45276	0.9;0.9	5.76	4.6	0.57074	.	0.315166	0.42172	D	0.000746	T	0.18257	0.0438	L	0.38175	1.15	0.36811	D	0.885878	B	0.06786	0.001	B	0.06405	0.002	T	0.05178	-1.0901	10	0.35671	T	0.21	.	11.4963	0.50410	0.0:0.0699:0.0:0.9301	.	269	Q8TF01	PNISR_HUMAN	R	269	ENSP00000358242:K269R;ENSP00000387997:K269R	ENSP00000358242:K269R	K	-	2	0	PNISR	99962736	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.763000	0.62257	2.327000	0.79052	0.533000	0.62120	AAG		0.393	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		38	75	0	0	0	0.00623	0	38	75				
ASCC3	10973	broad.mit.edu	37	6	101075568	101075568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:101075568G>A	ENST00000369162.2	-	29	4884	c.4540C>T	c.(4540-4542)Cga>Tga	p.R1514*		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1514					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.R1514*(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ACTGATGGTCGGAAGTTAAAC	0.363																																							uc003pqk.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(1)	6						c.(4540-4542)CGA>TGA		activating signal cointegrator 1 complex subunit							81.0	77.0	78.0					6																	101075568		2203	4300	6503	SO:0001587	stop_gained	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101075568G>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4540C>T	6.37:g.101075568G>A	ENSP00000358159:p.Arg1514*						p.R1514*	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	29	4869	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1514					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Nonsense_Mutation	SNP	ENST00000369162.2	37	c.4540C>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	46	12.938788	0.99707	.	.	ENSG00000112249	ENST00000369162	.	.	.	5.7	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4807	0.67579	0.0:0.0:0.7374:0.2626	.	.	.	.	X	1514	.	ENSP00000358159:R1514X	R	-	1	2	ASCC3	101182289	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.673000	0.61604	2.689000	0.91719	0.561000	0.74099	CGA		0.363	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		8	27	0	0	0	0.008291	0	8	27				
GRIK2	2898	broad.mit.edu	37	6	102247541	102247541	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:102247541T>A	ENST00000421544.1	+	7	1460	c.970T>A	c.(970-972)Tat>Aat	p.Y324N	GRIK2_ENST00000413795.1_Missense_Mutation_p.Y324N|GRIK2_ENST00000369134.4_Missense_Mutation_p.Y275N|GRIK2_ENST00000318991.6_Missense_Mutation_p.Y324N|GRIK2_ENST00000369137.3_Missense_Mutation_p.Y324N|GRIK2_ENST00000369138.1_Missense_Mutation_p.Y324N	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	324					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.Y324N(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGCTCTAATGTATGATGCTGT	0.458																																							uc003pqp.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(970-972)TAT>AAT		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						216.0	192.0	200.0					6																	102247541		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102247541T>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.970T>A	6.37:g.102247541T>A	ENSP00000397026:p.Tyr324Asn					GRIK2_uc003pqn.2_Missense_Mutation_p.Y324N|GRIK2_uc003pqo.3_Missense_Mutation_p.Y324N|GRIK2_uc010kcw.2_Missense_Mutation_p.Y324N	p.Y324N	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	7	1219	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	324			Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.970T>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.242146	0.79912	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610	D;D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	5.44	5.44	0.79542	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92665	0.7669	M	0.70108	2.13	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	D	0.93264	0.6646	10	0.56958	D	0.05	.	15.4875	0.75578	0.0:0.0:0.0:1.0	.	324;324;324	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	N	324;324;324;324;324;324;275;286;37	ENSP00000397026:Y324N;ENSP00000405596:Y324N;ENSP00000358134:Y324N;ENSP00000358133:Y324N;ENSP00000313276:Y324N;ENSP00000358130:Y275N;ENSP00000391988:Y37N	ENSP00000313276:Y324N	Y	+	1	0	GRIK2	102354234	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.676000	0.84012	2.063000	0.61619	0.533000	0.62120	TAT		0.458	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			37	87	0	0	0	0.00874	0	37	87				
GSTM2P1	442245	broad.mit.edu	37	6	111368258	111368258	+	IGR	SNP	A	A	G	rs112652573	byFrequency	TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:111368258A>G								RPF2 (20955 upstream) : SLC16A10 (40522 downstream)																							GATGAAATCCACAAGTGTGAT	0.493													A|||	8	0.00159744	0.0061	0.0	5008	,	,		22009	0.0		0.0	False		,,,				2504	0.0						uc003puq.2		NA																	0					0						c.(364-366)GTG>GCG		Homo sapiens chromosome 1 truncated glutathione S-transferase M1 mRNA, complete cds.																																				SO:0001628	intergenic_variant	442245							g.chr6:111368258A>G																													6.37:g.111368258A>G							p.V122A	NR_002932						1	500	-									Missense_Mutation	SNP		37	c.365T>C																																																																																				0	0.493									13	38	0	0	0	0.001855	0	13	38				
THEMIS	387357	broad.mit.edu	37	6	128176268	128176268	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:128176268C>T	ENST00000368248.2	-	2	305	c.157G>A	c.(157-159)Ggt>Agt	p.G53S	THEMIS_ENST00000537166.1_Missense_Mutation_p.G18S|THEMIS_ENST00000543064.1_Missense_Mutation_p.G53S|THEMIS_ENST00000368250.1_5'UTR	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	53	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G53S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACTTTGAGACCAGTAATTTTA	0.338																																							uc003qbi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(157-159)GGT>AGT		thymocyte selection pathway associated isoform							93.0	91.0	92.0					6																	128176268		2203	4299	6502	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128176268C>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.157G>A	6.37:g.128176268C>T	ENSP00000357231:p.Gly53Ser					THEMIS_uc010kfa.2_5'UTR|THEMIS_uc011ebt.1_Missense_Mutation_p.G53S|THEMIS_uc010kfb.2_Missense_Mutation_p.G18S	p.G53S	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			3	476	-			53			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.157G>A	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315206	0.60524	.	.	ENSG00000172673	ENST00000543064;ENST00000368248;ENST00000537166	T;T;T	0.13196	2.61;2.61;2.79	5.43	4.54	0.55810	.	0.334072	0.31134	N	0.008197	T	0.08044	0.0201	L	0.38531	1.155	0.30105	N	0.807137	P;P	0.38110	0.525;0.618	B;P	0.44561	0.164;0.453	T	0.16335	-1.0406	10	0.27785	T	0.31	-2.4464	15.0798	0.72106	0.0:0.9281:0.0:0.0718	.	53;53	F5H1J9;Q8N1K5	.;THMS1_HUMAN	S	53;53;18	ENSP00000439594:G53S;ENSP00000357231:G53S;ENSP00000439863:G18S	ENSP00000357231:G53S	G	-	1	0	THEMIS	128217961	0.995000	0.38212	0.995000	0.50966	0.997000	0.91878	3.030000	0.49720	2.688000	0.91661	0.650000	0.86243	GGT		0.338	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		14	25	0	0	0	0.001855	0	14	25				
TAAR6	319100	broad.mit.edu	37	6	132892437	132892437	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:132892437T>C	ENST00000275198.1	+	1	977	c.977T>C	c.(976-978)gTa>gCa	p.V326A		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	326			V -> I (in dbSNP:rs17061419). {ECO:0000269|PubMed:15329799}.		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.V326A(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		AAAGTTATTGTAACTGGTCAG	0.318																																							uc011eck.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(976-978)GTA>GCA		trace amine associated receptor 6							65.0	67.0	66.0					6																	132892437		2203	4300	6503	SO:0001583	missense	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132892437T>C	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.977T>C	6.37:g.132892437T>C	ENSP00000275198:p.Val326Ala						p.V326A	NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	977	+	Breast(56;0.112)		326			Cytoplasmic (Potential).		Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	c.977T>C	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.094992	0.36952	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.38077	1.16	5.11	3.94	0.45596	.	0.388296	0.20060	N	0.100118	T	0.20941	0.0504	M	0.63843	1.955	0.09310	N	1	B	0.22983	0.078	B	0.28991	0.097	T	0.25676	-1.0125	10	0.87932	D	0	-2.2706	10.925	0.47185	0.0:0.0738:0.0:0.9262	.	326	Q96RI8	TAAR6_HUMAN	A	326;301	ENSP00000275198:V326A	ENSP00000275198:V326A	V	+	2	0	TAAR6	132934130	0.124000	0.22315	0.001000	0.08648	0.871000	0.50021	3.015000	0.49599	0.951000	0.37770	0.528000	0.53228	GTA		0.318	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		38	70	0	0	0	0.003755	0	38	70				
THBS2	7058	broad.mit.edu	37	6	169648565	169648565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:169648565C>A	ENST00000366787.3	-	4	805	c.556G>T	c.(556-558)Gaa>Taa	p.E186*		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	186	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.E186*(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGGCTCTTTTCCGCCTGCAGG	0.617																																					Esophageal Squamous(91;219 1934 18562 44706)	Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(5)	5						c.(556-558)GAA>TAA		thrombospondin 2 precursor							90.0	93.0	92.0					6																	169648565		2203	4300	6503	SO:0001587	stop_gained	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648565C>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.556G>T	6.37:g.169648565C>A	ENSP00000355751:p.Glu186*						p.E186*	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	804	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	186			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Nonsense_Mutation	SNP	ENST00000366787.3	37	c.556G>T	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	36	5.679390	0.96774	.	.	ENSG00000186340	ENST00000366787	.	.	.	4.5	4.5	0.54988	.	0.345102	0.20145	U	0.098281	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-17.8005	17.5714	0.87935	0.0:1.0:0.0:0.0	.	.	.	.	X	186	.	ENSP00000355751:E186X	E	-	1	0	THBS2	169390490	1.000000	0.71417	0.023000	0.16930	0.101000	0.19017	5.473000	0.66774	2.204000	0.70986	0.563000	0.77884	GAA		0.617	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		39	84	1	0	2.19358e-23	0.005524	4.20574e-23	39	84				
HOXA2	3199	broad.mit.edu	37	7	27140486	27140486	+	Silent	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr7:27140486T>C	ENST00000222718.5	-	2	1300	c.990A>G	c.(988-990)acA>acG	p.T330T	HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000425358.2_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	330					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T330T(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						GGCAGGAATCTGTGGAGAAAA	0.502																																							uc003syh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(988-990)ACA>ACG		homeobox A2							76.0	76.0	76.0					7																	27140486		2203	4300	6503	SO:0001819	synonymous_variant	3199					nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:27140486T>C		CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.990A>G	7.37:g.27140486T>C							p.T330T	NM_006735	NP_006726	O43364	HXA2_HUMAN			2	1265	-			330					A1L4K3|B2RMW3	Silent	SNP	ENST00000222718.5	37	c.990A>G	CCDS5403.1																																																																																				0.502	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2			26	30	0	0	0	0.003954	0	26	30				
HOXA7	3204	broad.mit.edu	37	7	27194740	27194740	+	Missense_Mutation	SNP	T	T	C	rs201959803	byFrequency	TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr7:27194740T>C	ENST00000242159.3	-	2	614	c.481A>G	c.(481-483)Att>Gtt	p.I161V	HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000524304.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000521231.1_RNA|HOXA-AS3_ENST00000518848.1_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	161					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.I161V(1)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GCGATTTCAATGCGGCGGCGC	0.607													T|||	2	0.000399361	0.0	0.0	5008	,	,		14612	0.002		0.0	False		,,,				2504	0.0						uc003sys.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(481-483)ATT>GTT		homeobox A7							95.0	102.0	99.0					7																	27194740		2203	4300	6503	SO:0001583	missense	3204				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	g.chr7:27194740T>C		CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.481A>G	7.37:g.27194740T>C	ENSP00000242159:p.Ile161Val					HOXA6_uc003syq.1_5'Flank|uc003syr.1_3'UTR	p.I161V	NM_006896	NP_008827	P31268	HXA7_HUMAN			2	613	-			161			Homeobox.		A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	37	c.481A>G	CCDS5408.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	T	15.72	2.916588	0.52546	.	.	ENSG00000122592	ENST00000242159	D	0.96041	-3.89	4.96	4.96	0.65561	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.052611	0.64402	D	0.000001	D	0.92648	0.7664	N	0.04724	-0.175	0.58432	D	0.999994	P	0.40282	0.711	P	0.52454	0.699	D	0.93395	0.6755	10	0.44086	T	0.13	.	14.6809	0.69017	0.0:0.0:0.0:1.0	.	161	P31268	HXA7_HUMAN	V	161	ENSP00000242159:I161V	ENSP00000242159:I161V	I	-	1	0	HOXA7	27161265	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.763000	0.62257	1.883000	0.54544	0.374000	0.22700	ATT		0.607	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			38	74	0	0	0	0.007835	0	38	74				
ZNF716	441234	broad.mit.edu	37	7	57529162	57529162	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr7:57529162C>A	ENST00000420713.1	+	4	1107	c.995C>A	c.(994-996)gCc>gAc	p.A332D		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	332					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A332D(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						TGTGGCAAAGCCTTTAGCTTA	0.418																																							uc011kdi.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(994-996)GCC>GAC		zinc finger protein 716							41.0	41.0	41.0					7																	57529162		692	1591	2283	SO:0001583	missense	441234							g.chr7:57529162C>A	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.995C>A	7.37:g.57529162C>A	ENSP00000394248:p.Ala332Asp						p.A332D	NM_001159279	NP_001152751					4	1107	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.995C>A	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	C	5.599	0.295317	0.10622	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.14266	2.52	0.109	0.109	0.14578	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14960	0.0361	M	0.69823	2.125	0.25897	N	0.983408	B	0.21606	0.058	B	0.25405	0.06	T	0.33059	-0.9883	9	0.72032	D	0.01	.	3.7025	0.08387	2.0E-4:0.5106:0.4891:1.0E-4	.	320	A6NP11	ZN716_HUMAN	D	332;320	ENSP00000394248:A332D	ENSP00000387687:A320D	A	+	2	0	ZNF716	57533104	0.002000	0.14202	0.045000	0.18777	0.045000	0.14185	0.773000	0.26661	0.181000	0.19994	0.184000	0.17185	GCC		0.418	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		13	13	1	0	1.05317e-09	0.00245	1.43614e-09	13	13				
ABCB1	5243	broad.mit.edu	37	7	87168583	87168583	+	Splice_Site	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr7:87168583C>A	ENST00000265724.3	-	20	2815		c.e20+1		ABCB1_ENST00000543898.1_Splice_Site	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1						drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.?(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GATAGACATACCTGTCTGAGC	0.542																																							uc003uiz.1		NA																	1	Unknown(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.e20+1		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						111.0	93.0	99.0					7																	87168583		2203	4300	6503	SO:0001630	splice_region_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87168583C>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2397+1G>T	7.37:g.87168583C>A						ABCB1_uc011khc.1_Splice_Site_p.Q735_splice	p.Q799_splice	NM_000927	NP_000918	P08183	MDR1_HUMAN			20	2815	-	Esophageal squamous(14;0.00164)							A8K294|B5AK60|Q12755|Q14812	Splice_Site	SNP	ENST00000265724.3	37	c.2397_splice	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106958	0.94292	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCB1	87006519	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.757000	0.85209	2.854000	0.98071	0.655000	0.94253	.		0.542	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	Intron	8	20	1	0	2.17888e-05	0.006214	2.46939e-05	8	20				
LRGUK	136332	broad.mit.edu	37	7	133824234	133824234	+	Silent	SNP	C	C	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr7:133824234C>T	ENST00000285928.2	+	3	520	c.451C>T	c.(451-453)Cta>Tta	p.L151L	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.L151L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ATATGTTCATCTACAGAAGTT	0.318																																							uc003vrm.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|kidney(1)	5						c.(451-453)CTA>TTA		leucine-rich repeats and guanylate kinase domain							135.0	130.0	132.0					7																	133824234		2201	4300	6501	SO:0001819	synonymous_variant	136332						ATP binding|kinase activity	g.chr7:133824234C>T	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.451C>T	7.37:g.133824234C>T							p.L151L	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			3	467	+			151			LRR 2.		Q2M3I1	Silent	SNP	ENST00000285928.2	37	c.451C>T	CCDS5830.1																																																																																				0.318	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		13	35	0	0	0	0.004007	0	13	35				
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	A	rs121913358|rs397516890|rs121913355		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr7:140481402C>A	ENST00000288602.6	-	11	1466	c.1406G>T	c.(1405-1407)gGa>gTa	p.G469V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	469	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:14612909, ECO:0000269|PubMed:17344846}.|G -> E (in CFC1 and colon cancer). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:19206169}.|G -> R (in NHL). {ECO:0000269|PubMed:14612909}.|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GTAGACTGTTCCAAATGATCC	0.373	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	Colon(40;35 892 2973 5743 27438)	uc003vwc.3	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	42	Substitution - Missense(42)	p.G469A(19)|p.G469V(12)|p.G469S(6)|p.G469R(6)|p.G469E(5)	lung(13)|large_intestine(9)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|biliary_tract(2)|NS(2)|upper_aerodigestive_tract(1)|cervix(1)|small_intestine(1)|oesophagus(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	GRCh37	CM060876	BRAF	M	rs121913355	c.(1405-1407)GGA>GTA		B-Raf	Sorafenib(DB00398)						174.0	149.0	158.0					7																	140481402		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140481402C>A	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1406G>T	7.37:g.140481402C>A	ENSP00000288602:p.Gly469Val						p.G469V	NM_004333	NP_004324	P15056	BRAF_HUMAN			11	1467	-	Melanoma(164;0.00956)		469		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).	ATP (By similarity).|Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1406G>T	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.806444|4.806444	0.90623|0.90623	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.90261	.|-2.64	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.96929	.|0.8997	H|H	0.95539|0.95539	3.685|3.685	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|D	.|0.97854	.|1.0276	.|10	.|0.87932	.|D	.|0	.|.	17.8428|17.8428	0.88720|0.88720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|469	.|P15056	.|BRAF_HUMAN	X|V	77|469	.|ENSP00000288602:G469V	.|ENSP00000288602:G469V	E|G	-|-	1|2	0|0	BRAF|BRAF	140127871|140127871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.637000|2.637000	0.89404|0.89404	0.585000|0.585000	0.79938|0.79938	GAA|GGA		0.373	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		34	77	1	0	6.97489e-18	0.004878	1.21822e-17	34	77				
KMT2C	58508	broad.mit.edu	37	7	151945057	151945057	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr7:151945057G>A	ENST00000262189.6	-	14	2680	c.2462C>T	c.(2461-2463)cCa>cTa	p.P821L	KMT2C_ENST00000355193.2_Missense_Mutation_p.P821L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	821					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P821L(2)									GCCAATTTTTGGAGTGACTGA	0.413																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2461-2463)CCA>CTA		myeloid/lymphoid or mixed-lineage leukemia 3							346.0	293.0	311.0					7																	151945057		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151945057G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2462C>T	7.37:g.151945057G>A	ENSP00000262189:p.Pro821Leu						p.P821L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	14	2681	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	821					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2462C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120984	0.77436	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.87729	-2.29;-2.29	5.67	5.67	0.87782	.	0.000000	0.46145	D	0.000308	D	0.90758	0.7099	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91356	0.5108	10	0.66056	D	0.02	.	19.7692	0.96356	0.0:0.0:1.0:0.0	.	821	Q8NEZ4	MLL3_HUMAN	L	821	ENSP00000262189:P821L;ENSP00000347325:P821L	ENSP00000262189:P821L	P	-	2	0	MLL3	151575990	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.658000	0.90341	0.650000	0.86243	CCA		0.413	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			20	226	0	0	0	0.007413	0	20	226				
ERICH1	157697	broad.mit.edu	37	8	623844	623844	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr8:623844G>C	ENST00000262109.7	-	4	585	c.508C>G	c.(508-510)Caa>Gaa	p.Q170E	ERICH1_ENST00000518277.1_5'Flank|ERICH1_ENST00000522706.1_Missense_Mutation_p.Q76E	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	170								p.Q170E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CTTTTAATTTGCTGTTTCTTT	0.468																																							uc003wph.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(508-510)CAA>GAA		glutamate-rich 1							63.0	69.0	67.0					8																	623844		2203	4300	6503	SO:0001583	missense	157697							g.chr8:623844G>C		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.508C>G	8.37:g.623844G>C	ENSP00000262109:p.Gln170Glu					ERICH1_uc011kwh.1_Missense_Mutation_p.Q170E|ERICH1_uc003wpe.1_Missense_Mutation_p.Q76E|ERICH1_uc003wpi.2_5'UTR	p.Q170E	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	4	573	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	170					A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	37	c.508C>G	CCDS5955.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551674	0.65311	.	.	ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109	T;T	0.38240	1.24;1.15	5.98	5.98	0.97165	.	0.274576	0.36234	N	0.002719	T	0.55970	0.1954	L	0.61218	1.895	0.28783	N	0.899736	D;D;D	0.63880	0.993;0.993;0.974	P;P;P	0.60789	0.879;0.879;0.794	T	0.53578	-0.8419	10	0.56958	D	0.05	-11.9627	17.9231	0.88973	0.0:0.0:1.0:0.0	.	170;170;76	B4DMI5;Q86X53;E5RHA3	.;ERIC1_HUMAN;.	E	170;76;170	ENSP00000428635:Q76E;ENSP00000262109:Q170E	ENSP00000262109:Q170E	Q	-	1	0	ERICH1	613844	0.792000	0.28813	0.580000	0.28601	0.992000	0.81027	3.242000	0.51384	2.833000	0.97629	0.655000	0.94253	CAA		0.468	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		11	65	0	0	0	0.010729	0	11	65				
PURG	29942	broad.mit.edu	37	8	30889896	30889896	+	Silent	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr8:30889896G>T	ENST00000475541.1	-	1	1335	c.403C>A	c.(403-405)Cgg>Agg	p.R135R	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Silent_p.R135R	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	135						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R135R(2)		endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TGCTCTTGCCGGTGGCCTTTC	0.597																																							uc003xin.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(403-405)CGG>AGG		purine-rich element binding protein G isoform A							84.0	87.0	86.0					8																	30889896		2203	4300	6503	SO:0001819	synonymous_variant	29942					nucleus	DNA binding	g.chr8:30889896G>T	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.403C>A	8.37:g.30889896G>T						WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Silent_p.R135R	p.R135R	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	1	422	-			135			By similarity.		Q8TE64	Silent	SNP	ENST00000475541.1	37	c.403C>A	CCDS6081.1																																																																																				0.597	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		36	108	1	0	2.6416e-12	0.00623	3.9624e-12	36	108				
CHRNB3	1142	broad.mit.edu	37	8	42591742	42591742	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr8:42591742G>T	ENST00000289957.2	+	6	1486	c.1358G>T	c.(1357-1359)tGg>tTg	p.W453L		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	453					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)	p.W453L(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	TTGAAGATGTGGCTACATAGT	0.398																																							uc003xpi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1357-1359)TGG>TTG		cholinergic receptor, nicotinic, beta							176.0	175.0	175.0					8																	42591742		2203	4300	6503	SO:0001583	missense	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42591742G>T	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.1358G>T	8.37:g.42591742G>T	ENSP00000289957:p.Trp453Leu						p.W453L	NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		6	1486	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	453					Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	c.1358G>T	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.163390	0.78226	.	.	ENSG00000147432	ENST00000289957	T	0.75154	-0.91	5.43	5.43	0.79202	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.401750	0.31859	N	0.006947	T	0.59824	0.2222	N	0.11789	0.175	0.49582	D	0.999808	P	0.35745	0.518	B	0.30316	0.114	T	0.66276	-0.5964	10	0.87932	D	0	.	19.6601	0.95864	0.0:0.0:1.0:0.0	.	453	Q05901	ACHB3_HUMAN	L	453	ENSP00000289957:W453L	ENSP00000289957:W453L	W	+	2	0	CHRNB3	42710899	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.706000	0.74649	2.729000	0.93468	0.460000	0.39030	TGG		0.398	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			32	125	1	0	2.20474e-14	0.003755	3.47042e-14	32	125				
FNTA	2339	broad.mit.edu	37	8	42914258	42914258	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr8:42914258T>C	ENST00000302279.3	+	2	418	c.224T>C	c.(223-225)aTa>aCa	p.I75T	RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.I32T|FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000342116.4_Intron|FNTA_ENST00000524546.1_3'UTR	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	75					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)	p.I75T(1)		cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGGGCTGATATAGATCCGGTG	0.403																																							uc003xps.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(223-225)ATA>ACA		farnesyltransferase, CAAX box, alpha isoform a							78.0	73.0	75.0					8																	42914258		2203	4300	6503	SO:0001583	missense	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42914258T>C	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.224T>C	8.37:g.42914258T>C	ENSP00000303423:p.Ile75Thr					FNTA_uc003xpt.2_Intron|FNTA_uc003xpu.2_Intron|FNTA_uc003xpv.2_Intron	p.I75T	NM_002027	NP_002018	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		2	272	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	75					A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.224T>C	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.398211	0.83120	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000531266;ENST00000533336	.	.	.	5.13	5.13	0.70059	Protein prenyltransferase (1);	0.152270	0.64402	D	0.000010	T	0.66703	0.2816	M	0.73962	2.25	0.80722	D	1	B	0.26547	0.152	B	0.35510	0.204	T	0.69339	-0.5171	9	0.87932	D	0	-15.0627	12.9576	0.58438	0.0:0.0:0.0:1.0	.	75	P49354	FNTA_HUMAN	T	32;75;57;13	.	ENSP00000303423:I75T	I	+	2	0	FNTA;RP11-598P20.5	43033415	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.876000	0.75556	1.944000	0.56390	0.524000	0.50904	ATA		0.403	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		11	19	0	0	0	0.003163	0	11	19				
PXDNL	137902	broad.mit.edu	37	8	52252232	52252232	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr8:52252232G>T	ENST00000356297.4	-	21	4198	c.4098C>A	c.(4096-4098)agC>agA	p.S1366R	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1366					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.S1366R(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGCAAACGTGCTGAAATCTT	0.378																																							uc003xqu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(4096-4098)AGC>AGA		peroxidasin homolog-like precursor							147.0	142.0	143.0					8																	52252232		1872	4098	5970	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52252232G>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.4098C>A	8.37:g.52252232G>T	ENSP00000348645:p.Ser1366Arg					PXDNL_uc003xqt.3_Intron	p.S1366R	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			21	4199	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1366					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.4098C>A	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.328|0.328	-0.957903|-0.957903	0.02267|0.02267	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297	.|T	.|0.63096	.|-0.02	5.0|5.0	3.16|3.16	0.36331|0.36331	.|.	.|.	.|.	.|.	.|.	T|T	0.35595|0.35595	0.0937|0.0937	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999999|0.999999	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.05402|0.05402	-1.0887|-1.0887	5|9	.|0.21014	.|T	.|0.42	.|.	6.1424|6.1424	0.20266|0.20266	0.0976:0.0:0.7173:0.1852|0.0976:0.0:0.7173:0.1852	.|.	.|1366	.|A1KZ92	.|PXDNL_HUMAN	E|R	440|1366	.|ENSP00000348645:S1366R	.|ENSP00000348645:S1366R	A|S	-|-	2|3	0|2	PXDNL|PXDNL	52414785|52414785	0.048000|0.048000	0.20356|0.20356	0.455000|0.455000	0.27031|0.27031	0.003000|0.003000	0.03518|0.03518	0.164000|0.164000	0.16542|0.16542	0.482000|0.482000	0.27582|0.27582	-0.293000|-0.293000	0.09583|0.09583	GCA|AGC		0.378	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		24	73	1	0	5.35356e-11	0.00278	7.58421e-11	24	73				
RP1	6101	broad.mit.edu	37	8	55542556	55542556	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr8:55542556C>A	ENST00000220676.1	+	4	6262	c.6114C>A	c.(6112-6114)caC>caA	p.H2038Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2038					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.H2038Q(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTTCTTGCACACATCATTGT	0.333																																					Colon(91;1014 1389 7634 14542 40420)	Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(6112-6114)CAC>CAA		retinitis pigmentosa RP1 protein							82.0	85.0	84.0					8																	55542556		2202	4300	6502	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542556C>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6114C>A	8.37:g.55542556C>A	ENSP00000220676:p.His2038Gln					RP1_uc011ldy.1_Intron	p.H2038Q	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6262	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	2038						Missense_Mutation	SNP	ENST00000220676.1	37	c.6114C>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.533423	0.00951	.	.	ENSG00000104237	ENST00000220676	T	0.18960	2.18	5.82	-2.72	0.05968	.	0.605744	0.14812	N	0.297014	T	0.10809	0.0264	L	0.39898	1.24	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.30822	-0.9965	10	0.16420	T	0.52	.	1.9537	0.03372	0.1339:0.3185:0.1197:0.4279	.	2038	P56715	RP1_HUMAN	Q	2038	ENSP00000220676:H2038Q	ENSP00000220676:H2038Q	H	+	3	2	RP1	55705109	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.400000	0.07241	-0.177000	0.10690	-0.218000	0.12543	CAC		0.333	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		16	57	1	0	5.03518e-11	0.007413	7.17303e-11	16	57				
KCNB2	9312	broad.mit.edu	37	8	73848519	73848519	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr8:73848519G>C	ENST00000523207.1	+	3	1517	c.929G>C	c.(928-930)aGg>aCg	p.R310T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	310					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R310T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CGCATCCTCAGGATCCTGAAA	0.512																																							uc003xzb.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(928-930)AGG>ACG		potassium voltage-gated channel, Shab-related							78.0	75.0	76.0					8																	73848519		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848519G>C	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.929G>C	8.37:g.73848519G>C	ENSP00000430846:p.Arg310Thr						p.R310T	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1517	+	Breast(64;0.137)		310			Helical; Voltage-sensor; Name=Segment S4; (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.929G>C	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977652	0.92982	.	.	ENSG00000182674	ENST00000523207	D	0.98807	-5.15	5.53	5.53	0.82687	Ion transport (1);	0.000000	0.49305	D	0.000158	D	0.99524	0.9830	H	0.97682	4.055	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98052	1.0388	10	0.87932	D	0	.	19.4526	0.94873	0.0:0.0:1.0:0.0	.	310	Q92953	KCNB2_HUMAN	T	310	ENSP00000430846:R310T	ENSP00000430846:R310T	R	+	2	0	KCNB2	74011073	1.000000	0.71417	0.572000	0.28498	0.888000	0.51559	9.869000	0.99810	2.592000	0.87571	0.655000	0.94253	AGG		0.512	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		22	50	0	0	0	0.002299	0	22	50				
OSR2	116039	broad.mit.edu	37	8	99961644	99961644	+	Missense_Mutation	SNP	C	C	A	rs373472912		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr8:99961644C>A	ENST00000297565.4	+	2	960	c.464C>A	c.(463-465)cCg>cAg	p.P155Q	OSR2_ENST00000523368.1_Missense_Mutation_p.P155Q|OSR2_ENST00000457907.2_Missense_Mutation_p.P276Q|OSR2_ENST00000435298.2_Missense_Mutation_p.P155Q|OSR2_ENST00000522510.1_Missense_Mutation_p.P155Q	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	155					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.P155Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			AAATTGACTCCGGACAGAAAG	0.532																																							uc003yir.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(463-465)CCG>CAG		odd-skipped related 2 isoform a							119.0	128.0	125.0					8																	99961644		1932	4150	6082	SO:0001583	missense	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961644C>A	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.464C>A	8.37:g.99961644C>A	ENSP00000297565:p.Pro155Gln					OSR2_uc010mbn.2_Missense_Mutation_p.P155Q|OSR2_uc003yiq.2_Missense_Mutation_p.P155Q|OSR2_uc011lgx.1_Missense_Mutation_p.P276Q	p.P155Q	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	999	+	Breast(36;4.14e-07)		155					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	ENST00000297565.4	37	c.464C>A	CCDS47901.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640102	0.47153	.	.	ENSG00000164920	ENST00000523368;ENST00000297565;ENST00000435298;ENST00000522510;ENST00000457907;ENST00000520951;ENST00000518199	T;T;T;T;T;T;T	0.10288	2.91;2.97;3.14;2.97;2.89;3.01;3.17	4.35	2.48	0.30137	.	0.109197	0.64402	N	0.000005	T	0.28366	0.0701	M	0.71206	2.165	0.80722	D	1	P;D;P;D	0.67145	0.873;0.993;0.543;0.996	B;P;B;D	0.67900	0.243;0.856;0.08;0.954	T	0.02533	-1.1145	9	.	.	.	-9.6908	13.6349	0.62217	0.2821:0.7179:0.0:0.0	.	276;155;155;155	B4E3B7;E5RH04;Q8N2R0;Q8N2R0-2	.;.;OSR2_HUMAN;.	Q	155;155;155;155;276;208;155	ENSP00000430041:P155Q;ENSP00000297565:P155Q;ENSP00000402862:P155Q;ENSP00000430780:P155Q;ENSP00000414657:P276Q;ENSP00000430074:P208Q;ENSP00000429910:P155Q	.	P	+	2	0	OSR2	100030820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.796000	0.55507	0.731000	0.32448	0.655000	0.94253	CCG		0.532	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		32	129	1	0	4.3181e-19	0.002836	7.86511e-19	32	129				
JAK2	3717	broad.mit.edu	37	9	5050756	5050756	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr9:5050756G>C	ENST00000381652.3	+	6	1033	c.539G>C	c.(538-540)gGg>gCg	p.G180A	JAK2_ENST00000544510.1_Missense_Mutation_p.G31A|JAK2_ENST00000539801.1_Missense_Mutation_p.G180A	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	180	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.G180A(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GAATGTCTTGGGATGGCAGTG	0.388		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																														uc010mhm.2		1		Dom	yes		9	9p24	3717	T|Mis|O	Janus kinase 2			L	ETV6|PCM1|BCR		ALL|AML|MPD| CML	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641						c.(538-540)GGG>GCG		Janus kinase 2							160.0	167.0	165.0					9																	5050756		2203	4300	6503	SO:0001583	missense	3717	Polycythemia_Vera_Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5050756G>C		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.539G>C	9.37:g.5050756G>C	ENSP00000371067:p.Gly180Ala					JAK2_uc003ziw.2_Missense_Mutation_p.G180A	p.G180A	NM_004972	NP_004963	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	5	652	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	180			Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM.		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.539G>C	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725729	0.89298	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.75367	-0.93;-0.93;-0.93	4.97	4.97	0.65823	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.85164	0.5634	M	0.85197	2.74	0.80722	D	1	D	0.59767	0.986	P	0.55785	0.784	D	0.88221	0.2897	10	0.72032	D	0.01	-11.3173	18.2288	0.89927	0.0:0.0:1.0:0.0	.	180	O60674	JAK2_HUMAN	A	180;180;31	ENSP00000440387:G180A;ENSP00000371067:G180A;ENSP00000443103:G31A	ENSP00000371067:G180A	G	+	2	0	JAK2	5040756	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.379000	0.97198	2.301000	0.77427	0.462000	0.41574	GGG		0.388	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			19	33	0	0	0	0.007413	0	19	33				
GAPVD1	26130	broad.mit.edu	37	9	128094322	128094322	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr9:128094322G>T	ENST00000495955.1	+	14	2581	c.2291G>T	c.(2290-2292)gGc>gTc	p.G764V	GAPVD1_ENST00000470056.1_Missense_Mutation_p.G764V|GAPVD1_ENST00000394083.2_Missense_Mutation_p.G743V|GAPVD1_ENST00000394105.2_Missense_Mutation_p.G764V|GAPVD1_ENST00000265956.4_Missense_Mutation_p.G764V|GAPVD1_ENST00000394104.2_Missense_Mutation_p.G764V|GAPVD1_ENST00000297933.6_Missense_Mutation_p.G764V|GAPVD1_ENST00000312123.9_Missense_Mutation_p.G743V			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	764					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.G764V(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGCACACCAGGCCTCAGTGTT	0.507																																							uc010mwx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2290-2292)GGC>GTC		GTPase activating protein and VPS9 domains 1							104.0	81.0	89.0					9																	128094322		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128094322G>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2291G>T	9.37:g.128094322G>T	ENSP00000419063:p.Gly764Val					GAPVD1_uc011lzs.1_Missense_Mutation_p.G764V|GAPVD1_uc004bpp.2_Missense_Mutation_p.G764V|GAPVD1_uc004bpq.2_Missense_Mutation_p.G764V|GAPVD1_uc004bpr.2_Missense_Mutation_p.G743V|GAPVD1_uc004bps.2_Missense_Mutation_p.G764V|GAPVD1_uc010mwy.1_Missense_Mutation_p.G623V	p.G764V	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			14	2617	+			764					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.2291G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	29.3|29.3|29.3	4.990953|4.990953|4.990953	0.93106|0.93106|0.93106	.|.|.	.|.|.	ENSG00000165219|ENSG00000165219|ENSG00000165219	ENST00000431329|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000436712	.|T;T;T;T;T;T;T;T;T|.	.|0.14516|.	.|2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5|.	6.01|6.01|6.01	6.01|6.01|6.01	0.97437|0.97437|0.97437	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.54967|0.54967|0.54967	0.1891|0.1891|0.1891	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D;D;D|.	.|0.89917|.	.|1.0;1.0;1.0;1.0;1.0;1.0|.	.|D;D;D;D;D;D|.	.|0.91635|.	.|0.998;0.996;0.998;0.998;0.998;0.999|.	T|T|T	0.46456|0.46456|0.46456	-0.9190|-0.9190|-0.9190	5|9|5	.|.|.	.|.|.	.|.|.	.|.|.	19.5023|19.5023|19.5023	0.95100|0.95100|0.95100	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|764;764;764;743;764;764|.	.|Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	.|.;GAPD1_HUMAN;.;.;.;.|.	S|V|S	627|764;764;764;764;743;764;764;764;743|600	.|ENSP00000419767:G764V;ENSP00000377665:G764V;ENSP00000377664:G764V;ENSP00000265956:G764V;ENSP00000377645:G743V;ENSP00000419063:G764V;ENSP00000418747:G764V;ENSP00000297933:G764V;ENSP00000309582:G743V|.	.|.|.	A|G|R	+|+|+	1|2|3	0|0|2	GAPVD1|GAPVD1|GAPVD1	127134143|127134143|127134143	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.987000|0.987000|0.987000	0.75469|0.75469|0.75469	9.869000|9.869000|9.869000	0.99810|0.99810|0.99810	2.850000|2.850000|2.850000	0.98022|0.98022|0.98022	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCC|GGC|AGG		0.507	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			7	11	1	0	0.00198382	0.001984	0.00207325	7	11				
HDAC6	10013	broad.mit.edu	37	X	48661577	48661577	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chrX:48661577G>T	ENST00000334136.5	+	4	443	c.265G>T	c.(265-267)Gtg>Ttg	p.V89L	HDAC6_ENST00000376619.2_Missense_Mutation_p.V89L|HDAC6_ENST00000413163.2_Missense_Mutation_p.V34L|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000444343.2_Missense_Mutation_p.V103L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	89	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.V89L(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CACTGGCTTGGTGTTGGATGA	0.488																																					Pancreas(112;205 1675 2305 8976 15959)	Pancreas(112;205 1675 2305 8976 15959)	uc011mmi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(265-267)GTG>TTG		histone deacetylase 6	Vorinostat(DB02546)						76.0	58.0	64.0					X																	48661577		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48661577G>T	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.265G>T	X.37:g.48661577G>T	ENSP00000334061:p.Val89Leu					HDAC6_uc004dkr.1_Missense_Mutation_p.V89L|HDAC6_uc004dks.1_Missense_Mutation_p.V89L|HDAC6_uc010nig.1_5'UTR|HDAC6_uc004dkt.1_Missense_Mutation_p.V89L|HDAC6_uc004dku.3_Missense_Mutation_p.V89L|HDAC6_uc011mmj.1_Missense_Mutation_p.V34L|HDAC6_uc011mmk.1_Missense_Mutation_p.V70L	p.V89L	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN			4	360	+			89			Histone deacetylase 1.		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.265G>T	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255938	0.59321	.	.	ENSG00000094631	ENST00000423941;ENST00000376643;ENST00000444343;ENST00000376610;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000413163;ENST00000441703;ENST00000426196;ENST00000443563;ENST00000440653	T;T;T;T	0.67523	-0.27;-0.26;-0.26;-0.22	4.83	4.83	0.62350	Histone deacetylase domain (1);	0.319627	0.27509	N	0.019059	T	0.54727	0.1876	N	0.24115	0.695	0.42006	D	0.990914	B;B;B;B	0.24576	0.061;0.009;0.061;0.106	B;B;B;B	0.26770	0.027;0.033;0.027;0.073	T	0.58148	-0.7687	10	0.72032	D	0.01	-10.2562	14.2531	0.66033	0.0:0.0:1.0:0.0	.	79;34;89;89	B4DZN1;E7EUZ1;Q9UBN7;Q9BRX7	.;.;HDAC6_HUMAN;.	L	89;89;103;89;89;89;89;34;89;89;89;89	ENSP00000398566:V103L;ENSP00000334061:V89L;ENSP00000365804:V89L;ENSP00000398801:V34L	ENSP00000334061:V89L	V	+	1	0	HDAC6	48546521	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.525000	0.67110	2.237000	0.73441	0.529000	0.55759	GTG		0.488	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		9	2	1	0	0.000673444	0.008291	0.000712565	9	2				
XAGE5	170627	broad.mit.edu	37	X	52844156	52844156	+	Silent	SNP	A	A	G			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chrX:52844156A>G	ENST00000375501.1	+	3	219	c.219A>G	c.(217-219)tcA>tcG	p.S73S	XAGE5_ENST00000425386.1_Silent_p.S73S|XAGE5_ENST00000351072.1_Silent_p.S73S|XAGE5_ENST00000375503.3_3'UTR|XAGE5_ENST00000445860.2_3'UTR			Q8WWM1	XAGE5_HUMAN	X antigen family, member 5	73								p.S73S(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						TGTCTCAGTCAAAGACTGGGG	0.443																																							uc004drd.1		NA																	1	Substitution - coding silent(1)	p.S73*(1)	lung(1)	ovary(1)	1						c.(217-219)TCA>TCG		X antigen family, member 5							59.0	51.0	54.0					X																	52844156		2203	4297	6500	SO:0001819	synonymous_variant	170627							g.chrX:52844156A>G	BC069129	CCDS14346.1	Xp11.23	2010-10-19		2005-01-27	ENSG00000171405	ENSG00000171405			30930	protein-coding gene	gene with protein product	"""cancer/testis antigen family 12, member 5"""		"""G antigen, family D, 5"""	GAGED5		12477932	Standard	NM_130775		Approved	XAGE-5, CT12.5	uc004drd.1	Q8WWM1	OTTHUMG00000021589	ENST00000375501.1:c.219A>G	X.37:g.52844156A>G							p.S73S	NM_130775	NP_570131	Q8WWM1	GAGD5_HUMAN			4	284	+			73					Q5JS81	Silent	SNP	ENST00000375501.1	37	c.219A>G	CCDS14346.1																																																																																				0.443	XAGE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056689.1	NM_130775		12	9	0	0	0	0.010729	0	12	9				
ATP7A	538	broad.mit.edu	37	X	77298209	77298209	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chrX:77298209G>T	ENST00000341514.6	+	20	4083	c.3928G>T	c.(3928-3930)Gca>Tca	p.A1310S	ATP7A_ENST00000343533.5_Missense_Mutation_p.A1232S|ATP7A_ENST00000350425.4_Missense_Mutation_p.A313S	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1310					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.A1310S(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CCCAGCTCTGGCAATGGCTAA	0.478																																							uc004ecx.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(3928-3930)GCA>TCA		ATPase, Cu++ transporting, alpha polypeptide							214.0	174.0	188.0					X																	77298209		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77298209G>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3928G>T	X.37:g.77298209G>T	ENSP00000345728:p.Ala1310Ser						p.A1310S	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			20	4088	+			1310			Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.3928G>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001861	0.93227	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.97328	-4.34;-4.34;-4.34	5.01	5.01	0.66863	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.98112	0.9377	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99577	1.0972	10	0.87932	D	0	-1.8879	17.4343	0.87547	0.0:0.0:1.0:0.0	.	1310	Q04656	ATP7A_HUMAN	S	1232;313;1310	ENSP00000343026:A1232S;ENSP00000343678:A313S;ENSP00000345728:A1310S	ENSP00000345728:A1310S	A	+	1	0	ATP7A	77184865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.760000	0.98935	2.042000	0.60477	0.600000	0.82982	GCA		0.478	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		66	46	1	0	6.52717e-41	0.00361	1.32097e-40	66	46				
KLHL4	56062	broad.mit.edu	37	X	86869526	86869526	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chrX:86869526G>C	ENST00000373119.4	+	3	825	c.680G>C	c.(679-681)gGa>gCa	p.G227A	KLHL4_ENST00000373114.4_Missense_Mutation_p.G227A	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	227	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G227A(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGGATGGAAGGAGTAGATCCA	0.398																																							uc004efb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(679-681)GGA>GCA		kelch-like 4 isoform 1							170.0	124.0	140.0					X																	86869526		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86869526G>C	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.680G>C	X.37:g.86869526G>C	ENSP00000362211:p.Gly227Ala					KLHL4_uc004efa.2_Missense_Mutation_p.G227A	p.G227A	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			3	862	+			227			BTB.		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.680G>C	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739084	0.69304	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.71817	-0.6;-0.6	4.71	3.85	0.44370	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.82356	0.5019	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.76575	0.988;0.979	T	0.83043	-0.0156	10	0.72032	D	0.01	.	11.2019	0.48747	0.0919:0.0:0.9081:0.0	.	227;227	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	A	227	ENSP00000362211:G227A;ENSP00000362206:G227A	ENSP00000362206:G227A	G	+	2	0	KLHL4	86756182	1.000000	0.71417	0.313000	0.25210	0.977000	0.68977	9.239000	0.95389	0.788000	0.33755	0.436000	0.28706	GGA		0.398	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			26	10	0	0	0	0.003954	0	26	10				
SPRY3	10251	broad.mit.edu	37	X	155003948	155003948	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chrX:155003948C>A	ENST00000302805.2	+	2	846	c.415C>A	c.(415-417)Cac>Aac	p.H139N		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	139					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.H139N(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCTGCAGGGCACCCTAGTGA	0.602																																							uc004fnq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(415-417)CAC>AAC		sprouty homolog 3							99.0	104.0	103.0					X																	155003948		2203	4296	6499	SO:0001583	missense	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155003948C>A	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.415C>A	X.37:g.155003948C>A	ENSP00000302978:p.His139Asn					SPRY3_uc010nvl.1_Intron	p.H139N	NM_005840	NP_005831	O43610	SPY3_HUMAN			2	869	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		139					A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	c.415C>A	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	C	0.339	-0.951408	0.02285	.	.	ENSG00000168939	ENST00000302805	T	0.53640	0.61	2.97	2.97	0.34412	.	0.821323	0.10951	N	0.616138	T	0.25195	0.0612	.	.	.	0.09310	N	1	B	0.21452	0.056	B	0.08055	0.003	T	0.16958	-1.0385	9	0.15066	T	0.55	-24.0711	5.5258	0.16957	0.0:0.8365:0.0:0.1635	.	139	O43610	SPY3_HUMAN	N	139	ENSP00000302978:H139N	ENSP00000302978:H139N	H	+	1	0	SPRY3	154657142	0.872000	0.30054	0.340000	0.25575	0.669000	0.39330	3.295000	0.51794	1.500000	0.48636	0.279000	0.19357	CAC		0.602	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		38	69	1	0	1.03484e-13	0.005524	1.58966e-13	38	69				
PRKY	5616	broad.mit.edu	37	Y	7193996	7193996	+	RNA	SNP	G	G	T			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chrY:7193996G>T	ENST00000528056.1	+	0	726				RN7SKP282_ENST00000516824.1_RNA	NR_028062.1		O43930	PRKY_HUMAN	protein kinase, Y-linked, pseudogene						protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V129L(1)		large_intestine(2)|lung(3)|skin(1)	6						CATGGAGTATGTGCCGGGTGG	0.622																																							uc004fre.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(385-387)GTG>TTG		RecName: Full=Serine/threonine-protein kinase PRKX;          EC=2.7.11.1; AltName: Full=Protein kinase PKX1;							45.0	45.0	45.0					Y																	7193996		592	1934	2526			5616							g.chrY:7193996G>T			Yp11.2	2011-09-15	2011-09-15		ENSG00000099725	ENSG00000099725			9444	pseudogene	pseudogene		400008	"""protein kinase, Y-linked"""			7633447	Standard	NR_028062		Approved	PRKYP, PRKXP3	uc004fre.3	O43930	OTTHUMG00000035301		Y.37:g.7193996G>T							p.V129L	NM_002760	NP_002751					3	725	+								O15348|O15349	Missense_Mutation	SNP	ENST00000528056.1	37	c.385G>T																																																																																					0.622	PRKY-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000085364.1			21	8	1	0	7.41877e-09	0.012319	9.90464e-09	21	8				
CRB1	23418	broad.mit.edu	37	1	197390533	197390533	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:197390533delC	ENST00000367400.3	+	6	1710	c.1575delC	c.(1573-1575)ttcfs	p.F525fs	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Frame_Shift_Del_p.F6fs|CRB1_ENST00000367399.2_Frame_Shift_Del_p.F413fs|CRB1_ENST00000535699.1_Frame_Shift_Del_p.F456fs|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000543483.1_Frame_Shift_Del_p.F224fs|CRB1_ENST00000538660.1_Frame_Shift_Del_p.F525fs	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	525	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTCTACTTTTCCGAAGCAACA	0.453																																							uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(1573-1575)TTCfs		crumbs homolog 1 precursor							116.0	113.0	114.0					1																	197390533		2203	4300	6503	SO:0001589	frameshift_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390533delC		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1575delC	1.37:g.197390533delC	ENSP00000356370:p.Phe525fs					CRB1_uc010poz.1_Frame_Shift_Del_p.F456fs|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Frame_Shift_Del_p.F413fs|CRB1_uc010ppb.1_Frame_Shift_Del_p.F525fs|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Frame_Shift_Del_p.F6fs|CRB1_uc001gub.1_Frame_Shift_Del_p.F174fs	p.F525fs	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1710	+			525			Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Frame_Shift_Del	DEL	ENST00000367400.3	37	c.1575delC	CCDS1390.1																																																																																				0.453	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		40	86	NA	NA	NA	NA	NA	40	86	---	---	---	---
FAM177B	400823	broad.mit.edu	37	1	222923324	222923324	+	Frame_Shift_Del	DEL	A	A	-			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr1:222923324delA	ENST00000445590.2	+	6	667	c.401delA	c.(400-402)gaafs	p.E134fs	FAM177B_ENST00000360827.2_Frame_Shift_Del_p.E134fs	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	134										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						GTTCCTAATGAAAAGTGTCAC	0.463																																							uc001hnt.2		NA																	0				ovary(1)	1						c.(400-402)GAAfs		hypothetical protein LOC400823							80.0	81.0	81.0					1																	222923324		1947	4153	6100	SO:0001589	frameshift_variant	400823							g.chr1:222923324delA	AK125494	CCDS1535.2	1q41	2008-08-08			ENSG00000197520	ENSG00000197520			34395	protein-coding gene	gene with protein product							Standard	NM_207468		Approved	RP11-452F19.2, FLJ43505	uc001hnt.3	A6PVY3	OTTHUMG00000037766	ENST00000445590.2:c.401delA	1.37:g.222923324delA	ENSP00000414451:p.Glu134fs					uc001hnr.1_Intron|FAM177B_uc009xeb.2_RNA	p.E134fs	NM_207468	NP_997351	A6PVY3	F177B_HUMAN			6	667	+			134					Q6ZUN8	Frame_Shift_Del	DEL	ENST00000445590.2	37	c.401delA	CCDS1535.2																																																																																				0.463	FAM177B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092151.2	NM_207468		24	37	NA	NA	NA	NA	NA	24	37	---	---	---	---
ZNF71	58491	broad.mit.edu	37	19	57132833	57132834	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr19:57132833_57132834insA	ENST00000328070.6	+	3	412_413	c.178_179insA	c.(178-180)ggafs	p.G60fs		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	60					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGAGCCATTGGGAATTCCCCAG	0.609																																							uc002qnm.3		NA																	0				skin(1)	1						c.(178-180)GGAfs		zinc finger protein 71																																				SO:0001589	frameshift_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57132833_57132834insA	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		Exception_encountered	19.37:g.57132833_57132834insA	ENSP00000328245:p.Gly60fs						p.G60fs	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	416_417	+			60					Q15919|Q9UC09|Q9UQD3	Frame_Shift_Ins	INS	ENST00000328070.6	37	c.178_179insA	CCDS12947.1																																																																																				0.609	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		8	29	NA	NA	NA	NA	NA	8	29	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1842936	1842936	+	Frame_Shift_Del	DEL	A	A	-			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:1842936delA	ENST00000399161.2	-	21	3812	c.3065delT	c.(3064-3066)ttcfs	p.F1022fs	MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000407844.1_Frame_Shift_Del_p.F18fs|MYT1L_ENST00000428368.2_Frame_Shift_Del_p.F1020fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1022					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTGTGTGAGGAAGCTGCCGCT	0.662																																							uc002qxe.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(3064-3066)TTCfs		myelin transcription factor 1-like							16.0	20.0	19.0					2																	1842936		2026	4167	6193	SO:0001589	frameshift_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1842936delA	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3065delT	2.37:g.1842936delA	ENSP00000382114:p.Phe1022fs					MYT1L_uc002qxd.2_Frame_Shift_Del_p.F1020fs|MYT1L_uc010ewk.2_Frame_Shift_Del_p.F18fs	p.F1022fs	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	21	3892	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1022			C2HC-type 6.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Frame_Shift_Del	DEL	ENST00000399161.2	37	c.3065delT																																																																																					0.662	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		22	16	NA	NA	NA	NA	NA	22	16	---	---	---	---
CAD	790	broad.mit.edu	37	2	27463992	27463993	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:27463992_27463993delAG	ENST00000403525.1	+	36	5660_5661	c.5516_5517delAG	c.(5515-5517)cagfs	p.Q1839fs	CAD_ENST00000264705.4_Frame_Shift_Del_p.Q1902fs			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCTCCCCAGAACCTGGGGA	0.604																																							uc002rji.2		NA																	0				ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(5704-5706)CAGfs		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)																																			SO:0001589	frameshift_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27463992_27463993delAG	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5516_5517delAG	2.37:g.27463992_27463993delAG	ENSP00000384510:p.Gln1839fs					CAD_uc010eyw.2_Frame_Shift_Del_p.Q1839fs	p.Q1902fs	NM_004341	NP_004332	P27708	PYR1_HUMAN			37	5867_5868	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1902			Linker.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Del	DEL	ENST00000403525.1	37	c.5705_5706delAG																																																																																					0.604	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			83	201	NA	NA	NA	NA	NA	83	201	---	---	---	---
CLASP1	23332	broad.mit.edu	37	2	122165204	122165204	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr2:122165204delG	ENST00000263710.4	-	25	2901	c.2512delC	c.(2512-2514)cgcfs	p.R838fs	CLASP1_ENST00000455322.2_Frame_Shift_Del_p.R810fs|CLASP1_ENST00000545861.1_Frame_Shift_Del_p.R585fs|CLASP1_ENST00000397587.3_Frame_Shift_Del_p.R818fs|CLASP1_ENST00000409078.3_Frame_Shift_Del_p.R810fs|CLASP1_ENST00000541377.1_Frame_Shift_Del_p.R816fs|CLASP1_ENST00000541859.1_Frame_Shift_Del_p.R571fs	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	838					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CCATATGAGCGCTCAGAGCAA	0.498																																							uc002tnc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2512-2514)CGCfs		CLIP-associating protein 1 isoform 1							130.0	123.0	125.0					2																	122165204		2016	4188	6204	SO:0001589	frameshift_variant	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122165204delG	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2512delC	2.37:g.122165204delG	ENSP00000263710:p.Arg838fs					CLASP1_uc010yyv.1_5'UTR|CLASP1_uc002tmz.2_5'UTR|CLASP1_uc002tna.2_5'UTR|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Frame_Shift_Del_p.R818fs|CLASP1_uc010yza.1_Frame_Shift_Del_p.R810fs|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Frame_Shift_Del_p.R809fs	p.R838fs	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			25	2902	-	Renal(3;0.0496)		838					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Frame_Shift_Del	DEL	ENST00000263710.4	37	c.2512delC																																																																																					0.498	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		21	83	NA	NA	NA	NA	NA	21	83	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66465421	66465422	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr3:66465421_66465422insA	ENST00000273261.3	-	5	1093_1094	c.569_570insT	c.(568-570)ctgfs	p.L190fs	LRIG1_ENST00000383703.3_Frame_Shift_Ins_p.L190fs	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	190					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GAAGAGTTAGCAGCGACCGTGA	0.495																																							uc003dmx.2		NA																	0				skin(3)|ovary(2)	5						c.(568-570)CTGfs		leucine-rich repeats and immunoglobulin-like																																				SO:0001589	frameshift_variant	26018					integral to membrane		g.chr3:66465421_66465422insA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.570dupT	3.37:g.66465422_66465422dupA	ENSP00000273261:p.Leu190fs					LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Frame_Shift_Ins_p.L190fs	p.L190fs	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	5	583_584	-		Lung NSC(201;0.0101)	190			Extracellular (Potential).|LRR 6.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Frame_Shift_Ins	INS	ENST00000273261.3	37	c.569_570insT	CCDS33783.1																																																																																				0.495	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		38	49	NA	NA	NA	NA	NA	38	49	---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	38091623	38091623	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr4:38091623delC	ENST00000261439.4	+	13	2476	c.2121delC	c.(2119-2121)ggcfs	p.G707fs	TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.G801fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	707					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GGCCCTTTGGCCCCCCACCAG	0.493																																							uc003gtb.2		NA																	0				ovary(1)	1						c.(2119-2121)GGCfs		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							79.0	86.0	84.0					4																	38091623		2203	4300	6503	SO:0001589	frameshift_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38091623delC	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2121delC	4.37:g.38091623delC	ENSP00000261439:p.Gly707fs					TBC1D1_uc011byd.1_Frame_Shift_Del_p.G801fs|TBC1D1_uc010ifd.2_Frame_Shift_Del_p.G494fs|TBC1D1_uc011byf.1_Frame_Shift_Del_p.G578fs	p.G707fs	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			13	2464	+			707					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Frame_Shift_Del	DEL	ENST00000261439.4	37	c.2121delC	CCDS33972.1																																																																																				0.493	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		66	119	NA	NA	NA	NA	NA	66	119	---	---	---	---
VPS52	6293	broad.mit.edu	37	6	33235055	33235056	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr6:33235055_33235056insA	ENST00000445902.2	-	11	1252_1253	c.1034_1035insT	c.(1033-1035)ttcfs	p.F345fs	VPS52_ENST00000478934.1_Intron|VPS52_ENST00000436044.2_Frame_Shift_Ins_p.F220fs|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	345					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTCCTAGGGTGAAAATGGTGTT	0.564																																							uc003odm.1		NA																	0				ovary(4)|skin(1)	5						c.(1033-1035)TTCfs		vacuolar protein sorting 52																																				SO:0001589	frameshift_variant	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33235055_33235056insA	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1035dupT	6.37:g.33235059_33235059dupA	ENSP00000409952:p.Phe345fs					VPS52_uc003odn.1_Intron	p.F345fs	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN			11	1244_1245	-			345					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Frame_Shift_Ins	INS	ENST00000445902.2	37	c.1034_1035insT	CCDS4770.2																																																																																				0.564	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		8	85	NA	NA	NA	NA	NA	8	85	---	---	---	---
DPH7	92715	broad.mit.edu	37	9	140459346	140459346	+	Splice_Site	DEL	T	T	-			TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chr9:140459346delT	ENST00000277540.2	-	7	932	c.775delA	c.(775-777)agc>gc	p.S259fs	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	259					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												GGGACTCACCTTCCCGTGGCC	0.642																																							uc004cnk.1		NA																	0					0						c.(775-777)AGCfs		WD repeat domain 85							32.0	26.0	28.0					9																	140459346		2201	4297	6498	SO:0001630	splice_region_variant	92715				peptidyl-diphthamide biosynthetic process from peptidyl-histidine			g.chr9:140459346delT	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"""WD repeat domain containing"""	25199	protein-coding gene	gene with protein product		613210	"""chromosome 9 open reading frame 112"", ""WD repeat domain 85"""	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.776+1A>-	9.37:g.140459346delT						WDR85_uc004cnj.1_5'UTR|WDR85_uc004cnl.1_Frame_Shift_Del_p.S83fs|WDR85_uc004cnm.1_Frame_Shift_Del_p.S20fs|WDR85_uc004cnn.1_Intron|WDR85_uc010ncl.1_Frame_Shift_Del_p.S20fs	p.S259fs	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)	7	933	-	all_cancers(76;0.106)		259			WD 2.		Q96AB7	Frame_Shift_Del	DEL	ENST00000277540.2	37	c.775delA	CCDS7047.1																																																																																				0.642	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778	Frame_Shift_Del	2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
RPL10	6134	broad.mit.edu	37	X	153626818	153626821	+	Intron	DEL	CTCT	CTCT	-	rs375290440|rs191371671		TCGA-75-5146-01A-01D-1625-08	TCGA-75-5146-10A-01D-1625-08	CTCT	CTCT	-	-	CTCT	CTCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	965a2bb7-6cd4-4309-beba-51ae74b8a980	47f4e18d-ab88-4abe-8dad-12268c017776	g.chrX:153626818_153626821delCTCT	ENST00000369817.2	+	3	553				RPL10_ENST00000406022.2_5'Flank|RPL10_ENST00000424325.2_Intron|SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000479366.1_Intron			P27635	RL10_HUMAN	ribosomal protein L10						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCGTTCCGACTCTCTCTTTTTCG	0.559																																							uc010nuv.1		NA																	0					NA						c.(40-45)AGAGAGfs		Homo sapiens cDNA, FLJ97181.																																				SO:0001627	intron_variant	0							g.chrX:153626818_153626821delCTCT	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"""L ribosomal proteins"""	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.-23-17CTCT>-	X.37:g.153626822_153626825delCTCT						RPL10_uc004fkm.2_Intron|RPL10_uc004fko.2_Intron|RPL10_uc004fkn.1_5'UTR|RPL10_uc004fkp.1_5'Flank|RPL10_uc004fkq.1_5'Flank|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank	p.R14fs							1	358_361	-								A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Frame_Shift_Del	DEL	ENST00000369817.2	37	c.42_45delAGAG	CCDS14746.1																																																																																				0.559	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013		147	123	NA	NA	NA	NA	NA	147	123	---	---	---	---
